#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
RREB1	6239	broad.mit.edu	37	6	7230136	7230136	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr6:7230136A>G	ENST00000349384.6	+	10	2118	c.1804A>G	c.(1804-1806)Atc>Gtc	p.I602V	RREB1_ENST00000334984.6_Missense_Mutation_p.I602V|RREB1_ENST00000379933.3_Missense_Mutation_p.I602V|RREB1_ENST00000379938.2_Missense_Mutation_p.I602V	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	602					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GGACAGCATCATCGAGGCCCT	0.672																																						ENST00000379938.2																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(1804-1806)Atc>Gtc		ras responsive element binding protein 1							16.0	17.0	17.0					6																	7230136		2127	4197	6324	SO:0001583	missense	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7230136A>G	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.1804A>G	6.37:g.7230136A>G	ENSP00000305560:p.Ile602Val					RREB1_ENST00000334984.6_Missense_Mutation_p.I602V|RREB1_ENST00000349384.6_Missense_Mutation_p.I602V|RREB1_ENST00000379933.3_Missense_Mutation_p.I602V	p.I602V	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN			10	2341	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	602					A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	ENST00000349384.6	37	c.1804A>G	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	A	10.46	1.355829	0.24598	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984;ENST00000483150	T;T;T;T;T	0.10288	2.98;2.95;2.98;2.89;3.05	5.27	4.1	0.47936	.	0.201897	0.32852	N	0.005562	T	0.04048	0.0113	L	0.57536	1.79	0.27230	N	0.959436	B;B;B	0.34200	0.441;0.314;0.4	B;B;B	0.32211	0.142;0.067;0.121	T	0.34079	-0.9843	10	0.17369	T	0.5	-27.876	12.4646	0.55751	0.86:0.14:0.0:0.0	.	602;602;602	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	V	602	ENSP00000369265:I602V;ENSP00000369270:I602V;ENSP00000305560:I602V;ENSP00000335574:I602V;ENSP00000419511:I602V	ENSP00000335574:I602V	I	+	1	0	RREB1	7175135	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	2.727000	0.47311	1.000000	0.39049	0.533000	0.62120	ATC		0.672	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			11	30	0	0	0	1	0	11	30				
STK31	56164	broad.mit.edu	37	7	23792352	23792352	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr7:23792352C>T	ENST00000355870.3	+	9	1153	c.1034C>T	c.(1033-1035)gCt>gTt	p.A345V	STK31_ENST00000405627.3_3'UTR|STK31_ENST00000428484.1_Missense_Mutation_p.A322V|STK31_ENST00000433467.2_Missense_Mutation_p.A345V|STK31_ENST00000354639.3_Missense_Mutation_p.A322V	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	345						acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AAGGCAGCTGCTGTGGATTTG	0.368																																						ENST00000354639.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(964-966)gCt>gTt		serine/threonine kinase 31							90.0	88.0	88.0					7																	23792352		2203	4300	6503	SO:0001583	missense	56164						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	g.chr7:23792352C>T	AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"""Tudor domain containing"""	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.1034C>T	7.37:g.23792352C>T	ENSP00000348132:p.Ala345Val					STK31_ENST00000428484.1_Missense_Mutation_p.A322V|STK31_ENST00000433467.2_Missense_Mutation_p.A345V|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000355870.3_Missense_Mutation_p.A345V	p.A322V	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN			9	1429	+			345					B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Missense_Mutation	SNP	ENST00000355870.3	37	c.965C>T	CCDS5386.1	.	.	.	.	.	.	.	.	.	.	C	6.607	0.480426	0.12581	.	.	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	T;T;T;T	0.23552	1.9;1.9;1.9;1.9	4.94	4.06	0.47325	.	0.365222	0.29286	N	0.012598	T	0.12987	0.0315	N	0.08118	0	0.20764	N	0.99986	B;B	0.20887	0.049;0.049	B;B	0.19666	0.026;0.026	T	0.18429	-1.0337	10	0.37606	T	0.19	0.2882	9.6215	0.39723	0.0:0.9016:0.0:0.0984	.	345;345	B4DZ06;Q9BXU1	.;STK31_HUMAN	V	345;345;322;322	ENSP00000348132:A345V;ENSP00000411852:A345V;ENSP00000346660:A322V;ENSP00000406146:A322V	ENSP00000346660:A322V	A	+	2	0	STK31	23758877	0.139000	0.22563	0.825000	0.32803	0.069000	0.16628	1.173000	0.31920	1.218000	0.43458	0.591000	0.81541	GCT		0.368	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414		14	75	0	0	0	1	0	14	75				
HGS	9146	broad.mit.edu	37	17	79667832	79667832	+	Silent	SNP	T	T	C			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr17:79667832T>C	ENST00000329138.4	+	20	2259	c.2124T>C	c.(2122-2124)ccT>ccC	p.P708P	MRPL12_ENST00000333676.3_5'Flank|SLC25A10_ENST00000571730.1_5'Flank|RP13-1032I1.7_ENST00000575312.1_RNA|SLC25A10_ENST00000541223.1_5'Flank	NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	708	Gln-rich.|Interaction with NF2.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|epidermal growth factor receptor signaling pathway (GO:0007173)|membrane invagination (GO:0010324)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of gene expression (GO:0010628)|protein localization to membrane (GO:0072657)|protein targeting to lysosome (GO:0006622)|regulation of protein catabolic process (GO:0042176)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|secretory granule (GO:0030141)	metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			GCTACCAGCCTTACAACATGC	0.642																																						ENST00000329138.4																			0				endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(2122-2124)ccT>ccC		hepatocyte growth factor-regulated tyrosine kinase substrate							46.0	43.0	44.0					17																	79667832		2203	4300	6503	SO:0001819	synonymous_variant	9146				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding	g.chr17:79667832T>C	D84064	CCDS11784.1	17q25	2009-04-29				ENSG00000185359		"""Zinc fingers, FYVE domain containing"""	4897	protein-coding gene	gene with protein product		604375				9407053, 9630564	Standard	NM_004712		Approved	Hrs, ZFYVE8, Vps27	uc002kbg.3	O14964		ENST00000329138.4:c.2124T>C	17.37:g.79667832T>C							p.P708P	NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		20	2259	+	all_neural(118;0.0878)|all_lung(278;0.23)		708			Gln-rich.|Interaction with NF2.		Q9NR36	Silent	SNP	ENST00000329138.4	37	c.2124T>C	CCDS11784.1																																																																																				0.642	HGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440541.1	NM_004712		13	53	0	0	0	1	0	13	53				
UBE3B	89910	broad.mit.edu	37	12	109927763	109927763	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr12:109927763A>G	ENST00000342494.3	+	8	1179	c.584A>G	c.(583-585)aAt>aGt	p.N195S	UBE3B_ENST00000537063.1_Missense_Mutation_p.N195S|UBE3B_ENST00000536398.1_Missense_Mutation_p.N195S|UBE3B_ENST00000434735.2_Missense_Mutation_p.N195S|UBE3B_ENST00000340074.5_Missense_Mutation_p.N195S|UBE3B_ENST00000280774.5_Missense_Mutation_p.N195S|UBE3B_ENST00000540230.1_Missense_Mutation_p.N195S	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	195					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						ATTTGTGCAAATATAATGGGA	0.448																																						ENST00000342494.3																			0				NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						c.(583-585)aAt>aGt		ubiquitin protein ligase E3B							216.0	189.0	198.0					12																	109927763		2203	4300	6503	SO:0001583	missense	89910				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr12:109927763A>G	BC032301	CCDS9129.1, CCDS58277.1	12q24.12	2004-03-02			ENSG00000151148	ENSG00000151148			13478	protein-coding gene	gene with protein product		608047					Standard	NM_130466		Approved		uc001toq.4	Q7Z3V4	OTTHUMG00000169254	ENST00000342494.3:c.584A>G	12.37:g.109927763A>G	ENSP00000340596:p.Asn195Ser					UBE3B_ENST00000540230.1_Missense_Mutation_p.N195S|UBE3B_ENST00000434735.2_Missense_Mutation_p.N195S|UBE3B_ENST00000280774.5_Missense_Mutation_p.N195S|UBE3B_ENST00000340074.5_Missense_Mutation_p.N195S|UBE3B_ENST00000537063.1_Missense_Mutation_p.N195S|UBE3B_ENST00000536398.1_Missense_Mutation_p.N195S	p.N195S	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN			8	1179	+			195					A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Missense_Mutation	SNP	ENST00000342494.3	37	c.584A>G	CCDS9129.1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.796308	0.90453	.	.	ENSG00000151148	ENST00000434735;ENST00000280774;ENST00000536398;ENST00000539599;ENST00000342494;ENST00000340074;ENST00000540230;ENST00000537063	T;T;T;T;T;T;T;T	0.65178	2.05;2.05;-0.14;2.05;2.05;-0.14;-0.14;2.05	5.68	5.68	0.88126	.	0.040458	0.85682	D	0.000000	T	0.77738	0.4175	M	0.75777	2.31	0.80722	D	1	D;D;D	0.71674	0.986;0.998;0.998	P;D;D	0.66084	0.767;0.941;0.941	T	0.80772	-0.1233	10	0.87932	D	0	-26.5559	15.089	0.72177	1.0:0.0:0.0:0.0	.	195;195;195	Q7Z3V4;Q7Z3V4-3;F5H6D6	UBE3B_HUMAN;.;.	S	195	ENSP00000391529:N195S;ENSP00000280774:N195S;ENSP00000440585:N195S;ENSP00000443131:N195S;ENSP00000340596:N195S;ENSP00000342614:N195S;ENSP00000443565:N195S;ENSP00000437694:N195S	ENSP00000280774:N195S	N	+	2	0	UBE3B	108412146	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	8.776000	0.91776	2.161000	0.67846	0.533000	0.62120	AAT		0.448	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403119.1	NM_183415		68	82	0	0	0	1	0	68	82				
TXNDC16	57544	broad.mit.edu	37	14	53003496	53003496	+	Silent	SNP	G	G	A	rs138963960		TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr14:53003496G>A	ENST00000281741.4	-	6	704	c.333C>T	c.(331-333)ctC>ctT	p.L111L	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	111					cell redox homeostasis (GO:0045454)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					GGAATTCTCTGAGCAATATGT	0.313													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16097	0.0		0.0	False		,,,				2504	0.0					ENST00000281741.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21						c.(331-333)ctC>ctT		thioredoxin domain containing 16							67.0	59.0	62.0					14																	53003496		2203	4300	6503	SO:0001819	synonymous_variant	57544				cell redox homeostasis	extracellular region		g.chr14:53003496G>A	AB037765	CCDS32083.1	14q22.1	2007-08-16	2007-08-16	2007-08-16		ENSG00000087301			19965	protein-coding gene	gene with protein product			"""KIAA1344"""	KIAA1344			Standard	NM_020784		Approved		uc001wzs.3	Q9P2K2		ENST00000281741.4:c.333C>T	14.37:g.53003496G>A						TXNDC16_ENST00000554399.1_Intron	p.L111L	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN			6	704	-	Breast(41;0.0716)		111					A5PKW9|A7E260|A7MD07|B9EH67|Q9H9W7	Silent	SNP	ENST00000281741.4	37	c.333C>T	CCDS32083.1																																																																																				0.313	TXNDC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411681.1	XM_051699		9	36	0	0	0	1	0	9	36				
FRMD8	83786	broad.mit.edu	37	11	65172435	65172435	+	Missense_Mutation	SNP	C	C	T	rs201911015		TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr11:65172435C>T	ENST00000317568.5	+	10	1335	c.1172C>T	c.(1171-1173)cCc>cTc	p.P391L	FRMD8_ENST00000355991.5_Missense_Mutation_p.P335L|FRMD8_ENST00000416776.2_Missense_Mutation_p.P357L	NM_031904.3	NP_114110.1	Q9BZ67	FRMD8_HUMAN	FERM domain containing 8	391						cytoskeleton (GO:0005856)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|urinary_tract(1)	17						CCCTCGGACCCCAGCTCCTCA	0.652																																						ENST00000317568.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|urinary_tract(1)	17						c.(1171-1173)cCc>cTc		FERM domain containing 8							37.0	36.0	37.0					11																	65172435		2201	4295	6496	SO:0001583	missense	83786					cytoskeleton	binding	g.chr11:65172435C>T	AK074850	CCDS8102.1, CCDS73320.1	11q13.1	2007-08-14			ENSG00000126391	ENSG00000126391			25462	protein-coding gene	gene with protein product						12477932	Standard	NM_031904		Approved	FLJ90369, FKSG44	uc001odu.4	Q9BZ67	OTTHUMG00000166275	ENST00000317568.5:c.1172C>T	11.37:g.65172435C>T	ENSP00000319726:p.Pro391Leu					FRMD8_ENST00000416776.2_Missense_Mutation_p.P357L|FRMD8_ENST00000355991.5_Missense_Mutation_p.P335L	p.P391L	NM_031904.3	NP_114110.1	Q9BZ67	FRMD8_HUMAN			10	1335	+			391					B4E2P1|Q86V56|Q8NCB5	Missense_Mutation	SNP	ENST00000317568.5	37	c.1172C>T	CCDS8102.1	.	.	.	.	.	.	.	.	.	.	C	14.07	2.426628	0.43020	.	.	ENSG00000126391	ENST00000317568;ENST00000355991;ENST00000416776	D;T;D	0.82711	-1.63;-1.04;-1.64	5.09	4.16	0.48862	.	0.538592	0.18700	N	0.133615	T	0.80994	0.4731	L	0.59436	1.845	0.22571	N	0.998974	B;B;B	0.31548	0.22;0.328;0.099	B;B;B	0.33521	0.036;0.165;0.037	T	0.73145	-0.4075	10	0.51188	T	0.08	0.0956	13.5588	0.61777	0.0:0.8422:0.1577:0.0	.	357;335;391	B4E2P1;Q9BZ67-2;Q9BZ67	.;.;FRMD8_HUMAN	L	391;335;357	ENSP00000319726:P391L;ENSP00000348270:P335L;ENSP00000392111:P357L	ENSP00000319726:P391L	P	+	2	0	FRMD8	64929011	0.004000	0.15560	0.022000	0.16811	0.028000	0.11728	1.943000	0.40253	1.250000	0.43966	0.655000	0.94253	CCC		0.652	FRMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388833.1	NM_031904		13	54	0	0	0	1	0	13	54				
THAP5	168451	broad.mit.edu	37	7	108204880	108204880	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr7:108204880T>C	ENST00000415914.3	-	3	1096	c.943A>G	c.(943-945)Aca>Gca	p.T315A	THAP5_ENST00000313516.5_Missense_Mutation_p.T273A|THAP5_ENST00000493722.1_5'UTR	NM_001130475.1	NP_001123947.1	Q7Z6K1	THAP5_HUMAN	THAP domain containing 5	315					cell cycle (GO:0007049)|negative regulation of cell cycle (GO:0045786)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protease binding (GO:0002020)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8						AAAACTTCTGTCCCATAGTCT	0.348																																						ENST00000415914.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8						c.(943-945)Aca>Gca		THAP domain containing 5							122.0	120.0	121.0					7																	108204880		2203	4299	6502	SO:0001583	missense	168451				cell cycle|negative regulation of cell cycle	nucleus	DNA binding|metal ion binding|protease binding	g.chr7:108204880T>C	AL833137	CCDS34734.2, CCDS47687.1	7q22.3	2013-01-25			ENSG00000177683	ENSG00000177683		"""THAP (C2CH-type zinc finger) domain containing"""	23188	protein-coding gene	gene with protein product		612534				12575992	Standard	NM_001287598		Approved	DKFZp313O1132	uc003vfm.3	Q7Z6K1	OTTHUMG00000154951	ENST00000415914.3:c.943A>G	7.37:g.108204880T>C	ENSP00000400500:p.Thr315Ala					THAP5_ENST00000313516.5_Missense_Mutation_p.T273A|THAP5_ENST00000493722.1_5'UTR	p.T315A	NM_001130475.1	NP_001123947.1	Q7Z6K1	THAP5_HUMAN			3	1096	-			315						Missense_Mutation	SNP	ENST00000415914.3	37	c.943A>G	CCDS47687.1	.	.	.	.	.	.	.	.	.	.	T	8.984	0.976077	0.18736	.	.	ENSG00000177683	ENST00000415914;ENST00000313516	D;D	0.96365	-3.99;-2.49	4.45	3.07	0.35406	.	3.563700	0.01607	N	0.022357	D	0.91260	0.7245	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.82212	-0.0569	9	.	.	.	.	5.4685	0.16656	0.0:0.1245:0.1611:0.7144	.	315	Q7Z6K1	THAP5_HUMAN	A	315;273	ENSP00000400500:T315A;ENSP00000322440:T273A	.	T	-	1	0	THAP5	107992116	0.923000	0.31300	0.582000	0.28627	0.924000	0.55760	1.897000	0.39799	0.508000	0.28173	0.528000	0.53228	ACA		0.348	THAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337777.2	NM_182529		18	56	0	0	0	1	0	18	56				
SBK1	388228	broad.mit.edu	37	16	28331784	28331784	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr16:28331784C>T	ENST00000341901.4	+	4	1606	c.817C>T	c.(817-819)Cgc>Tgc	p.R273C		NM_001024401.2	NP_001019572.1	Q52WX2	SBK1_HUMAN	SH3 domain binding kinase 1	273	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|lung(3)|ovary(1)	5						GCAGCGGGGCCGCCTGCCGGG	0.736																																						ENST00000341901.4																			0				kidney(1)|lung(3)|ovary(1)	5						c.(817-819)Cgc>Tgc		SH3 domain binding kinase 1							8.0	13.0	11.0					16																	28331784		1862	3909	5771	SO:0001583	missense	388228					cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr16:28331784C>T		CCDS32416.1	16p11.2	2013-09-27	2013-09-27			ENSG00000188322			17699	protein-coding gene	gene with protein product			"""SH3-binding domain kinase 1"""				Standard	XM_005255315		Approved	Sbk	uc002dpd.3	Q52WX2		ENST00000341901.4:c.817C>T	16.37:g.28331784C>T	ENSP00000343248:p.Arg273Cys						p.R273C	NM_001024401.2	NP_001019572.1	Q52WX2	SBK1_HUMAN			4	1606	+			273			Protein kinase.			Missense_Mutation	SNP	ENST00000341901.4	37	c.817C>T	CCDS32416.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.769023	0.49680	.	.	ENSG00000188322	ENST00000341901	T	0.66638	-0.22	4.02	2.92	0.33932	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.055152	0.64402	D	0.000001	T	0.74137	0.3677	L	0.55017	1.72	0.48341	D	0.999634	D	0.89917	1.0	D	0.64506	0.926	T	0.77013	-0.2745	10	0.72032	D	0.01	-16.921	11.7693	0.51949	0.1893:0.8107:0.0:0.0	.	273	Q52WX2	SBK1_HUMAN	C	273	ENSP00000343248:R273C	ENSP00000343248:R273C	R	+	1	0	SBK1	28239285	0.999000	0.42202	1.000000	0.80357	0.966000	0.64601	3.544000	0.53640	1.767000	0.52121	0.462000	0.41574	CGC		0.736	SBK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387677.1	XM_370948		8	23	0	0	0	1	0	8	23				
C10orf88	80007	broad.mit.edu	37	10	124697528	124697528	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr10:124697528C>T	ENST00000481909.1	-	5	1020	c.796G>A	c.(796-798)Ggg>Agg	p.G266R	C10orf88_ENST00000368891.5_5'UTR	NM_024942.3	NP_079218.2	Q9H8K7	CJ088_HUMAN	chromosome 10 open reading frame 88	266										breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)	18		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)		GTCACGTTCCCAGATGTCAAT	0.398																																						ENST00000481909.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)	18						c.(796-798)Ggg>Agg		chromosome 10 open reading frame 88							115.0	109.0	111.0					10																	124697528		2203	4300	6503	SO:0001583	missense	80007							g.chr10:124697528C>T	AK023552	CCDS7632.1	10q26.13	2012-11-09			ENSG00000119965	ENSG00000119965			25822	protein-coding gene	gene with protein product						12477932	Standard	NM_024942		Approved	FLJ13490, Em:AC073585.5	uc001lgw.2	Q9H8K7	OTTHUMG00000019190	ENST00000481909.1:c.796G>A	10.37:g.124697528C>T	ENSP00000419126:p.Gly266Arg					C10orf88_ENST00000368891.5_5'UTR	p.G266R	NM_024942.3	NP_079218.2	Q9H8K7	CJ088_HUMAN		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)	5	1020	-		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)	266					Q0P6C6|Q8N597	Missense_Mutation	SNP	ENST00000481909.1	37	c.796G>A	CCDS7632.1	.	.	.	.	.	.	.	.	.	.	C	10.14	1.269451	0.23221	.	.	ENSG00000119965	ENST00000481909	.	.	.	4.31	1.24	0.21308	.	0.597927	0.15298	U	0.269775	T	0.36799	0.0980	M	0.71581	2.175	0.09310	N	1	P	0.36990	0.577	B	0.38655	0.278	T	0.19614	-1.0300	9	0.20046	T	0.44	.	4.8518	0.13540	0.1745:0.6385:0.0:0.187	.	266	Q9H8K7	CJ088_HUMAN	R	266	.	ENSP00000419126:G266R	G	-	1	0	C10orf88	124687518	0.322000	0.24634	0.004000	0.12327	0.488000	0.33401	0.945000	0.29056	0.014000	0.14944	0.591000	0.81541	GGG		0.398	C10orf88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050807.1	NM_024942		12	54	0	0	0	1	0	12	54				
ZNF326	284695	broad.mit.edu	37	1	90470707	90470707	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr1:90470707A>G	ENST00000340281.4	+	4	256	c.113A>G	c.(112-114)tAt>tGt	p.Y38C	ZNF326_ENST00000361911.5_Missense_Mutation_p.Y38C|ZNF326_ENST00000455342.2_Intron|ZNF326_ENST00000370447.3_Missense_Mutation_p.Y38C	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326	38	Gly-rich.|Mediates transcriptional activation. {ECO:0000250}.				mRNA processing (GO:0006397)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of DNA-templated transcription, elongation (GO:0032784)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	DBIRD complex (GO:0044609)|nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		GATCGTGACTATGGCCATGGA	0.413																																						ENST00000340281.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25						c.(112-114)tAt>tGt		zinc finger protein 326							114.0	116.0	115.0					1																	90470707		2203	4300	6503	SO:0001583	missense	284695				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	DNA binding	g.chr1:90470707A>G	BC013102	CCDS727.1, CCDS728.1	1p22	2012-04-19			ENSG00000162664	ENSG00000162664		"""Zinc fingers, C2H2-type"""	14104	protein-coding gene	gene with protein product	"""ZNF-protein interacting with nuclear mRNPs and DBC1"""	614601				22446626	Standard	NM_182976		Approved	Zfp326, ZAN75, FLJ20403, ZIRD	uc001dnq.2	Q5BKZ1	OTTHUMG00000010675	ENST00000340281.4:c.113A>G	1.37:g.90470707A>G	ENSP00000340796:p.Tyr38Cys					ZNF326_ENST00000455342.2_Intron|ZNF326_ENST00000361911.5_Missense_Mutation_p.Y38C|ZNF326_ENST00000370447.2_Missense_Mutation_p.Y38C	p.Y38C	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN		all cancers(265;0.00728)|Epithelial(280;0.0265)	4	256	+		all_lung(203;0.0116)|Lung NSC(277;0.0417)	38			Gly-rich.|Mediates transcriptional activation (By similarity).		A8MYX1|B4DLN0|B4E179|Q5VW93|Q5VW94|Q5VW96|Q5VW97|Q6NSA2|Q7Z638|Q7Z6C2	Missense_Mutation	SNP	ENST00000340281.4	37	c.113A>G	CCDS727.1	.	.	.	.	.	.	.	.	.	.	A	17.79	3.475319	0.63737	.	.	ENSG00000162664	ENST00000394590;ENST00000340281;ENST00000361911;ENST00000370447	T;T	0.55052	0.78;0.54	5.4	5.4	0.78164	.	0.236115	0.35936	N	0.002891	T	0.55016	0.1894	L	0.40543	1.245	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	T	0.59820	-0.7382	10	0.54805	T	0.06	-9.9152	13.973	0.64252	1.0:0.0:0.0:0.0	.	38;38	A8MYX1;Q5BKZ1	.;ZN326_HUMAN	C	38	ENSP00000340796:Y38C;ENSP00000359476:Y38C	ENSP00000340796:Y38C	Y	+	2	0	ZNF326	90243295	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.046000	0.71029	2.030000	0.59900	0.383000	0.25322	TAT		0.413	ZNF326-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029428.2	NM_181781		16	54	0	0	0	1	0	16	54				
ZNF827	152485	broad.mit.edu	37	4	146697081	146697081	+	Silent	SNP	G	G	A			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr4:146697081G>A	ENST00000508784.1	-	10	2780	c.2553C>T	c.(2551-2553)ccC>ccT	p.P851P	ZNF827_ENST00000513320.1_Silent_p.P501P|ZNF827_ENST00000379448.4_Silent_p.P851P			Q17R98	ZN827_HUMAN	zinc finger protein 827	851					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					TAGCAGCATAGGGGCACAAGT	0.498																																						ENST00000508784.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(2551-2553)ccC>ccT		zinc finger protein 827							138.0	118.0	125.0					4																	146697081		2203	4300	6503	SO:0001819	synonymous_variant	152485				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:146697081G>A	AK091130	CCDS34072.1	4q31.22	2013-01-08			ENSG00000151612	ENSG00000151612		"""Zinc fingers, C2H2-type"""	27193	protein-coding gene	gene with protein product						12477932	Standard	NM_178835		Approved		uc003ikm.3	Q17R98	OTTHUMG00000161362	ENST00000508784.1:c.2553C>T	4.37:g.146697081G>A						ZNF827_ENST00000513320.1_Silent_p.P501P|ZNF827_ENST00000379448.4_Silent_p.P851P	p.P851P			Q17R98	ZN827_HUMAN			10	2780	-	all_hematologic(180;0.151)		851					B7ZL52|Q7Z4S7|Q8N279	Silent	SNP	ENST00000508784.1	37	c.2553C>T																																																																																					0.498	ZNF827-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000364654.2	NM_178835		40	41	0	0	0	1	0	40	41				
ZAP70	7535	broad.mit.edu	37	2	98355914	98355914	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr2:98355914G>C	ENST00000264972.5	+	14	2028	c.1813G>C	c.(1813-1815)Gaa>Caa	p.E605Q	ZAP70_ENST00000442208.1_Missense_Mutation_p.E479Q|ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000451498.2_Missense_Mutation_p.E298Q	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	605					adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						CAGCAAGGTGGAAGGGCCCCC	0.687																																						ENST00000264972.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						c.(1813-1815)Gaa>Caa		zeta-chain (TCR) associated protein kinase 70kDa							44.0	40.0	41.0					2																	98355914		2203	4300	6503	SO:0001583	missense	7535				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr2:98355914G>C	L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"""SH2 domain containing"""	12858	protein-coding gene	gene with protein product		176947	"""zeta-chain (TCR) associated protein kinase (70 kD)"""	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.1813G>C	2.37:g.98355914G>C	ENSP00000264972:p.Glu605Gln					ZAP70_ENST00000442208.1_Missense_Mutation_p.E479Q|ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000451498.2_Missense_Mutation_p.E298Q	p.E605Q	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN			14	2028	+			605					A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Missense_Mutation	SNP	ENST00000264972.5	37	c.1813G>C	CCDS33254.1	.	.	.	.	.	.	.	.	.	.	G	14.57	2.574756	0.45902	.	.	ENSG00000115085	ENST00000264972;ENST00000442208;ENST00000451498	T;T;T	0.72615	-0.67;-0.67;-0.64	4.51	4.51	0.55191	.	0.000000	0.42682	U	0.000668	T	0.54127	0.1839	N	0.16903	0.455	0.33901	D	0.638524	B;B	0.25772	0.134;0.03	B;B	0.17098	0.017;0.008	T	0.65475	-0.6159	10	0.56958	D	0.05	.	13.1239	0.59342	0.0:0.0:1.0:0.0	.	479;605	P43403-3;P43403	.;ZAP70_HUMAN	Q	605;479;298	ENSP00000264972:E605Q;ENSP00000411141:E479Q;ENSP00000400475:E298Q	ENSP00000264972:E605Q	E	+	1	0	ZAP70	97722346	1.000000	0.71417	0.226000	0.23910	0.004000	0.04260	4.195000	0.58400	2.236000	0.73375	0.655000	0.94253	GAA		0.687	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329278.1			6	55	0	0	0	1	0	6	55				
TRIM59	286827	broad.mit.edu	37	3	160155772	160155772	+	Silent	SNP	T	T	A			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr3:160155772T>A	ENST00000309784.4	-	3	1385	c.1200A>T	c.(1198-1200)atA>atT	p.I400I	RP11-432B6.3_ENST00000483754.1_Intron|TRIM59_ENST00000543469.1_Intron	NM_173084.2	NP_775107.1	Q8IWR1	TRI59_HUMAN	tripartite motif containing 59	400					innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of viral entry into host cell (GO:0046597)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3)	15			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AATGGGAAACTATTTTCCACA	0.333																																						ENST00000309784.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3)	15						c.(1198-1200)atA>atT		tripartite motif containing 59							42.0	45.0	44.0					3																	160155772		2180	4290	6470	SO:0001819	synonymous_variant	286827					integral to membrane|intracellular	zinc ion binding	g.chr3:160155772T>A	AY159379	CCDS3190.1	3q26	2013-01-09	2011-01-25		ENSG00000213186	ENSG00000213186		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	30834	protein-coding gene	gene with protein product			"""tripartite motif-containing 57"", ""tripartite motif-containing 59"""	TRIM57		12095697	Standard	NM_173084		Approved	TSBF1, Mrf1, RNF104	uc003fdm.3	Q8IWR1	OTTHUMG00000159034	ENST00000309784.4:c.1200A>T	3.37:g.160155772T>A						RP11-432B6.3_ENST00000483754.1_Intron|TRIM59_ENST00000543469.1_Intron	p.I400I	NM_173084.2	NP_775107.1	Q8IWR1	TRI59_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		3	1385	-			400					A8K5G9|D3DNL9	Silent	SNP	ENST00000309784.4	37	c.1200A>T	CCDS3190.1																																																																																				0.333	TRIM59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352963.1	NM_173084		6	69	0	0	0	1	0	6	69				
BAGE2	85319	broad.mit.edu	37	21	11047508	11047508	+	RNA	SNP	A	A	G			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr21:11047508A>G	ENST00000470054.1	-	0	746							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGGTTGGTACAGATTTCATAA	0.343																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11047508A>G	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11047508A>G												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	746	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.343	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		7	312	0	0	0	1	0	7	312				
ZNF335	63925	broad.mit.edu	37	20	44586291	44586291	+	Silent	SNP	C	C	T	rs146076876		TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr20:44586291C>T	ENST00000322927.2	-	17	2476	c.2376G>A	c.(2374-2376)acG>acA	p.T792T	ZNF335_ENST00000426788.1_Silent_p.T637T	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	792					brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				AGGCTGTCTGCGTGGCCATCG	0.612																																						ENST00000322927.2																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51						c.(2374-2376)acG>acA		zinc finger protein 335		C		0,4406		0,0,2203	65.0	58.0	61.0		2376	-10.0	0.4	20	dbSNP_134	61	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZNF335	NM_022095.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		792/1343	44586291	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	63925				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:44586291C>T	AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"""Zinc fingers, C2H2-type"""	15807	protein-coding gene	gene with protein product	"""NRC-interacting factor 1"""	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.2376G>A	20.37:g.44586291C>T						ZNF335_ENST00000426788.1_Silent_p.T637T	p.T792T	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN			17	2476	-		Myeloproliferative disorder(115;0.0122)	792					B4DLG7|Q548D0|Q9H684	Silent	SNP	ENST00000322927.2	37	c.2376G>A	CCDS13389.1																																																																																				0.612	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079553.1	NM_022095		15	49	0	0	0	1	0	15	49				
DNAH9	1770	broad.mit.edu	37	17	11572384	11572384	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr17:11572384G>A	ENST00000262442.4	+	16	2803	c.2735G>A	c.(2734-2736)tGt>tAt	p.C912Y	DNAH9_ENST00000454412.2_Missense_Mutation_p.C912Y	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	912	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TTTTCAGAGTGTAAGGCAGGA	0.423																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(2734-2736)tGt>tAt		dynein, axonemal, heavy chain 9							94.0	91.0	92.0					17																	11572384		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11572384G>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.2735G>A	17.37:g.11572384G>A	ENSP00000262442:p.Cys912Tyr					DNAH9_ENST00000454412.2_Missense_Mutation_p.C912Y	p.C912Y	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	16	2803	+		Breast(5;0.0122)|all_epithelial(5;0.131)	912			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.2735G>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	11.41	1.629720	0.28978	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.25579	1.83;1.79	5.6	2.33	0.28932	.	1.513270	0.03485	N	0.215677	T	0.23133	0.0559	L	0.36672	1.1	0.22489	N	0.999053	B	0.17268	0.021	B	0.13407	0.009	T	0.25745	-1.0123	10	0.62326	D	0.03	.	6.128	0.20189	0.226:0.4009:0.3731:0.0	.	912	Q9NYC9	DYH9_HUMAN	Y	912	ENSP00000262442:C912Y;ENSP00000414874:C912Y	ENSP00000262442:C912Y	C	+	2	0	DNAH9	11513109	0.001000	0.12720	0.052000	0.19188	0.982000	0.71751	1.177000	0.31969	0.658000	0.30925	0.655000	0.94253	TGT		0.423	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		13	74	0	0	0	1	0	13	74				
GABBR1	2550	broad.mit.edu	37	6	29589031	29589031	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr6:29589031C>T	ENST00000377034.4	-	11	1505	c.1170G>A	c.(1168-1170)tgG>tgA	p.W390*	GABBR1_ENST00000355973.3_Nonsense_Mutation_p.W273*|GABBR1_ENST00000377012.4_Nonsense_Mutation_p.W273*|GABBR1_ENST00000376977.3_Nonsense_Mutation_p.W390*|GABBR1_ENST00000377016.4_Nonsense_Mutation_p.W328*	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	390					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	CAATGAGGAACCAGACGTACT	0.458																																						ENST00000377034.4																			0				endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1168-1170)tgG>tgA		gamma-aminobutyric acid (GABA) B receptor, 1	Baclofen(DB00181)|Progabide(DB00837)						150.0	120.0	131.0					6																	29589031		1511	2709	4220	SO:0001587	stop_gained	2550				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr6:29589031C>T	Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4070	protein-coding gene	gene with protein product	"""GABA-B receptor"""	603540				9753614, 9798068	Standard	NM_001470		Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.1170G>A	6.37:g.29589031C>T	ENSP00000366233:p.Trp390*					GABBR1_ENST00000355973.3_Nonsense_Mutation_p.W273*|GABBR1_ENST00000377012.4_Nonsense_Mutation_p.W273*|GABBR1_ENST00000377016.4_Nonsense_Mutation_p.W328*|GABBR1_ENST00000376977.3_Nonsense_Mutation_p.W390*	p.W390*	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN			11	1505	-			390					B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	Nonsense_Mutation	SNP	ENST00000377034.4	37	c.1170G>A	CCDS4663.1	.	.	.	.	.	.	.	.	.	.	c	37	6.427346	0.97559	.	.	ENSG00000204681	ENST00000355973;ENST00000376977;ENST00000377016;ENST00000377012;ENST00000377034	.	.	.	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.2327	16.6266	0.84972	0.0:1.0:0.0:0.0	.	.	.	.	X	273;390;328;273;390	.	ENSP00000348248:W273X	W	-	3	0	GABBR1	29697010	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.381000	0.79718	2.546000	0.85860	0.632000	0.83419	TGG		0.458	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076141.3			12	43	0	0	0	1	0	12	43				
