#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
CPEB1	64506	broad.mit.edu	37	15	83226611	83226611	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr15:83226611G>A	ENST00000562019.1	-	4	821	c.505C>T	c.(505-507)Cgc>Tgc	p.R169C	CPEB1_ENST00000564522.1_Missense_Mutation_p.R94C|CPEB1_ENST00000568128.1_Missense_Mutation_p.R169C|CPEB1_ENST00000450751.2_Missense_Mutation_p.R94C|CPEB1_ENST00000563800.1_Missense_Mutation_p.R196C|RP11-152F13.10_ENST00000562833.1_5'Flank|CPEB1_ENST00000398592.2_Intron|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000568757.1_Missense_Mutation_p.R94C|CPEB1_ENST00000398591.2_Missense_Mutation_p.R94C|CPEB1_ENST00000423133.2_Missense_Mutation_p.R94C|CPEB1_ENST00000261723.6_Missense_Mutation_p.R172C			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	169					cellular response to amino acid stimulus (GO:0071230)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|mRNA processing (GO:0006397)|negative regulation of cytoplasmic translation (GO:2000766)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			GTGTCCAGGCGTGATCCTCTA	0.552																																						ENST00000563800.1																			0				breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28						c.(586-588)Cgc>Tgc		cytoplasmic polyadenylation element binding protein 1							80.0	82.0	82.0					15																	83226611		1955	4146	6101	SO:0001583	missense	64506				mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding	g.chr15:83226611G>A	AF329402	CCDS42072.1, CCDS45329.1, CCDS45330.1, CCDS42072.2, CCDS45329.2, CCDS45330.2	15q25.1	2008-02-05				ENSG00000214575			21744	protein-coding gene	gene with protein product		607342				11223249	Standard	NM_001079533		Approved	FLJ13203, CPEB	uc002biv.3	Q9BZB8		ENST00000562019.1:c.505C>T	15.37:g.83226611G>A	ENSP00000457836:p.Arg169Cys					CPEB1_ENST00000423133.2_Missense_Mutation_p.R94C|CPEB1_ENST00000562019.1_Missense_Mutation_p.R169C|CPEB1_ENST00000564522.1_Missense_Mutation_p.R94C|CPEB1_ENST00000568128.1_Missense_Mutation_p.R169C|CPEB1_ENST00000398592.2_Intron|CPEB1_ENST00000398591.2_Missense_Mutation_p.R94C|CPEB1_ENST00000450751.2_Missense_Mutation_p.R94C|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000261723.6_Missense_Mutation_p.R172C|CPEB1_ENST00000568757.1_Missense_Mutation_p.R94C	p.R196C			Q9BZB8	CPEB1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.229)		4	2311	-			169			Ser-rich.		B7Z6C6|Q86W46|Q8IV41|Q9BZB7|Q9H8V5	Missense_Mutation	SNP	ENST00000562019.1	37	c.586C>T		.	.	.	.	.	.	.	.	.	.	G	33	5.282278	0.95489	.	.	ENSG00000214575	ENST00000450751;ENST00000398593;ENST00000423133;ENST00000398591;ENST00000261723	.	.	.	5.84	5.84	0.93424	.	0.069321	0.56097	U	0.000024	T	0.68091	0.2963	L	0.27053	0.805	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;P;D	0.83275	0.938;0.996;0.897;0.938	T	0.70608	-0.4825	9	0.87932	D	0	-13.3956	20.1379	0.98040	0.0:0.0:1.0:0.0	.	172;169;169;169	B7Z237;Q9BZB8-3;Q9BZB8;E7ET70	.;.;CPEB1_HUMAN;.	C	169;169;94;94;172	.	ENSP00000261723:R172C	R	-	1	0	CPEB1	81023666	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.966000	0.70395	2.779000	0.95612	0.655000	0.94253	CGC		0.552	CPEB1-006	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000421102.1	NM_030594		12	327	0	0	0	0.387290	0	12	327				
C11orf63	79864	broad.mit.edu	37	11	122805736	122805736	+	Silent	SNP	C	C	T			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr11:122805736C>T	ENST00000531316.1	+	4	1679	c.1587C>T	c.(1585-1587)ctC>ctT	p.L529L	C11orf63_ENST00000227349.2_Silent_p.L529L			Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	529					axoneme assembly (GO:0035082)|brain development (GO:0007420)|cerebrospinal fluid secretion (GO:0033326)|ciliary basal body organization (GO:0032053)					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		AGAAACAACTCAAACAGCCTT	0.368																																						ENST00000227349.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(1585-1587)ctC>ctT		chromosome 11 open reading frame 63							53.0	55.0	55.0					11																	122805736		2202	4299	6501	SO:0001819	synonymous_variant	79864							g.chr11:122805736C>T	BC068507	CCDS8438.1, CCDS8439.1	11q24.1	2012-05-25			ENSG00000109944	ENSG00000109944			26288	protein-coding gene	gene with protein product						12477932	Standard	NM_024806		Approved	FLJ23554	uc001pym.4	Q6NUN7	OTTHUMG00000166027	ENST00000531316.1:c.1587C>T	11.37:g.122805736C>T						C11orf63_ENST00000531316.1_Silent_p.L529L	p.L529L	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)	5	1884	+		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	529					A8K6G0|Q96GB5|Q9H5D6	Silent	SNP	ENST00000531316.1	37	c.1587C>T	CCDS8438.1																																																																																				0.368	C11orf63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387511.1	NM_024806		33	324	0	0	0	0.769981	0	33	324				