NOTCH1	4851	broad.mit.edu	37	9	139412252	139412252	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr9:139412252C>T	ENST00000277541.6	-	8	1468	c.1393G>A	c.(1393-1395)Gcc>Acc	p.A465T	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	465	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AGGCAGGTGGCGTCGTTCTGG	0.672			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(1393-1395)Gcc>Acc		notch 1							58.0	65.0	62.0					9																	139412252		2160	4236	6396	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139412252C>T	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1393G>A	9.37:g.139412252C>T	ENSP00000277541:p.Ala465Thr	HNSCC(8;0.001)					p.A465T	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	8	1468	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	465			EGF-like 12; calcium-binding (Potential).		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.1393G>A	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	35	5.434800	0.96150	.	.	ENSG00000148400	ENST00000277541	D	0.91792	-2.91	4.57	4.57	0.56435	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.95582	0.8564	M	0.81179	2.53	0.80722	D	1	D	0.61697	0.99	P	0.62813	0.907	D	0.96347	0.9255	10	0.87932	D	0	.	16.3317	0.83023	0.0:1.0:0.0:0.0	.	465	P46531	NOTC1_HUMAN	T	465	ENSP00000277541:A465T	ENSP00000277541:A465T	A	-	1	0	NOTCH1	138532073	1.000000	0.71417	0.989000	0.46669	0.924000	0.55760	5.872000	0.69636	2.088000	0.63022	0.462000	0.41574	GCC		0.672	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		91	72	0	0	0	1	0	91	72				
ABCA6	23460	broad.mit.edu	37	17	67124901	67124901	+	Silent	SNP	G	G	A			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr17:67124901G>A	ENST00000284425.2	-	8	1152	c.978C>T	c.(976-978)gtC>gtT	p.V326V		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	326					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					AATTGGTGAGGACAGCTTTCT	0.398																																						ENST00000284425.2																			0				breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82						c.(976-978)gtC>gtT		ATP-binding cassette, sub-family A (ABC1), member 6							116.0	112.0	114.0					17																	67124901		2203	4300	6503	SO:0001819	synonymous_variant	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67124901G>A	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.978C>T	17.37:g.67124901G>A							p.V326V	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN			8	1152	-	Breast(10;5.65e-12)		326					Q6NSH9|Q8N856|Q8WWZ6	Silent	SNP	ENST00000284425.2	37	c.978C>T	CCDS11683.1																																																																																				0.398	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284		18	80	0	0	0	1	0	18	80				
CIITA	4261	broad.mit.edu	37	16	11009437	11009437	+	Missense_Mutation	SNP	G	G	C	rs201571405		TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr16:11009437G>C	ENST00000324288.8	+	14	3032	c.2899G>C	c.(2899-2901)Gtc>Ctc	p.V967L	CIITA_ENST00000381835.5_Missense_Mutation_p.V383L	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	967			Missing (in BLS2).		aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						GCTGGGCCCTGTCTCAGGCCC	0.597			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """																																	ENST00000324288.8				Dom	yes		16	16p13	4261	T	"""class II, major histocompatibility complex, transactivator"""			L	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""		"""PMBL, Hodgkin Lymphona, """		0				central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						c.(2899-2901)Gtc>Ctc		class II, major histocompatibility complex, transactivator							100.0	95.0	96.0					16																	11009437		2197	4300	6497	SO:0001583	missense	4261				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding	g.chr16:11009437G>C	U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"""Nucleotide-binding domain and leucine rich repeat containing"""	7067	protein-coding gene	gene with protein product	"""NLR family, acid domain containing"", ""nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"""	600005	"""MHC class II transactivator"""	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.2899G>C	16.37:g.11009437G>C	ENSP00000316328:p.Val967Leu					CIITA_ENST00000381835.5_Missense_Mutation_p.V383L	p.V967L	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN			14	3032	+			967		Missing (in BLS2).			A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Missense_Mutation	SNP	ENST00000324288.8	37	c.2899G>C	CCDS10544.1	.	.	.	.	.	.	.	.	.	.	G	3.727	-0.056412	0.07362	.	.	ENSG00000179583	ENST00000324288;ENST00000381835	T;T	0.72282	-0.64;1.7	4.6	-2.97	0.05530	.	1.038680	0.07700	N	0.940254	T	0.59224	0.2178	L	0.50333	1.59	0.09310	N	1	P;B;B	0.36282	0.546;0.003;0.001	B;B;B	0.28916	0.096;0.012;0.002	T	0.40646	-0.9552	10	0.21014	T	0.42	.	13.4347	0.61077	0.2601:0.0:0.7399:0.0	.	383;967;967	E9PFE0;A0N0N9;P33076	.;.;C2TA_HUMAN	L	967;383	ENSP00000316328:V967L;ENSP00000371257:V383L	ENSP00000316328:V967L	V	+	1	0	CIITA	10916938	0.000000	0.05858	0.000000	0.03702	0.095000	0.18619	0.544000	0.23253	-0.885000	0.03971	-1.137000	0.01932	GTC		0.597	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251966.2	NM_000246		24	36	0	0	0	1	0	24	36				
SH2B3	10019	broad.mit.edu	37	12	111885008	111885008	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr12:111885008G>C	ENST00000341259.2	+	5	1363	c.1006G>C	c.(1006-1008)Gat>Cat	p.D336H	SH2B3_ENST00000538307.1_Missense_Mutation_p.D134H	NM_005475.2	NP_005466.1	Q9UQQ2	SH2B3_HUMAN	SH2B adaptor protein 3	336					blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|embryonic hemopoiesis (GO:0035162)|intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)	phosphate ion binding (GO:0042301)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	10					Pazopanib(DB06589)	GGGCAGCACAGATTCCCTTAA	0.572																																						ENST00000341259.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	10						c.(1006-1008)Gat>Cat		SH2B adaptor protein 3							94.0	95.0	95.0					12																	111885008		2203	4300	6503	SO:0001583	missense	10019				blood coagulation	cytosol	signal transducer activity	g.chr12:111885008G>C	AF055581	CCDS9153.1	12q24.12	2014-09-17				ENSG00000111252		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	29605	protein-coding gene	gene with protein product	"""lymphocyte adaptor protein"""	605093				10799879	Standard	NM_005475		Approved	LNK, IDDM20	uc001tse.3	Q9UQQ2		ENST00000341259.2:c.1006G>C	12.37:g.111885008G>C	ENSP00000345492:p.Asp336His					SH2B3_ENST00000538307.1_Missense_Mutation_p.D134H	p.D336H	NM_005475.2	NP_005466.1	Q9UQQ2	SH2B3_HUMAN			5	1363	+			336					B9EGG5|O95184	Missense_Mutation	SNP	ENST00000341259.2	37	c.1006G>C	CCDS9153.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.274515	0.59649	.	.	ENSG00000111252	ENST00000341259;ENST00000551001;ENST00000538307	T;T	0.36520	1.28;1.25	5.3	5.3	0.74995	.	0.369863	0.32258	N	0.006356	T	0.49321	0.1550	M	0.62723	1.935	0.58432	D	0.999996	B;D;B	0.63880	0.317;0.993;0.124	B;P;B	0.52856	0.164;0.711;0.051	T	0.50482	-0.8823	10	0.54805	T	0.06	-2.8824	16.1087	0.81244	0.0:0.0:1.0:0.0	.	134;200;336	F5GYM4;Q59H48;Q9UQQ2	.;.;SH2B3_HUMAN	H	336;146;134	ENSP00000345492:D336H;ENSP00000440597:D134H	ENSP00000345492:D336H	D	+	1	0	SH2B3	110369391	1.000000	0.71417	0.995000	0.50966	0.759000	0.43091	6.930000	0.75858	2.482000	0.83794	0.462000	0.41574	GAT		0.572	SH2B3-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000404779.1	NM_005475		40	49	0	0	0	1	0	40	49				
ITGA4	3676	broad.mit.edu	37	2	182389978	182389978	+	Missense_Mutation	SNP	G	G	C	rs369569983		TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr2:182389978G>C	ENST00000397033.2	+	21	2729	c.2299G>C	c.(2299-2301)Gca>Cca	p.A767P		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	767					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	AGTGACTGTAGCAATACCTTT	0.363																																						ENST00000397033.2																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(2299-2301)Gca>Cca		integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	Natalizumab(DB00108)	G	PRO/ALA	0,3720		0,0,1860	113.0	108.0	110.0		2299	0.6	0.0	2		110	1,8225		0,1,4112	no	missense	ITGA4	NM_000885.4	27	0,1,5972	CC,CG,GG		0.0122,0.0,0.0084	benign	767/1033	182389978	1,11945	1860	4113	5973	SO:0001583	missense	3676				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	g.chr2:182389978G>C		CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"""CD molecules"", ""Integrins"""	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.2299G>C	2.37:g.182389978G>C	ENSP00000380227:p.Ala767Pro						p.A767P	NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		21	2729	+			767					D3DPG4|Q7Z4L6	Missense_Mutation	SNP	ENST00000397033.2	37	c.2299G>C	CCDS42788.1	.	.	.	.	.	.	.	.	.	.	G	8.867	0.948372	0.18356	0.0	1.22E-4	ENSG00000115232	ENST00000397033	T	0.46451	0.87	6.16	0.548	0.17208	Integrin alpha-2 (1);	0.883173	0.10324	N	0.688409	T	0.29491	0.0735	N	0.19112	0.55	0.09310	N	1	P;P	0.39071	0.658;0.658	B;B	0.42188	0.379;0.379	T	0.19451	-1.0305	10	0.36615	T	0.2	.	7.9621	0.30076	0.4655:0.1075:0.427:0.0	.	589;767	Q59H74;P13612	.;ITA4_HUMAN	P	767	ENSP00000380227:A767P	ENSP00000380227:A767P	A	+	1	0	ITGA4	182098223	0.002000	0.14202	0.004000	0.12327	0.099000	0.18886	0.109000	0.15417	0.142000	0.18901	0.650000	0.86243	GCA		0.363	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1			3	21	0	0	0	1	0	3	21				
UNC13C	440279	broad.mit.edu	37	15	54306941	54306941	+	Missense_Mutation	SNP	A	A	T			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr15:54306941A>T	ENST00000260323.11	+	1	1841	c.1841A>T	c.(1840-1842)cAa>cTa	p.Q614L	UNC13C_ENST00000537900.1_Missense_Mutation_p.Q614L|UNC13C_ENST00000545554.1_Missense_Mutation_p.Q614L	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	614					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CAGGGTATCCAAGGGCAGACT	0.498																																						ENST00000545554.1																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121						c.(1840-1842)cAa>cTa		unc-13 homolog C (C. elegans)							149.0	144.0	145.0					15																	54306941		2020	4189	6209	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54306941A>T	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.1841A>T	15.37:g.54306941A>T	ENSP00000260323:p.Gln614Leu					UNC13C_ENST00000260323.11_Missense_Mutation_p.Q614L|UNC13C_ENST00000537900.1_Missense_Mutation_p.Q614L	p.Q614L			Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	1	1841	+			614					Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.1841A>T	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	A	7.779	0.709189	0.15239	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.78595	-1.19;-1.19;-1.19	5.16	1.29	0.21616	.	.	.	.	.	T	0.59985	0.2234	N	0.14661	0.345	0.21290	N	0.999732	B	0.02656	0.0	B	0.01281	0.0	T	0.46735	-0.9170	9	0.39692	T	0.17	.	8.9225	0.35621	0.3149:0.563:0.0:0.1221	.	614	Q8NB66	UN13C_HUMAN	L	614	ENSP00000260323:Q614L;ENSP00000438156:Q614L;ENSP00000442569:Q614L	ENSP00000260323:Q614L	Q	+	2	0	UNC13C	52094233	0.701000	0.27806	0.006000	0.13384	0.803000	0.45373	0.796000	0.26986	0.045000	0.15804	0.528000	0.53228	CAA		0.498	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		13	66	0	0	0	1	0	13	66				
HABP2	3026	broad.mit.edu	37	10	115336941	115336941	+	Missense_Mutation	SNP	C	C	T	rs78201625	byFrequency	TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr10:115336941C>T	ENST00000351270.3	+	5	460	c.364C>T	c.(364-366)Cgg>Tgg	p.R122W	HABP2_ENST00000537906.1_Silent_p.A110A|HABP2_ENST00000542051.1_Missense_Mutation_p.R96W|HABP2_ENST00000541666.1_Missense_Mutation_p.R122W	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN	hyaluronan binding protein 2	122	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	glycosaminoglycan binding (GO:0005539)|serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)	Hyaluronan(DB08818)	CCCATGTGGCCGGGGCCAATG	0.488													C|||	4	0.000798722	0.0	0.0014	5008	,	,		20147	0.0		0.002	False		,,,				2504	0.001					ENST00000351270.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23						c.(364-366)Cgg>Tgg		hyaluronan binding protein 2		C	TRP/ARG,TRP/ARG	4,4402	8.1+/-20.4	0,4,2199	156.0	133.0	140.0		286,364	3.6	0.8	10	dbSNP_131	140	19,8581	14.0+/-48.4	0,19,4281	yes	missense,missense	HABP2	NM_001177660.1,NM_004132.3	101,101	0,23,6480	TT,TC,CC		0.2209,0.0908,0.1768	probably-damaging,probably-damaging	96/535,122/561	115336941	23,12983	2203	4300	6503	SO:0001583	missense	3026				cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity	g.chr10:115336941C>T		CCDS7577.1, CCDS53579.1	10q25.3	2008-08-01	2001-11-28		ENSG00000148702	ENSG00000148702			4798	protein-coding gene	gene with protein product	"""plasma hyaluronan binding protein"", ""factor VII activating protein"""	603924	"""hyaluronan-binding protein 2"""			8827452, 12437095	Standard	NM_004132		Approved	HABP, PHBP, HGFAL, FSAP	uc001lai.4	Q14520	OTTHUMG00000019073	ENST00000351270.3:c.364C>T	10.37:g.115336941C>T	ENSP00000277903:p.Arg122Trp					HABP2_ENST00000542051.1_Missense_Mutation_p.R96W|HABP2_ENST00000537906.1_Silent_p.A110A|HABP2_ENST00000541666.1_Missense_Mutation_p.R122W	p.R122W	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN		Epithelial(162;0.00319)|all cancers(201;0.0112)	5	460	+		Colorectal(252;0.0233)|Breast(234;0.0672)	122			EGF-like 2.		A8K467|B7Z8U5|F5H5M6|O00663	Missense_Mutation	SNP	ENST00000351270.3	37	c.364C>T	CCDS7577.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	20.8	4.057334	0.76074	9.08E-4	0.002209	ENSG00000148702	ENST00000542051;ENST00000351270;ENST00000541666	T;T;T	0.61627	0.09;0.09;0.09	5.65	3.63	0.41609	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.566502	0.19323	N	0.117088	T	0.62356	0.2421	L	0.59436	1.845	0.58432	D	0.999999	D	0.69078	0.997	P	0.53360	0.724	T	0.63519	-0.6619	10	0.49607	T	0.09	.	10.7897	0.46426	0.4819:0.5181:0.0:0.0	.	122	Q14520	HABP2_HUMAN	W	96;122;122	ENSP00000443283:R96W;ENSP00000277903:R122W;ENSP00000438373:R122W	ENSP00000277903:R122W	R	+	1	2	HABP2	115326931	0.108000	0.22018	0.765000	0.31456	0.982000	0.71751	0.929000	0.28844	1.374000	0.46228	0.655000	0.94253	CGG		0.488	HABP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050428.1	NM_004132		8	106	0	0	0	1	0	8	106				
AHNAK2	113146	broad.mit.edu	37	14	105413228	105413228	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr14:105413228C>A	ENST00000333244.5	-	7	8679	c.8560G>T	c.(8560-8562)Ggg>Tgg	p.G2854W	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2854						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTAAGATCCCCTTGCATGGAG	0.632																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(8560-8562)Ggg>Tgg		AHNAK nucleoprotein 2							133.0	152.0	146.0					14																	105413228		1970	4154	6124	SO:0001583	missense	113146					nucleus		g.chr14:105413228C>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.8560G>T	14.37:g.105413228C>A	ENSP00000353114:p.Gly2854Trp					AHNAK2_ENST00000557457.1_Intron	p.G2854W	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	8679	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	2854					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.8560G>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	13.22	2.173410	0.38413	.	.	ENSG00000185567	ENST00000333244	T	0.03413	3.94	3.07	3.07	0.35406	.	.	.	.	.	T	0.21103	0.0508	M	0.93197	3.39	0.09310	N	1	D	0.76494	0.999	D	0.69307	0.963	T	0.04481	-1.0948	9	0.54805	T	0.06	.	8.136	0.31054	0.0:0.8829:0.0:0.1171	.	2854	Q8IVF2	AHNK2_HUMAN	W	2854	ENSP00000353114:G2854W	ENSP00000353114:G2854W	G	-	1	0	AHNAK2	104484273	.	.	0.001000	0.08648	0.010000	0.07245	.	.	1.569000	0.49696	0.306000	0.20318	GGG		0.632	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		33	299	1	0	8.73648e-17	1	1.02172e-16	33	299				
KMT2D	8085	broad.mit.edu	37	12	49436343	49436343	+	Splice_Site	SNP	C	C	T			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr12:49436343C>T	ENST00000301067.7	-	27	5867		c.e27+1			NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D						chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GAGACACCAACCTAGAATCCA	0.582																																						ENST00000301067.7																			0											c.e27+1		lysine (K)-specific methyltransferase 2D							64.0	72.0	70.0					12																	49436343		2052	4185	6237	SO:0001630	splice_region_variant	8085							g.chr12:49436343C>T	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.5867+1G>A	12.37:g.49436343C>T								NM_003482.3	NP_003473.3					27	5867	-								O14687	Splice_Site	SNP	ENST00000301067.7	37		CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	19.18	3.777130	0.70107	.	.	ENSG00000167548	ENST00000301067	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0095	0.80391	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MLL2	47722610	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	4.558000	0.60789	2.514000	0.84764	0.561000	0.74099	.		0.582	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2		Intron	13	14	0	0	0	1	0	13	14				
TKTL2	84076	broad.mit.edu	37	4	164394587	164394587	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr4:164394587G>T	ENST00000280605.3	-	1	460	c.300C>A	c.(298-300)aaC>aaA	p.N100K		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	100						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GTTTCCTCAGGTTCAGCAAGT	0.552																																						ENST00000280605.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70						c.(298-300)aaC>aaA		transketolase-like 2							148.0	107.0	121.0					4																	164394587		2203	4300	6503	SO:0001583	missense	84076					cytoplasm	metal ion binding|transketolase activity	g.chr4:164394587G>T	BC028707	CCDS3805.1	4q32.2	2009-10-06			ENSG00000151005	ENSG00000151005			25313	protein-coding gene	gene with protein product	"""similar to transketolase"""					11230166	Standard	NM_032136		Approved	FLJ32975, DKFZP434L1717	uc003iqp.4	Q9H0I9	OTTHUMG00000161527	ENST00000280605.3:c.300C>A	4.37:g.164394587G>T	ENSP00000280605:p.Asn100Lys						p.N100K	NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN			1	460	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	100					A4FVB4|Q8NCT0|Q96M82	Missense_Mutation	SNP	ENST00000280605.3	37	c.300C>A	CCDS3805.1	.	.	.	.	.	.	.	.	.	.	G	12.87	2.067690	0.36470	.	.	ENSG00000151005	ENST00000280605	T	0.23950	1.88	4.26	4.26	0.50523	Transketolase, N-terminal (1);	0.185083	0.44097	D	0.000491	T	0.28830	0.0715	L	0.55103	1.725	0.51012	D	0.999906	B	0.20459	0.045	B	0.28553	0.091	T	0.09058	-1.0692	10	0.48119	T	0.1	-1.7886	14.9734	0.71251	0.0:0.0:1.0:0.0	.	100	Q9H0I9	TKTL2_HUMAN	K	100	ENSP00000280605:N100K	ENSP00000280605:N100K	N	-	3	2	TKTL2	164614037	1.000000	0.71417	0.526000	0.27913	0.649000	0.38597	2.886000	0.48578	2.650000	0.89964	0.561000	0.74099	AAC		0.552	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365207.1	NM_032136		24	24	1	0	1.64293e-13	1	1.84329e-13	24	24				
WHSC1L1	54904	broad.mit.edu	37	8	38146050	38146050	+	Silent	SNP	C	C	T			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr8:38146050C>T	ENST00000317025.8	-	19	3973	c.3456G>A	c.(3454-3456)acG>acA	p.T1152T	WHSC1L1_ENST00000433384.2_Silent_p.T1103T|WHSC1L1_ENST00000527502.1_Silent_p.T1152T	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	1152	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			CTCTCCGCTCCGTTTTGATGA	0.532			T	NUP98	AML																																	ENST00000317025.8				Dom	yes		8	8p12	54904	T	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)			L	NUP98		AML		0				NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(3454-3456)acG>acA		Wolf-Hirschhorn syndrome candidate 1-like 1							118.0	116.0	117.0					8																	38146050		1936	4144	6080	SO:0001819	synonymous_variant	54904				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding	g.chr8:38146050C>T	AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.3456G>A	8.37:g.38146050C>T						WHSC1L1_ENST00000433384.2_Silent_p.T1103T|WHSC1L1_ENST00000527502.1_Silent_p.T1152T	p.T1152T	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)		19	3973	-	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	1152			SET.		B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Silent	SNP	ENST00000317025.8	37	c.3456G>A	CCDS43729.1																																																																																				0.532	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381924.3	NM_023034		16	75	0	0	0	1	0	16	75				
EXD2	55218	broad.mit.edu	37	14	69704454	69704454	+	Silent	SNP	C	C	T	rs371199925		TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr14:69704454C>T	ENST00000409018.3	+	8	1583	c.1455C>T	c.(1453-1455)atC>atT	p.I485I	EXD2_ENST00000449989.1_Silent_p.I360I|EXD2_ENST00000409242.1_Silent_p.I360I|EXD2_ENST00000312994.5_Silent_p.I485I|RP11-363J20.2_ENST00000556316.1_lincRNA|EXD2_ENST00000409675.1_Silent_p.I360I|EXD2_ENST00000409949.1_Silent_p.I360I|EXD2_ENST00000492815.1_3'UTR|EXD2_ENST00000409014.1_Silent_p.I360I	NM_001193361.1	NP_001180290.1	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2	485							3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						AGGCCCCCATCGGCTCTGAGG	0.632																																						ENST00000409014.1																			0				breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						c.(1078-1080)atC>atT		exonuclease 3'-5' domain containing 2							37.0	31.0	33.0					14																	69704454		2203	4300	6503	SO:0001819	synonymous_variant	55218				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding	g.chr14:69704454C>T	AK001600	CCDS9793.1, CCDS53902.1	14q24.1	2009-02-24	2009-02-24	2009-02-24	ENSG00000081177	ENSG00000081177			20217	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 114"", ""exonuclease 3'-5' domain-like 2"""	C14orf114, EXDL2			Standard	NM_018199		Approved	FLJ10738	uc001xkv.3	Q9NVH0	OTTHUMG00000154496	ENST00000409018.3:c.1455C>T	14.37:g.69704454C>T						EXD2_ENST00000492815.1_3'UTR|EXD2_ENST00000449989.1_Silent_p.I360I|EXD2_ENST00000409949.1_Silent_p.I360I|EXD2_ENST00000409675.1_Silent_p.I360I|EXD2_ENST00000409242.1_Silent_p.I360I|EXD2_ENST00000409018.3_Silent_p.I485I|EXD2_ENST00000312994.5_Silent_p.I485I	p.I360I	NM_001193360.1	NP_001180289.1	Q9NVH0	EXD2_HUMAN			10	1737	+			360					B4DIH6|G5E947|Q6AWB6|Q8N3D3	Silent	SNP	ENST00000409018.3	37	c.1080C>T	CCDS53902.1																																																																																				0.632	EXD2-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000335504.1			9	35	0	0	0	1	0	9	35				
RNF216	54476	broad.mit.edu	37	7	5778919	5778919	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr7:5778919T>C	ENST00000425013.2	-	5	1162	c.938A>G	c.(937-939)tAt>tGt	p.Y313C	RNF216_ENST00000389902.3_Missense_Mutation_p.Y370C	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	313					apoptotic process (GO:0006915)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of defense response to virus by host (GO:0050691)|regulation of interferon-beta production (GO:0032648)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		ATTCAGATCATAATAATTCTT	0.264																																						ENST00000425013.2																		FBXL18/RNF216(2)	0				breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33						c.(937-939)tAt>tGt		ring finger protein 216							48.0	52.0	51.0					7																	5778919		2200	4294	6494	SO:0001583	missense	54476				apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding	g.chr7:5778919T>C	AY062174	CCDS34594.1, CCDS34595.1	7p22.1	2014-02-12	2007-08-20		ENSG00000011275	ENSG00000011275		"""RING-type (C3HC4) zinc fingers"""	21698	protein-coding gene	gene with protein product		609948					Standard	NM_207111		Approved	TRIAD3, UBCE7IP1, ZIN	uc003sox.2	Q9NWF9	OTTHUMG00000155500	ENST00000425013.2:c.938A>G	7.37:g.5778919T>C	ENSP00000404602:p.Tyr313Cys					RNF216_ENST00000389902.3_Missense_Mutation_p.Y370C	p.Y313C	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)	5	1162	-		Ovarian(82;0.07)	313					Q6Y691|Q75ML7|Q7Z2H7|Q7Z7C1|Q8NHW7|Q9NYT1	Missense_Mutation	SNP	ENST00000425013.2	37	c.938A>G	CCDS34595.1	.	.	.	.	.	.	.	.	.	.	T	12.55	1.972519	0.34848	.	.	ENSG00000011275	ENST00000425013;ENST00000389902;ENST00000458425	T;T	0.46819	0.87;0.86	5.96	4.79	0.61399	.	0.269762	0.32134	N	0.006527	T	0.32971	0.0847	L	0.27053	0.805	0.38253	D	0.941666	B;B	0.25272	0.078;0.122	B;B	0.26094	0.021;0.066	T	0.19910	-1.0291	10	0.38643	T	0.18	-4.4299	7.7673	0.28986	0.1253:0.0688:0.0:0.806	.	313;370	Q9NWF9;Q9NWF9-1	RN216_HUMAN;.	C	313;370;125	ENSP00000404602:Y313C;ENSP00000374552:Y370C	ENSP00000374552:Y370C	Y	-	2	0	RNF216	5745445	1.000000	0.71417	0.998000	0.56505	0.935000	0.57460	1.681000	0.37618	1.069000	0.40788	-0.335000	0.08231	TAT		0.264	RNF216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000340374.1	NM_207111		40	44	0	0	0	1	0	40	44				
NUP214	8021	broad.mit.edu	37	9	134019932	134019932	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr9:134019932C>A	ENST00000359428.5	+	12	1704	c.1560C>A	c.(1558-1560)ttC>ttA	p.F520L	RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000590461.1_RNA|RP11-544A12.4_ENST00000589540.1_RNA|RP11-544A12.4_ENST00000587264.1_RNA|NUP214_ENST00000411637.2_Missense_Mutation_p.F520L|RP11-544A12.4_ENST00000415391.2_RNA|NUP214_ENST00000451030.1_Missense_Mutation_p.F520L|RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000589667.1_RNA			P35658	NU214_HUMAN	nucleoporin 214kDa	520	11 X 5 AA approximate repeats.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		CATCAACCTTCTCTTTTGTTC	0.557			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""																																Pancreas(4;24 48 25510 30394 32571)	ENST00000359428.5				Dom	yes		9	9q34.1	8021	T	nucleoporin 214kDa (CAN)			L	"""DEK, SET, ABL1"""		"""AML, T-ALL"""		0				NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86						c.(1558-1560)ttC>ttA		nucleoporin 214kDa							102.0	104.0	103.0					9																	134019932		2203	4300	6503	SO:0001583	missense	8021				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	g.chr9:134019932C>A	X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"""nuclear pore complex protein Nup214"", ""CAN protein, putative oncogene"""	114350	"""nucleoporin 214kD (CAIN)"""			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.1560C>A	9.37:g.134019932C>A	ENSP00000352400:p.Phe520Leu					RP11-544A12.4_ENST00000590461.1_RNA|NUP214_ENST00000451030.1_Missense_Mutation_p.F520L|RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000589540.1_RNA|RP11-544A12.4_ENST00000587264.1_RNA|NUP214_ENST00000411637.2_Missense_Mutation_p.F520L|RP11-544A12.4_ENST00000589667.1_RNA|RP11-544A12.4_ENST00000587408.1_RNA	p.F520L			P35658	NU214_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)	12	1704	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	520			11 X 5 AA approximate repeats.		A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Missense_Mutation	SNP	ENST00000359428.5	37	c.1560C>A	CCDS6940.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.039715	0.75732	.	.	ENSG00000126883	ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375;ENST00000540899	T;T;T	0.37058	1.3;1.22;1.28	5.79	0.449	0.16619	.	0.000000	0.42821	D	0.000648	T	0.30885	0.0779	N	0.08118	0	0.47123	D	0.999321	D;D	0.76494	0.999;0.999	D;D	0.66602	0.945;0.945	T	0.06409	-1.0828	10	0.39692	T	0.17	-19.0313	8.4391	0.32805	0.0:0.5733:0.0:0.4267	.	520;520	P35658-4;P35658	.;NU214_HUMAN	L	520;520;520;520;113	ENSP00000352400:F520L;ENSP00000396576:F520L;ENSP00000405014:F520L	ENSP00000352400:F520L	F	+	3	2	NUP214	133009753	0.874000	0.30092	0.080000	0.20451	0.776000	0.43924	0.050000	0.14120	0.016000	0.14998	-0.137000	0.14449	TTC		0.557	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085		74	62	1	0	7.62596e-35	1	9.23142e-35	74	62				
RAPGEF1	2889	broad.mit.edu	37	9	134514093	134514093	+	Missense_Mutation	SNP	C	C	T	rs537239858		TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr9:134514093C>T	ENST00000372189.3	-	5	652	c.529G>A	c.(529-531)Gtg>Atg	p.V177M	RAPGEF1_ENST00000372190.3_Missense_Mutation_p.V195M|RAPGEF1_ENST00000372195.1_Missense_Mutation_p.V194M|RAPGEF1_ENST00000481260.1_5'UTR	NM_005312.2	NP_005303.2	Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	177					activation of MAPKK activity (GO:0000186)|blood vessel development (GO:0001568)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of Ras protein signal transduction (GO:0046580)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of neuron projection development (GO:0010976)|positive regulation of Rap GTPase activity (GO:0032854)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)	Rap guanyl-nucleotide exchange factor activity (GO:0017034)			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		TCTGAGTTCACGCCTTCCAGC	0.552																																						ENST00000372195.1																			0				NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39						c.(580-582)Gtg>Atg		Rap guanine nucleotide exchange factor (GEF) 1							94.0	97.0	96.0					9																	134514093		2118	4225	6343	SO:0001583	missense	2889				activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr9:134514093C>T	BC041710	CCDS48047.1	9q34.3	2008-02-05	2004-03-01	2004-03-02	ENSG00000107263	ENSG00000107263			4568	protein-coding gene	gene with protein product		600303	"""guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene)"""	GRF2		7959692, 7512734	Standard	NM_005312		Approved	C3G	uc022bos.1	Q13905	OTTHUMG00000020829	ENST00000372189.3:c.529G>A	9.37:g.134514093C>T	ENSP00000361263:p.Val177Met					RAPGEF1_ENST00000372189.3_Missense_Mutation_p.V177M|RAPGEF1_ENST00000372190.3_Missense_Mutation_p.V195M|RAPGEF1_ENST00000481260.1_5'UTR	p.V194M			Q13905	RPGF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)	5	823	-		Myeloproliferative disorder(178;0.204)	177					Q5JUE4|Q8IV73	Missense_Mutation	SNP	ENST00000372189.3	37	c.580G>A	CCDS48047.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.619501	0.87460	.	.	ENSG00000107263	ENST00000266110;ENST00000372195;ENST00000429421;ENST00000372189;ENST00000372190;ENST00000411834;ENST00000337036;ENST00000357686;ENST00000438647	T;T;T	0.37915	1.17;1.17;1.17	5.79	5.79	0.91817	.	0.395702	0.27513	N	0.019032	T	0.57213	0.2038	L	0.60455	1.87	0.51767	D	0.999934	D;D;D	0.76494	0.998;0.998;0.999	P;P;D	0.64595	0.847;0.847;0.927	T	0.55811	-0.8082	10	0.62326	D	0.03	.	19.0153	0.92892	0.0:1.0:0.0:0.0	.	194;177;195	Q68DL3;Q13905;Q13905-3	.;RPGF1_HUMAN;.	M	177;194;71;177;195;157;103;194;156	ENSP00000361269:V194M;ENSP00000361263:V177M;ENSP00000361264:V195M	ENSP00000266110:V177M	V	-	1	0	RAPGEF1	133503914	1.000000	0.71417	0.969000	0.41365	0.968000	0.65278	4.320000	0.59203	2.744000	0.94065	0.650000	0.86243	GTG		0.552	RAPGEF1-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054759.2	NM_005312		15	72	0	0	0	1	0	15	72				
RBMS2	5939	broad.mit.edu	37	12	56980705	56980705	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr12:56980705C>A	ENST00000262031.5	+	10	1041	c.946C>A	c.(946-948)Cct>Act	p.P316T	RBMS2_ENST00000552247.2_Intron|RBMS2_ENST00000550726.1_Missense_Mutation_p.P191T|RNU6-343P_ENST00000364709.1_RNA|RBMS2_ENST00000542360.1_Missense_Mutation_p.P171T	NM_002898.3	NP_002889.1	Q15434	RBMS2_HUMAN	RNA binding motif, single stranded interacting protein 2	316					RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(3)|skin(2)|urinary_tract(1)	18						CCTCATGCAGCCTTCAGTGAG	0.448																																						ENST00000262031.5																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(3)|skin(2)|urinary_tract(1)	18						c.(946-948)Cct>Act		RNA binding motif, single stranded interacting protein 2							132.0	124.0	127.0					12																	56980705		2203	4300	6503	SO:0001583	missense	5939				RNA processing	nucleus	nucleotide binding|RNA binding	g.chr12:56980705C>A	D28483	CCDS8923.1	12q13.13	2013-02-12			ENSG00000076067	ENSG00000076067		"""RNA binding motif (RRM) containing"""	9909	protein-coding gene	gene with protein product		602387				8041632	Standard	NM_002898		Approved	SCR3	uc001sln.2	Q15434	OTTHUMG00000170488	ENST00000262031.5:c.946C>A	12.37:g.56980705C>A	ENSP00000262031:p.Pro316Thr					RBMS2_ENST00000552247.2_Intron|RBMS2_ENST00000550726.1_Missense_Mutation_p.P191T|RBMS2_ENST00000542360.1_Missense_Mutation_p.P171T	p.P316T	NM_002898.3	NP_002889.1	Q15434	RBMS2_HUMAN			10	1041	+			316						Missense_Mutation	SNP	ENST00000262031.5	37	c.946C>A	CCDS8923.1	.	.	.	.	.	.	.	.	.	.	C	17.90	3.502072	0.64298	.	.	ENSG00000076067	ENST00000262031;ENST00000550726;ENST00000542360	T;T	0.24538	2.57;1.85	4.15	4.15	0.48705	.	0.092932	0.42964	U	0.000636	T	0.42653	0.1212	L	0.54323	1.7	0.58432	D	0.999994	D;P;B	0.61697	0.99;0.949;0.114	P;P;B	0.61003	0.882;0.875;0.115	T	0.25676	-1.0125	10	0.48119	T	0.1	.	16.4225	0.83771	0.0:1.0:0.0:0.0	.	171;191;316	F5H5C8;F8VV01;Q15434	.;.;RBMS2_HUMAN	T	316;191;171	ENSP00000262031:P316T;ENSP00000449678:P191T	ENSP00000262031:P316T	P	+	1	0	RBMS2	55266972	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.094000	0.64523	2.596000	0.87737	0.655000	0.94253	CCT		0.448	RBMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409366.2	NM_002898		23	118	1	0	2.41591e-17	1	2.84954e-17	23	118				
PRG4	10216	broad.mit.edu	37	1	186276064	186276064	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr1:186276064G>T	ENST00000445192.2	+	7	1258	c.1213G>T	c.(1213-1215)Gca>Tca	p.A405S	PRG4_ENST00000367483.4_Missense_Mutation_p.A364S|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Missense_Mutation_p.A312S|PRG4_ENST00000367486.3_Missense_Mutation_p.A362S	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	405	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CAAGGAGCCTGCACCCACCAC	0.657																																						ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1213-1215)Gca>Tca		proteoglycan 4							91.0	86.0	88.0					1																	186276064		2203	4297	6500	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276064G>T	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1213G>T	1.37:g.186276064G>T	ENSP00000399679:p.Ala405Ser					PRG4_ENST00000367483.4_Missense_Mutation_p.A364S|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Missense_Mutation_p.A312S|PRG4_ENST00000367486.3_Missense_Mutation_p.A362S	p.A405S	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1258	+			405			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.1213G>T	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	-	6.260	0.416005	0.11870	.	.	ENSG00000116690	ENST00000367486;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T	0.06142	3.34;3.44;3.39;3.46	3.29	-0.723	0.11181	.	.	.	.	.	T	0.03871	0.0109	L	0.34521	1.04	0.09310	N	1	B;B;B;B	0.13145	0.007;0.007;0.004;0.007	B;B;B;B	0.08055	0.003;0.003;0.001;0.003	T	0.46005	-0.9222	8	.	.	.	.	0.4948	0.00570	0.1791:0.2004:0.2175:0.4031	.	271;312;405;364	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	S	362;271;364;312;405	ENSP00000356456:A362S;ENSP00000356453:A364S;ENSP00000356455:A312S;ENSP00000399679:A405S	.	A	+	1	0	PRG4	184542687	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-0.332000	0.07904	0.056000	0.16144	-0.420000	0.06012	GCA		0.657	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		4	139	1	0	0.00024832	1	0.000257655	4	139				
FAHD2B	151313	broad.mit.edu	37	2	97757327	97757327	+	Silent	SNP	C	C	T			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr2:97757327C>T	ENST00000414820.1	-	3	387	c.117G>A	c.(115-117)ggG>ggA	p.G39G	FAHD2B_ENST00000440566.2_Silent_p.G39G|FAHD2B_ENST00000468548.1_Intron|FAHD2B_ENST00000272610.3_Silent_p.G39G			Q6P2I3	FAH2B_HUMAN	fumarylacetoacetate hydrolase domain containing 2B	39							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			kidney(5)|large_intestine(2)|lung(3)|skin(2)	12						CCAAGTGAGGCCCCACCAGGT	0.567																																						ENST00000414820.1																			0				kidney(5)|large_intestine(2)|lung(3)|skin(2)	12						c.(115-117)ggG>ggA		fumarylacetoacetate hydrolase domain containing 2B							44.0	44.0	44.0					2																	97757327		2203	4295	6498	SO:0001819	synonymous_variant	151313						hydrolase activity|metal ion binding	g.chr2:97757327C>T		CCDS2030.1	2q11.2	2012-06-29			ENSG00000144199	ENSG00000144199			25318	protein-coding gene	gene with protein product							Standard	NM_199336		Approved	DKFZp434N062	uc002sxm.3	Q6P2I3	OTTHUMG00000130533	ENST00000414820.1:c.117G>A	2.37:g.97757327C>T						FAHD2B_ENST00000468548.1_Intron|FAHD2B_ENST00000440566.2_Silent_p.G39G|FAHD2B_ENST00000272610.3_Silent_p.G39G	p.G39G			Q6P2I3	FAH2B_HUMAN			3	387	-			39					D3DXH7|Q8NDK1	Silent	SNP	ENST00000414820.1	37	c.117G>A	CCDS2030.1																																																																																				0.567	FAHD2B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339482.1	NM_199336		23	100	0	0	0	1	0	23	100				
DAK	26007	broad.mit.edu	37	11	61113862	61113862	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr11:61113862G>A	ENST00000394900.3	+	18	1844	c.1615G>A	c.(1615-1617)Gct>Act	p.A539T	CYB561A3_ENST00000540317.1_5'Flank	NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	539	DhaL. {ECO:0000255|PROSITE- ProRule:PRU00813}.				carbohydrate phosphorylation (GO:0046835)|cellular carbohydrate metabolic process (GO:0044262)|glycerol metabolic process (GO:0006071)|innate immune response (GO:0045087)|regulation of innate immune response (GO:0045088)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|FAD-AMP lyase (cyclizing) activity (GO:0034012)|glycerone kinase activity (GO:0004371)|metal ion binding (GO:0046872)|triokinase activity (GO:0050354)			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						GAATATGGAAGCTGGAGCCGG	0.647																																						ENST00000394900.3																			0				NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(1615-1617)Gct>Act		dihydroxyacetone kinase 2 homolog (S. cerevisiae)							65.0	76.0	72.0					11																	61113862		2203	4299	6502	SO:0001583	missense	26007				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding	g.chr11:61113862G>A		CCDS8003.1	11q12.2	2009-11-06	2006-04-04		ENSG00000149476	ENSG00000149476			24552	protein-coding gene	gene with protein product		615844	"""dihydroxyacetone kinase 2 homolog (yeast)"""				Standard	XM_005273898		Approved	DKFZP586B1621, NET45	uc001nre.3	Q3LXA3	OTTHUMG00000168076	ENST00000394900.3:c.1615G>A	11.37:g.61113862G>A	ENSP00000378360:p.Ala539Thr						p.A539T	NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN			18	1844	+			539			DhaL.		Q2L9C1|Q53EQ9|Q9BVA7|Q9H895	Missense_Mutation	SNP	ENST00000394900.3	37	c.1615G>A	CCDS8003.1	.	.	.	.	.	.	.	.	.	.	G	36	5.694462	0.96793	.	.	ENSG00000149476	ENST00000394900	T	0.51817	0.69	5.52	5.52	0.82312	Dak phosphatase (3);	0.000000	0.85682	D	0.000000	T	0.74749	0.3757	M	0.89658	3.05	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.79460	-0.1794	10	0.59425	D	0.04	-12.5849	17.6186	0.88074	0.0:0.0:1.0:0.0	.	539	Q3LXA3	DHAK_HUMAN	T	539	ENSP00000378360:A539T	ENSP00000378360:A539T	A	+	1	0	DAK	60870438	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	8.861000	0.92277	2.606000	0.88127	0.561000	0.74099	GCT		0.647	DAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394425.4	NM_015533		38	152	0	0	0	1	0	38	152				
TRGV5	6978	broad.mit.edu	37	7	38388991	38388991	+	RNA	SNP	C	C	T			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr7:38388991C>T	ENST00000390344.2	-	0	516									T cell receptor gamma variable 5																		ACCCCAGAATCATTTTCAATT	0.458																																						ENST00000390344.2																			0																				58.0	52.0	54.0					7																	38388991		1788	3871	5659			6978							g.chr7:38388991C>T	M36286		7p14	2012-02-07				ENSG00000211697		"""T cell receptors / TRG locus"""	12290	other	T cell receptor gene	"""T-cell receptor, gamma, variable region V5"""			TCRGV5		2902186, 2969332	Standard	NG_001336		Approved	V1S5			OTTHUMG00000155101		7.37:g.38388991C>T														0	516	-									RNA	SNP	ENST00000390344.2	37																																																																																						0.458	TRGV5-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000338407.4	NG_001336		11	9	0	0	0	1	0	11	9				
EIF4A3	9775	broad.mit.edu	37	17	78111189	78111189	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr17:78111189C>T	ENST00000269349.3	-	9	1200	c.979G>A	c.(979-981)Gcc>Acc	p.A327T		NM_014740.3	NP_055555.1	P38919	IF4A3_HUMAN	eukaryotic translation initiation factor 4A3	327	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|cytokine-mediated signaling pathway (GO:0019221)|embryonic cranial skeleton morphogenesis (GO:0048701)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|mRNA binding (GO:0003729)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)			ACCCACCTGGCGCCCGACCGG	0.562																																						ENST00000269349.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10						c.(979-981)Gcc>Acc		eukaryotic translation initiation factor 4A3							96.0	81.0	86.0					17																	78111189		2203	4300	6503	SO:0001583	missense	9775				mRNA transport|negative regulation of translation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|rRNA processing	catalytic step 2 spliceosome|cytoplasm|exon-exon junction complex|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|poly(A) RNA binding|protein binding	g.chr17:78111189C>T	BC004386	CCDS11767.1	17q25.3	2010-02-10	2010-02-10	2006-11-27		ENSG00000141543		"""DEAD-boxes"""	18683	protein-coding gene	gene with protein product		608546	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 48"", ""eukaryotic translation initiation factor 4A, isoform 3"""	DDX48		10623621, 14730019	Standard	NM_014740		Approved	KIAA0111, EIF4AIII	uc002jxs.3	P38919		ENST00000269349.3:c.979G>A	17.37:g.78111189C>T	ENSP00000269349:p.Ala327Thr						p.A327T	NM_014740.3	NP_055555.1	P38919	IF4A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		9	1200	-	all_neural(118;0.117)		327			Helicase C-terminal.		Q15033|Q6IBQ2|Q96A18	Missense_Mutation	SNP	ENST00000269349.3	37	c.979G>A	CCDS11767.1	.	.	.	.	.	.	.	.	.	.	C	10.84	1.464726	0.26335	.	.	ENSG00000141543	ENST00000269349	T	0.04603	3.59	4.48	3.49	0.39957	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.02848	0.0085	N	0.04820	-0.15	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.50381	-0.8835	10	0.40728	T	0.16	.	11.388	0.49798	0.1826:0.8174:0.0:0.0	.	327	P38919	IF4A3_HUMAN	T	327	ENSP00000269349:A327T	ENSP00000269349:A327T	A	-	1	0	EIF4A3	75725784	1.000000	0.71417	0.826000	0.32828	0.307000	0.27823	5.521000	0.67086	1.074000	0.40909	0.650000	0.86243	GCC		0.562	EIF4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437446.1	NM_014740		15	54	0	0	0	1	0	15	54				
HERC3	8916	broad.mit.edu	37	4	89574019	89574019	+	Splice_Site	SNP	G	G	C			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr4:89574019G>C	ENST00000402738.1	+	6	702		c.e6-1		HERC3_ENST00000407637.1_Splice_Site|HERC3_ENST00000264345.3_Splice_Site	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3						protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		TGTTATTTCAGATGGCCAGTT	0.493																																						ENST00000402738.1																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45						c.e6-1		HECT and RLD domain containing E3 ubiquitin protein ligase 3							30.0	31.0	31.0					4																	89574019		2203	4300	6503	SO:0001630	splice_region_variant	8916				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity	g.chr4:89574019G>C	D25215	CCDS34028.1	4q21	2012-02-23	2012-02-23		ENSG00000138641	ENSG00000138641			4876	protein-coding gene	gene with protein product		605200	"""hect domain and RLD 3"""			10702688	Standard	NM_014606		Approved	KIAA0032	uc003hrw.2	Q15034	OTTHUMG00000150436	ENST00000402738.1:c.464-1G>C	4.37:g.89574019G>C						HERC3_ENST00000407637.1_Splice_Site|HERC3_ENST00000264345.3_Splice_Site		NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000319)	6	702	+								A8K1S5|Q8IXX3	Splice_Site	SNP	ENST00000402738.1	37		CCDS34028.1	.	.	.	.	.	.	.	.	.	.	g	22.0	4.233078	0.79688	.	.	ENSG00000138641	ENST00000402738;ENST00000407637;ENST00000452979;ENST00000264345	.	.	.	5.09	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.677	0.91532	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HERC3	89793042	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	9.218000	0.95166	2.639000	0.89480	0.586000	0.80456	.		0.493	HERC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318081.2	NM_014606	Intron	6	16	0	0	0	1	0	6	16				
PTPRG	5793	broad.mit.edu	37	3	62188867	62188867	+	Silent	SNP	T	T	C			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr3:62188867T>C	ENST00000474889.1	+	12	1775	c.1398T>C	c.(1396-1398)tcT>tcC	p.S466S	PTPRG_ENST00000295874.10_Silent_p.S466S	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	466					brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CTCCTGCCTCTTCAGCCGACA	0.552																																						ENST00000474889.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(1396-1398)tcT>tcC		protein tyrosine phosphatase, receptor type, G							78.0	86.0	83.0					3																	62188867		2202	4300	6502	SO:0001819	synonymous_variant	5793				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr3:62188867T>C	L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.1398T>C	3.37:g.62188867T>C						PTPRG_ENST00000295874.10_Silent_p.S466S	p.S466S	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)	12	1775	+			466					B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Silent	SNP	ENST00000474889.1	37	c.1398T>C	CCDS2895.1																																																																																				0.552	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1	NM_002841		25	100	0	0	0	1	0	25	100				
DNAH5	1767	broad.mit.edu	37	5	13700787	13700787	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr5:13700787T>C	ENST00000265104.4	-	78	13789	c.13685A>G	c.(13684-13686)gAg>gGg	p.E4562G		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4562					cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGGCATCAACTCAAAGAGCAC	0.418									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(13684-13686)gAg>gGg		dynein, axonemal, heavy chain 5							185.0	178.0	181.0					5																	13700787		2203	4300	6503	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13700787T>C	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.13685A>G	5.37:g.13700787T>C	ENSP00000265104:p.Glu4562Gly						p.E4562G	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			78	13789	-	Lung NSC(4;0.00476)		4562					Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.13685A>G	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	T	17.79	3.476708	0.63737	.	.	ENSG00000039139	ENST00000265104	T	0.08984	3.03	5.95	5.95	0.96441	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.20536	0.0494	M	0.84433	2.695	0.80722	D	1	B	0.26120	0.142	B	0.36030	0.216	T	0.02150	-1.1205	10	0.29301	T	0.29	.	16.4323	0.83853	0.0:0.0:0.0:1.0	.	4562	Q8TE73	DYH5_HUMAN	G	4562	ENSP00000265104:E4562G	ENSP00000265104:E4562G	E	-	2	0	DNAH5	13753787	1.000000	0.71417	0.881000	0.34555	0.698000	0.40448	4.045000	0.57368	2.281000	0.76405	0.528000	0.53228	GAG		0.418	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		38	215	0	0	0	1	0	38	215				
PTPRH	5794	broad.mit.edu	37	19	55707926	55707926	+	Missense_Mutation	SNP	C	C	T	rs147064563		TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr19:55707926C>T	ENST00000376350.3	-	10	2243	c.2221G>A	c.(2221-2223)Gtg>Atg	p.V741M	PTPRH_ENST00000263434.5_Missense_Mutation_p.V563M|PTPRH_ENST00000588559.1_5'UTR	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	741	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		GAGTGAGACACGACCTTCATT	0.617																																						ENST00000376350.3																			0				breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67						c.(2221-2223)Gtg>Atg		protein tyrosine phosphatase, receptor type, H							69.0	61.0	63.0					19																	55707926		2203	4300	6503	SO:0001583	missense	5794				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:55707926C>T		CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.2221G>A	19.37:g.55707926C>T	ENSP00000365528:p.Val741Met					PTPRH_ENST00000263434.5_Missense_Mutation_p.V563M|PTPRH_ENST00000588559.1_5'UTR	p.V741M	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)	10	2243	-		Renal(1328;0.245)	741			Fibronectin type-III 8.		C9JCH2|Q15426|Q2NKN9|Q2NKP0	Missense_Mutation	SNP	ENST00000376350.3	37	c.2221G>A	CCDS33110.1	.	.	.	.	.	.	.	.	.	.	C	11.56	1.675381	0.29783	.	.	ENSG00000080031	ENST00000376350;ENST00000263434	T;T	0.06449	3.3;4.3	5.16	-4.11	0.03928	Fibronectin, type III (1);	1.638890	0.03944	N	0.287315	T	0.02193	0.0068	N	0.08118	0	0.09310	N	1	P;P;D	0.55605	0.561;0.688;0.972	B;B;B	0.35240	0.073;0.153;0.198	T	0.35101	-0.9802	10	0.44086	T	0.13	.	0.2632	0.00221	0.2464:0.2614:0.2335:0.2586	.	563;563;741	C9JCH2;Q9HD43-2;Q9HD43	.;.;PTPRH_HUMAN	M	741;563	ENSP00000365528:V741M;ENSP00000263434:V563M	ENSP00000263434:V563M	V	-	1	0	PTPRH	60399738	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.516000	0.02250	-0.197000	0.10350	-0.839000	0.03059	GTG		0.617	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1			21	80	0	0	0	1	0	21	80				
SSSCA1	10534	broad.mit.edu	37	11	65339025	65339025	+	Silent	SNP	T	T	G			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr11:65339025T>G	ENST00000309328.3	+	4	482	c.420T>G	c.(418-420)gcT>gcG	p.A140A	SSSCA1-AS1_ENST00000567594.1_RNA|SSSCA1_ENST00000527920.1_Intron|FAM89B_ENST00000530349.1_5'Flank|SSSCA1_ENST00000526877.1_3'UTR|FAM89B_ENST00000316409.2_5'Flank|SSSCA1_ENST00000531405.1_Silent_p.A103A|FAM89B_ENST00000449319.2_5'Flank	NM_006396.1	NP_006387.1	O60232	SSA27_HUMAN	Sjogren syndrome/scleroderma autoantigen 1	140	Pro-rich.				mitotic nuclear division (GO:0007067)					kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8						GGCCACCTGCTCCTGCTGTGC	0.647																																						ENST00000531405.1																			0				kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8						c.(307-309)gcT>gcG		Sjogren syndrome/scleroderma autoantigen 1							76.0	70.0	72.0					11																	65339025		2201	4297	6498	SO:0001819	synonymous_variant	10534				cell division|mitosis		protein binding	g.chr11:65339025T>G	AB001740	CCDS8104.1	11q13.1	2007-10-04	2007-10-04			ENSG00000173465			11328	protein-coding gene	gene with protein product		606044	"""Sjogren's syndrome/scleroderma autoantigen 1"""			9486406	Standard	NM_006396		Approved	p27	uc001oek.3	O60232		ENST00000309328.3:c.420T>G	11.37:g.65339025T>G						SSSCA1_ENST00000526877.1_3'UTR|SSSCA1_ENST00000527920.1_Intron|SSSCA1_ENST00000309328.3_Silent_p.A140A	p.A103A			O60232	SSA27_HUMAN			3	545	+			140						Silent	SNP	ENST00000309328.3	37	c.309T>G	CCDS8104.1																																																																																				0.647	SSSCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389511.1	NM_006396		31	109	0	0	0	1	0	31	109				
OR6B3	150681	broad.mit.edu	37	2	240984729	240984729	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr2:240984729G>A	ENST00000319423.4	-	1	760	c.761C>T	c.(760-762)gCc>gTc	p.A254V	PRR21_ENST00000408934.1_5'Flank	NM_173351.1	NP_775486.1	Q8NGW1	OR6B3_HUMAN	olfactory receptor, family 6, subfamily B, member 3	254						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1)	18		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		GAAAAGCAAGGCTGTATAGAA	0.572																																						ENST00000319423.4																			0				endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1)	18						c.(760-762)gCc>gTc		olfactory receptor, family 6, subfamily B, member 3							78.0	85.0	83.0					2																	240984729		2018	4173	6191	SO:0001583	missense	150681				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr2:240984729G>A		CCDS42837.1	2q37.3	2013-09-23	2002-11-13	2002-11-15	ENSG00000178586	ENSG00000178586		"""GPCR / Class A : Olfactory receptors"""	15042	protein-coding gene	gene with protein product			"""olfactory receptor, family 6, subfamily B, member 3 pseudogene"""	OR6B3P			Standard	NM_173351		Approved	OR6B3Q	uc010zoe.2	Q8NGW1	OTTHUMG00000152399	ENST00000319423.4:c.761C>T	2.37:g.240984729G>A	ENSP00000322435:p.Ala254Val						p.A254V	NM_173351.1	NP_775486.1	Q8NGW1	OR6B3_HUMAN		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)	1	760	-		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)	254					Q6IFH3	Missense_Mutation	SNP	ENST00000319423.4	37	c.761C>T	CCDS42837.1	.	.	.	.	.	.	.	.	.	.	g	12.29	1.892683	0.33442	.	.	ENSG00000178586	ENST00000319423	T	0.00179	8.61	4.09	4.09	0.47781	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46442	D	0.000298	T	0.00468	0.0015	M	0.64170	1.965	0.34197	D	0.672692	D	0.89917	1.0	D	0.97110	1.0	T	0.74244	-0.3728	10	0.87932	D	0	.	14.6272	0.68629	0.0:0.0:1.0:0.0	.	254	Q8NGW1	OR6B3_HUMAN	V	254	ENSP00000322435:A254V	ENSP00000322435:A254V	A	-	2	0	OR6B3	240633402	0.879000	0.30193	0.099000	0.21106	0.060000	0.15804	4.302000	0.59092	2.540000	0.85666	0.603000	0.83216	GCC		0.572	OR6B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326078.1			18	47	0	0	0	1	0	18	47				
PCDH11X	27328	broad.mit.edu	37	X	91132925	91132925	+	Missense_Mutation	SNP	T	T	G			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chrX:91132925T>G	ENST00000373094.1	+	2	2531	c.1686T>G	c.(1684-1686)gaT>gaG	p.D562E	PCDH11X_ENST00000361655.2_Missense_Mutation_p.D562E|PCDH11X_ENST00000298274.8_Missense_Mutation_p.D562E|PCDH11X_ENST00000361724.1_Missense_Mutation_p.D562E|PCDH11X_ENST00000406881.1_Missense_Mutation_p.D562E|PCDH11X_ENST00000373097.1_Missense_Mutation_p.D562E|PCDH11X_ENST00000395337.2_Missense_Mutation_p.D562E|PCDH11X_ENST00000504220.2_Missense_Mutation_p.D562E|PCDH11X_ENST00000373088.1_Missense_Mutation_p.D562E	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	562	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GCATTATTGATCAGAATGACA	0.378																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000373094.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(1684-1686)gaT>gaG		protocadherin 11 X-linked							77.0	74.0	75.0					X																	91132925		2203	4296	6499	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91132925T>G	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.1686T>G	X.37:g.91132925T>G	ENSP00000362186:p.Asp562Glu					PCDH11X_ENST00000298274.8_Missense_Mutation_p.D562E|PCDH11X_ENST00000406881.1_Missense_Mutation_p.D562E|PCDH11X_ENST00000361724.1_Missense_Mutation_p.D562E|PCDH11X_ENST00000373088.1_Missense_Mutation_p.D562E|PCDH11X_ENST00000395337.2_Missense_Mutation_p.D562E|PCDH11X_ENST00000373097.1_Missense_Mutation_p.D562E|PCDH11X_ENST00000504220.1_Missense_Mutation_p.D562E|PCDH11X_ENST00000361655.2_Missense_Mutation_p.D562E	p.D562E	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN			2	2531	+			562			Cadherin 5.		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.1686T>G	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	T	12.12	1.841149	0.32513	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	D;T;T;D;T;D;T;T;T	0.85088	-1.94;-0.91;-0.91;-1.94;-0.91;-1.94;-0.91;-0.91;-0.91	5.22	2.86	0.33363	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.92984	0.7767	H	0.95365	3.66	0.49389	D	0.999785	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.999;1.0;0.999;0.999;0.999;0.997;0.999;0.999	D	0.90879	0.4752	10	0.87932	D	0	.	5.4382	0.16494	0.0:0.4363:0.0:0.5637	.	562;562;562;562;562;562;562;562	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	E	562	ENSP00000378746:D562E;ENSP00000362186:D562E;ENSP00000362189:D562E;ENSP00000355040:D562E;ENSP00000362180:D562E;ENSP00000423762:D562E;ENSP00000355105:D562E;ENSP00000384758:D562E;ENSP00000298274:D562E	ENSP00000298274:D562E	D	+	3	2	PCDH11X	91019581	1.000000	0.71417	1.000000	0.80357	0.136000	0.21042	2.400000	0.44504	0.646000	0.30693	0.345000	0.21793	GAT		0.378	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		19	28	0	0	0	1	0	19	28				
BMS1P20	96610	broad.mit.edu	37	22	22663087	22663087	+	RNA	SNP	A	A	G	rs1054158|rs71318762	byFrequency	TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr22:22663087A>G	ENST00000426066.1	+	0	526					NR_027293.1				BMS1 pseudogene 20																		GCTGCCACATAAGTTGTCCTT	0.303													.|||	3161	0.63119	0.9652	0.4726	5008	,	,		8984	0.4077		0.5219	False		,,,				2504	0.635					ENST00000426066.1																			0																																																			96610							g.chr22:22663087A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22663087A>G								NR_027293.1						0	526	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.303	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			7	15	0	0	0	1	0	7	15				
FARP1	10160	broad.mit.edu	37	13	99017671	99017671	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr13:99017671C>T	ENST00000319562.6	+	4	564	c.299C>T	c.(298-300)cCc>cTc	p.P100L	FARP1_ENST00000595437.1_Missense_Mutation_p.P100L|FARP1_ENST00000376586.2_Missense_Mutation_p.P100L	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	100	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			CTCCTAAAACCCATTGTGAAA	0.368																																						ENST00000376586.2																			0				breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49						c.(298-300)cCc>cTc		FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)							156.0	151.0	152.0					13																	99017671		2203	4300	6503	SO:0001583	missense	10160				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr13:99017671C>T	AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"""Rho guanine nucleotide exchange factors"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Pleckstrin homology (PH) domain containing"""	3591	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 75"""	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.299C>T	13.37:g.99017671C>T	ENSP00000322926:p.Pro100Leu					FARP1_ENST00000595437.1_Missense_Mutation_p.P100L|FARP1_ENST00000319562.6_Missense_Mutation_p.P100L	p.P100L			Q9Y4F1	FARP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.233)		4	635	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		100			FERM.		Q5JVI9|Q6IQ29	Missense_Mutation	SNP	ENST00000319562.6	37	c.299C>T	CCDS9487.1	.	.	.	.	.	.	.	.	.	.	C	19.44	3.828686	0.71258	.	.	ENSG00000152767	ENST00000376586;ENST00000319562	T;T	0.76578	-1.03;-1.03	5.21	5.21	0.72293	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);FERM conserved site (1);	0.000000	0.85682	D	0.000000	D	0.89336	0.6686	M	0.86502	2.82	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.99;1.0	D	0.90607	0.4549	10	0.62326	D	0.03	.	16.0273	0.80551	0.0:1.0:0.0:0.0	.	100;100	Q9Y4F1;C9JME2	FARP1_HUMAN;.	L	100	ENSP00000365771:P100L;ENSP00000322926:P100L	ENSP00000322926:P100L	P	+	2	0	FARP1	97815672	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	5.559000	0.67326	2.605000	0.88082	0.655000	0.94253	CCC		0.368	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3	NM_005766		29	58	0	0	0	1	0	29	58				
CNOT1	23019	broad.mit.edu	37	16	58610459	58610459	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr16:58610459T>C	ENST00000317147.5	-	14	1944	c.1612A>G	c.(1612-1614)Atc>Gtc	p.I538V	CNOT1_ENST00000569240.1_Missense_Mutation_p.I538V|CNOT1_ENST00000441024.2_Missense_Mutation_p.I538V	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	538					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GCATGCATGATAAGTTGGCGA	0.423																																						ENST00000317147.5																			0				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87						c.(1612-1614)Atc>Gtc		CCR4-NOT transcription complex, subunit 1							162.0	125.0	137.0					16																	58610459		2198	4300	6498	SO:0001583	missense	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58610459T>C	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.1612A>G	16.37:g.58610459T>C	ENSP00000320949:p.Ile538Val					CNOT1_ENST00000569240.1_Missense_Mutation_p.I538V|CNOT1_ENST00000441024.2_Missense_Mutation_p.I538V	p.I538V	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	14	1944	-			538					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	c.1612A>G	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	T	17.78	3.472561	0.63737	.	.	ENSG00000125107	ENST00000317147;ENST00000394200;ENST00000441024	T;T	0.17213	2.29;2.29	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.22399	0.0540	N	0.16743	0.435	0.80722	D	1	P;B;B	0.38863	0.65;0.022;0.037	P;B;B	0.54140	0.743;0.01;0.022	T	0.12502	-1.0545	9	.	.	.	0.4867	15.7131	0.77646	0.0:0.0:0.0:1.0	.	538;538;538	A5YKK6-4;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	V	538	ENSP00000320949:I538V;ENSP00000413113:I538V	.	I	-	1	0	CNOT1	57167960	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.040000	0.89188	2.114000	0.64651	0.533000	0.62120	ATC		0.423	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		10	61	0	0	0	1	0	10	61				
CCDC13	152206	broad.mit.edu	37	3	42788812	42788812	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr3:42788812C>G	ENST00000310232.6	-	6	740	c.657G>C	c.(655-657)ttG>ttC	p.L219F	CCDC13-AS1_ENST00000446950.1_RNA|CCDC13_ENST00000435327.2_5'Flank|CCDC13-AS1_ENST00000418161.1_RNA	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	219										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						CACTCATCTTCAAGTTGGTGG	0.557																																						ENST00000310232.6																			0				endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						c.(655-657)ttG>ttC		coiled-coil domain containing 13							75.0	67.0	69.0					3																	42788812		2203	4300	6503	SO:0001583	missense	152206							g.chr3:42788812C>G	AK058196	CCDS2705.1	3p22.1	2005-01-25			ENSG00000244607	ENSG00000244607			26358	protein-coding gene	gene with protein product						12477932	Standard	NM_144719		Approved	FLJ25467	uc003cly.4	Q8IYE1	OTTHUMG00000133046	ENST00000310232.6:c.657G>C	3.37:g.42788812C>G	ENSP00000309836:p.Leu219Phe						p.L219F	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN			6	740	-			219						Missense_Mutation	SNP	ENST00000310232.6	37	c.657G>C	CCDS2705.1	.	.	.	.	.	.	.	.	.	.	C	14.51	2.557008	0.45590	.	.	ENSG00000244607	ENST00000310232	T	0.25250	1.81	5.1	2.16	0.27623	.	0.143126	0.46442	D	0.000286	T	0.34366	0.0895	L	0.50333	1.59	0.37634	D	0.921793	P;D	0.89917	0.933;1.0	P;D	0.91635	0.557;0.999	T	0.36040	-0.9764	10	0.38643	T	0.18	.	1.7904	0.03050	0.1474:0.4637:0.1438:0.2451	.	219;219	Q96LI1;Q8IYE1	.;CCD13_HUMAN	F	219	ENSP00000309836:L219F	ENSP00000309836:L219F	L	-	3	2	CCDC13	42763816	0.988000	0.35896	1.000000	0.80357	0.972000	0.66771	0.047000	0.14056	1.135000	0.42183	0.655000	0.94253	TTG		0.557	CCDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256652.1	NM_144719		11	45	0	0	0	1	0	11	45				
WWP2	11060	broad.mit.edu	37	16	69971036	69971036	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr16:69971036G>A	ENST00000359154.2	+	20	2234	c.2133G>A	c.(2131-2133)tgG>tgA	p.W711*	WWP2_ENST00000448661.1_Nonsense_Mutation_p.W711*|WWP2_ENST00000356003.2_Nonsense_Mutation_p.W711*|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000542271.1_Nonsense_Mutation_p.W595*|WWP2_ENST00000568684.1_Nonsense_Mutation_p.W272*	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	711	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cellular protein modification process (GO:0006464)|negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transporter activity (GO:0032410)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TGACTGACTGGCGTTTCACCC	0.637																																						ENST00000359154.2																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(2131-2133)tgG>tgA		WW domain containing E3 ubiquitin protein ligase 2							60.0	53.0	56.0					16																	69971036		2198	4300	6498	SO:0001587	stop_gained	11060				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity	g.chr16:69971036G>A	BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373			16804	protein-coding gene	gene with protein product		602308				9169421, 12167593	Standard	NM_007014		Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.2133G>A	16.37:g.69971036G>A	ENSP00000352069:p.Trp711*					WWP2_ENST00000542271.1_Nonsense_Mutation_p.W595*|WWP2_ENST00000356003.2_Nonsense_Mutation_p.W711*|WWP2_ENST00000568684.1_Nonsense_Mutation_p.W272*|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000448661.1_Nonsense_Mutation_p.W711*	p.W711*	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN			20	2234	+			711			HECT.		A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	Nonsense_Mutation	SNP	ENST00000359154.2	37	c.2133G>A	CCDS10885.1	.	.	.	.	.	.	.	.	.	.	G	39	7.716579	0.98450	.	.	ENSG00000198373	ENST00000359154;ENST00000545099;ENST00000448661;ENST00000356003;ENST00000544162;ENST00000542271	.	.	.	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.131	0.93406	0.0:0.0:1.0:0.0	.	.	.	.	X	711;272;711;711;598;595	.	.	W	+	3	0	WWP2	68528537	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.813000	0.99286	2.568000	0.86640	0.655000	0.94253	TGG		0.637	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268954.1	NM_007014		13	34	0	0	0	1	0	13	34				
BRS3	680	broad.mit.edu	37	X	135570640	135570640	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chrX:135570640C>T	ENST00000370648.3	+	1	595	c.367C>T	c.(367-369)Ctc>Ttc	p.L123F	Z97632.1_ENST00000580943.1_RNA	NM_001727.1	NP_001718.1	P32247	BRS3_HUMAN	bombesin-like receptor 3	123					adult feeding behavior (GO:0008343)|glucose metabolic process (GO:0006006)|regulation of blood pressure (GO:0008217)	integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)			endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23	Acute lymphoblastic leukemia(192;0.000127)					TTGTAAGGTGCTCTCTTTCAT	0.448																																						ENST00000370648.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23						c.(367-369)Ctc>Ttc		bombesin-like receptor 3							150.0	138.0	142.0					X																	135570640		2203	4300	6503	SO:0001583	missense	680				adult feeding behavior|glucose metabolic process|regulation of blood pressure	integral to membrane|plasma membrane	bombesin receptor activity	g.chrX:135570640C>T		CCDS14656.1	Xq26.3	2014-02-21			ENSG00000102239	ENSG00000102239		"""GPCR / Class A : Bombesin receptors"""	1113	protein-coding gene	gene with protein product		300107				8383682	Standard	NM_001727		Approved	BB3	uc004ezv.1	P32247	OTTHUMG00000022726	ENST00000370648.3:c.367C>T	X.37:g.135570640C>T	ENSP00000359682:p.Leu123Phe						p.L123F	NM_001727.1	NP_001718.1	P32247	BRS3_HUMAN			1	595	+	Acute lymphoblastic leukemia(192;0.000127)		123						Missense_Mutation	SNP	ENST00000370648.3	37	c.367C>T	CCDS14656.1	.	.	.	.	.	.	.	.	.	.	C	16.65	3.182400	0.57800	.	.	ENSG00000102239	ENST00000370648	T	0.20069	2.1	5.92	5.92	0.95590	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000006	T	0.29190	0.0726	L	0.28740	0.885	0.46701	D	0.999161	D	0.63880	0.993	D	0.66497	0.944	T	0.03335	-1.1047	10	0.14252	T	0.57	-13.1808	12.6036	0.56511	0.0:0.9228:0.0:0.0772	.	123	P32247	BRS3_HUMAN	F	123	ENSP00000359682:L123F	ENSP00000359682:L123F	L	+	1	0	BRS3	135398306	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.238000	0.43070	2.496000	0.84212	0.594000	0.82650	CTC		0.448	BRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059005.1	NM_001727		26	36	0	0	0	1	0	26	36				