NCOR2	9612	broad.mit.edu	37	12	124887093	124887093	+	Silent	SNP	C	C	T			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr12:124887093C>T	ENST00000405201.1	-	14	1497	c.1497G>A	c.(1495-1497)caG>caA	p.Q499Q	NCOR2_ENST00000429285.2_Silent_p.Q498Q|NCOR2_ENST00000397355.1_Silent_p.Q499Q|NCOR2_ENST00000404621.1_Silent_p.Q498Q|NCOR2_ENST00000356219.3_Silent_p.Q499Q|NCOR2_ENST00000404121.2_Silent_p.Q69Q			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	499	Poly-Gln.				cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)	p.Q499Q(9)		breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		gctgctgctgctgttgttgct	0.617																																						ENST00000356219.3																			9	Substitution - coding silent(9)	p.Q499Q(9)	endometrium(4)|large_intestine(3)|kidney(2)	breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(1495-1497)caG>caA		nuclear receptor corepressor 2							9.0	10.0	10.0					12																	124887093		2051	4183	6234	SO:0001819	synonymous_variant	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124887093C>T	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.1497G>A	12.37:g.124887093C>T						NCOR2_ENST00000405201.1_Silent_p.Q499Q|NCOR2_ENST00000404121.2_Silent_p.Q69Q|NCOR2_ENST00000397355.1_Silent_p.Q499Q|NCOR2_ENST00000404621.1_Silent_p.Q498Q|NCOR2_ENST00000429285.2_Silent_p.Q498Q	p.Q499Q	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	15	1652	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		499			Poly-Gln.		O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Silent	SNP	ENST00000405201.1	37	c.1497G>A	CCDS41858.2																																																																																				0.617	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		4	30	0	0	0	0.150653	0	4	30				
AP2B1	163	broad.mit.edu	37	17	33977630	33977630	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr17:33977630G>A	ENST00000262325.7	+	13	2171	c.1618G>A	c.(1618-1620)Gta>Ata	p.V540I	AP2B1_ENST00000537622.2_Missense_Mutation_p.V540I|AP2B1_ENST00000592545.1_Missense_Mutation_p.V502I|AP2B1_ENST00000589344.1_Missense_Mutation_p.V540I|AP2B1_ENST00000538556.1_Missense_Mutation_p.V483I|AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000312678.8_Missense_Mutation_p.V540I	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	540					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	clathrin binding (GO:0030276)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		AGCTAAAGAAGTAGTCTTGTC	0.473																																						ENST00000262325.7																			0				NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1618-1620)Gta>Ata		adaptor-related protein complex 2, beta 1 subunit							165.0	154.0	158.0					17																	33977630		2203	4300	6503	SO:0001583	missense	163				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity	g.chr17:33977630G>A	M34175	CCDS32621.1, CCDS32622.1	17q11.2-q12	2010-06-18			ENSG00000006125	ENSG00000006125			563	protein-coding gene	gene with protein product		601025		ADTB2, CLAPB1		8262066, 8595912	Standard	XM_005257937		Approved		uc002hjq.3	P63010		ENST00000262325.7:c.1618G>A	17.37:g.33977630G>A	ENSP00000262325:p.Val540Ile					AP2B1_ENST00000312678.8_Missense_Mutation_p.V540I|AP2B1_ENST00000589344.1_Missense_Mutation_p.V540I|AP2B1_ENST00000538556.1_Missense_Mutation_p.V483I|AP2B1_ENST00000537622.2_Missense_Mutation_p.V540I|AP2B1_ENST00000592545.1_Missense_Mutation_p.V502I|AP2B1_ENST00000545922.2_3'UTR	p.V540I	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)	13	2171	+		Ovarian(249;0.17)	540					A6NJP3|P21851|Q7Z451|Q96J19	Missense_Mutation	SNP	ENST00000262325.7	37	c.1618G>A	CCDS32622.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.004336	0.74932	.	.	ENSG00000006125	ENST00000262325;ENST00000312678;ENST00000538556;ENST00000537622;ENST00000545922	T;T;T;T	0.12147	2.71;2.71;2.71;2.71	5.73	5.73	0.89815	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.24547	0.0595	N	0.25094	0.71	0.80722	D	1	P;B;B;B	0.48764	0.915;0.009;0.004;0.001	D;B;B;B	0.68483	0.958;0.016;0.014;0.006	T	0.03130	-1.1069	10	0.20046	T	0.44	-3.0874	18.8762	0.92337	0.0:0.0:1.0:0.0	.	277;502;540;540	F5GYG9;B4DWG4;P63010;P63010-2	.;.;AP2B1_HUMAN;.	I	540;540;483;540;277	ENSP00000262325:V540I;ENSP00000314414:V540I;ENSP00000440563:V483I;ENSP00000437413:V540I	ENSP00000262325:V540I	V	+	1	0	AP2B1	31001743	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	9.857000	0.99534	2.720000	0.93068	0.591000	0.81541	GTA		0.473	AP2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448969.1			47	572	0	0	0	0.864702	0	47	572				