WASH3P	374666	broad.mit.edu	37	15	102516424	102516424	+	RNA	SNP	G	G	T	rs201105823		TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr15:102516424G>T	ENST00000557932.1	+	0	1372				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)	p.P449P(4)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGCCGCCACCGCAGCAGCCAC	0.647																																						ENST00000557932.1																			4	Substitution - coding silent(4)	p.P449P(4)	endometrium(3)|kidney(1)	central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25																																														374666							g.chr15:102516424G>T			15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102516424G>T														0	1372	+									RNA	SNP	ENST00000557932.1	37																																																																																						0.647	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1	NM_199163		6	74	1	0	0.000157383	1	0.000164537	6	74				
AKAP5	9495	broad.mit.edu	37	14	64935239	64935239	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr14:64935239G>A	ENST00000394718.4	+	2	505	c.127G>A	c.(127-129)Gca>Aca	p.A43T	AKAP5_ENST00000320636.5_Missense_Mutation_p.A43T|ZBTB25_ENST00000555424.1_Intron|ZBTB25_ENST00000555220.1_Intron	NM_004857.3	NP_004848.3	P24588	AKAP5_HUMAN	A kinase (PRKA) anchor protein 5	43	Essential to the intracellular anchoring function. {ECO:0000250}.				energy reserve metabolic process (GO:0006112)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|stomach(1)	13				all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449)		AAGAAAGAAAGCAGCCAAAGC	0.502																																						ENST00000320636.5																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|stomach(1)	13						c.(127-129)Gca>Aca		A kinase (PRKA) anchor protein 5							51.0	54.0	53.0					14																	64935239		2203	4300	6503	SO:0001583	missense	9495				energy reserve metabolic process|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting|regulation of insulin secretion|signal transduction|synaptic transmission	cytosol	adenylate cyclase binding|calmodulin binding	g.chr14:64935239G>A	M90359	CCDS9764.1	14q23.3	2012-05-16			ENSG00000179841	ENSG00000179841		"""A-kinase anchor proteins"""	375	protein-coding gene	gene with protein product		604688				1512224, 1618839	Standard	NM_004857		Approved	AKAP75, AKAP79	uc001xhd.4	P24588	OTTHUMG00000029634	ENST00000394718.4:c.127G>A	14.37:g.64935239G>A	ENSP00000378207:p.Ala43Thr					ZBTB25_ENST00000555220.1_Intron|ZBTB25_ENST00000555424.1_Intron|AKAP5_ENST00000394718.3_Missense_Mutation_p.A43T	p.A43T			P24588	AKAP5_HUMAN		all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449)	1	1415	+			43			Essential to the intracellular anchoring function (By similarity).		A2RRB8	Missense_Mutation	SNP	ENST00000394718.4	37	c.127G>A	CCDS9764.1	.	.	.	.	.	.	.	.	.	.	G	8.067	0.769402	0.15983	.	.	ENSG00000179841	ENST00000394718;ENST00000320636	T;T	0.24723	1.84;1.84	5.58	-3.51	0.04696	.	1.048650	0.07480	N	0.903731	T	0.12433	0.0302	L	0.27053	0.805	0.09310	N	0.999999	B	0.10296	0.003	B	0.08055	0.003	T	0.32903	-0.9889	10	0.23891	T	0.37	-16.6887	0.5888	0.00724	0.2273:0.1933:0.3147:0.2648	.	43	P24588	AKAP5_HUMAN	T	43	ENSP00000378207:A43T;ENSP00000315615:A43T	ENSP00000315615:A43T	A	+	1	0	AKAP5	64004992	0.069000	0.21087	0.003000	0.11579	0.157000	0.22087	-0.088000	0.11198	-0.461000	0.06993	0.655000	0.94253	GCA		0.502	AKAP5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268070.3			21	47	0	0	0	1	0	21	47				
PIK3CA	5290	broad.mit.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		1582	Substitution - Missense(1582)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(3139-3141)cAt>cGt		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							99.0	89.0	92.0					3																	178952085		1912	4130	6042	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178952085A>G		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.H1047R	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		21	3297	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		1047		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).	PI3K/PI4K.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.3140A>G	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			9	32	0	0	0	1	0	9	32				
EXOC5	10640	broad.mit.edu	37	14	57689026	57689026	+	Splice_Site	SNP	C	C	A			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr14:57689026C>A	ENST00000413566.2	-	13	1764	c.1405G>T	c.(1405-1407)Gga>Tga	p.G469*	EXOC5_ENST00000340918.7_Splice_Site_p.G404*	NM_006544.3	NP_006535.1	O00471	EXOC5_HUMAN	exocyst complex component 5	469					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|vesicle docking (GO:0048278)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	22						ATATACTTACCAGCAAGTCCT	0.323																																						ENST00000413566.2																			0				breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	22						c.e13+1		exocyst complex component 5							87.0	74.0	78.0					14																	57689026		1836	4087	5923	SO:0001630	splice_region_variant	10640				exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking	cytoplasm		g.chr14:57689026C>A	U85946	CCDS45111.1	14q22.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000070367	ENSG00000070367			10696	protein-coding gene	gene with protein product		604469	"""SEC10 (S. cerevisiae)-like 1"", ""SEC10-like 1 (S. cerevisiae)"""	SEC10L1		9119050	Standard	XM_005267272		Approved	SEC10, SEC10P	uc001xct.3	O00471	OTTHUMG00000171309	ENST00000413566.2:c.1405+1G>T	14.37:g.57689026C>A						EXOC5_ENST00000340918.7_Splice_Site_p.G404_splice	p.G469_splice	NM_006544.3	NP_006535.1	O00471	EXOC5_HUMAN			13	1764	-			469					B2R6C5	Splice_Site	SNP	ENST00000413566.2	37	c.1405_splice	CCDS45111.1	.	.	.	.	.	.	.	.	.	.	C	41	9.152079	0.99082	.	.	ENSG00000070367	ENST00000413566;ENST00000340918	.	.	.	5.08	5.08	0.68730	.	0.052587	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-12.0687	18.8299	0.92133	0.0:1.0:0.0:0.0	.	.	.	.	X	469;404	.	.	G	-	1	0	EXOC5	56758779	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	6.739000	0.74827	2.528000	0.85240	0.585000	0.79938	GGA		0.323	EXOC5-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412905.1	NM_006544	Nonsense_Mutation	14	28	1	0	0.00244969	1	0.00246758	14	28				
AKAP9	10142	broad.mit.edu	37	7	91714839	91714839	+	Missense_Mutation	SNP	A	A	T			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr7:91714839A>T	ENST00000359028.2	+	36	9100	c.8875A>T	c.(8875-8877)Atg>Ttg	p.M2959L	AKAP9_ENST00000356239.3_Missense_Mutation_p.M2955L|AKAP9_ENST00000358100.2_Missense_Mutation_p.M2905L			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2959					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TAATGAAGGCATGCAGGTGCT	0.423			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(8875-8877)Atg>Ttg		A kinase (PRKA) anchor protein 9							109.0	106.0	107.0					7																	91714839		2203	4300	6503	SO:0001583	missense	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91714839A>T	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.8875A>T	7.37:g.91714839A>T	ENSP00000351922:p.Met2959Leu					AKAP9_ENST00000356239.3_Missense_Mutation_p.M2955L|AKAP9_ENST00000358100.2_Missense_Mutation_p.M2905L	p.M2959L			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		36	9100	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		2959					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.8875A>T		.	.	.	.	.	.	.	.	.	.	A	12.78	2.039601	0.35989	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394534	T;T;T;T	0.03413	4.03;4.02;4.07;3.94	4.9	4.9	0.64082	.	0.000000	0.47455	D	0.000231	T	0.04907	0.0132	M	0.69823	2.125	0.18873	N	0.999981	P;B;B;B;B	0.34462	0.454;0.023;0.008;0.013;0.013	B;B;B;B;B	0.30572	0.117;0.022;0.01;0.022;0.022	T	0.33471	-0.9867	10	0.12430	T	0.62	.	9.3691	0.38244	0.8736:0.0:0.1264:0.0	.	2959;2959;2959;2955;2947	F5H3X5;Q99996-6;Q99996;Q99996-2;Q99996-3	.;.;AKAP9_HUMAN;.;.	L	2955;2959;2905;2959;801	ENSP00000348573:M2955L;ENSP00000351922:M2959L;ENSP00000350813:M2905L;ENSP00000378042:M801L	ENSP00000348573:M2955L	M	+	1	0	AKAP9	91552775	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	4.940000	0.63533	2.171000	0.68590	0.533000	0.62120	ATG		0.423	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		16	58	0	0	0	1	0	16	58				
KCNF1	3754	broad.mit.edu	37	2	11053622	11053622	+	Missense_Mutation	SNP	T	T	A			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr2:11053622T>A	ENST00000295082.1	+	1	1560	c.1070T>A	c.(1069-1071)aTc>aAc	p.I357N		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	357					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		TTTAAGAGCATCCCCCAGTCC	0.602																																						ENST00000295082.1																			0				NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19						c.(1069-1071)aTc>aAc		potassium voltage-gated channel, subfamily F, member 1							113.0	93.0	99.0					2																	11053622		2203	4300	6503	SO:0001583	missense	3754					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr2:11053622T>A	AF033382	CCDS1676.1	2p25	2011-07-05			ENSG00000162975	ENSG00000162975		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6246	protein-coding gene	gene with protein product		603787		KCNF		9434767, 16382104	Standard	NM_002236		Approved	Kv5.1, kH1, IK8	uc002rax.3	Q9H3M0	OTTHUMG00000119054	ENST00000295082.1:c.1070T>A	2.37:g.11053622T>A	ENSP00000295082:p.Ile357Asn						p.I357N	NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)	1	1560	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		357					O43527|Q585L3	Missense_Mutation	SNP	ENST00000295082.1	37	c.1070T>A	CCDS1676.1	.	.	.	.	.	.	.	.	.	.	t	20.4	3.978475	0.74360	.	.	ENSG00000162975	ENST00000295082	D	0.98732	-5.1	5.32	5.32	0.75619	Ion transport (1);	0.049163	0.85682	D	0.000000	D	0.99447	0.9804	H	0.96805	3.885	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.98278	1.0507	10	0.87932	D	0	.	15.5838	0.76465	0.0:0.0:0.0:1.0	.	357	Q9H3M0	KCNF1_HUMAN	N	357	ENSP00000295082:I357N	ENSP00000295082:I357N	I	+	2	0	KCNF1	10971073	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.997000	0.88414	2.134000	0.65973	0.529000	0.55759	ATC		0.602	KCNF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239265.1	NM_002236		13	42	0	0	0	1	0	13	42				
NSUN6	221078	broad.mit.edu	37	10	18931445	18931445	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr10:18931445C>G	ENST00000377304.4	-	3	689	c.271G>C	c.(271-273)Gac>Cac	p.D91H	RP11-139J15.7_ENST00000606425.1_Missense_Mutation_p.D79H	NM_182543.2	NP_872349.1	Q8TEA1	NSUN6_HUMAN	NOP2/Sun domain family, member 6	91							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						TCTTGAAGGTCTGGATGTTGA	0.313																																						ENST00000377304.4																			0				endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(271-273)Gac>Cac		NOP2/Sun domain family, member 6							141.0	147.0	145.0					10																	18931445		2203	4299	6502	SO:0001583	missense	221078						methyltransferase activity|RNA binding	g.chr10:18931445C>G	BC035778	CCDS7130.1	10p13	2014-06-23	2009-11-23	2004-08-26	ENSG00000241058	ENSG00000241058		"""NOP2/Sun domain containing"""	23529	protein-coding gene	gene with protein product			"""NOL1/NOP2/Sun domain family 6"", ""NOL1/NOP2/Sun domain family, member 6"", ""ARL5B antisense RNA 1"""	NOPD1, ARL5B-AS1			Standard	XM_005252394		Approved	FLJ23743	uc010qcp.1	Q8TEA1	OTTHUMG00000017767	ENST00000377304.4:c.271G>C	10.37:g.18931445C>G	ENSP00000366519:p.Asp91His					RP11-139J15.7_ENST00000606425.1_Missense_Mutation_p.D79H	p.D91H	NM_182543.2	NP_872349.1	Q8TEA1	NSUN6_HUMAN			3	689	-			91					B0YJ54	Missense_Mutation	SNP	ENST00000377304.4	37	c.271G>C	CCDS7130.1	.	.	.	.	.	.	.	.	.	.	C	11.89	1.772717	0.31411	.	.	ENSG00000241058	ENST00000377304	T	0.30448	1.53	5.58	3.61	0.41365	.	0.949454	0.08968	N	0.867613	T	0.26122	0.0637	L	0.40543	1.245	0.26704	N	0.971113	B	0.13145	0.007	B	0.12156	0.007	T	0.16394	-1.0404	10	0.42905	T	0.14	.	8.0616	0.30635	0.0:0.6206:0.2243:0.155	.	91	Q8TEA1	NSUN6_HUMAN	H	91	ENSP00000366519:D91H	ENSP00000366519:D91H	D	-	1	0	NSUN6	18971451	0.927000	0.31430	1.000000	0.80357	0.977000	0.68977	0.134000	0.15932	1.352000	0.45808	0.563000	0.77884	GAC		0.313	NSUN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047083.1	NM_182543		27	81	0	0	0	1	0	27	81				
TNXB	7148	broad.mit.edu	37	6	32064720	32064720	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr6:32064720C>T	ENST00000479795.1	-	3	1050	c.910G>A	c.(910-912)Gag>Aag	p.E304K	TNXB_ENST00000375244.3_Missense_Mutation_p.E304K|TNXB_ENST00000375247.2_Missense_Mutation_p.E304K			P22105	TENX_HUMAN	tenascin XB	304	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCACAGTCCTCGCCAGTGTAG	0.682																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(910-912)Gag>Aag		tenascin XB							28.0	34.0	32.0					6																	32064720		2173	4250	6423	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32064720C>T	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000479795.1:c.910G>A	6.37:g.32064720C>T	ENSP00000418248:p.Glu304Lys					TNXB_ENST00000375247.2_Missense_Mutation_p.E304K|TNXB_ENST00000479795.1_Missense_Mutation_p.E304K	p.E304K			P22105	TENX_HUMAN			3	1111	-			304			EGF-like 5.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000479795.1	37	c.910G>A		.	.	.	.	.	.	.	.	.	.	C	12.62	1.994025	0.35226	.	.	ENSG00000168477	ENST00000375244;ENST00000375247;ENST00000479795	T;T;T	0.03468	4.0;4.0;3.92	4.13	3.23	0.37069	.	0.467483	0.17964	N	0.156083	T	0.02304	0.0071	M	0.65498	2.005	0.22317	N	0.999206	D	0.59767	0.986	P	0.47705	0.555	T	0.43621	-0.9380	10	0.34782	T	0.22	.	5.0175	0.14345	0.2109:0.6783:0.0:0.1108	.	304	P22105-3	.	K	304	ENSP00000364393:E304K;ENSP00000364396:E304K;ENSP00000418248:E304K	ENSP00000364393:E304K	E	-	1	0	TNXB	32172698	0.000000	0.05858	0.383000	0.26132	0.334000	0.28698	0.340000	0.19892	0.693000	0.31634	-0.293000	0.09583	GAG		0.682	TNXB-007	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000357059.1	NM_019105		9	41	0	0	0	1	0	9	41				
ANO5	203859	broad.mit.edu	37	11	22242681	22242681	+	Silent	SNP	C	C	T			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr11:22242681C>T	ENST00000324559.8	+	5	536	c.219C>T	c.(217-219)ttC>ttT	p.F73F		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	73					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTATCTTCTTCCGAGATGGGA	0.358																																						ENST00000324559.8																			0				breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(217-219)ttC>ttT		anoctamin 5							94.0	92.0	93.0					11																	22242681		2203	4300	6503	SO:0001819	synonymous_variant	203859					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	g.chr11:22242681C>T	AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.219C>T	11.37:g.22242681C>T							p.F73F	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN			5	536	+			73						Silent	SNP	ENST00000324559.8	37	c.219C>T	CCDS31444.1																																																																																				0.358	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599		9	9	0	0	0	1	0	9	9				
ZNF737	100129842	broad.mit.edu	37	19	20728017	20728017	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr19:20728017T>C	ENST00000427401.4	-	4	1086	c.992A>G	c.(991-993)cAt>cGt	p.H331R		NM_001159293.1	NP_001152765.1	O75373	ZN737_HUMAN	zinc finger protein 737	331					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						AATTCTTTTATGTGTAGTAAG	0.393																																						ENST00000427401.4																			0				breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						c.(991-993)cAt>cGt		zinc finger protein 737							20.0	20.0	20.0					19																	20728017		692	1591	2283	SO:0001583	missense	100129842				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:20728017T>C	BC015765	CCDS54238.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	32468	protein-coding gene	gene with protein product		603984					Standard	NM_001159293		Approved	ZNF102	uc002npa.3	O75373		ENST00000427401.4:c.992A>G	19.37:g.20728017T>C	ENSP00000395733:p.His331Arg						p.H331R	NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN			4	1086	-			331					C9JHM3	Missense_Mutation	SNP	ENST00000427401.4	37	c.992A>G	CCDS54238.1	.	.	.	.	.	.	.	.	.	.	-	14.32	2.499848	0.44455	.	.	ENSG00000237440	ENST00000427401	D	0.86865	-2.18	0.801	-0.554	0.11811	.	.	.	.	.	D	0.92662	0.7668	H	0.96720	3.87	0.09310	N	0.999994	D	0.63880	0.993	P	0.56042	0.79	D	0.83597	0.0126	9	0.72032	D	0.01	.	3.7789	0.08673	0.0:0.3207:0.0:0.6793	.	331	C9JHM3	.	R	331	ENSP00000395733:H331R	ENSP00000395733:H331R	H	-	2	0	ZNF737	20519857	0.998000	0.40836	0.519000	0.27824	0.521000	0.34408	3.774000	0.55341	0.147000	0.19030	0.145000	0.16022	CAT		0.393	ZNF737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447844.2	NM_145289		20	27	0	0	0	1	0	20	27				
ASTN1	460	broad.mit.edu	37	1	176838147	176838147	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr1:176838147G>C	ENST00000367654.3	-	22	3715	c.3504C>G	c.(3502-3504)atC>atG	p.I1168M	ASTN1_ENST00000424564.2_Missense_Mutation_p.I1160M|ASTN1_ENST00000367657.3_Missense_Mutation_p.I1160M|ASTN1_ENST00000361833.2_Missense_Mutation_p.I1160M	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	1168					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						AGAGATTGTAGATCTTGTCTG	0.403																																						ENST00000367654.2																			0				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						c.(3502-3504)atC>atG		astrotactin 1							130.0	116.0	121.0					1																	176838147		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176838147G>C	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.3504C>G	1.37:g.176838147G>C	ENSP00000356626:p.Ile1168Met					ASTN1_ENST00000424564.2_Missense_Mutation_p.I1160M|ASTN1_ENST00000361833.2_Missense_Mutation_p.I1160M|ASTN1_ENST00000367657.3_Missense_Mutation_p.I1160M	p.I1168M			O14525	ASTN1_HUMAN			22	3517	-			1168					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.3504C>G		.	.	.	.	.	.	.	.	.	.	G	16.84	3.234962	0.58886	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.19806	2.12;2.54;2.54;2.13	5.7	3.81	0.43845	.	0.000000	0.85682	D	0.000000	T	0.37433	0.1003	L	0.53249	1.67	0.58432	D	0.999993	D;D	0.71674	0.998;0.994	D;D	0.68039	0.955;0.935	T	0.08932	-1.0698	10	0.87932	D	0	-31.331	10.5553	0.45114	0.0698:0.0:0.7965:0.1336	.	1160;1160	O14525-2;B1AJS1	.;.	M	1160;1160;1168;1160;1160	ENSP00000356629:I1160M;ENSP00000354536:I1160M;ENSP00000356626:I1168M;ENSP00000395041:I1160M	ENSP00000354536:I1160M	I	-	3	3	ASTN1	175104770	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.614000	0.46359	0.742000	0.32697	0.655000	0.94253	ATC		0.403	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		7	67	0	0	0	1	0	7	67				
SLC22A18	5002	broad.mit.edu	37	11	2946328	2946328	+	Silent	SNP	C	C	T	rs200531595		TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr11:2946328C>T	ENST00000380574.1	+	11	1607	c.1176C>T	c.(1174-1176)ggC>ggT	p.G392G	SLC22A18_ENST00000441077.1_3'UTR|SLC22A18_ENST00000347936.2_Silent_p.G392G|SLC22A18_ENST00000312221.5_Silent_p.G392G|SLC22A18_ENST00000449793.2_Silent_p.G294G			Q96BI1	S22AI_HUMAN	solute carrier family 22, member 18	392					drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|excretion (GO:0007588)|organic cation transport (GO:0015695)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|symporter activity (GO:0015293)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)		BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.192)		GCAGCTTTGGCGTCCCCGTCT	0.627													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16643	0.0		0.0	False		,,,				2504	0.0					ENST00000380574.1																			0				central_nervous_system(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8						c.(1174-1176)ggC>ggT		solute carrier family 22, member 18		C	,	2,4402	4.2+/-10.8	0,2,2200	113.0	98.0	103.0		1176,1176	-9.3	0.0	11		103	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous	SLC22A18	NM_002555.5,NM_183233.2	,	0,2,6499	TT,TC,CC		0.0,0.0454,0.0154	,	392/425,392/425	2946328	2,13000	2202	4299	6501	SO:0001819	synonymous_variant	5002				excretion|organic cation transport	apical plasma membrane|cytoplasmic part|integral to membrane|nuclear envelope	drug:hydrogen antiporter activity|symporter activity|ubiquitin protein ligase binding	g.chr11:2946328C>T	AF028738	CCDS7740.1	11p15.5	2013-05-22	2008-01-11	2004-01-21	ENSG00000110628	ENSG00000110628		"""Solute carriers"""	10964	protein-coding gene	gene with protein product		602631	"""solute carrier family 22 (organic cation transporter), member 1-like"""	ORCTL2, BWSCR1A, IMPT1, SLC22A1L		9499412, 9520460	Standard	NM_183233		Approved	BWR1A, TSSC5, ITM	uc001lwx.3	Q96BI1	OTTHUMG00000010037	ENST00000380574.1:c.1176C>T	11.37:g.2946328C>T						SLC22A18_ENST00000312221.5_Silent_p.G392G|SLC22A18_ENST00000347936.2_Silent_p.G392G|SLC22A18_ENST00000449793.2_Silent_p.G294G|SLC22A18_ENST00000441077.1_3'UTR	p.G392G			Q96BI1	S22AI_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.192)	11	1607	+		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)	392					O14906|O43562|O60485|O60680|Q7LDS5|Q7LGF7	Silent	SNP	ENST00000380574.1	37	c.1176C>T	CCDS7740.1																																																																																				0.627	SLC22A18-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027770.1	NM_183233		14	114	0	0	0	1	0	14	114				
PCDHA13	56136	broad.mit.edu	37	5	140262811	140262811	+	Missense_Mutation	SNP	G	G	A	rs572696678	byFrequency	TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr5:140262811G>A	ENST00000289272.2	+	1	958	c.958G>A	c.(958-960)Gtg>Atg	p.V320M	PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.V320M|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	320	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAAATATCCGTGGAGGCAGT	0.398																																					Melanoma(147;1739 1852 5500 27947 37288)	ENST00000289272.2																			0				NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95						c.(958-960)Gtg>Atg									62.0	72.0	68.0					5																	140262811		2203	4300	6503	SO:0001583	missense	56136							g.chr5:140262811G>A	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.958G>A	5.37:g.140262811G>A	ENSP00000289272:p.Val320Met					PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.V320M|PCDHA5_ENST00000529619.1_Intron|PCDHA12_ENST00000398631.2_Intron	p.V320M	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	958	+								O75277	Missense_Mutation	SNP	ENST00000289272.2	37	c.958G>A	CCDS4240.1	.	.	.	.	.	.	.	.	.	.	G	13.66	2.303983	0.40795	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.71698	-0.59;-0.59	5.58	3.8	0.43715	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.87478	0.6187	H	0.96430	3.82	0.23459	N	0.997632	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74674	0.965;0.984;0.982	T	0.78437	-0.2204	9	0.87932	D	0	.	9.0149	0.36164	0.227:0.0:0.773:0.0	.	320;320;320	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	M	320	ENSP00000386821:V320M;ENSP00000289272:V320M	ENSP00000289272:V320M	V	+	1	0	PCDHA13	140242995	0.909000	0.30893	0.038000	0.18304	0.894000	0.52154	1.398000	0.34554	0.714000	0.32081	0.561000	0.74099	GTG		0.398	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		21	77	0	0	0	1	0	21	77				
TP53	7157	broad.mit.edu	37	17	7579358	7579358	+	Missense_Mutation	SNP	C	C	A	rs11540654|rs587780066	byFrequency	TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr17:7579358C>A	ENST00000269305.4	-	4	518	c.329G>T	c.(328-330)cGt>cTt	p.R110L	TP53_ENST00000455263.2_Missense_Mutation_p.R110L|TP53_ENST00000420246.2_Missense_Mutation_p.R110L|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.R110L|TP53_ENST00000359597.4_Missense_Mutation_p.R110L|TP53_ENST00000413465.2_Missense_Mutation_p.R110L	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	110	Interaction with HIPK1. {ECO:0000250}.|Interaction with WWOX.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in a sporadic cancer; somatic mutation).|R -> H (in sporadic cancers; somatic mutation).|R -> L (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation).|R -> P (in sporadic cancers; somatic mutation; dbSNP:rs11540654). {ECO:0000269|PubMed:17224074}.|R -> S (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R110L(36)|p.R110P(9)|p.0?(8)|p.G59fs*23(3)|p.R110fs*13(2)|p.F109_R110delFR(2)|p.R110H(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.R110fs*39(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y107fs*38(1)|p.Y103_L111>L(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GAAGCCCAGACGGAAACCGTA	0.612		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		71	Substitution - Missense(47)|Deletion - Frameshift(10)|Whole gene deletion(8)|Deletion - In frame(3)|Complex - deletion inframe(2)|Insertion - Frameshift(1)	p.R110L(36)|p.R110P(9)|p.0?(8)|p.G59fs*23(3)|p.R110fs*13(2)|p.F109_R110delFR(2)|p.R110H(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.R110fs*39(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y107fs*38(1)|p.Y103_L111>L(1)	upper_aerodigestive_tract(15)|lung(13)|breast(8)|large_intestine(5)|urinary_tract(5)|liver(4)|bone(4)|soft_tissue(3)|oesophagus(3)|ovary(3)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|stomach(1)|skin(1)|pancreas(1)|autonomic_ganglia(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM984590	TP53	M	rs11540654	c.(328-330)cGt>cTt	Other conserved DNA damage response genes	tumor protein p53							63.0	60.0	61.0					17																	7579358		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579358C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.329G>T	17.37:g.7579358C>A	ENSP00000269305:p.Arg110Leu	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000359597.4_Missense_Mutation_p.R110L|TP53_ENST00000269305.4_Missense_Mutation_p.R110L|TP53_ENST00000455263.2_Missense_Mutation_p.R110L|TP53_ENST00000413465.2_Missense_Mutation_p.R110L|TP53_ENST00000445888.2_Missense_Mutation_p.R110L	p.R110L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	461	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	110		R -> C (in sporadic cancers; somatic mutation).|R -> G (in a sporadic cancer; somatic mutation).|R -> H (in sporadic cancers; somatic mutation).|R -> L (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation; dbSNP:rs11540654).|R -> S (in a sporadic cancer; somatic mutation).	Interaction with HIPK1 (By similarity).|Interaction with WWOX.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.329G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.091694	0.55968	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	D;D;D;D;D;D;D;D	0.99766	-6.69;-6.69;-6.69;-6.69;-6.69;-6.69;-6.69;-6.69	4.75	-0.964	0.10326	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.808524	0.11806	N	0.527643	D	0.99242	0.9736	L	0.52759	1.655	0.09310	N	1	P;P;P;B;B;B;P	0.51537	0.946;0.941;0.459;0.347;0.373;0.362;0.782	P;P;B;B;B;P;B	0.57152	0.523;0.814;0.269;0.211;0.405;0.49;0.337	D	0.99938	1.1378	10	0.66056	D	0.02	-0.2466	4.9119	0.13825	0.0:0.3943:0.154:0.4517	rs11540654;rs11540654	71;110;110;110;110;110;110	B4E095;E7EMR6;P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	L	110	ENSP00000410739:R110L;ENSP00000352610:R110L;ENSP00000269305:R110L;ENSP00000398846:R110L;ENSP00000391127:R110L;ENSP00000391478:R110L;ENSP00000424104:R110L;ENSP00000426252:R110L	ENSP00000269305:R110L	R	-	2	0	TP53	7520083	0.012000	0.17670	0.014000	0.15608	0.952000	0.60782	0.563000	0.23547	-0.185000	0.10550	0.655000	0.94253	CGT		0.612	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		34	47	1	0	1.45844e-13	1	1.64971e-13	34	47				
ZRANB2	9406	broad.mit.edu	37	1	71536551	71536551	+	Silent	SNP	T	T	C			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr1:71536551T>C	ENST00000370920.3	-	7	943	c.642A>G	c.(640-642)tcA>tcG	p.S214S	ZRANB2_ENST00000254821.6_Silent_p.S214S	NM_203350.2	NP_976225.1	O95218	ZRAB2_HUMAN	zinc finger, RAN-binding domain containing 2	214	Arg/Ser-rich.|Required for nuclear targeting.				mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1)	15						ATGAGCGTGATGAAGATCGTG	0.393																																						ENST00000370920.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1)	15						c.(640-642)tcA>tcG		zinc finger, RAN-binding domain containing 2							283.0	263.0	270.0					1																	71536551		2203	4300	6503	SO:0001819	synonymous_variant	9406				mRNA processing|RNA splicing	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:71536551T>C	AF065391	CCDS659.1, CCDS660.1	1p31	2008-02-05	2006-06-28	2006-06-28	ENSG00000132485	ENSG00000132485		"""Zinc fingers, RAN-binding domain containing"""	13058	protein-coding gene	gene with protein product		604347	"""zinc finger protein 265"""	ZNF265		9931435	Standard	NM_005455		Approved	ZIS, ZIS1, ZIS2	uc001dft.3	O95218	OTTHUMG00000009660	ENST00000370920.3:c.642A>G	1.37:g.71536551T>C						ZRANB2_ENST00000254821.6_Silent_p.S214S	p.S214S	NM_203350.2	NP_976225.1	O95218	ZRAB2_HUMAN			7	943	-			214			Arg/Ser-rich.|Required for nuclear targeting.		D3DQ75|Q53GS3|Q59F92|Q5VV33|Q5VV34|Q8IXN6|Q9UP63	Silent	SNP	ENST00000370920.3	37	c.642A>G	CCDS659.1																																																																																				0.393	ZRANB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026636.1	NM_203350		30	84	0	0	0	1	0	30	84				
NUP133	55746	broad.mit.edu	37	1	229588313	229588313	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr1:229588313G>T	ENST00000261396.3	-	22	3149	c.3058C>A	c.(3058-3060)Ctc>Atc	p.L1020I	NUP133_ENST00000537506.1_Missense_Mutation_p.L1004I|NUP133_ENST00000485119.1_5'Flank	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	1020					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore organization (GO:0006999)|paraxial mesoderm development (GO:0048339)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				ATCGCACTGAGATTTAGCTGT	0.448																																						ENST00000261396.3																			0				NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56						c.(3058-3060)Ctc>Atc		nucleoporin 133kDa							108.0	95.0	99.0					1																	229588313		2203	4300	6503	SO:0001583	missense	55746				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr1:229588313G>T		CCDS1579.1	1q42.13	2008-02-05	2002-08-29		ENSG00000069248	ENSG00000069248			18016	protein-coding gene	gene with protein product		607613	"""nucleoporin 133kD"""			11684705	Standard	NM_018230		Approved	FLJ10814	uc001htn.3	Q8WUM0	OTTHUMG00000039462	ENST00000261396.3:c.3058C>A	1.37:g.229588313G>T	ENSP00000261396:p.Leu1020Ile					NUP133_ENST00000366679.1_Missense_Mutation_p.L949I|NUP133_ENST00000537506.1_Missense_Mutation_p.L1004I	p.L1020I	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN			22	3149	-	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)	1020					B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Missense_Mutation	SNP	ENST00000261396.3	37	c.3058C>A	CCDS1579.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.224553	0.58668	.	.	ENSG00000069248	ENST00000366681;ENST00000261396;ENST00000366679;ENST00000537506	T;T;T	0.22539	1.96;1.95;1.96	5.54	5.54	0.83059	Nucleoporin, Nup133/Nup155-like, C-terminal (1);	0.110120	0.64402	D	0.000008	T	0.21631	0.0521	N	0.25144	0.715	0.49389	D	0.999789	P	0.47191	0.891	P	0.51550	0.673	T	0.02053	-1.1222	10	0.20519	T	0.43	-14.4739	12.7851	0.57500	0.0748:0.0:0.9252:0.0	.	1020	Q8WUM0	NU133_HUMAN	I	949;1020;949;1004	ENSP00000261396:L1020I;ENSP00000355640:L949I;ENSP00000443496:L1004I	ENSP00000261396:L1020I	L	-	1	0	NUP133	227654936	1.000000	0.71417	0.459000	0.27081	0.869000	0.49853	7.192000	0.77771	2.589000	0.87451	0.655000	0.94253	CTC		0.448	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095224.1	NM_018230		17	58	1	0	3.32936e-07	1	3.61773e-07	17	58				