KIAA0907	22889	broad.mit.edu	37	1	155887393	155887393	+	Missense_Mutation	SNP	T	T	G			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr1:155887393T>G	ENST00000368321.3	-	11	1360	c.1337A>C	c.(1336-1338)cAg>cCg	p.Q446P	SNORA42_ENST00000384744.1_RNA|KIAA0907_ENST00000368320.3_Missense_Mutation_p.Q446P	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	446	Pro-rich.						RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			gggctggggctggggctgggg	0.567																																						ENST00000368320.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21						c.(1336-1338)cAg>cCg		KIAA0907							14.0	18.0	16.0					1																	155887393		2157	4273	6430	SO:0001583	missense	22889							g.chr1:155887393T>G	BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.1337A>C	1.37:g.155887393T>G	ENSP00000357304:p.Gln446Pro					KIAA0907_ENST00000368321.3_Missense_Mutation_p.Q446P	p.Q446P			Q7Z7F0	K0907_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)		11	1362	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		446			Pro-rich.		O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Missense_Mutation	SNP	ENST00000368321.3	37	c.1337A>C	CCDS30885.1	.	.	.	.	.	.	.	.	.	.	T	10.66	1.413076	0.25465	.	.	ENSG00000132680	ENST00000368321;ENST00000368320	T;T	0.32753	1.44;1.44	5.76	0.471	0.16752	.	0.977681	0.08344	N	0.960281	T	0.04003	0.0112	N	0.03608	-0.345	0.29419	N	0.860713	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43442	-0.9391	10	0.22706	T	0.39	.	8.2981	0.31997	0.1873:0.0:0.4136:0.3991	.	446;446	Q7Z7F0-2;Q7Z7F0	.;K0907_HUMAN	P	446	ENSP00000357304:Q446P;ENSP00000357303:Q446P	ENSP00000357303:Q446P	Q	-	2	0	KIAA0907	154154017	0.988000	0.35896	0.899000	0.35326	0.963000	0.63663	-0.615000	0.05597	-0.064000	0.13043	0.533000	0.62120	CAG		0.567	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039583.1	NM_014949		12	111	0	0	0	0.479597	0	12	111				
GLI1	2735	broad.mit.edu	37	12	57861870	57861870	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr12:57861870G>A	ENST00000228682.2	+	10	1262	c.1171G>A	c.(1171-1173)Gcc>Acc	p.A391T	GLI1_ENST00000543426.1_Missense_Mutation_p.A263T|GLI1_ENST00000546141.1_Missense_Mutation_p.A350T	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	391					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			TGGTCCTGACGCCCATGTGAC	0.572																																					Pancreas(157;841 1936 10503 41495 50368)	ENST00000228682.2																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(1171-1173)Gcc>Acc		GLI family zinc finger 1							92.0	71.0	78.0					12																	57861870		2203	4300	6503	SO:0001583	missense	2735				epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr12:57861870G>A		CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"""Zinc fingers, C2H2-type"""	4317	protein-coding gene	gene with protein product		165220	"""glioma-associated oncogene homolog 1 (zinc finger protein)"", ""glioma-associated oncogene family zinc finger 1"""	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.1171G>A	12.37:g.57861870G>A	ENSP00000228682:p.Ala391Thr					GLI1_ENST00000546141.1_Missense_Mutation_p.A350T|GLI1_ENST00000543426.1_Missense_Mutation_p.A263T	p.A391T	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GBM - Glioblastoma multiforme(3;3.99e-32)		10	1262	+			391					D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Missense_Mutation	SNP	ENST00000228682.2	37	c.1171G>A	CCDS8940.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.244674	0.79912	.	.	ENSG00000111087	ENST00000543426;ENST00000228682;ENST00000546141;ENST00000528467;ENST00000443131	T;T;T;T	0.16073	2.5;2.37;2.46;2.46	4.52	4.52	0.55395	Zinc finger, C2H2 (1);	0.000000	0.49305	D	0.000145	T	0.24392	0.0591	N	0.12527	0.23	0.80722	D	1	D	0.69078	0.997	D	0.68353	0.957	T	0.19877	-1.0292	10	0.72032	D	0.01	.	16.5576	0.84490	0.0:0.0:1.0:0.0	.	391	P08151	GLI1_HUMAN	T	263;391;350;350;263	ENSP00000437607:A263T;ENSP00000228682:A391T;ENSP00000441006:A350T;ENSP00000434408:A350T	ENSP00000228682:A391T	A	+	1	0	GLI1	56148137	1.000000	0.71417	0.919000	0.36401	0.324000	0.28378	9.595000	0.98260	2.505000	0.84491	0.655000	0.94253	GCC		0.572	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269		14	243	0	0	0	0.500413	0	14	243				