MUC4	4585	broad.mit.edu	37	3	195508187	195508187	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr3:195508187C>T	ENST00000463781.3	-	2	10723	c.10264G>A	c.(10264-10266)Gcc>Acc	p.A3422T	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.A3422T	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGAGGGGTGGCGTGACCTGTG	0.582																																						ENST00000463781.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(10264-10266)Gcc>Acc		mucin 4, cell surface associated							27.0	21.0	23.0					3																	195508187		688	1579	2267	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195508187C>T	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.10264G>A	3.37:g.195508187C>T	ENSP00000417498:p.Ala3422Thr					MUC4_ENST00000475231.1_Missense_Mutation_p.A3422T|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	p.A3422T	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	10723	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	190					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.10264G>A	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	N	0.361	-0.939430	0.02322	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.31769	1.49;1.48	0.312	-0.624	0.11552	.	.	.	.	.	T	0.08891	0.0220	N	0.02539	-0.55	0.09310	N	1	B	0.19583	0.037	B	0.08055	0.003	T	0.27434	-1.0074	8	.	.	.	.	1.4254	0.02322	0.3411:0.3312:0.0:0.3277	.	3294	E7ESK3	.	T	3422	ENSP00000417498:A3422T;ENSP00000420243:A3422T	.	A	-	1	0	MUC4	196992966	0.000000	0.05858	0.004000	0.12327	0.012000	0.07955	-2.425000	0.01028	-0.890000	0.03945	0.089000	0.15464	GCC		0.582	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		3	4	0	0	0	1	0	3	4				
AKAP5	9495	broad.mit.edu	37	14	64935240	64935240	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr14:64935240C>A	ENST00000394718.4	+	2	506	c.128C>A	c.(127-129)gCa>gAa	p.A43E	AKAP5_ENST00000320636.5_Missense_Mutation_p.A43E|ZBTB25_ENST00000555424.1_Intron|ZBTB25_ENST00000555220.1_Intron	NM_004857.3	NP_004848.3	P24588	AKAP5_HUMAN	A kinase (PRKA) anchor protein 5	43	Essential to the intracellular anchoring function. {ECO:0000250}.				energy reserve metabolic process (GO:0006112)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|stomach(1)	13				all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449)		AGAAAGAAAGCAGCCAAAGCA	0.507																																						ENST00000320636.5																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|stomach(1)	13						c.(127-129)gCa>gAa		A kinase (PRKA) anchor protein 5							51.0	54.0	53.0					14																	64935240		2203	4300	6503	SO:0001583	missense	9495				energy reserve metabolic process|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting|regulation of insulin secretion|signal transduction|synaptic transmission	cytosol	adenylate cyclase binding|calmodulin binding	g.chr14:64935240C>A	M90359	CCDS9764.1	14q23.3	2012-05-16			ENSG00000179841	ENSG00000179841		"""A-kinase anchor proteins"""	375	protein-coding gene	gene with protein product		604688				1512224, 1618839	Standard	NM_004857		Approved	AKAP75, AKAP79	uc001xhd.4	P24588	OTTHUMG00000029634	ENST00000394718.4:c.128C>A	14.37:g.64935240C>A	ENSP00000378207:p.Ala43Glu					ZBTB25_ENST00000555220.1_Intron|ZBTB25_ENST00000555424.1_Intron|AKAP5_ENST00000394718.3_Missense_Mutation_p.A43E	p.A43E			P24588	AKAP5_HUMAN		all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449)	1	1416	+			43			Essential to the intracellular anchoring function (By similarity).		A2RRB8	Missense_Mutation	SNP	ENST00000394718.4	37	c.128C>A	CCDS9764.1	.	.	.	.	.	.	.	.	.	.	C	5.630	0.300965	0.10678	.	.	ENSG00000179841	ENST00000394718;ENST00000320636	T;T	0.25414	1.8;1.8	5.58	2.76	0.32466	.	1.048650	0.07480	N	0.903731	T	0.14527	0.0351	L	0.27053	0.805	0.09310	N	1	P	0.35433	0.501	B	0.25140	0.058	T	0.12760	-1.0535	10	0.09843	T	0.71	-16.6887	9.0689	0.36480	0.0:0.768:0.0:0.232	.	43	P24588	AKAP5_HUMAN	E	43	ENSP00000378207:A43E;ENSP00000315615:A43E	ENSP00000315615:A43E	A	+	2	0	AKAP5	64004993	0.064000	0.20934	0.003000	0.11579	0.104000	0.19210	1.588000	0.36633	0.706000	0.31912	-0.136000	0.14681	GCA		0.507	AKAP5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268070.3			21	50	1	0	1.96292e-10	1	2.16707e-10	21	50				
PPHLN1	51535	broad.mit.edu	37	12	42745769	42745769	+	Missense_Mutation	SNP	A	A	T			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr12:42745769A>T	ENST00000395568.2	+	3	239	c.155A>T	c.(154-156)tAt>tTt	p.Y52F	PPHLN1_ENST00000550535.1_3'UTR|PPHLN1_ENST00000317560.9_Intron|PPHLN1_ENST00000256678.8_Intron|PPHLN1_ENST00000549190.1_Missense_Mutation_p.Y70F|PPHLN1_ENST00000358314.7_Missense_Mutation_p.Y52F|PPHLN1_ENST00000337898.6_Intron|PPHLN1_ENST00000395580.3_Missense_Mutation_p.Y59F|PPHLN1_ENST00000449194.2_Missense_Mutation_p.Y52F|PPHLN1_ENST00000552761.1_Intron|PPHLN1_ENST00000432191.2_Intron	NM_016488.6	NP_057572.5	Q8NEY8	PPHLN_HUMAN	periphilin 1	52					keratinization (GO:0031424)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		TACAATAGATATTACAGTCAT	0.423																																						ENST00000395568.2																			0				breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(154-156)tAt>tTt		periphilin 1							97.0	90.0	92.0					12																	42745769		2203	4300	6503	SO:0001583	missense	51535				keratinization	cytoplasm|nucleus		g.chr12:42745769A>T	AY157850	CCDS8741.1, CCDS31777.1, CCDS41773.1, CCDS44860.1, CCDS44861.1, CCDS55817.1	12q12	2006-10-24				ENSG00000134283			19369	protein-coding gene	gene with protein product		608150					Standard	NM_016488		Approved		uc001rng.1	Q8NEY8		ENST00000395568.2:c.155A>T	12.37:g.42745769A>T	ENSP00000378935:p.Tyr52Phe					PPHLN1_ENST00000395580.3_Missense_Mutation_p.Y59F|PPHLN1_ENST00000317560.9_Intron|PPHLN1_ENST00000256678.8_Intron|PPHLN1_ENST00000552761.1_Intron|PPHLN1_ENST00000550535.1_3'UTR|PPHLN1_ENST00000432191.2_Intron|PPHLN1_ENST00000337898.6_Intron|PPHLN1_ENST00000449194.2_Missense_Mutation_p.Y52F|PPHLN1_ENST00000358314.7_Missense_Mutation_p.Y52F|PPHLN1_ENST00000549190.1_Missense_Mutation_p.Y70F	p.Y52F	NM_016488.6	NP_057572.5	Q8NEY8	PPHLN_HUMAN		GBM - Glioblastoma multiforme(48;0.0875)	3	239	+	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)	52					E9PAX8|Q86YT2|Q8IXN3|Q8TB09|Q96NB9|Q9NXL4|Q9P0P6|Q9P0R9	Missense_Mutation	SNP	ENST00000395568.2	37	c.155A>T	CCDS31777.1	.	.	.	.	.	.	.	.	.	.	A	11.35	1.612210	0.28712	.	.	ENSG00000134283	ENST00000549190;ENST00000395580;ENST00000358314;ENST00000395568;ENST00000449194;ENST00000546750;ENST00000547847	.	.	.	6.17	3.84	0.44239	.	0.525618	0.18751	N	0.132187	T	0.43964	0.1271	L	0.42245	1.32	0.80722	D	1	B;B;B;B;B	0.25441	0.126;0.006;0.028;0.028;0.028	B;B;B;B;B	0.23419	0.027;0.003;0.046;0.046;0.046	T	0.12863	-1.0531	9	0.10377	T	0.69	-5.6365	8.7341	0.34516	0.8536:0.0:0.1464:0.0	.	52;52;52;59;70	Q8NEY8;E9PAX8;Q8NEY8-8;Q8NEY8-2;F8W0Q9	PPHLN_HUMAN;.;.;.;.	F	70;59;52;52;52;59;52	.	ENSP00000351066:Y52F	Y	+	2	0	PPHLN1	41032036	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	4.209000	0.58493	0.568000	0.29311	0.533000	0.62120	TAT		0.423	PPHLN1-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404047.1	NM_201515		48	37	0	0	0	1	0	48	37				
OR6N2	81442	broad.mit.edu	37	1	158746644	158746644	+	Missense_Mutation	SNP	C	C	T	rs141853976		TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr1:158746644C>T	ENST00000339258.1	-	1	781	c.782G>A	c.(781-783)cGg>cAg	p.R261Q		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	261						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R261Q(1)		endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					CTTCTTTAGCCGCACATACAT	0.433													C|||	1	0.000199681	0.0	0.0014	5008	,	,		21438	0.0		0.0	False		,,,				2504	0.0					ENST00000339258.1																			1	Substitution - Missense(1)	p.R261Q(1)	skin(1)	endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(781-783)cGg>cAg		olfactory receptor, family 6, subfamily N, member 2							103.0	98.0	100.0					1																	158746644		2203	4300	6503	SO:0001583	missense	81442				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158746644C>T	BK004200	CCDS30906.1	1q23.1	2012-08-09			ENSG00000188340	ENSG00000188340		"""GPCR / Class A : Olfactory receptors"""	15035	protein-coding gene	gene with protein product							Standard	NM_001005278		Approved		uc010pir.2	Q8NGY6	OTTHUMG00000022775	ENST00000339258.1:c.782G>A	1.37:g.158746644C>T	ENSP00000344101:p.Arg261Gln						p.R261Q	NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN			1	781	-	all_hematologic(112;0.0378)		261					Q6IFR2	Missense_Mutation	SNP	ENST00000339258.1	37	c.782G>A	CCDS30906.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	17.23	3.335534	0.60853	.	.	ENSG00000188340	ENST00000339258	T	0.37235	1.21	4.94	4.94	0.65067	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33732	N	0.004604	T	0.26011	0.0634	L	0.41906	1.305	0.18873	N	0.999989	D	0.54047	0.964	P	0.49387	0.609	T	0.05451	-1.0884	10	0.32370	T	0.25	-8.2257	17.0978	0.86641	0.0:1.0:0.0:0.0	.	261	Q8NGY6	OR6N2_HUMAN	Q	261	ENSP00000344101:R261Q	ENSP00000344101:R261Q	R	-	2	0	OR6N2	157013268	0.000000	0.05858	0.165000	0.22776	0.540000	0.34992	0.635000	0.24629	2.547000	0.85894	0.650000	0.86243	CGG		0.433	OR6N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059068.1			13	44	0	0	0	1	0	13	44				
RYR3	6263	broad.mit.edu	37	15	34105109	34105109	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr15:34105109G>A	ENST00000389232.4	+	73	10373	c.10303G>A	c.(10303-10305)Gtt>Att	p.V3435I	RYR3_ENST00000415757.3_Missense_Mutation_p.V3430I	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3435					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTACAAGGATGTTCTGAAGAG	0.433																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(10303-10305)Gtt>Att		ryanodine receptor 3							97.0	93.0	94.0					15																	34105109		1883	4131	6014	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34105109G>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.10303G>A	15.37:g.34105109G>A	ENSP00000373884:p.Val3435Ile					RYR3_ENST00000415757.3_Missense_Mutation_p.V3430I	p.V3435I	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	73	10373	+		all_lung(180;7.18e-09)	3435					O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.10303G>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	9.750	1.167346	0.21621	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T	0.66995	-0.24	4.69	4.69	0.59074	.	0.234787	0.35870	N	0.002934	T	0.37758	0.1015	N	0.05306	-0.075	0.33752	D	0.620701	B;B	0.06786	0.001;0.0	B;B	0.09377	0.004;0.001	T	0.42068	-0.9473	10	0.05721	T	0.95	.	9.2762	0.37700	0.1308:0.0:0.8692:0.0	.	3430;3435	Q15413-2;Q15413	.;RYR3_HUMAN	I	3435;3435;3430	ENSP00000373884:V3435I	ENSP00000354735:V3430I	V	+	1	0	RYR3	31892401	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	3.964000	0.56780	2.581000	0.87130	0.655000	0.94253	GTT		0.433	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			11	33	0	0	0	1	0	11	33				
DMRTA1	63951	broad.mit.edu	37	9	22447696	22447696	+	Missense_Mutation	SNP	A	A	C			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr9:22447696A>C	ENST00000325870.2	+	1	857	c.632A>C	c.(631-633)gAa>gCa	p.E211A		NM_022160.2	NP_071443.2	Q5VZB9	DMRTA_HUMAN	DMRT-like family A1	211					male mating behavior (GO:0060179)|ovarian follicle development (GO:0001541)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563)		GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517)		CCCGCTTTCGAAGTTTTCCAG	0.542																																						ENST00000325870.1																			0				breast(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(631-633)gAa>gCa		DMRT-like family A1							27.0	31.0	30.0					9																	22447696		2177	4295	6472	SO:0001583	missense	63951				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:22447696A>C	AJ290954	CCDS6514.1	9p21.3	2008-05-15			ENSG00000176399	ENSG00000176399			13826	protein-coding gene	gene with protein product		614803					Standard	NM_022160		Approved		uc003zpp.1	Q5VZB9	OTTHUMG00000019693	ENST00000325870.2:c.632A>C	9.37:g.22447696A>C	ENSP00000319651:p.Glu211Ala						p.E211A	NM_022160.2	NP_071443.2	Q5VZB9	DMRTA_HUMAN		GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517)	1	857	+		all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563)	211					A1L481|Q8N8Y9|Q9H4B9	Missense_Mutation	SNP	ENST00000325870.2	37	c.632A>C	CCDS6514.1	.	.	.	.	.	.	.	.	.	.	A	13.80	2.345020	0.41498	.	.	ENSG00000176399	ENST00000325870	T	0.34859	1.34	5.67	5.67	0.87782	.	0.603350	0.16754	N	0.200884	T	0.32376	0.0827	M	0.67397	2.05	0.30356	N	0.784314	P	0.43094	0.799	B	0.33339	0.162	T	0.38802	-0.9644	10	0.21540	T	0.41	-1.325	12.3122	0.54935	1.0:0.0:0.0:0.0	.	211	Q5VZB9	DMRTA_HUMAN	A	211	ENSP00000319651:E211A	ENSP00000319651:E211A	E	+	2	0	DMRTA1	22437696	0.125000	0.22332	0.016000	0.15963	0.031000	0.12232	2.417000	0.44653	2.164000	0.68074	0.533000	0.62120	GAA		0.542	DMRTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051935.2			34	43	0	0	0	1	0	34	43				
CRADD	8738	broad.mit.edu	37	12	94072588	94072588	+	Missense_Mutation	SNP	G	G	A	rs534423825		TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr12:94072588G>A	ENST00000542893.2	+	2	356	c.38G>A	c.(37-39)cGc>cAc	p.R13H	CRADD_ENST00000552983.1_Missense_Mutation_p.R13H|CRADD_ENST00000541813.1_Missense_Mutation_p.R13H|CRADD_ENST00000548483.1_Missense_Mutation_p.R13H|CRADD_ENST00000332896.3_Missense_Mutation_p.R13H|CRADD_ENST00000552033.1_Missense_Mutation_p.R13H			P78560	CRADD_HUMAN	CASP2 and RIPK1 domain containing adaptor with death domain	13	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to mechanical stimulus (GO:0071260)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|positive regulation of apoptotic signaling pathway (GO:2001235)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	death domain binding (GO:0070513)|protease binding (GO:0002020)|protein binding, bridging (GO:0030674)			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)	8						CGCTCACTTCGCCTGGAGCTG	0.473																																						ENST00000542893.2																			0				endometrium(1)|large_intestine(5)|lung(1)|ovary(1)	8						c.(37-39)cGc>cAc		CASP2 and RIPK1 domain containing adaptor with death domain							73.0	70.0	71.0					12																	94072588		2203	4300	6503	SO:0001583	missense	8738				apoptosis|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|signal transduction	intracellular	death domain binding|protease binding|protein binding, bridging	g.chr12:94072588G>A	U84388	CCDS9048.1	12q21.33-q23.1	2008-08-04				ENSG00000169372			2340	protein-coding gene	gene with protein product	"""RIP-associated ICH1/CED3-homologous protein with death domain"""	603454				8985253, 9044836	Standard	NM_003805		Approved	RAIDD	uc001tda.3	P78560		ENST00000542893.2:c.38G>A	12.37:g.94072588G>A	ENSP00000439068:p.Arg13His					CRADD_ENST00000548483.1_Missense_Mutation_p.R13H|CRADD_ENST00000552033.1_Missense_Mutation_p.R13H|CRADD_ENST00000332896.3_Missense_Mutation_p.R13H|CRADD_ENST00000541813.1_Missense_Mutation_p.R13H|CRADD_ENST00000552983.1_Missense_Mutation_p.R13H	p.R13H			P78560	CRADD_HUMAN			2	356	+			13			CARD.		B7Z2Q5	Missense_Mutation	SNP	ENST00000542893.2	37	c.38G>A	CCDS9048.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.044802	0.93685	.	.	ENSG00000169372	ENST00000552983;ENST00000332896;ENST00000552033;ENST00000548483;ENST00000542893;ENST00000541813	T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93	5.19	5.19	0.71726	DEATH-like (2);Caspase Recruitment (3);	0.000000	0.85682	D	0.000000	T	0.67571	0.2907	M	0.77406	2.37	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	T	0.72243	-0.4350	10	0.87932	D	0	-0.9326	18.7029	0.91627	0.0:0.0:1.0:0.0	.	13;13	F5H7C2;P78560	.;CRADD_HUMAN	H	13	ENSP00000449570:R13H;ENSP00000327647:R13H;ENSP00000449664:R13H;ENSP00000448685:R13H;ENSP00000439068:R13H;ENSP00000442624:R13H	ENSP00000327647:R13H	R	+	2	0	CRADD	92596719	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.534000	0.90620	2.403000	0.81681	0.655000	0.94253	CGC		0.473	CRADD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408515.1	NM_003805		36	34	0	0	0	1	0	36	34				
EGR1	1958	broad.mit.edu	37	5	137801607	137801607	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr5:137801607G>C	ENST00000239938.4	+	1	429	c.157G>C	c.(157-159)Ggg>Cgg	p.G53R		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	53					BMP signaling pathway (GO:0030509)|cellular response to antibiotic (GO:0071236)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to gamma radiation (GO:0071480)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hyperoxia (GO:0071455)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to isoquinoline alkaloid (GO:0071317)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mycophenolic acid (GO:0071506)|cellular response to steroid hormone stimulus (GO:0071383)|circadian rhythm (GO:0007623)|cytokine-mediated signaling pathway (GO:0019221)|glomerular mesangial cell proliferation (GO:0072110)|interleukin-1-mediated signaling pathway (GO:0070498)|learning or memory (GO:0007611)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|positive regulation of glomerular metanephric mesangial cell proliferation (GO:0072303)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein sumoylation (GO:0033233)|response to amphetamine (GO:0001975)|response to carbon monoxide (GO:0034465)|response to cocaine (GO:0042220)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to norepinephrine (GO:0071873)|response to nutrient levels (GO:0031667)|skeletal muscle cell differentiation (GO:0035914)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CGGCGCCGCCGGGGCCCCAGA	0.682																																						ENST00000239938.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6						c.(157-159)Ggg>Cgg		early growth response 1							33.0	34.0	34.0					5																	137801607		2203	4299	6502	SO:0001583	missense	1958				cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:137801607G>C	M62829	CCDS4206.1	5q23-q31	2013-01-08			ENSG00000120738	ENSG00000120738		"""Zinc fingers, C2H2-type"""	3238	protein-coding gene	gene with protein product	"""nerve growth factor-induced protein A"", ""transcription factor ETR103"", ""zinc finger protein 225"", ""early growth response protein 1"""	128990				3127059	Standard	NM_001964		Approved	TIS8, G0S30, NGFI-A, KROX-24, ZIF-268, AT225, ZNF225	uc003ldb.1	P18146	OTTHUMG00000129197	ENST00000239938.4:c.157G>C	5.37:g.137801607G>C	ENSP00000239938:p.Gly53Arg						p.G53R	NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		1	429	+			53						Missense_Mutation	SNP	ENST00000239938.4	37	c.157G>C	CCDS4206.1	.	.	.	.	.	.	.	.	.	.	g	13.86	2.362383	0.41902	.	.	ENSG00000120738	ENST00000535792;ENST00000411801;ENST00000239938	T	0.10288	2.89	5.07	4.21	0.49690	.	0.167723	0.52532	D	0.000072	T	0.18882	0.0453	L	0.43152	1.355	0.33698	D	0.614127	D;B	0.71674	0.998;0.294	P;B	0.58210	0.835;0.119	T	0.19811	-1.0294	10	0.87932	D	0	-5.1021	10.1701	0.42904	0.0:0.1481:0.698:0.1539	.	53;53	B4DNX4;P18146	.;EGR1_HUMAN	R	53	ENSP00000239938:G53R	ENSP00000239938:G53R	G	+	1	0	EGR1	137829506	1.000000	0.71417	0.986000	0.45419	0.015000	0.08874	3.582000	0.53921	1.386000	0.46466	-0.323000	0.08544	GGG		0.682	EGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251274.1	NM_001964		19	47	0	0	0	1	0	19	47				
TMC1	117531	broad.mit.edu	37	9	75431091	75431091	+	Silent	SNP	C	C	T			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr9:75431091C>T	ENST00000297784.5	+	19	2268	c.1728C>T	c.(1726-1728)aaC>aaT	p.N576N	TMC1_ENST00000396237.3_Silent_p.N576N|TMC1_ENST00000486417.1_3'UTR|TMC1_ENST00000340019.3_Silent_p.N576N	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	576					auditory receptor cell development (GO:0060117)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						TCAGTGGCAACGTCCTCGCTC	0.458																																					Pancreas(75;173 1345 14232 34245 43413)	ENST00000297784.5																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(1726-1728)aaC>aaT		transmembrane channel-like 1							207.0	160.0	176.0					9																	75431091		2203	4300	6503	SO:0001819	synonymous_variant	117531				sensory perception of sound	integral to membrane		g.chr9:75431091C>T	AF417578	CCDS6643.1	9q21	2014-01-28			ENSG00000165091	ENSG00000165091			16513	protein-coding gene	gene with protein product		606706	"""transmembrane, cochlear expressed, 1"""	DFNA36, DFNB7, DFNB11		11850618, 11850623	Standard	NM_138691		Approved		uc004aiz.1	Q8TDI8	OTTHUMG00000020014	ENST00000297784.5:c.1728C>T	9.37:g.75431091C>T						TMC1_ENST00000486417.1_3'UTR|TMC1_ENST00000340019.3_Silent_p.N576N|TMC1_ENST00000396237.3_Silent_p.N576N	p.N576N	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN			19	2268	+			576					A8MVZ2|B1AM91	Silent	SNP	ENST00000297784.5	37	c.1728C>T	CCDS6643.1																																																																																				0.458	TMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052655.1			24	78	0	0	0	1	0	24	78				
STAT5B	6777	broad.mit.edu	37	17	40376881	40376881	+	Silent	SNP	C	C	T			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr17:40376881C>T	ENST00000293328.3	-	4	459	c.291G>A	c.(289-291)acG>acA	p.T97T		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	97					2-oxoglutarate metabolic process (GO:0006103)|acute-phase response (GO:0006953)|allantoin metabolic process (GO:0000255)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|liver development (GO:0001889)|luteinization (GO:0001553)|natural killer cell differentiation (GO:0001779)|negative regulation of apoptotic process (GO:0043066)|negative regulation of erythrocyte differentiation (GO:0045647)|oxaloacetate metabolic process (GO:0006107)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of cellular component movement (GO:0051272)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone metabolic process (GO:0042448)|prolactin signaling pathway (GO:0038161)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to lipopolysaccharide (GO:0032496)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription from RNA polymerase II promoter (GO:0006366)|valine metabolic process (GO:0006573)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|glucocorticoid receptor binding (GO:0035259)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	AGCGGTCATACGTGTTCTGAA	0.542																																						ENST00000293328.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(289-291)acG>acA		signal transducer and activator of transcription 5B	Dasatinib(DB01254)						112.0	87.0	95.0					17																	40376881		2203	4300	6503	SO:0001819	synonymous_variant	6777				2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity	g.chr17:40376881C>T	BC065227	CCDS11423.1	17q11.2	2014-09-17			ENSG00000173757	ENSG00000173757		"""SH2 domain containing"""	11367	protein-coding gene	gene with protein product		604260				8631883	Standard	NM_012448		Approved		uc002hzh.3	P51692	OTTHUMG00000150724	ENST00000293328.3:c.291G>A	17.37:g.40376881C>T							p.T97T	NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.135)	4	459	-		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)	97					Q8WWS8	Silent	SNP	ENST00000293328.3	37	c.291G>A	CCDS11423.1																																																																																				0.542	STAT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319797.1	NM_012448		5	49	0	0	0	1	0	5	49				
CIDEC	63924	broad.mit.edu	37	3	9911929	9911929	+	Silent	SNP	T	T	C			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr3:9911929T>C	ENST00000336832.2	-	4	424	c.285A>G	c.(283-285)gaA>gaG	p.E95E	CIDEC_ENST00000430427.1_Silent_p.E105E|CIDEC_ENST00000455015.1_Silent_p.E21E|CIDEC_ENST00000423850.1_Silent_p.E21E|CIDEC_ENST00000383817.1_Intron|CIDEC_ENST00000443115.1_Intron	NM_001199552.1|NM_001199623.1|NM_022094.3	NP_001186481.1|NP_001186552.1|NP_071377.2	Q96AQ7	CIDEC_HUMAN	cell death-inducing DFFA-like effector c	95	CIDE-N. {ECO:0000255|PROSITE- ProRule:PRU00447}.				apoptotic process (GO:0006915)|execution phase of apoptosis (GO:0097194)|lipid particle organization (GO:0034389)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|lipid particle (GO:0005811)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	8	Medulloblastoma(99;0.227)					GGAAGTACTCTTCTGTCTCTA	0.562																																						ENST00000336832.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	8						c.(283-285)gaA>gaG		cell death-inducing DFFA-like effector c							79.0	77.0	78.0					3																	9911929		2203	4300	6503	SO:0001819	synonymous_variant	63924				apoptosis|induction of apoptosis	cytosol|focal adhesion|nucleus		g.chr3:9911929T>C		CCDS2587.1, CCDS56239.1, CCDS74897.1	3p25	2004-07-26			ENSG00000187288	ENSG00000187288			24229	protein-coding gene	gene with protein product		612120				12429024	Standard	NM_001199623		Approved	CIDE-3, FLJ20871, Fsp27	uc021wsw.1	Q96AQ7	OTTHUMG00000128522	ENST00000336832.2:c.285A>G	3.37:g.9911929T>C						CIDEC_ENST00000423850.1_Silent_p.E21E|CIDEC_ENST00000455015.1_Silent_p.E21E|CIDEC_ENST00000443115.1_Intron|CIDEC_ENST00000383817.1_Intron|CIDEC_ENST00000430427.1_Silent_p.E105E	p.E95E	NM_001199552.1|NM_001199623.1|NM_022094.3	NP_001186481.1|NP_001186552.1|NP_071377.2	Q96AQ7	CIDEC_HUMAN			4	424	-	Medulloblastoma(99;0.227)		95			CIDE-N.		C9JMN7|Q67DW9|Q9GZY9	Silent	SNP	ENST00000336832.2	37	c.285A>G	CCDS2587.1																																																																																				0.562	CIDEC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250334.1	NM_022094		5	58	0	0	0	1	0	5	58				
ACO1	48	broad.mit.edu	37	9	32436283	32436283	+	Missense_Mutation	SNP	G	G	A	rs376485136		TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr9:32436283G>A	ENST00000309951.6	+	18	2273	c.2135G>A	c.(2134-2136)cGc>cAc	p.R712H	ACO1_ENST00000541043.1_Missense_Mutation_p.R613H|ACO1_ENST00000379923.1_Missense_Mutation_p.R712H	NM_002197.2	NP_002188.1	P21399	ACOC_HUMAN	aconitase 1, soluble	712					cellular iron ion homeostasis (GO:0006879)|citrate metabolic process (GO:0006101)|intestinal absorption (GO:0050892)|post-embryonic development (GO:0009791)|regulation of translation (GO:0006417)|response to iron(II) ion (GO:0010040)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		TATGGCTCCCGCCGAGGTAAT	0.478																																						ENST00000379923.1																			0				breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30						c.(2134-2136)cGc>cAc		aconitase 1, soluble		G	HIS/ARG	0,4406		0,0,2203	128.0	117.0	121.0		2135	5.1	1.0	9		121	1,8599	1.2+/-3.3	0,1,4299	no	missense	ACO1	NM_002197.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	712/890	32436283	1,13005	2203	4300	6503	SO:0001583	missense	48				citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding	g.chr9:32436283G>A	M58510	CCDS6525.1	9p21.1	2013-05-21			ENSG00000122729	ENSG00000122729	4.2.1.3		117	protein-coding gene	gene with protein product	"""aconitate hydratase, cytoplasmic"""	100880		IREB1		2172968, 2771641	Standard	NM_002197		Approved	IRP1, IREBP	uc003zqw.4	P21399	OTTHUMG00000019740	ENST00000309951.6:c.2135G>A	9.37:g.32436283G>A	ENSP00000309477:p.Arg712His					ACO1_ENST00000541043.1_Missense_Mutation_p.R613H|ACO1_ENST00000309951.5_Missense_Mutation_p.R712H	p.R712H	NM_001278352.1	NP_001265281.1	P21399	ACOC_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)	19	2341	+			712					D3DRK7|Q14652|Q5VZA7	Missense_Mutation	SNP	ENST00000309951.6	37	c.2135G>A	CCDS6525.1	.	.	.	.	.	.	.	.	.	.	G	33	5.209973	0.95069	0.0	1.16E-4	ENSG00000122729	ENST00000309951;ENST00000379923;ENST00000541043	T;T;T	0.55052	0.54;0.54;1.57	5.94	5.05	0.67936	Aconitase/3-isopropylmalate dehydratase, swivel (2);Aconitase A/isopropylmalate dehydratase small subunit, swivel (1);	0.000000	0.85682	D	0.000000	T	0.76385	0.3980	M	0.89214	3.015	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81673	-0.0826	10	0.87932	D	0	-13.7237	14.1883	0.65620	0.0727:0.0:0.9273:0.0	.	712	P21399	ACOC_HUMAN	H	712;712;613	ENSP00000309477:R712H;ENSP00000369255:R712H;ENSP00000438733:R613H	ENSP00000309477:R712H	R	+	2	0	ACO1	32426283	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	1.526000	0.49068	0.650000	0.86243	CGC		0.478	ACO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051998.3	NM_002197		28	91	0	0	0	1	0	28	91				
MUC16	94025	broad.mit.edu	37	19	9077090	9077090	+	Silent	SNP	G	G	T			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr19:9077090G>T	ENST00000397910.4	-	3	10559	c.10356C>A	c.(10354-10356)atC>atA	p.I3452I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3453	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGTGGAGGTGATGTATAATG	0.483																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(10354-10356)atC>atA		mucin 16, cell surface associated							144.0	140.0	141.0					19																	9077090		2114	4231	6345	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9077090G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.10356C>A	19.37:g.9077090G>T							p.I3452I	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	10559	-			3453			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.10356C>A	CCDS54212.1																																																																																				0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		11	42	1	0	0.000673444	1	0.000688409	11	42				
CAPN9	10753	broad.mit.edu	37	1	230933952	230933952	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr1:230933952C>G	ENST00000271971.2	+	19	2145	c.2032C>G	c.(2032-2034)Ctc>Gtc	p.L678V	CAPN9_ENST00000354537.1_Missense_Mutation_p.L652V|RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000366666.2_Missense_Mutation_p.L615V|CAPN9_ENST00000480004.1_Intron	NM_006615.2	NP_006606.1	O14815	CAN9_HUMAN	calpain 9	678	Domain IV.				digestion (GO:0007586)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				GTTCATTCATCTCAATATAAA	0.483											OREG0014318	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000354537.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(1954-1956)Ctc>Gtc		calpain 9							146.0	153.0	151.0					1																	230933952		2203	4300	6503	SO:0001583	missense	10753				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr1:230933952C>G	AF022799	CCDS1586.1, CCDS31053.1	1q42.11-q42.3	2013-01-10	2004-11-11		ENSG00000135773	ENSG00000135773		"""EF-hand domain containing"""	1486	protein-coding gene	gene with protein product	"""novel calpain large subunit-4"""	606401	"""calpain 9 (nCL-4)"""			9524069, 10835488	Standard	XM_005273010		Approved	nCL-4, GC36	uc001htz.1	O14815	OTTHUMG00000037779	ENST00000271971.2:c.2032C>G	1.37:g.230933952C>G	ENSP00000271971:p.Leu678Val		OREG0014318	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2346	CAPN9_ENST00000271971.2_Missense_Mutation_p.L678V|CAPN9_ENST00000366666.2_Missense_Mutation_p.L615V|CAPN9_ENST00000480004.1_Intron	p.L652V	NM_016452.1	NP_057536.1	O14815	CAN9_HUMAN			18	2036	+	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)	678			Domain IV.		B1APS1|B1AQI0|Q9NS74	Missense_Mutation	SNP	ENST00000271971.2	37	c.1954C>G	CCDS1586.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.957597	0.53400	.	.	ENSG00000135773	ENST00000271971;ENST00000354537;ENST00000366666	D;D;D	0.95622	-3.76;-3.76;-3.76	5.22	5.22	0.72569	.	0.202030	0.42294	D	0.000740	D	0.94581	0.8254	L	0.60957	1.885	0.54753	D	0.999988	P;P;B	0.43024	0.685;0.798;0.432	B;B;B	0.43123	0.281;0.409;0.183	D	0.95138	0.8261	10	0.72032	D	0.01	.	16.0616	0.80841	0.0:1.0:0.0:0.0	.	615;652;678	E7ESS6;O14815-2;O14815	.;.;CAN9_HUMAN	V	678;652;615	ENSP00000271971:L678V;ENSP00000346538:L652V;ENSP00000355626:L615V	ENSP00000271971:L678V	L	+	1	0	CAPN9	229000575	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.767000	0.47637	2.605000	0.88082	0.655000	0.94253	CTC		0.483	CAPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092179.1	NM_006615		36	125	0	0	0	1	0	36	125				
EXOC5	10640	broad.mit.edu	37	14	57689025	57689025	+	Splice_Site	SNP	C	C	G			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr14:57689025C>G	ENST00000413566.2	-	13	1765		c.e13+1		EXOC5_ENST00000340918.7_Splice_Site	NM_006544.3	NP_006535.1	O00471	EXOC5_HUMAN	exocyst complex component 5						cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|vesicle docking (GO:0048278)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	22						AATATACTTACCAGCAAGTCC	0.323																																						ENST00000413566.2																			0				breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	22						c.e13+1		exocyst complex component 5							86.0	74.0	78.0					14																	57689025		1836	4088	5924	SO:0001630	splice_region_variant	10640				exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking	cytoplasm		g.chr14:57689025C>G	U85946	CCDS45111.1	14q22.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000070367	ENSG00000070367			10696	protein-coding gene	gene with protein product		604469	"""SEC10 (S. cerevisiae)-like 1"", ""SEC10-like 1 (S. cerevisiae)"""	SEC10L1		9119050	Standard	XM_005267272		Approved	SEC10, SEC10P	uc001xct.3	O00471	OTTHUMG00000171309	ENST00000413566.2:c.1405+1G>C	14.37:g.57689025C>G						EXOC5_ENST00000340918.7_Splice_Site		NM_006544.3	NP_006535.1	O00471	EXOC5_HUMAN			13	1765	-								B2R6C5	Splice_Site	SNP	ENST00000413566.2	37		CCDS45111.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.093548	0.76756	.	.	ENSG00000070367	ENST00000413566;ENST00000340918	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8299	0.92133	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EXOC5	56758778	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	6.739000	0.74827	2.528000	0.85240	0.585000	0.79938	.		0.323	EXOC5-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412905.1	NM_006544	Intron	12	31	0	0	0	1	0	12	31				
BMS1P20	96610	broad.mit.edu	37	22	22663086	22663086	+	RNA	SNP	T	T	G	rs1054157|rs71318762	byFrequency	TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr22:22663086T>G	ENST00000426066.1	+	0	525					NR_027293.1				BMS1 pseudogene 20																		AGCTGCCACATAAGTTGTCCT	0.299													.|||	3161	0.63119	0.9652	0.4726	5008	,	,		9186	0.4077		0.5219	False		,,,				2504	0.635					ENST00000426066.1																			0																																																			96610							g.chr22:22663086T>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22663086T>G								NR_027293.1						0	525	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.299	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			7	15	0	0	0	1	0	7	15				
POM121L9P	29774	broad.mit.edu	37	22	24659675	24659675	+	RNA	SNP	G	G	A			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr22:24659675G>A	ENST00000414583.2	+	0	3200					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		ATGCCTCGGCGCTCGATCTCC	0.622																																						ENST00000414583.2																			0																																																			29774							g.chr22:24659675G>A	AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24659675G>A								NR_003714.1						0	3200	+									RNA	SNP	ENST00000414583.2	37																																																																																						0.622	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1	NM_014549		5	39	0	0	0	1	0	5	39				
NXF1	10482	broad.mit.edu	37	11	62564003	62564003	+	Silent	SNP	C	C	A			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr11:62564003C>A	ENST00000532297.1	-	15	1844	c.1215G>T	c.(1213-1215)ggG>ggT	p.G405G	NXF1_ENST00000531709.2_3'UTR|NXF1_ENST00000533048.1_5'UTR|NXF1_ENST00000294172.2_Silent_p.G405G			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	405	NTF2. {ECO:0000255|PROSITE- ProRule:PRU00137}.				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear inclusion body (GO:0042405)|nuclear pore (GO:0005643)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CATCCAGGAGCCCTTGTCGGT	0.507																																						ENST00000532297.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1213-1215)ggG>ggT		nuclear RNA export factor 1							103.0	102.0	102.0					11																	62564003		2201	4299	6500	SO:0001819	synonymous_variant	10482				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding	g.chr11:62564003C>A	AF112880	CCDS8037.1, CCDS44629.1	11q12-q13	2008-07-21			ENSG00000162231	ENSG00000162231			8071	protein-coding gene	gene with protein product	"""tip associating protein"""	602647				9175835, 9660949	Standard	NM_001081491		Approved	TAP, Mex67, DKFZp667O0311	uc001nvf.1	Q9UBU9	OTTHUMG00000167612	ENST00000532297.1:c.1215G>T	11.37:g.62564003C>A						NXF1_ENST00000531709.2_3'UTR|NXF1_ENST00000294172.2_Silent_p.G405G	p.G405G			Q9UBU9	NXF1_HUMAN			15	1844	-			405			NTF2.		B4E269|Q99799|Q9UQL2	Silent	SNP	ENST00000532297.1	37	c.1215G>T	CCDS8037.1																																																																																				0.507	NXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395365.2	NM_006362		17	87	1	0	7.07596e-05	1	7.56963e-05	17	87				
SUV420H1	51111	broad.mit.edu	37	11	67939092	67939092	+	Silent	SNP	T	T	A			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr11:67939092T>A	ENST00000304363.4	-	7	1091	c.738A>T	c.(736-738)ggA>ggT	p.G246G	SUV420H1_ENST00000402185.2_Silent_p.G223G|SUV420H1_ENST00000401547.2_Silent_p.G246G|SUV420H1_ENST00000402789.1_Silent_p.G246G|SUV420H1_ENST00000405515.1_Silent_p.G246G	NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	246	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						AGTCGTTTTCTCCATGTCTAA	0.403																																						ENST00000304363.4																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						c.(736-738)ggA>ggT		suppressor of variegation 4-20 homolog 1 (Drosophila)							125.0	124.0	125.0					11																	67939092		2200	4294	6494	SO:0001819	synonymous_variant	51111				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr11:67939092T>A	AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"""Chromatin-modifying enzymes / K-methyltransferases"""	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.738A>T	11.37:g.67939092T>A						SUV420H1_ENST00000405515.1_Silent_p.G246G|SUV420H1_ENST00000402789.1_Silent_p.G246G|SUV420H1_ENST00000402185.2_Silent_p.G223G|SUV420H1_ENST00000401547.2_Silent_p.G246G	p.G246G	NM_017635.3	NP_060105.3	Q4FZB7	SV421_HUMAN			7	1091	-			246			SET.		B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Silent	SNP	ENST00000304363.4	37	c.738A>T	CCDS31623.1																																																																																				0.403	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318319.1	NM_017635		22	52	0	0	0	1	0	22	52				
PEAK1	79834	broad.mit.edu	37	15	77473569	77473569	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr15:77473569C>T	ENST00000560626.2	-	4	1175	c.700G>A	c.(700-702)Gag>Aag	p.E234K	PEAK1_ENST00000312493.4_Missense_Mutation_p.E234K|PEAK1_ENST00000558305.1_Missense_Mutation_p.E234K			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	234					cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										TCACTCTCCTCGCCACTGGAA	0.488																																						ENST00000560626.2																			0											c.(700-702)Gag>Aag		pseudopodium-enriched atypical kinase 1							125.0	122.0	123.0					15																	77473569		1975	4153	6128	SO:0001583	missense	79834				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:77473569C>T		CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.700G>A	15.37:g.77473569C>T	ENSP00000452796:p.Glu234Lys					PEAK1_ENST00000312493.4_Missense_Mutation_p.E234K|PEAK1_ENST00000558305.1_Missense_Mutation_p.E234K	p.E234K			Q9H792	PEAK1_HUMAN			4	1175	-			234					Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Missense_Mutation	SNP	ENST00000560626.2	37	c.700G>A	CCDS42062.1	.	.	.	.	.	.	.	.	.	.	C	16.30	3.084147	0.55861	.	.	ENSG00000173517	ENST00000312493	T	0.70869	-0.52	5.42	5.42	0.78866	.	0.171016	0.21018	U	0.081565	T	0.56140	0.1965	N	0.24115	0.695	0.39335	D	0.965483	P	0.48640	0.913	B	0.34038	0.174	T	0.64433	-0.6409	10	0.46703	T	0.11	-8.6502	19.2384	0.93871	0.0:1.0:0.0:0.0	.	234	Q9H792	PEAK1_HUMAN	K	234	ENSP00000309230:E234K	ENSP00000309230:E234K	E	-	1	0	AC087465.1	75260624	0.999000	0.42202	0.976000	0.42696	0.990000	0.78478	4.754000	0.62191	2.549000	0.85964	0.650000	0.86243	GAG		0.488	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3			18	98	0	0	0	1	0	18	98				
ZBTB48	3104	broad.mit.edu	37	1	6648389	6648389	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr1:6648389G>A	ENST00000377674.4	+	9	1726	c.1568G>A	c.(1567-1569)tGc>tAc	p.C523Y		NM_001278647.1|NM_001278648.1|NM_005341.2	NP_001265576.1|NP_001265577.1|NP_005332.1	P10074	ZBT48_HUMAN	zinc finger and BTB domain containing 48	523					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)		CCCTTCAGTTGCGAGTTCTGT	0.647																																					Esophageal Squamous(125;1449 1657 4031 29866 49542)	ENST00000377674.4																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						c.(1567-1569)tGc>tAc		zinc finger and BTB domain containing 48							68.0	58.0	62.0					1																	6648389		2203	4300	6503	SO:0001583	missense	3104					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:6648389G>A	BC013573	CCDS84.1	1p36.3	2013-01-08	2006-09-20	2006-09-20	ENSG00000204859	ENSG00000204859		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	4930	protein-coding gene	gene with protein product		165270	"""GLI-Kruppel family member HKR3"""	HKR3		2850480, 8661141	Standard	NM_001278647		Approved	ZNF855	uc001anx.3	P10074	OTTHUMG00000001438	ENST00000377674.4:c.1568G>A	1.37:g.6648389G>A	ENSP00000366902:p.Cys523Tyr						p.C523Y	NM_001278647.1|NM_001278648.1|NM_005341.2	NP_001265576.1|NP_001265577.1|NP_005332.1	P10074	ZBT48_HUMAN		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)	9	1726	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)	523					Q5SY19	Missense_Mutation	SNP	ENST00000377674.4	37	c.1568G>A	CCDS84.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.225608	0.79576	.	.	ENSG00000204859	ENST00000377674	D	0.85088	-1.94	5.24	5.24	0.73138	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.95284	0.8470	H	0.96691	3.865	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96687	0.9508	10	0.87932	D	0	-12.2239	18.1963	0.89823	0.0:0.0:1.0:0.0	.	523	P10074	ZBT48_HUMAN	Y	523	ENSP00000366902:C523Y	ENSP00000366902:C523Y	C	+	2	0	ZBTB48	6570976	1.000000	0.71417	0.999000	0.59377	0.839000	0.47603	9.852000	0.99516	2.629000	0.89072	0.514000	0.50259	TGC		0.647	ZBTB48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004193.1	NM_005341		14	45	0	0	0	1	0	14	45				
NDUFS2	4720	broad.mit.edu	37	1	161172205	161172205	+	Silent	SNP	C	C	T			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr1:161172205C>T	ENST00000367993.3	+	2	478	c.30C>T	c.(28-30)ttC>ttT	p.F10F	NDUFS2_ENST00000476409.2_5'UTR|NDUFS2_ENST00000392179.4_Silent_p.F10F	NM_004550.4	NP_004541.1	O75306	NDUS2_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)	10					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|quinone binding (GO:0048038)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	18	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Doxorubicin(DB00997)	TGTGCGGCTTCCGGGGCGTCG	0.657																																						ENST00000392179.4																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	18						c.(28-30)ttC>ttT		NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)	NADH(DB00157)						18.0	20.0	20.0					1																	161172205		2201	4300	6501	SO:0001819	synonymous_variant	4720				mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding	g.chr1:161172205C>T	BC008868	CCDS1224.1, CCDS53404.1	1q23.3	2011-07-04	2002-08-29		ENSG00000158864	ENSG00000158864	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7708	protein-coding gene	gene with protein product	"""complex I 49kDa subunit"", ""NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial"""	602985	"""NADH dehydrogenase (ubiquinone) Fe-S protein 2 (49kD) (NADH-coenzyme Q reductase)"""			1832859, 9585441	Standard	NM_004550		Approved	CI-49	uc001fyw.3	O75306	OTTHUMG00000034344	ENST00000367993.3:c.30C>T	1.37:g.161172205C>T						NDUFS2_ENST00000367993.3_Silent_p.F10F|NDUFS2_ENST00000476409.2_5'UTR	p.F10F	NM_001166159.1	NP_001159631.1	O75306	NDUS2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		1	269	+	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		10					D3DVG7|J3KPM7|Q5VTW0|Q969P3|Q9UEV3	Silent	SNP	ENST00000367993.3	37	c.30C>T	CCDS1224.1																																																																																				0.657	NDUFS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083015.1	NM_004550		4	5	0	0	0	1	0	4	5				
GPR161	23432	broad.mit.edu	37	1	168054849	168054849	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr1:168054849C>T	ENST00000367838.1	-	8	1823	c.1510G>A	c.(1510-1512)Ggc>Agc	p.G504S	GPR161_ENST00000361697.2_Missense_Mutation_p.G504S|GPR161_ENST00000367836.1_Missense_Mutation_p.G372S|GPR161_ENST00000539777.1_Missense_Mutation_p.G426S|GPR161_ENST00000546300.1_Missense_Mutation_p.G390S|GPR161_ENST00000537209.1_Missense_Mutation_p.G524S|GPR161_ENST00000271357.5_Missense_Mutation_p.G504S|GPR161_ENST00000367835.1_Missense_Mutation_p.G504S	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	504					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)|recycling endosome (GO:0055037)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					GTTCTGCTGCCTCGGCGGCCC	0.607																																						ENST00000367838.1																			0				breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26						c.(1510-1512)Ggc>Agc		G protein-coupled receptor 161							63.0	76.0	72.0					1																	168054849		2203	4300	6503	SO:0001583	missense	23432				multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:168054849C>T	AF091890	CCDS1268.1, CCDS58042.1, CCDS58043.1, CCDS58044.1, CCDS58045.1, CCDS72978.1	1q23.3	2012-08-21			ENSG00000143147	ENSG00000143147		"""GPCR / Class A : Orphans"""	23694	protein-coding gene	gene with protein product		612250				11959142	Standard	NM_153832		Approved	RE2	uc009wvo.4	Q8N6U8	OTTHUMG00000034651	ENST00000367838.1:c.1510G>A	1.37:g.168054849C>T	ENSP00000356812:p.Gly504Ser					GPR161_ENST00000271357.5_Missense_Mutation_p.G504S|GPR161_ENST00000546300.1_Missense_Mutation_p.G390S|GPR161_ENST00000367836.1_Missense_Mutation_p.G372S|GPR161_ENST00000537209.1_Missense_Mutation_p.G524S|GPR161_ENST00000539777.1_Missense_Mutation_p.G426S|GPR161_ENST00000367835.1_Missense_Mutation_p.G504S|GPR161_ENST00000361697.2_Missense_Mutation_p.G504S	p.G504S	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN			8	1823	-	all_hematologic(923;0.215)		504					B3KV34|B7Z5D7|B7Z5E8|B7Z5Z6|F5GXD6|F5H6J7|O75963|Q5TGK0|Q5TGK1|Q5TGK2	Missense_Mutation	SNP	ENST00000367838.1	37	c.1510G>A	CCDS1268.1	.	.	.	.	.	.	.	.	.	.	c	21.1	4.097213	0.76870	.	.	ENSG00000143147	ENST00000367838;ENST00000271357;ENST00000367836;ENST00000367835;ENST00000546300;ENST00000539777;ENST00000537209;ENST00000361697	T;T;D;T;T;T;T;T	0.81739	-0.05;-0.05;-1.53;-0.05;-1.06;-1.05;0.03;-0.05	5.75	4.84	0.62591	.	0.082583	0.49305	D	0.000153	T	0.75406	0.3845	L	0.47716	1.5	0.37928	D	0.931904	D;P;P;P;P	0.55605	0.972;0.877;0.759;0.953;0.877	P;P;B;P;P	0.56398	0.797;0.494;0.256;0.631;0.494	T	0.77178	-0.2683	9	0.40728	T	0.16	-33.2718	10.4128	0.44303	0.0:0.8502:0.0:0.1498	.	524;390;426;524;504	F5GXD6;B7Z5E8;F5H6J7;B7Z5Z6;Q8N6U8	.;.;.;.;GP161_HUMAN	S	504;504;372;504;390;426;524;504	ENSP00000356812:G504S;ENSP00000271357:G504S;ENSP00000356810:G372S;ENSP00000356809:G504S;ENSP00000444348:G390S;ENSP00000437576:G426S;ENSP00000441039:G524S;ENSP00000355194:G504S	ENSP00000271357:G504S	G	-	1	0	GPR161	166321473	0.999000	0.42202	1.000000	0.80357	0.987000	0.75469	3.075000	0.50073	1.425000	0.47237	0.645000	0.84053	GGC		0.607	GPR161-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083829.1	NM_007369		4	150	0	0	0	1	0	4	150				
BMP2K	55589	broad.mit.edu	37	4	79792085	79792085	+	Missense_Mutation	SNP	G	G	C	rs376418550	byFrequency	TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr4:79792085G>C	ENST00000335016.5	+	11	1546	c.1380G>C	c.(1378-1380)caG>caC	p.Q460H	BMP2K_ENST00000502871.1_Missense_Mutation_p.Q460H	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	460	Gln/His-rich.				regulation of bone mineralization (GO:0030500)	nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatase regulator activity (GO:0019208)|protein serine/threonine kinase activity (GO:0004674)	p.Q460H(3)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						ATCCTCACcagcagcagcagc	0.577																																						ENST00000335016.5																			3	Substitution - Missense(3)	p.Q460H(3)	endometrium(2)|prostate(1)	NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						c.(1378-1380)caG>caC		BMP2 inducible kinase							40.0	45.0	44.0					4																	79792085		2203	4300	6503	SO:0001583	missense	55589					nucleus	ATP binding|protein serine/threonine kinase activity	g.chr4:79792085G>C	AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756			18041	protein-coding gene	gene with protein product							Standard	NM_017593		Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900	ENST00000335016.5:c.1380G>C	4.37:g.79792085G>C	ENSP00000334836:p.Gln460His					BMP2K_ENST00000502871.1_Missense_Mutation_p.Q460H	p.Q460H	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN			11	1546	+			460			Gln/His-rich.		O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	Missense_Mutation	SNP	ENST00000335016.5	37	c.1380G>C	CCDS47083.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.089|8.089	0.774118|0.774118	0.16051|0.16051	.|.	.|.	ENSG00000138756|ENSG00000138756	ENST00000502613|ENST00000502871;ENST00000335016;ENST00000264889	.|T;T	.|0.74002	.|0.79;-0.8	5.12|5.12	2.26|2.26	0.28386|0.28386	.|.	.|1.238260	.|0.06146	.|N	.|0.673324	T|T	0.57504|0.57504	0.2058|0.2058	N|N	0.15975|0.15975	0.35|0.35	0.30181|0.30181	N|N	0.800383|0.800383	.|B;B	.|0.06786	.|0.001;0.0	.|B;B	.|0.04013	.|0.001;0.001	T|T	0.51803|0.51803	-0.8659|-0.8659	5|10	.|0.42905	.|T	.|0.14	0.0809|0.0809	5.9141|5.9141	0.19045|0.19045	0.0722:0.2493:0.5501:0.1284|0.0722:0.2493:0.5501:0.1284	.|.	.|460;460	.|Q9NSY1;Q4W5H2	.|BMP2K_HUMAN;.	P|H	153|460;460;474	.|ENSP00000421768:Q460H;ENSP00000334836:Q460H	.|ENSP00000264889:Q474H	A|Q	+|+	1|3	0|2	BMP2K|BMP2K	80011109|80011109	0.996000|0.996000	0.38824|0.38824	0.995000|0.995000	0.50966|0.50966	0.181000|0.181000	0.23173|0.23173	0.092000|0.092000	0.15066|0.15066	0.524000|0.524000	0.28502|0.28502	0.460000|0.460000	0.39030|0.39030	GCA|CAG		0.577	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_017593		4	34	0	0	0	1	0	4	34				
MARCH1	55016	broad.mit.edu	37	4	164466832	164466832	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr4:164466832C>T	ENST00000503008.1	-	7	1463	c.487G>A	c.(487-489)Gta>Ata	p.V163I	MARCH1_ENST00000514618.1_Missense_Mutation_p.V419I|MARCH1_ENST00000339875.5_Missense_Mutation_p.V146I|MARCH1_ENST00000274056.7_Missense_Mutation_p.V163I	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	163					antigen processing and presentation of peptide antigen via MHC class II (GO:0002495)|immune response (GO:0006955)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	ligase activity (GO:0016874)|MHC protein binding (GO:0042287)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				ATCGCGATTACGTGGAATGTG	0.428																																						ENST00000503008.1																			0				endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						c.(487-489)Gta>Ata		membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase							310.0	233.0	259.0					4																	164466832		2203	4300	6503	SO:0001583	missense	55016				antigen processing and presentation of peptide antigen via MHC class II|immune response	cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr4:164466832C>T	AK000675	CCDS3806.1, CCDS54814.1	4q32.2	2013-01-09	2012-02-23			ENSG00000145416		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	26077	protein-coding gene	gene with protein product		613331	"""membrane-associated ring finger (C3HC4) 1"""			14722266	Standard	NM_017923		Approved	FLJ20668, MARCH-I, RNF171	uc003iqs.2	Q8TCQ1		ENST00000503008.1:c.487G>A	4.37:g.164466832C>T	ENSP00000427223:p.Val163Ile					MARCH1_ENST00000514618.1_Missense_Mutation_p.V419I|MARCH1_ENST00000339875.5_Missense_Mutation_p.V146I|MARCH1_ENST00000274056.7_Missense_Mutation_p.V163I	p.V163I	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN			7	1463	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	163					D3DP29|Q9NWR0	Missense_Mutation	SNP	ENST00000503008.1	37	c.487G>A	CCDS54814.1	.	.	.	.	.	.	.	.	.	.	C	12.55	1.971815	0.34754	.	.	ENSG00000145416	ENST00000274056;ENST00000503008;ENST00000514618;ENST00000339875	T;T;T;T	0.30981	1.92;1.92;1.51;1.52	4.91	3.86	0.44501	.	0.093628	0.45606	D	0.000357	T	0.13457	0.0326	N	0.05383	-0.06	0.34620	D	0.718492	B;B	0.12013	0.0;0.005	B;B	0.08055	0.002;0.003	T	0.18023	-1.0350	10	0.17369	T	0.5	-26.7865	8.4707	0.32984	0.0:0.7267:0.0:0.2733	.	163;146	Q8TCQ1;Q8TCQ1-2	MARH1_HUMAN;.	I	163;163;419;146	ENSP00000274056:V163I;ENSP00000427223:V163I;ENSP00000421322:V419I;ENSP00000345676:V146I	ENSP00000274056:V163I	V	-	1	0	MARCH1	164686282	0.055000	0.20627	0.993000	0.49108	0.884000	0.51177	0.048000	0.14078	2.270000	0.75569	0.655000	0.94253	GTA		0.428	MARCH1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364493.2	NM_017923		10	103	0	0	0	1	0	10	103				
ZNF365	22891	broad.mit.edu	37	10	64136451	64136451	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr10:64136451C>T	ENST00000395254.3	+	2	779	c.499C>T	c.(499-501)Cga>Tga	p.R167*	ZNF365_ENST00000466727.1_Intron|ZNF365_ENST00000395255.3_Nonsense_Mutation_p.R167*|ZNF365_ENST00000410046.3_Nonsense_Mutation_p.R167*	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	0										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					AAAATTCAATCGAATGGTTGA	0.512																																						ENST00000395254.3																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(499-501)Cga>Tga		zinc finger protein 365							89.0	90.0	90.0					10																	64136451		2203	4300	6503	SO:0001587	stop_gained	22891							g.chr10:64136451C>T	AB020651	CCDS7264.1, CCDS7265.1, CCDS31209.1, CCDS41531.1	10q21.2	2008-10-28			ENSG00000138311	ENSG00000138311		"""Zinc fingers, C2H2-type"""	18194	protein-coding gene	gene with protein product	"""Talanin"""	607818				10048485, 12740763	Standard	NM_199450		Approved	KIAA0844, UAN	uc001jmc.2	Q70YC4	OTTHUMG00000018302	ENST00000395254.3:c.499C>T	10.37:g.64136451C>T	ENSP00000378674:p.Arg167*					ZNF365_ENST00000466727.1_Intron|ZNF365_ENST00000395255.3_Nonsense_Mutation_p.R167*|ZNF365_ENST00000410046.3_Nonsense_Mutation_p.R167*	p.R167*	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN			2	779	+	Prostate(12;0.0297)|all_hematologic(501;0.228)		0						Nonsense_Mutation	SNP	ENST00000395254.3	37	c.499C>T	CCDS31209.1	.	.	.	.	.	.	.	.	.	.	C	33	5.194520	0.94960	.	.	ENSG00000138311	ENST00000395254;ENST00000395255;ENST00000410046	.	.	.	5.3	5.3	0.74995	.	0.360741	0.26792	N	0.022465	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.7906	0.63138	0.1919:0.8081:0.0:0.0	.	.	.	.	X	167	.	ENSP00000378674:R167X	R	+	1	2	ZNF365	63806457	0.997000	0.39634	0.979000	0.43373	0.429000	0.31625	2.174000	0.42482	2.479000	0.83701	0.555000	0.69702	CGA		0.512	ZNF365-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048238.2	NM_014951		20	62	0	0	0	1	0	20	62				
ZNF507	22847	broad.mit.edu	37	19	32873418	32873418	+	Silent	SNP	G	G	A			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr19:32873418G>A	ENST00000311921.4	+	5	2598	c.2406G>A	c.(2404-2406)aaG>aaA	p.K802K	ZNF507_ENST00000355898.5_Silent_p.K802K|ZNF507_ENST00000544431.1_Silent_p.K806K	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	802					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					CTTCTTTGAAGTCTCATATGT	0.433																																						ENST00000311921.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31						c.(2404-2406)aaG>aaA		zinc finger protein 507							281.0	272.0	275.0					19																	32873418		2203	4300	6503	SO:0001819	synonymous_variant	22847				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:32873418G>A	AB029007	CCDS32985.1	19q13.12	2008-02-05				ENSG00000168813		"""Zinc fingers, C2H2-type"""	23783	protein-coding gene	gene with protein product							Standard	NM_014910		Approved	KIAA1084	uc002ntd.3	Q8TCN5		ENST00000311921.4:c.2406G>A	19.37:g.32873418G>A						ZNF507_ENST00000544431.1_Silent_p.K806K|ZNF507_ENST00000355898.5_Silent_p.K802K	p.K802K	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN			5	2598	+	Esophageal squamous(110;0.162)		802					A8K911|Q2TBF1|Q6MZU0|Q9UPR8	Silent	SNP	ENST00000311921.4	37	c.2406G>A	CCDS32985.1																																																																																				0.433	ZNF507-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450301.3	NM_014910		35	160	0	0	0	1	0	35	160				
ZNF2	7549	broad.mit.edu	37	2	95846874	95846874	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr2:95846874G>T	ENST00000340539.5	+	5	763	c.301G>T	c.(301-303)Gat>Tat	p.D101Y	ZNF2_ENST00000398107.2_Missense_Mutation_p.D59Y|ZNF2_ENST00000295210.6_Missense_Mutation_p.D63Y|ZNF2_ENST00000453539.2_Missense_Mutation_p.D114Y|ZNF2_ENST00000425369.1_Missense_Mutation_p.D21Y	NM_021088.2	NP_066574	Q9BSG1	ZNF2_HUMAN	zinc finger protein 2	101					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	12		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		TGAGATTCACGATGCTTCAGA	0.418																																						ENST00000398107.2																			0				endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	12						c.(175-177)Gat>Tat		zinc finger protein 2							93.0	90.0	91.0					2																	95846874		1869	4116	5985	SO:0001583	missense	7549				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:95846874G>T	X60152	CCDS42712.1, CCDS42713.1, CCDS62957.1	2q11.1	2013-09-24	2005-02-07		ENSG00000163067	ENSG00000275111		"""Zinc fingers, C2H2-type"", ""-"""	12991	protein-coding gene	gene with protein product		194500	"""zinc finger protein 2 (A1-5)"""			8183940, 1945843	Standard	NM_021088		Approved	A1-5, ZNF661, Zfp661	uc002suf.3	Q9BSG1	OTTHUMG00000155150	ENST00000340539.5:c.301G>T	2.37:g.95846874G>T	ENSP00000345392:p.Asp101Tyr					ZNF2_ENST00000340539.5_Missense_Mutation_p.D101Y|ZNF2_ENST00000425369.1_Missense_Mutation_p.D21Y|ZNF2_ENST00000453539.2_Missense_Mutation_p.D114Y|ZNF2_ENST00000295210.6_Missense_Mutation_p.D63Y	p.D59Y	NM_001017396.1	NP_001017396.1	Q9BSG1	ZNF2_HUMAN		READ - Rectum adenocarcinoma(193;0.0222)	4	697	+		Ovarian(717;0.00768)	101			KRAB.		A8MWV7|B4DIR4|Q4ZFY6|Q96G44|Q9UMC5	Missense_Mutation	SNP	ENST00000340539.5	37	c.175G>T	CCDS42712.1	.	.	.	.	.	.	.	.	.	.	G	14.28	2.487543	0.44249	.	.	ENSG00000163067	ENST00000398107;ENST00000340539;ENST00000425369;ENST00000295210;ENST00000453539	T;T;T;T;T	0.06608	3.28;3.45;3.32;3.43;3.43	5.41	1.44	0.22558	.	0.563131	0.16225	N	0.223883	T	0.03348	0.0097	N	0.08118	0	0.09310	N	1	P;P;P	0.50156	0.819;0.932;0.819	B;P;B	0.46299	0.15;0.511;0.414	T	0.33650	-0.9860	10	0.36615	T	0.2	-2.0455	1.2432	0.01967	0.2488:0.1515:0.4434:0.1563	.	63;59;101	B4DIR4;A8MWV7;Q9BSG1	.;.;ZNF2_HUMAN	Y	59;101;21;63;114	ENSP00000381178:D59Y;ENSP00000345392:D101Y;ENSP00000406017:D21Y;ENSP00000295210:D63Y;ENSP00000411051:D114Y	ENSP00000295210:D63Y	D	+	1	0	ZNF2	95210601	0.000000	0.05858	0.001000	0.08648	0.025000	0.11179	0.228000	0.17814	0.080000	0.16959	0.650000	0.86243	GAT		0.418	ZNF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338595.2	NM_021088		18	73	1	0	1.67942e-08	1	1.83936e-08	18	73				
SORT1	6272	broad.mit.edu	37	1	109884667	109884667	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr1:109884667G>T	ENST00000256637.6	-	9	1135	c.1077C>A	c.(1075-1077)gaC>gaA	p.D359E	SORT1_ENST00000538502.1_Missense_Mutation_p.D222E	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	359					endocytosis (GO:0006897)|endosome to lysosome transport (GO:0008333)|endosome transport via multivesicular body sorting pathway (GO:0032509)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose import (GO:0046323)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|myotube differentiation (GO:0014902)|negative regulation of lipoprotein lipase activity (GO:0051005)|nerve growth factor signaling pathway (GO:0038180)|neuropeptide signaling pathway (GO:0007218)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|plasma membrane to endosome transport (GO:0048227)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|vesicle organization (GO:0016050)	cell surface (GO:0009986)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	enzyme binding (GO:0019899)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotensin receptor activity, non-G-protein coupled (GO:0030379)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		TGAATACCATGTCATCATTTG	0.448																																						ENST00000256637.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26						c.(1075-1077)gaC>gaA		sortilin 1							156.0	141.0	146.0					1																	109884667		2203	4300	6503	SO:0001583	missense	6272				endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled	g.chr1:109884667G>T	BC023542	CCDS798.1, CCDS55618.1	1p13.3	2008-05-14			ENSG00000134243	ENSG00000134243			11186	protein-coding gene	gene with protein product		602458					Standard	NM_002959		Approved	Gp95, NT3	uc001dxm.2	Q99523	OTTHUMG00000011999	ENST00000256637.6:c.1077C>A	1.37:g.109884667G>T	ENSP00000256637:p.Asp359Glu					SORT1_ENST00000538502.1_Missense_Mutation_p.D222E	p.D359E	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)	9	1135	-		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	359					B4DWI3|C0JYZ0|Q8IZ49	Missense_Mutation	SNP	ENST00000256637.6	37	c.1077C>A	CCDS798.1	.	.	.	.	.	.	.	.	.	.	g	16.12	3.033282	0.54896	.	.	ENSG00000134243	ENST00000256637;ENST00000538502	T;T	0.23950	1.88;1.88	6.01	5.09	0.68999	VPS10 (1);	0.143283	0.64402	D	0.000008	T	0.10594	0.0259	L	0.33339	1.005	0.51012	D	0.999905	B;B	0.24533	0.001;0.105	B;B	0.16289	0.003;0.015	T	0.03354	-1.1045	10	0.32370	T	0.25	-21.0062	14.5628	0.68153	0.0721:0.0:0.9279:0.0	.	222;359	B4DWI3;Q99523	.;SORT_HUMAN	E	359;222	ENSP00000256637:D359E;ENSP00000438597:D222E	ENSP00000256637:D359E	D	-	3	2	SORT1	109686190	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.539000	0.36104	2.864000	0.98301	0.550000	0.68814	GAC		0.448	SORT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033179.1	NM_002959		24	96	1	0	6.32553e-13	1	7.0397e-13	24	96				
FLG	2312	broad.mit.edu	37	1	152284021	152284021	+	Nonsense_Mutation	SNP	G	G	T			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr1:152284021G>T	ENST00000368799.1	-	3	3376	c.3341C>A	c.(3340-3342)tCa>tAa	p.S1114*	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1114	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAAAGACCCTGAACGTCCAGA	0.587									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(3340-3342)tCa>tAa		filaggrin							257.0	280.0	272.0					1																	152284021		2203	4300	6503	SO:0001587	stop_gained	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152284021G>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.3341C>A	1.37:g.152284021G>T	ENSP00000357789:p.Ser1114*					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.S1114*	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	3376	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1114			Ser-rich.		Q01720|Q5T583|Q9UC71	Nonsense_Mutation	SNP	ENST00000368799.1	37	c.3341C>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	37	6.304660	0.97458	.	.	ENSG00000143631	ENST00000368799;ENST00000392689	.	.	.	2.63	0.545	0.17190	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.5048	0.11881	0.0:0.2499:0.4945:0.2556	.	.	.	.	X	1114;321	.	ENSP00000357789:S1114X	S	-	2	0	FLG	150550645	0.000000	0.05858	0.000000	0.03702	0.059000	0.15707	0.492000	0.22435	-0.077000	0.12752	0.299000	0.19835	TCA		0.587	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		7	427	1	0	0.000274275	1	0.000282462	7	427				
GPR25	2848	broad.mit.edu	37	1	200843200	200843200	+	Silent	SNP	C	C	T			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr1:200843200C>T	ENST00000304244.2	+	1	1118	c.1035C>T	c.(1033-1035)tcC>tcT	p.S345S		NM_005298.2	NP_005289.2	O00155	GPR25_HUMAN	G protein-coupled receptor 25	345					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						ACGACAGTTCCGTGTTCCGTT	0.736																																						ENST00000304244.2																			0				large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						c.(1033-1035)tcC>tcT		G protein-coupled receptor 25							12.0	11.0	11.0					1																	200843200		2169	4244	6413	SO:0001819	synonymous_variant	2848					integral to plasma membrane		g.chr1:200843200C>T	U91939	CCDS1405.1	1q32.1	2012-08-21			ENSG00000170128	ENSG00000170128		"""GPCR / Class A : Orphans"""	4480	protein-coding gene	gene with protein product		602174				9020062	Standard	NM_005298		Approved		uc001gvn.2	O00155	OTTHUMG00000035788	ENST00000304244.2:c.1035C>T	1.37:g.200843200C>T							p.S345S	NM_005298.2	NP_005289.2	O00155	GPR25_HUMAN			1	1118	+			345					A0AVJ5	Silent	SNP	ENST00000304244.2	37	c.1035C>T	CCDS1405.1																																																																																				0.736	GPR25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087056.1	NM_005298		3	9	0	0	0	1	0	3	9				
PPL	5493	broad.mit.edu	37	16	4944525	4944525	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr16:4944525G>A	ENST00000345988.2	-	12	1426	c.1337C>T	c.(1336-1338)cCg>cTg	p.P446L	PPL_ENST00000590782.2_Missense_Mutation_p.P444L	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	446					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						ACACACGGCCGGAGCAATCAG	0.632																																						ENST00000345988.2																			0				breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						c.(1336-1338)cCg>cTg		periplakin							119.0	93.0	102.0					16																	4944525		2197	4300	6497	SO:0001583	missense	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4944525G>A	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.1337C>T	16.37:g.4944525G>A	ENSP00000340510:p.Pro446Leu					PPL_ENST00000590782.2_Missense_Mutation_p.P444L	p.P446L	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN			12	1426	-			446					O60314|O60454|Q14C98	Missense_Mutation	SNP	ENST00000345988.2	37	c.1337C>T	CCDS10526.1	.	.	.	.	.	.	.	.	.	.	G	18.35	3.605145	0.66445	.	.	ENSG00000118898	ENST00000345988	D	0.88586	-2.4	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	D	0.94578	0.8253	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94898	0.8054	10	0.87932	D	0	.	18.8432	0.92192	0.0:0.0:1.0:0.0	.	446	O60437	PEPL_HUMAN	L	446	ENSP00000340510:P446L	ENSP00000340510:P446L	P	-	2	0	PPL	4884526	1.000000	0.71417	0.951000	0.38953	0.011000	0.07611	9.112000	0.94314	2.687000	0.91594	0.462000	0.41574	CCG		0.632	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		4	74	0	0	0	1	0	4	74				
BBOX1	8424	broad.mit.edu	37	11	27077014	27077014	+	Missense_Mutation	SNP	G	G	T	rs200195953		TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr11:27077014G>T	ENST00000529202.1	+	2	376	c.37G>T	c.(37-39)Ggg>Tgg	p.G13W	BBOX1_ENST00000528583.1_Missense_Mutation_p.G13W|RP11-1L12.3_ENST00000526061.1_RNA|BBOX1_ENST00000263182.3_Missense_Mutation_p.G13W|BBOX1_ENST00000527505.1_3'UTR|BBOX1_ENST00000525090.1_Missense_Mutation_p.G13W			O75936	BODG_HUMAN	butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1	13					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	gamma-butyrobetaine dioxygenase activity (GO:0008336)|iron ion binding (GO:0005506)|zinc ion binding (GO:0008270)			breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	AGCACTTGACGGGGCTCATTT	0.478																																						ENST00000263182.3																			0				breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23						c.(37-39)Ggg>Tgg		butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1	Succinic acid(DB00139)|Vitamin C(DB00126)						101.0	95.0	97.0					11																	27077014		2202	4299	6501	SO:0001583	missense	8424				carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr11:27077014G>T	AF082868	CCDS7862.1	11p	2008-02-01			ENSG00000129151	ENSG00000129151	1.14.11.1		964	protein-coding gene	gene with protein product		603312		BBOX		9753662	Standard	XM_005253159		Approved	gamma-BBH, G-BBH, BBH	uc001mre.1	O75936	OTTHUMG00000166121	ENST00000529202.1:c.37G>T	11.37:g.27077014G>T	ENSP00000435781:p.Gly13Trp					BBOX1_ENST00000527505.1_3'UTR|BBOX1_ENST00000528583.1_Missense_Mutation_p.G13W|BBOX1_ENST00000525090.1_Missense_Mutation_p.G13W|RP11-1L12.3_ENST00000526061.1_RNA|BBOX1_ENST00000529202.1_Missense_Mutation_p.G13W	p.G13W	NM_003986.2	NP_003977.1	O75936	BODG_HUMAN			3	405	+			13					B2R8L7|D3DQZ1|Q6IBJ2	Missense_Mutation	SNP	ENST00000529202.1	37	c.37G>T	CCDS7862.1	.	.	.	.	.	.	.	.	.	.	G	12.68	2.010368	0.35511	.	.	ENSG00000129151	ENST00000529202;ENST00000533566;ENST00000263182;ENST00000528583;ENST00000525090	D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72	5.94	4.08	0.47627	.	0.272209	0.41712	D	0.000821	T	0.81297	0.4793	L	0.56769	1.78	0.29153	N	0.878286	P	0.52170	0.951	P	0.48334	0.574	T	0.78084	-0.2342	10	0.66056	D	0.02	.	7.0392	0.25010	0.2529:0.0:0.7471:0.0	.	13	O75936	BODG_HUMAN	W	13	ENSP00000435781:G13W;ENSP00000263182:G13W;ENSP00000434918:G13W;ENSP00000433772:G13W	ENSP00000263182:G13W	G	+	1	0	BBOX1	27033590	0.250000	0.23951	0.892000	0.35008	0.005000	0.04900	1.969000	0.40510	1.516000	0.48900	0.591000	0.81541	GGG		0.478	BBOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387946.1	NM_003986		6	49	1	0	0.00116845	1	0.00118563	6	49				
UGT2B11	10720	broad.mit.edu	37	4	70078323	70078323	+	Missense_Mutation	SNP	A	A	G	rs559723710		TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr4:70078323A>G	ENST00000446444.1	-	2	846	c.838T>C	c.(838-840)Ttc>Ctc	p.F280L	RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	280					estrogen metabolic process (GO:0008210)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						TTGCAGTGGAATCCTCCAACA	0.378																																						ENST00000446444.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(838-840)Ttc>Ctc		UDP glucuronosyltransferase 2 family, polypeptide B11							157.0	165.0	162.0					4																	70078323		2203	4299	6502	SO:0001583	missense	10720				estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70078323A>G	AF016492	CCDS3527.1	4q13.3	2008-02-05	2005-07-20		ENSG00000213759	ENSG00000213759		"""UDP glucuronosyltransferases"""	12545	protein-coding gene	gene with protein product		603064	"""UDP glycosyltransferase 2 family, polypeptide B11"""			9675083	Standard	NM_001073		Approved		uc003heh.3	O75310	OTTHUMG00000129395	ENST00000446444.1:c.838T>C	4.37:g.70078323A>G	ENSP00000387683:p.Phe280Leu					RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA	p.F280L	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN			2	846	-			280					Q3KNV9	Missense_Mutation	SNP	ENST00000446444.1	37	c.838T>C	CCDS3527.1	.	.	.	.	.	.	.	.	.	.	-	0.005	-2.156820	0.00321	.	.	ENSG00000213759	ENST00000446444	T	0.53423	0.62	1.96	1.96	0.26148	.	0.084320	0.47852	N	0.000212	T	0.08980	0.0222	N	0.00131	-2.04	0.18873	N	0.999984	B	0.02656	0.0	B	0.01281	0.0	T	0.40403	-0.9565	10	0.02654	T	1	.	6.5574	0.22468	0.1672:0.0:0.8328:0.0	.	280	O75310	UDB11_HUMAN	L	280	ENSP00000387683:F280L	ENSP00000387683:F280L	F	-	1	0	UGT2B11	70112912	0.994000	0.37717	0.903000	0.35520	0.057000	0.15508	2.107000	0.41844	0.168000	0.19655	-1.160000	0.01791	TTC		0.378	UGT2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251551.2	NM_001073		5	164	0	0	0	1	0	5	164				
LMLN	89782	broad.mit.edu	37	3	197751536	197751536	+	Missense_Mutation	SNP	T	T	A			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr3:197751536T>A	ENST00000330198.4	+	14	1555	c.1533T>A	c.(1531-1533)ttT>ttA	p.F511L	LMLN_ENST00000420910.2_Missense_Mutation_p.F548L|LMLN_ENST00000332636.5_Missense_Mutation_p.F459L|LMLN_ENST00000482695.1_Missense_Mutation_p.F496L	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	511					cell adhesion (GO:0007155)|mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		CAGAAATTTTTAAGAACTATG	0.363																																						ENST00000330198.4																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(1531-1533)ttT>ttA		leishmanolysin-like (metallopeptidase M8 family)							77.0	77.0	77.0					3																	197751536		2203	4300	6503	SO:0001583	missense	89782				cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding	g.chr3:197751536T>A	AJ312398	CCDS3332.1, CCDS46988.1	3q29	2008-02-04			ENSG00000185621	ENSG00000185621	3.4.24.36		15991	protein-coding gene	gene with protein product		609380					Standard	NM_033029		Approved	Gp63, Msp	uc010iar.3	Q96KR4	OTTHUMG00000155375	ENST00000330198.4:c.1533T>A	3.37:g.197751536T>A	ENSP00000328829:p.Phe511Leu					LMLN_ENST00000420910.2_Missense_Mutation_p.F548L|LMLN_ENST00000482695.1_Missense_Mutation_p.F496L|LMLN_ENST00000332636.5_Missense_Mutation_p.F459L	p.F511L	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)	14	1555	+	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	511					B3LDG9|B3LDH0|C9J796|F8WB28|Q96KR5	Missense_Mutation	SNP	ENST00000330198.4	37	c.1533T>A	CCDS3332.1	.	.	.	.	.	.	.	.	.	.	T	4.505	0.093672	0.08632	.	.	ENSG00000185621	ENST00000482695;ENST00000330198;ENST00000420910;ENST00000332636	T;T;T;T	0.40225	1.04;1.04;1.04;1.04	4.95	-0.66	0.11421	.	0.757669	0.13608	N	0.375344	T	0.14830	0.0358	N	0.08118	0	0.23314	N	0.997924	B;B;B;B;B	0.06786	0.0;0.0;0.001;0.0;0.0	B;B;B;B;B	0.06405	0.001;0.002;0.002;0.001;0.0	T	0.20672	-1.0268	10	0.10377	T	0.69	-4.8114	1.4099	0.02289	0.2889:0.092:0.1482:0.4708	.	511;459;548;540;496	Q96KR4;F8WCE5;F8WB28;B4DR62;Q96KR4-2	LMLN_HUMAN;.;.;.;.	L	496;511;548;459	ENSP00000418324:F496L;ENSP00000328829:F511L;ENSP00000410926:F548L;ENSP00000328611:F459L	ENSP00000328829:F511L	F	+	3	2	LMLN	199235933	0.994000	0.37717	0.996000	0.52242	0.462000	0.32619	0.073000	0.14640	-0.002000	0.14469	0.529000	0.55759	TTT		0.363	LMLN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339701.1	NM_033029		16	92	0	0	0	1	0	16	92				
RYR3	6263	broad.mit.edu	37	15	34105144	34105144	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr15:34105144G>T	ENST00000389232.4	+	73	10408	c.10338G>T	c.(10336-10338)aaG>aaT	p.K3446N	RYR3_ENST00000415757.3_Missense_Mutation_p.K3441N	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3446					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ATCCGGAAAAGACAGTGGAGC	0.483																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(10336-10338)aaG>aaT		ryanodine receptor 3							92.0	89.0	90.0					15																	34105144		1917	4128	6045	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34105144G>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.10338G>T	15.37:g.34105144G>T	ENSP00000373884:p.Lys3446Asn					RYR3_ENST00000415757.3_Missense_Mutation_p.K3441N	p.K3446N	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	73	10408	+		all_lung(180;7.18e-09)	3446					O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.10338G>T	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	13.29	2.193657	0.38707	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T	0.66638	-0.22	4.69	4.69	0.59074	.	0.336021	0.29646	N	0.011572	T	0.58395	0.2119	L	0.58510	1.815	0.38438	D	0.946612	P;P	0.41848	0.763;0.615	B;B	0.37144	0.242;0.206	T	0.64037	-0.6501	10	0.44086	T	0.13	.	9.2762	0.37700	0.1308:0.0:0.8692:0.0	.	3441;3446	Q15413-2;Q15413	.;RYR3_HUMAN	N	3446;3446;3441	ENSP00000373884:K3446N	ENSP00000354735:K3441N	K	+	3	2	RYR3	31892436	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	0.699000	0.25586	2.581000	0.87130	0.655000	0.94253	AAG		0.483	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			11	50	1	0	1.58986e-06	1	1.71407e-06	11	50				
UBE2M	9040	broad.mit.edu	37	19	59068489	59068489	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr19:59068489T>C	ENST00000253023.3	-	2	723	c.145A>G	c.(145-147)Atc>Gtc	p.I49V	AC016629.8_ENST00000593642.1_RNA|CHMP2A_ENST00000312547.2_5'Flank|CHMP2A_ENST00000600118.1_5'Flank|AC016629.8_ENST00000600534.1_RNA|AC016629.8_ENST00000600726.1_RNA|CHMP2A_ENST00000601220.1_5'Flank	NM_003969.3	NP_003960.1	P61081	UBC12_HUMAN	ubiquitin-conjugating enzyme E2M	49	Interaction with UBA3.				cellular protein modification process (GO:0006464)|positive regulation of neuron apoptotic process (GO:0043525)|protein neddylation (GO:0045116)|protein ubiquitination (GO:0016567)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|NEDD8 ligase activity (GO:0019788)|ribosomal S6-glutamic acid ligase activity (GO:0018169)|ubiquitin-protein transferase activity (GO:0004842)			large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	5		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		GAGAAGCTGATATCACACGTC	0.532																																						ENST00000253023.3																			0				large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	5						c.(145-147)Atc>Gtc		ubiquitin-conjugating enzyme E2M							189.0	164.0	172.0					19																	59068489		2203	4300	6503	SO:0001583	missense	9040				protein neddylation		ATP binding|NEDD8 ligase activity|protein binding|ribosomal S6-glutamic acid ligase activity|ubiquitin-protein ligase activity	g.chr19:59068489T>C	AB012191	CCDS12987.1	19q13.43	2011-05-19	2011-05-19		ENSG00000130725	ENSG00000130725		"""Ubiquitin-conjugating enzymes E2"""	12491	protein-coding gene	gene with protein product		603173	"""ubiquitin-conjugating enzyme E2M (homologous to yeast UBC12)"", ""ubiquitin-conjugating enzyme E2M (UBC12 homolog, yeast)"""			9694792	Standard	NM_003969		Approved	hUbc12, UBC12	uc002qtl.4	P61081		ENST00000253023.3:c.145A>G	19.37:g.59068489T>C	ENSP00000253023:p.Ile49Val						p.I49V	NM_003969.3	NP_003960.1	P61081	UBC12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)	2	723	-		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	49			Interaction with UBA3.		O76069|Q8VC50	Missense_Mutation	SNP	ENST00000253023.3	37	c.145A>G	CCDS12987.1	.	.	.	.	.	.	.	.	.	.	T	11.15	1.555160	0.27739	.	.	ENSG00000130725	ENST00000253023	T	0.73575	-0.76	4.77	4.77	0.60923	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.088845	0.41500	D	0.000868	T	0.59797	0.2220	N	0.26130	0.795	0.46774	D	0.999191	B	0.02656	0.0	B	0.12156	0.007	T	0.54516	-0.8282	10	0.14656	T	0.56	.	12.5511	0.56227	0.0:0.0:0.0:1.0	.	49	P61081	UBC12_HUMAN	V	49	ENSP00000253023:I49V	ENSP00000253023:I49V	I	-	1	0	UBE2M	63760301	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.953000	0.63624	1.932000	0.55993	0.402000	0.26972	ATC		0.532	UBE2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467097.1	NM_003969		43	119	0	0	0	1	0	43	119				
SLFN11	91607	broad.mit.edu	37	17	33690462	33690462	+	Missense_Mutation	SNP	T	T	A			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr17:33690462T>A	ENST00000394566.1	-	4	637	c.365A>T	c.(364-366)aAg>aTg	p.K122M	SLFN11_ENST00000308377.4_Missense_Mutation_p.K122M	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	122					defense response to virus (GO:0051607)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tRNA binding (GO:0000049)			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AAGGCGGGGCTTGACAGAGCG	0.468																																						ENST00000394566.1																			0				autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50						c.(364-366)aAg>aTg		schlafen family member 11							59.0	57.0	58.0					17																	33690462		2203	4300	6503	SO:0001583	missense	91607					nucleus	ATP binding	g.chr17:33690462T>A	AK074184	CCDS11294.1	17q12	2006-04-05			ENSG00000172716	ENSG00000172716			26633	protein-coding gene	gene with protein product		614953				12477932	Standard	NM_001104587		Approved	FLJ34922	uc010ctr.3	Q7Z7L1	OTTHUMG00000132948	ENST00000394566.1:c.365A>T	17.37:g.33690462T>A	ENSP00000378067:p.Lys122Met					SLFN11_ENST00000308377.4_Missense_Mutation_p.K122M	p.K122M	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	4	637	-		Ovarian(249;0.17)	122					E1P643|Q8N3S8|Q8N762|Q8TEE0	Missense_Mutation	SNP	ENST00000394566.1	37	c.365A>T	CCDS11294.1	.	.	.	.	.	.	.	.	.	.	T	11.98	1.801938	0.31869	.	.	ENSG00000172716	ENST00000308377;ENST00000394566	T;T	0.02258	4.37;4.37	4.03	0.307	0.15811	.	0.831943	0.10058	N	0.721222	T	0.03959	0.0111	M	0.68952	2.095	0.09310	N	1	B	0.32128	0.357	B	0.39419	0.299	T	0.41752	-0.9491	10	0.56958	D	0.05	.	2.699	0.05143	0.1942:0.2271:0.0:0.5787	.	122	Q7Z7L1	SLN11_HUMAN	M	122	ENSP00000312402:K122M;ENSP00000378067:K122M	ENSP00000312402:K122M	K	-	2	0	SLFN11	30714575	0.073000	0.21202	0.199000	0.23439	0.056000	0.15407	0.822000	0.27352	0.168000	0.19655	0.533000	0.62120	AAG		0.468	SLFN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256480.1	NM_152270		8	64	0	0	0	1	0	8	64				
HERC2P2	400322	broad.mit.edu	37	15	23299984	23299984	+	RNA	SNP	G	G	A	rs429570		TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr15:23299984G>A	ENST00000560464.1	-	0	4303									hect domain and RLD 2 pseudogene 2																		TTCCTTCTGGGAAATCCCATC	0.582																																						ENST00000560464.1																			0																																																			400322							g.chr15:23299984G>A	AF041080		15q11.2	2014-03-18			ENSG00000140181				4870	pseudogene	pseudogene						9730612	Standard	NR_002824		Approved	D15F37S3	uc001yvq.2		OTTHUMG00000171926		15.37:g.23299984G>A														0	4303	-									RNA	SNP	ENST00000560464.1	37																																																																																						0.582	HERC2P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415936.1			3	36	0	0	0	1	0	3	36				
RAB3GAP2	25782	broad.mit.edu	37	1	220364615	220364615	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr1:220364615C>T	ENST00000358951.2	-	14	1398	c.1282G>A	c.(1282-1284)Gca>Aca	p.A428T		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	428					establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme activator activity (GO:0008047)|enzyme regulator activity (GO:0030234)|GTPase activator activity (GO:0005096)|protein heterodimerization activity (GO:0046982)|Rab GTPase binding (GO:0017137)	p.A428T(2)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		CCAATTTGTGCGTCGCGGTAC	0.468																																						ENST00000358951.2																			2	Substitution - Missense(2)	p.A428T(2)	large_intestine(1)|endometrium(1)	breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39						c.(1282-1284)Gca>Aca		RAB3 GTPase activating protein subunit 2 (non-catalytic)							42.0	40.0	41.0					1																	220364615		2203	4300	6503	SO:0001583	missense	25782				intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity	g.chr1:220364615C>T	AB020646	CCDS31028.1	1q41	2014-03-03			ENSG00000118873	ENSG00000118873			17168	protein-coding gene	gene with protein product		609275				15696165, 16532399, 24482476	Standard	NM_012414		Approved	RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69	uc010puk.1	Q9H2M9	OTTHUMG00000037139	ENST00000358951.2:c.1282G>A	1.37:g.220364615C>T	ENSP00000351832:p.Ala428Thr						p.A428T	NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN		GBM - Glioblastoma multiforme(131;0.0443)	14	1398	-			428					A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	Missense_Mutation	SNP	ENST00000358951.2	37	c.1282G>A	CCDS31028.1	.	.	.	.	.	.	.	.	.	.	C	19.84	3.901210	0.72754	.	.	ENSG00000118873	ENST00000358951	T	0.72942	-0.7	5.69	4.78	0.61160	.	0.047702	0.85682	N	0.000000	T	0.80259	0.4590	L	0.49778	1.585	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.82275	-0.0538	10	0.87932	D	0	.	14.552	0.68073	0.0:0.9297:0.0:0.0703	.	428	Q9H2M9	RBGPR_HUMAN	T	428	ENSP00000351832:A428T	ENSP00000351832:A428T	A	-	1	0	RAB3GAP2	218431238	1.000000	0.71417	1.000000	0.80357	0.274000	0.26718	7.190000	0.77755	1.420000	0.47138	-0.218000	0.12543	GCA		0.468	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090205.2	NM_012414		6	21	0	0	0	1	0	6	21				
FLCN	201163	broad.mit.edu	37	17	17127338	17127338	+	Silent	SNP	G	G	A			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr17:17127338G>A	ENST00000285071.4	-	6	970	c.516C>T	c.(514-516)atC>atT	p.I172I	FLCN_ENST00000389169.5_Silent_p.I172I|RP11-45M22.4_ENST00000427497.3_Intron	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin	172					cell-cell junction assembly (GO:0007043)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in kidney development (GO:1901723)|negative regulation of energy homeostasis (GO:2000506)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of gene expression (GO:0010629)|negative regulation of mitochondrion organization (GO:0010823)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of gene expression (GO:0010628)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cytokinesis (GO:0032465)|regulation of histone acetylation (GO:0035065)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|regulation of TOR signaling (GO:0032006)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TGATGGTGATGATGCTGTACC	0.582									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome																													ENST00000285071.4																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(514-516)atC>atT		folliculin							71.0	61.0	65.0					17																	17127338		2203	4300	6503	SO:0001819	synonymous_variant	201163	Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome	Familial Cancer Database	Familial Clear Cell Renal Cell Cancer, FcRCC, Familial Non-VHL Non-Papillary Clear Cell Renal Cancer;BHD, Fibrofolliculomas with Trichodiscomas and Acrochordons, incl.: Hornstein-Knickenberg syndrome, Perifollicular Fibromatosis	regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding	g.chr17:17127338G>A	AF517523	CCDS32579.1, CCDS32580.1	17p11.2	2014-09-17			ENSG00000154803	ENSG00000154803			27310	protein-coding gene	gene with protein product		607273					Standard	NM_144997		Approved	BHD, MGC17998, MGC23445	uc002gra.4	Q8NFG4	OTTHUMG00000059275	ENST00000285071.4:c.516C>T	17.37:g.17127338G>A						RP11-45M22.4_ENST00000427497.3_Intron|FLCN_ENST00000389169.5_Silent_p.I172I	p.I172I	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN			6	970	-			172					A6NJJ8|Q6ZRX1|Q96BD2|Q96BE4	Silent	SNP	ENST00000285071.4	37	c.516C>T	CCDS32579.1																																																																																				0.582	FLCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131577.1	NM_144606		26	28	0	0	0	1	0	26	28				
PRSS3P2	154754	broad.mit.edu	37	7	142478865	142478865	+	RNA	SNP	T	T	C			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr7:142478865T>C	ENST00000603901.1	+	0	26					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										ATCCTTGCCTTTGTGGGAGCT	0.567																																						ENST00000603901.1																			0																																																			154754							g.chr7:142478865T>C			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142478865T>C								NR_001296.3						0	26	+									RNA	SNP	ENST00000603901.1	37																																																																																						0.567	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		3	47	0	0	0	1	0	3	47				
MYH1	4619	broad.mit.edu	37	17	10404628	10404628	+	Silent	SNP	G	G	A			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr17:10404628G>A	ENST00000226207.5	-	27	3631	c.3537C>T	c.(3535-3537)cgC>cgT	p.R1179R	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1179					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CCAGGTCCCTGCGCATTTTCT	0.597																																						ENST00000226207.5																			0				NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						c.(3535-3537)cgC>cgT		myosin, heavy chain 1, skeletal muscle, adult							85.0	91.0	89.0					17																	10404628		2203	4300	6503	SO:0001819	synonymous_variant	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10404628G>A		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.3537C>T	17.37:g.10404628G>A						CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	p.R1179R	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN			27	3631	-			1179					Q14CA4|Q9Y622	Silent	SNP	ENST00000226207.5	37	c.3537C>T	CCDS11155.1																																																																																				0.597	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		18	127	0	0	0	1	0	18	127				
ZNF518A	9849	broad.mit.edu	37	10	97916721	97916721	+	RNA	SNP	C	C	T			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr10:97916721C>T	ENST00000534948.1	+	0	1499							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		AGTGTAAGTTCTCCACCCAGG	0.333																																						ENST00000534948.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24								zinc finger protein 518A							170.0	167.0	168.0					10																	97916721		1903	4119	6022			9849				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:97916721C>T	AB002333	CCDS73170.1	10q23.33	2012-08-08	2007-12-07	2007-12-07	ENSG00000177853	ENSG00000177853		"""Zinc fingers, C2H2-type"""	29009	protein-coding gene	gene with protein product			"""zinc finger protein 518"""	ZNF518		9205841	Standard	NM_014803		Approved	KIAA0335	uc001klp.3	Q6AHZ1	OTTHUMG00000018828		10.37:g.97916721C>T										Q6AHZ1	Z518A_HUMAN		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)	0	1499	+		Colorectal(252;0.0815)						A0PJI5|O15044|Q32MP4	RNA	SNP	ENST00000534948.1	37																																																																																						0.333	ZNF518A-202	KNOWN	basic	processed_transcript	processed_transcript		NM_014803		20	128	0	0	0	1	0	20	128				
SLC22A6	9356	broad.mit.edu	37	11	62747261	62747261	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr11:62747261C>T	ENST00000377871.3	-	7	1463	c.1197G>A	c.(1195-1197)atG>atA	p.M399I	SLC22A6_ENST00000537349.1_5'Flank|SLC22A6_ENST00000421062.2_Missense_Mutation_p.M399I|SLC22A6_ENST00000458333.2_Missense_Mutation_p.M399I|SLC22A6_ENST00000360421.4_Missense_Mutation_p.M399I	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	399					alpha-ketoglutarate transport (GO:0015742)|organic anion transport (GO:0015711)|protein homooligomerization (GO:0051260)|renal tubular secretion (GO:0097254)|response to methotrexate (GO:0031427)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride ion binding (GO:0031404)|inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36					Acetaminophen(DB00316)|Acetazolamide(DB00819)|Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Aminohippurate(DB00345)|Aminophenazone(DB01424)|Amoxicillin(DB01060)|Antipyrine(DB01435)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bromodiphenhydramine(DB01237)|Bumetanide(DB00887)|Captopril(DB01197)|Carbenicillin(DB00578)|Carprofen(DB00821)|Caspofungin(DB00520)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cefotiam(DB00229)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Chloramphenicol(DB00446)|Chlorothiazide(DB00880)|Chlorpropamide(DB00672)|Cidofovir(DB00369)|Cilastatin(DB01597)|Cimetidine(DB00501)|Cinoxacin(DB00827)|Cloxacillin(DB01147)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Cyclothiazide(DB00606)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Didanosine(DB00900)|Diflunisal(DB00861)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Fluorescein(DB00693)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Foscarnet(DB00529)|Furosemide(DB00695)|Ganciclovir(DB01004)|Gentamicin(DB00798)|Glyburide(DB01016)|Hydrochlorothiazide(DB00999)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Losartan(DB00678)|Meclofenamic acid(DB00939)|Methazolamide(DB00703)|Methotrexate(DB00563)|Minocycline(DB01017)|Nafcillin(DB00607)|Nalidixic Acid(DB00779)|Naproxen(DB00788)|Nateglinide(DB00731)|Norfloxacin(DB01059)|Novobiocin(DB01051)|Ofloxacin(DB01165)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piperacillin(DB00319)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Riboflavin(DB00140)|Salicylic acid(DB00936)|Stavudine(DB00649)|Streptomycin(DB01082)|Sulindac(DB00605)|Tenofovir(DB00300)|Tetracycline(DB00759)|Tolbutamide(DB01124)|Tolmetin(DB00500)|Trifluridine(DB00432)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Vancomycin(DB00512)|Zalcitabine(DB00943)|Zidovudine(DB00495)	GCAGTGCAGCCATCTGGGCAG	0.612																																						ENST00000377871.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(1195-1197)atG>atA		solute carrier family 22 (organic anion transporter), member 6							49.0	48.0	49.0					11																	62747261		2201	4298	6499	SO:0001583	missense	9356				alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding	g.chr11:62747261C>T	AF057039	CCDS8041.1, CCDS31591.1, CCDS44631.1, CCDS44632.1	11q12.3	2013-07-15			ENSG00000197901	ENSG00000197901		"""Solute carriers"""	10970	protein-coding gene	gene with protein product		607582				9762842, 9950961	Standard	NM_004790		Approved	ROAT1, PAHT, OAT1	uc001nwk.3	Q4U2R8	OTTHUMG00000167767	ENST00000377871.3:c.1197G>A	11.37:g.62747261C>T	ENSP00000367102:p.Met399Ile					SLC22A6_ENST00000421062.2_Missense_Mutation_p.M399I|SLC22A6_ENST00000360421.4_Missense_Mutation_p.M399I|SLC22A6_ENST00000458333.2_Missense_Mutation_p.M399I	p.M399I	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN			7	1463	-			399					A8MY93|B2D0R6|O95187|O95742|Q7LDA0|Q8N192|Q9NQA6|Q9NQC2|Q9UBG6|Q9UEQ8	Missense_Mutation	SNP	ENST00000377871.3	37	c.1197G>A	CCDS31591.1	.	.	.	.	.	.	.	.	.	.	C	11.46	1.644878	0.29246	.	.	ENSG00000197901	ENST00000360421;ENST00000394651;ENST00000377871;ENST00000458333;ENST00000421062	T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63	4.49	2.56	0.30785	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.676359	0.16532	N	0.210310	T	0.45577	0.1349	N	0.10916	0.065	0.25111	N	0.990714	B;B;B;B	0.10296	0.003;0.003;0.002;0.003	B;B;B;B	0.16722	0.004;0.004;0.016;0.009	T	0.26538	-1.0100	10	0.37606	T	0.19	.	2.8877	0.05667	0.1871:0.5311:0.1816:0.1002	.	399;399;399;399	Q4U2R8-4;Q4U2R8-3;Q4U2R8;Q4U2R8-2	.;.;S22A6_HUMAN;.	I	399;378;399;399;399	ENSP00000353597:M399I;ENSP00000367102:M399I;ENSP00000396401:M399I;ENSP00000404441:M399I	ENSP00000353597:M399I	M	-	3	0	SLC22A6	62503837	0.000000	0.05858	0.995000	0.50966	0.986000	0.74619	-0.551000	0.06027	0.474000	0.27392	0.511000	0.50034	ATG		0.612	SLC22A6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396186.1	NM_004790		5	67	0	0	0	1	0	5	67				
MT-CO1	4512	broad.mit.edu	37	M	6559	6559	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chrM:6559T>C	ENST00000361624.2	+	1	656	c.656T>C	c.(655-657)tTc>tCc	p.F219S	MT-ATP6_ENST00000361899.2_5'Flank|MT-TW_ENST00000387382.1_RNA|MT-CO2_ENST00000361739.1_5'Flank|MT-TQ_ENST00000387372.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-TC_ENST00000387405.1_RNA|MT-ATP8_ENST00000361851.1_5'Flank|MT-CO3_ENST00000362079.2_5'Flank|MT-TM_ENST00000387377.1_RNA|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-TI_ENST00000387365.1_RNA			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I	219					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						CAACACCACCTTCTTCGACCC	0.498																																						ENST00000361624.2																			0				breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						c.(655-657)tTc>tCc		mitochondrially encoded cytochrome c oxidase I																																				SO:0001583	missense	4512							g.chrM:6559T>C			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395		ENST00000361624.2:c.656T>C	M.37:g.6559T>C	ENSP00000354499:p.Phe219Ser						p.219_219insS							1	656	+								Q34770	Missense_Mutation	SNP	ENST00000361624.2	37	c.656T>C																																																																																					0.498	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024028		11	1	0	0	0	1	0	11	1				
METTL5	29081	broad.mit.edu	37	2	170672002	170672002	+	Missense_Mutation	SNP	T	T	C	rs368389812		TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr2:170672002T>C	ENST00000260953.5	-	5	842	c.526A>G	c.(526-528)Ata>Gta	p.I176V	METTL5_ENST00000308099.3_Intron|METTL5_ENST00000410097.1_Missense_Mutation_p.I176V|U3_ENST00000517172.1_RNA|METTL5_ENST00000409340.1_Missense_Mutation_p.I77V|METTL5_ENST00000409965.1_Missense_Mutation_p.I176V|METTL5_ENST00000409837.1_Missense_Mutation_p.I176V|METTL5_ENST00000392640.2_Missense_Mutation_p.I176V	NM_014168.2	NP_054887.2	Q9NRN9	METL5_HUMAN	methyltransferase like 5	176							methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)			breast(2)|central_nervous_system(1)|large_intestine(5)|lung(1)|prostate(1)	10						ATAATATCTATCTTGATTTTC	0.308																																						ENST00000410097.1																			0				breast(2)|central_nervous_system(1)|large_intestine(5)|lung(1)|prostate(1)	10						c.(526-528)Ata>Gta		methyltransferase like 5		T	VAL/ILE	0,4404		0,0,2202	124.0	115.0	118.0		526	5.4	1.0	2		118	1,8599	1.2+/-3.3	0,1,4299	no	missense	METTL5	NM_014168.2	29	0,1,6501	CC,CT,TT		0.0116,0.0,0.0077	benign	176/210	170672002	1,13003	2202	4300	6502	SO:0001583	missense	29081						methyltransferase activity|nucleic acid binding	g.chr2:170672002T>C	AF201938	CCDS33320.1	2q31.1	2011-01-28			ENSG00000138382	ENSG00000138382			25006	protein-coding gene	gene with protein product						11042152	Standard	XM_005246478		Approved	HSPC133	uc002ufn.3	Q9NRN9	OTTHUMG00000154117	ENST00000260953.5:c.526A>G	2.37:g.170672002T>C	ENSP00000260953:p.Ile176Val					METTL5_ENST00000409340.1_Missense_Mutation_p.I77V|METTL5_ENST00000308099.3_Intron|METTL5_ENST00000260953.5_Missense_Mutation_p.I176V|METTL5_ENST00000392640.2_Missense_Mutation_p.I176V|METTL5_ENST00000409965.1_Missense_Mutation_p.I176V|METTL5_ENST00000409837.1_Missense_Mutation_p.I176V	p.I176V			Q9NRN9	METL5_HUMAN			6	661	-			176					D3DPC9|Q9NVX1	Missense_Mutation	SNP	ENST00000260953.5	37	c.526A>G	CCDS33320.1	.	.	.	.	.	.	.	.	.	.	T	14.01	2.408610	0.42715	0.0	1.16E-4	ENSG00000138382	ENST00000409837;ENST00000409340;ENST00000260953;ENST00000409965;ENST00000392640;ENST00000410097	T;T;T;T	0.41065	1.01;1.03;1.03;1.03	5.42	5.42	0.78866	.	0.120341	0.85682	D	0.000000	T	0.28632	0.0709	N	0.21097	0.63	0.37340	D	0.910336	B;B	0.15473	0.013;0.001	B;B	0.09377	0.004;0.002	T	0.18209	-1.0344	10	0.10377	T	0.69	-22.0662	15.4116	0.74929	0.0:0.0:0.0:1.0	.	176;176	B8ZZC8;Q9NRN9	.;METL5_HUMAN	V	176;77;176;176;176;176	ENSP00000387106:I77V;ENSP00000260953:I176V;ENSP00000386582:I176V;ENSP00000376415:I176V	ENSP00000260953:I176V	I	-	1	0	METTL5	170380248	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.481000	0.81124	2.180000	0.69256	0.459000	0.35465	ATA		0.308	METTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333957.1	NM_014168		6	31	0	0	0	1	0	6	31				
MTMR10	54893	broad.mit.edu	37	15	31233736	31233736	+	Missense_Mutation	SNP	T	T	A			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr15:31233736T>A	ENST00000435680.1	-	16	2368	c.2271A>T	c.(2269-2271)ttA>ttT	p.L757F	FAN1_ENST00000362065.4_Intron|MTMR10_ENST00000314404.8_Intron|MTMR10_ENST00000425768.1_3'UTR	NM_017762.2	NP_060232.2	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	757							phosphatase activity (GO:0016791)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)		AAAATTTGCTTAATGGTGTTC	0.433																																						ENST00000435680.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	9						c.(2269-2271)ttA>ttT		myotubularin related protein 10							40.0	34.0	36.0					15																	31233736		1854	4105	5959	SO:0001583	missense	54893						phosphatase activity	g.chr15:31233736T>A	AK000320	CCDS45204.1	15q13.3	2011-06-09				ENSG00000166912		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	25999	protein-coding gene	gene with protein product						12495846	Standard	NM_017762		Approved	FLJ20313	uc001zfh.1	Q9NXD2		ENST00000435680.1:c.2271A>T	15.37:g.31233736T>A	ENSP00000402537:p.Leu757Phe					FAN1_ENST00000362065.4_Intron|MTMR10_ENST00000425768.1_3'UTR|MTMR10_ENST00000314404.8_Intron	p.L757F	NM_017762.2	NP_060232.2	Q9NXD2	MTMRA_HUMAN		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)	16	2368	-		all_lung(180;2.81e-11)	757					Q6P4Q6	Missense_Mutation	SNP	ENST00000435680.1	37	c.2271A>T	CCDS45204.1	.	.	.	.	.	.	.	.	.	.	T	13.72	2.319952	0.41096	.	.	ENSG00000166912	ENST00000435680	D	0.97089	-4.24	5.48	0.194	0.15143	.	.	.	.	.	D	0.91895	0.7434	L	0.27053	0.805	0.80722	D	1	B	0.14012	0.009	B	0.09377	0.004	T	0.82604	-0.0375	9	0.51188	T	0.08	.	6.4211	0.21744	0.0:0.2471:0.1174:0.6355	.	757	Q9NXD2	MTMRA_HUMAN	F	757	ENSP00000402537:L757F	ENSP00000402537:L757F	L	-	3	2	MTMR10	29021028	0.957000	0.32711	0.302000	0.25058	0.995000	0.86356	0.044000	0.13992	-0.217000	0.10033	0.533000	0.62120	TTA		0.433	MTMR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430747.1	NM_017762		6	10	0	0	0	1	0	6	10				
DVL1	1855	broad.mit.edu	37	1	1275150	1275150	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr1:1275150C>T	ENST00000378888.5	-	9	1236	c.952G>A	c.(952-954)Gtg>Atg	p.V318M	DVL1_ENST00000378891.5_Missense_Mutation_p.V318M			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	318	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|collateral sprouting (GO:0048668)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|cytoplasmic microtubule organization (GO:0031122)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|negative regulation of protein binding (GO:0032091)|negative regulation of protein kinase activity (GO:0006469)|neural tube development (GO:0021915)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|prepulse inhibition (GO:0060134)|protein localization to microtubule (GO:0035372)|protein localization to nucleus (GO:0034504)|receptor clustering (GO:0043113)|regulation of neurotransmitter levels (GO:0001505)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|social behavior (GO:0035176)|synapse organization (GO:0050808)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	axon (GO:0030424)|cell cortex (GO:0005938)|clathrin-coated vesicle (GO:0030136)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|growth cone (GO:0030426)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	enzyme binding (GO:0019899)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|Rac GTPase binding (GO:0048365)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		AGCACCCGCACGGCATCGTCA	0.657																																						ENST00000378888.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13						c.(952-954)Gtg>Atg		dishevelled segment polarity protein 1							78.0	74.0	75.0					1																	1275150		2202	4300	6502	SO:0001583	missense	1855				canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity	g.chr1:1275150C>T	AF006011	CCDS22.1	1p36	2013-05-22	2013-05-22		ENSG00000107404	ENSG00000107404		"""Dishevelled homologs"""	3084	protein-coding gene	gene with protein product		601365	"""dishevelled 1 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 1 (Drosophila)"""			8817329	Standard	NM_004421		Approved		uc001aer.4	O14640	OTTHUMG00000003069	ENST00000378888.5:c.952G>A	1.37:g.1275150C>T	ENSP00000368166:p.Val318Met					DVL1_ENST00000378891.5_Missense_Mutation_p.V318M	p.V318M			O14640	DVL1_HUMAN		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	9	1236	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	318			PDZ.		Q5TA33|Q5TA35	Missense_Mutation	SNP	ENST00000378888.5	37	c.952G>A		.	.	.	.	.	.	.	.	.	.	C	18.73	3.685941	0.68157	.	.	ENSG00000107404	ENST00000378891;ENST00000378888	T;T	0.36520	1.25;1.25	3.19	3.19	0.36642	PDZ/DHR/GLGF (4);	0.069454	0.56097	D	0.000024	T	0.63757	0.2538	M	0.87097	2.86	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.951;0.994	T	0.73861	-0.3849	10	0.87932	D	0	.	14.9433	0.71012	0.0:1.0:0.0:0.0	.	318;318	O14640;O14640-2	DVL1_HUMAN;.	M	318	ENSP00000368169:V318M;ENSP00000368166:V318M	ENSP00000368166:V318M	V	-	1	0	DVL1	1265013	1.000000	0.71417	0.837000	0.33122	0.603000	0.37013	5.683000	0.68189	1.790000	0.52503	0.456000	0.33151	GTG		0.657	DVL1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000008490.1	NM_004421		11	42	0	0	0	1	0	11	42				
OR1J1	347168	broad.mit.edu	37	9	125239841	125239841	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr9:125239841C>T	ENST00000259357.2	-	1	394	c.365G>A	c.(364-366)aGg>aAg	p.R122K	RP11-542K23.9_ENST00000412262.2_RNA	NM_001004451.1	NP_001004451.1	Q8NGS3	OR1J1_HUMAN	olfactory receptor, family 1, subfamily J, member 1	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						GGCCACATACCTGTCATATGC	0.453																																						ENST00000259357.2																			0				endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(364-366)aGg>aAg		olfactory receptor, family 1, subfamily J, member 1							88.0	79.0	82.0					9																	125239841		2203	4300	6503	SO:0001583	missense	347168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125239841C>T	AL353767	CCDS35120.1	9q33.2	2013-09-20			ENSG00000136834	ENSG00000136834		"""GPCR / Class A : Olfactory receptors"""	8208	protein-coding gene	gene with protein product							Standard	NM_001004451		Approved	hg32	uc011lyu.2	Q8NGS3	OTTHUMG00000020603	ENST00000259357.2:c.365G>A	9.37:g.125239841C>T	ENSP00000259357:p.Arg122Lys						p.R122K	NM_001004451.1	NP_001004451.1	Q8NGS3	OR1J1_HUMAN			1	394	-			122					A3KFL8|Q6IF10|Q96R88	Missense_Mutation	SNP	ENST00000259357.2	37	c.365G>A	CCDS35120.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.649249	0.87958	.	.	ENSG00000136834	ENST00000259357	T	0.76968	-1.06	4.46	4.46	0.54185	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000012	D	0.93442	0.7908	H	0.99464	4.58	0.35683	D	0.814234	D	0.89917	1.0	D	0.87578	0.998	D	0.98614	1.0664	10	0.87932	D	0	.	16.4771	0.84135	0.0:1.0:0.0:0.0	.	122	Q8NGS3	OR1J1_HUMAN	K	122	ENSP00000259357:R122K	ENSP00000259357:R122K	R	-	2	0	OR1J1	124279662	0.958000	0.32768	0.998000	0.56505	0.869000	0.49853	4.706000	0.61845	2.498000	0.84270	0.531000	0.56144	AGG		0.453	OR1J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053931.1			4	69	0	0	0	1	0	4	69				
IGF2R	3482	broad.mit.edu	37	6	160481709	160481709	+	Silent	SNP	G	G	T			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr6:160481709G>T	ENST00000356956.1	+	23	3370	c.3222G>T	c.(3220-3222)gcG>gcT	p.A1074A		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1074					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	TTGAAACCGCGTTGGCCTGTG	0.517																																						ENST00000356956.1																			0				breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(3220-3222)gcG>gcT		insulin-like growth factor 2 receptor							136.0	122.0	127.0					6																	160481709		2203	4300	6503	SO:0001819	synonymous_variant	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160481709G>T	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.3222G>T	6.37:g.160481709G>T							p.A1074A	NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	23	3370	+		Breast(66;0.000777)|Ovarian(120;0.0305)	1074					Q7Z7G9|Q96PT5	Silent	SNP	ENST00000356956.1	37	c.3222G>T	CCDS5273.1																																																																																				0.517	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		28	73	1	0	1.88708e-17	1	2.24498e-17	28	73				
DOCK1	1793	broad.mit.edu	37	10	128822972	128822972	+	Silent	SNP	T	T	C			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr10:128822972T>C	ENST00000280333.6	+	15	1522	c.1413T>C	c.(1411-1413)ggT>ggC	p.G471G	RP11-223P11.3_ENST00000608350.1_RNA|RP11-223P11.3_ENST00000601242.1_RNA|RP11-223P11.2_ENST00000420941.2_RNA|RP11-223P11.3_ENST00000594559.1_RNA|RP11-223P11.3_ENST00000594614.1_RNA|RP11-223P11.3_ENST00000601826.1_RNA|RP11-223P11.3_ENST00000599979.1_RNA|RP11-223P11.3_ENST00000432554.2_RNA|RP11-223P11.3_ENST00000595456.1_RNA	NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	471	DHR-1.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		CGGGTGCTGGTGATGAAGCGA	0.393																																						ENST00000280333.6																			0				NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72						c.(1411-1413)ggT>ggC		dedicator of cytokinesis 1							93.0	91.0	92.0					10																	128822972		1940	4139	6079	SO:0001819	synonymous_variant	1793				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr10:128822972T>C	D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.1413T>C	10.37:g.128822972T>C						RP11-223P11.2_ENST00000420941.2_RNA|RP11-223P11.3_ENST00000595456.1_RNA|RP11-223P11.3_ENST00000599979.1_RNA|RP11-223P11.3_ENST00000594614.1_RNA|RP11-223P11.3_ENST00000594559.1_RNA|RP11-223P11.3_ENST00000601826.1_RNA|RP11-223P11.3_ENST00000601242.1_RNA	p.G471G	NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)	15	1522	+		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)	471			DHR-1.		A9Z1Z5	Silent	SNP	ENST00000280333.6	37	c.1413T>C																																																																																					0.393	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	NM_001380		4	14	0	0	0	1	0	4	14				
PCSK9	255738	broad.mit.edu	37	1	55505553	55505555	+	In_Frame_Del	DEL	CTG	CTG	-	rs67610340		TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr1:55505553_55505555delCTG	ENST00000302118.5	+	1	333_335	c.43_45delCTG	c.(43-45)ctgdel	p.L23del	PCSK9_ENST00000452118.2_In_Frame_Del_p.L23del|PCSK9_ENST00000543384.1_5'Flank	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	23			L -> LL (this polymoprhism seems to have a modifier effect on LDLR mutation and familial hypercholesterolemia). {ECO:0000269|PubMed:19319977, ECO:0000269|PubMed:22095935, ECO:0000269|Ref.4, ECO:0000269|Ref.5}.		apoptotic process (GO:0006915)|cellular response to insulin stimulus (GO:0032869)|cellular response to starvation (GO:0009267)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|kidney development (GO:0001822)|lipoprotein metabolic process (GO:0042157)|liver development (GO:0001889)|low-density lipoprotein particle receptor catabolic process (GO:0032802)|lysosomal transport (GO:0007041)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of receptor recycling (GO:0001920)|neurogenesis (GO:0022008)|neuron differentiation (GO:0030182)|phospholipid metabolic process (GO:0006644)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of receptor internalization (GO:0002092)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)|regulation of neuron apoptotic process (GO:0043523)|regulation of receptor activity (GO:0010469)|triglyceride metabolic process (GO:0006641)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	apolipoprotein binding (GO:0034185)|apolipoprotein receptor binding (GO:0034190)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein particle receptor binding (GO:0050750)|poly(A) RNA binding (GO:0044822)|protein self-association (GO:0043621)|serine-type endopeptidase activity (GO:0004252)|sodium channel inhibitor activity (GO:0019871)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.P14_L15insL(2)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						gccgctgccactgctgctgctgc	0.709																																					Pancreas(137;1454 1827 5886 22361 42375)	ENST00000302118.5																			2	Insertion - In frame(2)	p.P14_L15insL(2)	breast(1)|central_nervous_system(1)	NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						c.(43-45)del		proprotein convertase subtilisin/kexin type 9				61,2,537,84,3012		19,0,2,0,21,1,0,0,0,105,6,319,10,58,1307						0.2	0.0		dbSNP_130	10	61,21,797,190,6069		12,0,0,1,36,3,4,0,11,129,6,529,19,145,2674	no	codingComplex	PCSK9	NM_174936.3		31,0,2,1,57,4,4,0,11,234,12,848,29,203,3981	A1A1,A1A2,A1A3,A1A4,A1R,A2A2,A2A3,A2A4,A2R,A3A3,A3A4,A3R,A4A4,A4R,RR		14.9762,18.5065,16.1805				122,23,1334,274,9081				SO:0001651	inframe_deletion	255738				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding	g.chr1:55505553_55505555delCTG	AX207686	CCDS603.1	1p34.1-p32	2014-09-17	2003-05-13		ENSG00000169174	ENSG00000169174			20001	protein-coding gene	gene with protein product		607786	"""hypercholesterolemia, autosomal dominant 3"""	HCHOLA3		12552133, 12730697	Standard	NM_174936		Approved	NARC-1, FH3	uc001cyf.2	Q8NBP7	OTTHUMG00000008136	ENST00000302118.5:c.43_45delCTG	1.37:g.55505562_55505564delCTG	ENSP00000303208:p.Leu23del					PCSK9_ENST00000452118.2_In_Frame_Del_p.L23del	p.L23del	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN			1	333_335	+			23		L -> LL (this polymoprhism seems to have a modifier effect on LDLR mutation and familial hypercholesterolemia).			A8T640|C0JYY9|Q5PSM5|Q5SZQ2	In_Frame_Del	DEL	ENST00000302118.5	37	c.43_45delCTG	CCDS603.1																																																																																				0.709	PCSK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022280.1	NM_174936		3	6						3	6	---	---	---	---
PDZD2	23037	broad.mit.edu	37	5	31983584	31983585	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr5:31983584_31983585delAA	ENST00000438447.1	+	3	1188_1189	c.800_801delAA	c.(799-801)gaafs	p.E267fs	PDZD2_ENST00000282493.3_Frame_Shift_Del_p.E267fs			O15018	PDZD2_HUMAN	PDZ domain containing 2	267					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TTTCAGCTAGAAAATGGCCCAG	0.554																																						ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(799-801)gfs		PDZ domain containing 2																																				SO:0001589	frameshift_variant	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:31983584_31983585delAA	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.800_801delAA	5.37:g.31983586_31983587delAA	ENSP00000402033:p.Glu267fs					PDZD2_ENST00000282493.3_Frame_Shift_Del_p.E267fs	p.E267fs			O15018	PDZD2_HUMAN			3	1188_1189	+			267					Q9BXD4	Frame_Shift_Del	DEL	ENST00000438447.1	37	c.800_801delAA	CCDS34137.1																																																																																				0.554	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			53	185						53	185	---	---	---	---
PTPRD	5789	broad.mit.edu	37	9	8499758	8499758	+	Frame_Shift_Del	DEL	G	G	-			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr9:8499758delG	ENST00000381196.4	-	22	2754	c.2211delC	c.(2209-2211)cccfs	p.P737fs	PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000540109.1_Frame_Shift_Del_p.P737fs|PTPRD_ENST00000356435.5_Frame_Shift_Del_p.P737fs|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000360074.4_Frame_Shift_Del_p.P724fs|PTPRD_ENST00000358503.5_Frame_Shift_Del_p.P724fs|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000486161.1_Intron	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	737	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GCTGTTTATTGGGCACGGGTG	0.502										TSP Lung(15;0.13)																												ENST00000381196.4																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(2209-2211)ccfs		protein tyrosine phosphatase, receptor type, D							174.0	152.0	159.0					9																	8499758		2203	4300	6503	SO:0001589	frameshift_variant	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8499758delG	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.2211delC	9.37:g.8499758delG	ENSP00000370593:p.Pro737fs	TSP Lung(15;0.13)				PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000360074.4_Frame_Shift_Del_p.P724fs|PTPRD_ENST00000540109.1_Frame_Shift_Del_p.P737fs|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000358503.5_Frame_Shift_Del_p.P724fs|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000356435.5_Frame_Shift_Del_p.P737fs|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000397617.3_Intron	p.P737fs	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	22	2754	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	737			Fibronectin type-III 5.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Frame_Shift_Del	DEL	ENST00000381196.4	37	c.2211delC	CCDS43786.1																																																																																				0.502	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			50	64						50	64	---	---	---	---
FKBP15	23307	broad.mit.edu	37	9	115932150	115932151	+	In_Frame_Ins	INS	-	-	TTC	rs370557763|rs113480096|rs62620695	byFrequency	TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr9:115932150_115932151insTTC	ENST00000238256.3	-	26	2955_2956	c.2838_2839insGAA	c.(2836-2841)gaaaaa>gaaGAAaaa	p.946_947insE		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	946					endocytosis (GO:0006897)|negative regulation of phosphatase activity (GO:0010923)|protein folding (GO:0006457)	actin filament (GO:0005884)|axon (GO:0030424)|endosome (GO:0005768)|growth cone (GO:0030426)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						tcttctgctttttcttcttctt	0.525																																						ENST00000238256.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						c.(2836-2841)gaaagc>gaGAAaagc		FK506 binding protein 15, 133kDa																																				SO:0001652	inframe_insertion	23307				endocytosis|protein folding	axon|early endosome	actin binding	g.chr9:115932150_115932151insTTC	AB014574	CCDS48007.1	9q33.1	2014-05-09	2006-10-31	2006-10-31	ENSG00000119321	ENSG00000119321		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	23397	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 76"", ""WASP and FKBP-like protein"""		"""KIAA0674"""	KIAA0674		16756961, 20376207	Standard	NM_015258		Approved	PPP1R76, FKBP133, WAFL	uc004bgs.2	Q5T1M5	OTTHUMG00000020518	ENST00000238256.3:c.2836_2838dupGAA	9.37:g.115932157_115932159dupTTC	ENSP00000238256:p.Glu946_Glu946dup						p.946_947ES>EKS	NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN			26	2955_2956	-			946					Q05DK8|Q5T1M2|Q6DD85|Q9Y4D0	In_Frame_Ins	INS	ENST00000238256.3	37	c.2838_2839insGAA	CCDS48007.1																																																																																				0.525	FKBP15-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015258		5	4						5	4	---	---	---	---
ACACB	32	broad.mit.edu	37	12	109604671	109604671	+	Frame_Shift_Del	DEL	G	G	-			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr12:109604671delG	ENST00000338432.7	+	3	778	c.659delG	c.(658-660)agcfs	p.S220fs	ACACB_ENST00000377848.3_Frame_Shift_Del_p.S220fs|ACACB_ENST00000377854.5_Frame_Shift_Del_p.S220fs			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	220					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	TGCAGGCCGAGCATGTCGGGA	0.572																																						ENST00000338432.7																			0				NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(658-660)acfs		acetyl-CoA carboxylase beta	Biotin(DB00121)						68.0	63.0	65.0					12																	109604671		2203	4300	6503	SO:0001589	frameshift_variant	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109604671delG	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.659delG	12.37:g.109604671delG	ENSP00000341044:p.Ser220fs					ACACB_ENST00000377854.5_Frame_Shift_Del_p.S220fs|ACACB_ENST00000377848.3_Frame_Shift_Del_p.S220fs	p.S220fs			O00763	ACACB_HUMAN			3	778	+			220					A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Frame_Shift_Del	DEL	ENST00000338432.7	37	c.659delG	CCDS31898.1																																																																																				0.572	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		25	34						25	34	---	---	---	---
DYNLL1	8655	broad.mit.edu	37	12	120934360	120934361	+	Intron	INS	-	-	G			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr12:120934360_120934361insG	ENST00000392509.2	+	2	393				DYNLL1_ENST00000550178.1_Frame_Shift_Ins_p.R46fs|DYNLL1_ENST00000552870.1_Intron|DYNLL1_ENST00000550845.1_Frame_Shift_Ins_p.R46fs|DYNLL1_ENST00000548342.1_Intron|DYNLL1_ENST00000242577.6_Intron|DYNLL1_ENST00000392508.2_Intron|DYNLL1-AS1_ENST00000500741.2_RNA|DYNLL1_ENST00000549989.1_Intron|DYNLL1_ENST00000548214.1_Frame_Shift_Ins_p.R46fs	NM_001037494.1	NP_001032583.1	P63167	DYL1_HUMAN	dynein, light chain, LC8-type 1						actin cytoskeleton organization (GO:0030036)|anatomical structure morphogenesis (GO:0009653)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|apoptotic process (GO:0006915)|female gamete generation (GO:0007292)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|regulation of transcription, DNA-templated (GO:0006355)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	motor activity (GO:0003774)|nitric-oxide synthase regulator activity (GO:0030235)					all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAAGAAGGTGAGGATGGGCGCG	0.599																																						ENST00000550845.1																			0											c.(136-138)gatfs		dynein, light chain, LC8-type 1																																				SO:0001627	intron_variant	8655				actin cytoskeleton organization|activation of pro-apoptotic gene products|anatomical structure morphogenesis|female gamete generation|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|microtubule-based process|negative regulation of phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	centrosome|cytoplasmic dynein complex|cytosol|microtubule|mitochondrion|nucleus|plasma membrane	motor activity|protein binding	g.chr12:120934360_120934361insG	U32944	CCDS9200.1	12q24.23	2013-05-30	2005-11-25	2005-11-25	ENSG00000088986	ENSG00000088986		"""Cytoplasmic dyneins"""	15476	protein-coding gene	gene with protein product		601562	"""dynein, cytoplasmic, light polypeptide 1"""	DNCL1		8628263, 8864115, 16260502	Standard	NM_001037494		Approved	hdlc1, DLC1, PIN, LC8, DLC8	uc001tym.3	P63167	OTTHUMG00000169368	ENST00000392509.2:c.132+4->G	12.37:g.120934362_120934362dupG						DYNLL1_ENST00000548214.1_Frame_Shift_Ins_p.D46fs|DYNLL1_ENST00000392508.2_Intron|DYNLL1_ENST00000242577.6_Intron|DYNLL1_ENST00000552870.1_Intron|DYNLL1_ENST00000550178.1_Frame_Shift_Ins_p.D46fs|DYNLL1_ENST00000549989.1_Intron|DYNLL1_ENST00000392509.2_Intron|DYNLL1_ENST00000548342.1_Intron	p.D46fs			P63167	DYL1_HUMAN			2	260_261	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		0					Q15701	Frame_Shift_Ins	INS	ENST00000392509.2	37	c.136_137insG	CCDS9200.1																																																																																				0.599	DYNLL1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403709.1	NM_003746		58	83						58	83	---	---	---	---
SRP14	6727	broad.mit.edu	37	15	40328591	40328596	+	In_Frame_Del	DEL	GGCAGG	GGCAGG	-	rs550938068|rs556326548|rs368676201|rs377432895|rs371085676	byFrequency	TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr15:40328591_40328596delGGCAGG	ENST00000267884.6	-	5	420_425	c.349_354delCCTGCC	c.(349-354)cctgccdel	p.PA117del	SRP14_ENST00000558527.1_5'UTR|SRP14-AS1_ENST00000504245.1_lincRNA|SRP14_ENST00000558720.1_In_Frame_Del_p.PA37del|SRP14_ENST00000560773.1_In_Frame_Del_p.PA37del	NM_003134.4	NP_003125.3	P37108	SRP14_HUMAN	signal recognition particle 14kDa (homologous Alu RNA binding protein)	117	Ala/Thr-rich.				cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|protein targeting to ER (GO:0045047)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intercellular bridge (GO:0045171)|nucleolus (GO:0005730)|nucleus (GO:0005634)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|skin(1)|upper_aerodigestive_tract(1)	3		all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505)		ttgctgctgcggcaggtgctgctgct	0.481																																						ENST00000267884.6																			0				endometrium(1)|skin(1)|upper_aerodigestive_tract(1)	3						c.(349-354)del		signal recognition particle 14kDa (homologous Alu RNA binding protein)																																				SO:0001651	inframe_deletion	6727				negative regulation of translational elongation|response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|endoplasmic reticulum signal peptide binding|protein binding	g.chr15:40328591_40328596delGGCAGG		CCDS42017.1	15q22	2008-08-15	2002-08-29		ENSG00000140319	ENSG00000140319			11299	protein-coding gene	gene with protein product		600708	"""signal recognition particle 14kD (homologous Alu RNA-binding protein)"""			8196634	Standard	NM_003134		Approved	ALURBP, MGC14326	uc001zkq.2	P37108		ENST00000267884.6:c.349_354delCCTGCC	15.37:g.40328591_40328596delGGCAGG	ENSP00000267884:p.Pro117_Ala118del					SRP14_ENST00000558720.1_In_Frame_Del_p.PA37del|SRP14_ENST00000560773.1_In_Frame_Del_p.PA37del|SRP14_ENST00000558527.1_5'UTR	p.PA117del	NM_003134.4	NP_003125.3	P37108	SRP14_HUMAN		GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505)	5	420_425	-		all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	117			Ala/Thr-rich.		B5BUF5|Q6B0K5|Q96Q14	In_Frame_Del	DEL	ENST00000267884.6	37	c.349_354delCCTGCC	CCDS42017.1																																																																																				0.481	SRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418262.2	NM_003134		7	80						7	80	---	---	---	---
GRAMD2	196996	broad.mit.edu	37	15	72461335	72461335	+	Frame_Shift_Del	DEL	A	A	-			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr15:72461335delA	ENST00000309731.7	-	3	150	c.137delT	c.(136-138)ctgfs	p.L46fs	GRAMD2_ENST00000564184.1_5'Flank	NM_001012642.2	NP_001012660.1	Q8IUY3	GRAM2_HUMAN	GRAM domain containing 2	46						integral component of membrane (GO:0016021)				cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						TGGCCAGTGCAGACTGCAAAG	0.542																																						ENST00000309731.7																			0				cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						c.(136-138)cgfs		GRAM domain containing 2							120.0	98.0	105.0					15																	72461335		2199	4297	6496	SO:0001589	frameshift_variant	196996					integral to membrane		g.chr15:72461335delA	AK002016	CCDS32283.1	15q23	2006-11-29	2005-11-03	2005-11-03					27287	protein-coding gene	gene with protein product						12477932	Standard	NM_001012642		Approved		uc002atq.3	Q8IUY3		ENST00000309731.7:c.137delT	15.37:g.72461335delA	ENSP00000311657:p.Leu46fs						p.L46fs	NM_001012642.2	NP_001012660.1	Q8IUY3	GRAM2_HUMAN			3	150	-			46					B3KT68	Frame_Shift_Del	DEL	ENST00000309731.7	37	c.137delT	CCDS32283.1																																																																																				0.542	GRAMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420040.1	NM_001012642		22	68						22	68	---	---	---	---
RAI1	10743	broad.mit.edu	37	17	17701398	17701398	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr17:17701398delC	ENST00000353383.1	+	3	5605	c.5136delC	c.(5134-5136)ctcfs	p.L1712fs	RAI1_ENST00000261641.6_Intron	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1712					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		AACACTGCCTCCCCAAAAAGA	0.577																																						ENST00000353383.1																			0				breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48						c.(5134-5136)ctfs		retinoic acid induced 1							57.0	61.0	59.0					17																	17701398		2203	4300	6503	SO:0001589	frameshift_variant	10743					cytoplasm|nucleus	zinc ion binding	g.chr17:17701398delC	AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"""Smith-Magenis syndrome chromosome region"""	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.5136delC	17.37:g.17701398delC	ENSP00000323074:p.Leu1712fs					RAI1_ENST00000261641.6_Intron	p.L1712fs	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN		READ - Rectum adenocarcinoma(1115;0.0276)	3	5605	+			1712					Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Frame_Shift_Del	DEL	ENST00000353383.1	37	c.5136delC	CCDS11188.1																																																																																				0.577	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665		23	95						23	95	---	---	---	---
ACACA	31	broad.mit.edu	37	17	35614739	35614739	+	Frame_Shift_Del	DEL	T	T	-			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr17:35614739delT	ENST00000394406.2	-	14	1791	c.1601delA	c.(1600-1602)aatfs	p.N534fs	ACACA_ENST00000360679.3_Frame_Shift_Del_p.N476fs|ACACA_ENST00000353139.5_Frame_Shift_Del_p.N571fs|ACACA_ENST00000335166.5_Frame_Shift_Del_p.N456fs	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	534	Biotin carboxylation.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	AACATTCTTATTGCTGCGGAA	0.418																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	ENST00000353139.5																			0				NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83						c.(1711-1713)atfs		acetyl-CoA carboxylase alpha	Biotin(DB00121)						92.0	89.0	90.0					17																	35614739		2203	4300	6503	SO:0001589	frameshift_variant	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35614739delT	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.1601delA	17.37:g.35614739delT	ENSP00000377928:p.Asn534fs					ACACA_ENST00000360679.3_Frame_Shift_Del_p.N476fs|ACACA_ENST00000394406.2_Frame_Shift_Del_p.N534fs|ACACA_ENST00000335166.5_Frame_Shift_Del_p.N456fs	p.N571fs	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN			14	2193	-		Breast(25;0.00157)|Ovarian(249;0.15)	534			Biotin carboxylation.		B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Frame_Shift_Del	DEL	ENST00000394406.2	37	c.1712delA	CCDS11317.1																																																																																				0.418	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		19	114						19	114	---	---	---	---
TSEN34	79042	broad.mit.edu	37	19	54696135	54696136	+	Frame_Shift_Ins	INS	-	-	GCTA			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr19:54696135_54696136insGCTA	ENST00000396383.1	+	4	967_968	c.656_657insGCTA	c.(655-660)ctgcgcfs	p.R220fs	MBOAT7_ENST00000474910.1_5'Flank|CTD-3093M3.1_ENST00000594382.1_lincRNA|TSEN34_ENST00000396388.2_Frame_Shift_Ins_p.R220fs|MBOAT7_ENST00000338624.6_5'Flank|TSEN34_ENST00000429671.2_Frame_Shift_Ins_p.R220fs|MBOAT7_ENST00000245615.1_5'Flank|MBOAT7_ENST00000431666.2_5'Flank|MBOAT7_ENST00000391754.1_5'Flank|TSEN34_ENST00000302937.4_Frame_Shift_Ins_p.R220fs			Q9BSV6	SEN34_HUMAN	TSEN34 tRNA splicing endonuclease subunit	220					mRNA processing (GO:0006397)|tRNA-type intron splice site recognition and cleavage (GO:0000379)	tRNA-intron endonuclease complex (GO:0000214)	lyase activity (GO:0016829)|nucleic acid binding (GO:0003676)|tRNA-intron endonuclease activity (GO:0000213)			endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	10	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCCCACGAGCTGCGCTACAGTA	0.639																																					Esophageal Squamous(37;841 964 4869 42824)	ENST00000396383.1																			0				endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(655-657)ccgfs		TSEN34 tRNA splicing endonuclease subunit																																				SO:0001589	frameshift_variant	79042				mRNA processing|tRNA-type intron splice site recognition and cleavage	nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity	g.chr19:54696135_54696136insGCTA	AF211970	CCDS42609.1, CCDS74446.1	19q13.4	2013-08-06	2013-08-06	2005-03-12	ENSG00000170892	ENSG00000170892		"""tRNA splicing endonuclease subunits"""	15506	protein-coding gene	gene with protein product		608754	"""leukocyte receptor cluster (LRC) member 5"", ""tRNA splicing endonuclease 34 homolog (SEN34, S. cerevisiae)"", ""tRNA splicing endonuclease 34 homolog (S. cerevisiae)"""	LENG5		10941842, 15109492	Standard	NM_024075		Approved	SEN34, SEN34L	uc002qdw.3	Q9BSV6	OTTHUMG00000066515	Exception_encountered	19.37:g.54696135_54696136insGCTA	ENSP00000379667:p.Arg220fs					TSEN34_ENST00000429671.2_Frame_Shift_Ins_p.P219fs|TSEN34_ENST00000302937.4_Frame_Shift_Ins_p.P219fs|TSEN34_ENST00000396388.2_Frame_Shift_Ins_p.P219fs	p.P219fs			Q9BSV6	SEN34_HUMAN			4	967_968	+	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		219					A6NNB1|B0V3J1|Q9BVT1|Q9H6H5	Frame_Shift_Ins	INS	ENST00000396383.1	37	c.656_657insGCTA	CCDS42609.1																																																																																				0.639	TSEN34-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142200.1	NM_024075		25	82						25	82	---	---	---	---
KDM5C	8242	broad.mit.edu	37	X	53227702	53227703	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chrX:53227702_53227703delGC	ENST00000375401.3	-	17	3017_3018	c.2485_2486delGC	c.(2485-2487)gctfs	p.A829fs	KDM5C_ENST00000465402.1_5'Flank|KDM5C_ENST00000375383.3_Frame_Shift_Del_p.A788fs|KDM5C_ENST00000452825.3_Frame_Shift_Del_p.A762fs|KDM5C_ENST00000375379.3_Frame_Shift_Del_p.A829fs|KDM5C_ENST00000404049.3_Frame_Shift_Del_p.A828fs	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	829					histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						CAGTCCCAGAGCTCGGGACACG	0.569			"""N, F, S"""		clear cell renal carcinoma																																	ENST00000452825.3				Rec	yes		X	Xp11.22-p11.21	8242	"""N, F, S"""	lysine (K)-specific demethylase 5C (JARID1C)			E			clear cell renal carcinoma		0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						c.(2284-2286)tfs		lysine (K)-specific demethylase 5C																																				SO:0001589	frameshift_variant	8242				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chrX:53227702_53227703delGC	Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	11114	protein-coding gene	gene with protein product		314690	"""Jumonji, AT rich interactive domain 1C (RBP2-like)"", ""Smcy homolog, X-linked (mouse)"", ""jumonji, AT rich interactive domain 1C"", ""mental retardation, X-linked 13"""	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.2485_2486delGC	X.37:g.53227702_53227703delGC	ENSP00000364550:p.Ala829fs					KDM5C_ENST00000404049.3_Frame_Shift_Del_p.A828fs|KDM5C_ENST00000375383.3_Frame_Shift_Del_p.A788fs|KDM5C_ENST00000375401.3_Frame_Shift_Del_p.A829fs|KDM5C_ENST00000375379.3_Frame_Shift_Del_p.A829fs	p.A762fs	NM_001146702.1	NP_001140174.1	P41229	KDM5C_HUMAN			15	2816_2817	-			829					B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Frame_Shift_Del	DEL	ENST00000375401.3	37	c.2284_2285delGC	CCDS14351.1																																																																																				0.569	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2	NM_004187		4	6						4	6	---	---	---	---