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576		TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr17:7577120C>T	ENST00000269305.4	-	8	1007	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000420246.2_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	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)			C|||	1	0.000199681	0.0	0.0	5008	,	,		18620	0.0		0.001	False		,,,				2504	0.0				Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	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"""		669	Substitution - Missense(647)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Unknown(2)|Insertion - Frameshift(1)	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	large_intestine(136)|lung(99)|breast(74)|ovary(59)|upper_aerodigestive_tract(55)|central_nervous_system(46)|oesophagus(35)|haematopoietic_and_lymphoid_tissue(30)|stomach(26)|urinary_tract(25)|pancreas(15)|endometrium(13)|liver(12)|skin(11)|bone(9)|biliary_tract(7)|penis(4)|cervix(2)|genital_tract(2)|NS(2)|soft_tissue(2)|vulva(1)|thyroid(1)|fallopian_tube(1)|prostate(1)|thymus(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	CM004342|CM010472|CM920677	TP53	M	rs28934576	c.(817-819)cGt>cAt	Other conserved DNA damage response genes	tumor protein p53							67.0	58.0	61.0					17																	7577120		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.chr17:7577120C>T	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.818G>A	17.37:g.7577120C>T	ENSP00000269305:p.Arg273His	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.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000269305.4_Missense_Mutation_p.R273H	p.R273H	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)	8	950	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.818G>A	CCDS11118.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.03	3.532510	0.64972	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	4.92	4.92	0.64577	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.79475	2.455	0.80722	A	1	P;D;P;P	0.89917	0.631;1.0;0.831;0.48	B;D;P;B	0.77004	0.274;0.989;0.516;0.242	D	0.96531	0.9393	9	0.72032	D	0.01	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	rs28934576	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	H	273;273;273;273;273;262;141	ENSP00000352610:R273H;ENSP00000269305:R273H;ENSP00000398846:R273H;ENSP00000391127:R273H;ENSP00000391478:R273H;ENSP00000425104:R141H	ENSP00000269305:R273H	R	-	2	0	TP53	7517845	1.000000	0.71417	0.068000	0.19968	0.665000	0.39181	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		17	145	0	0	0	0.500413	0	17	145				
PRKCH	5583	broad.mit.edu	37	14	61789073	61789073	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr14:61789073C>T	ENST00000332981.5	+	1	639	c.254C>T	c.(253-255)gCc>gTc	p.A85V	RP11-902B17.1_ENST00000500036.2_RNA|PRKCH_ENST00000555082.1_5'Flank	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	85	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				blood coagulation (GO:0007596)|negative regulation of glial cell apoptotic process (GO:0034351)|platelet activation (GO:0030168)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein kinase C signaling (GO:0070528)|protein phosphorylation (GO:0006468)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)	p.A85V(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		CTCGAGTTGGCCGTCTTCCAC	0.642																																					Melanoma(135;863 1779 8064 14443 26348)	ENST00000332981.5																			2	Substitution - Missense(2)	p.A85V(2)	kidney(2)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						c.(253-255)gCc>gTc		protein kinase C, eta							59.0	51.0	54.0					14																	61789073		2202	4299	6501	SO:0001583	missense	5583				intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity	g.chr14:61789073C>T	M55284	CCDS9752.1	14q23.1	2009-07-10			ENSG00000027075	ENSG00000027075	2.7.11.1		9403	protein-coding gene	gene with protein product		605437		PRKCL		1986216, 1545821	Standard	NM_006255		Approved	PKC-L, PKCL	uc001xfn.3	P24723	OTTHUMG00000152341	ENST00000332981.5:c.254C>T	14.37:g.61789073C>T	ENSP00000329127:p.Ala85Val					RP11-902B17.1_ENST00000500036.2_RNA	p.A85V	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)	1	639	+			85			C2.		B4DJN5|Q16246|Q8NE03	Missense_Mutation	SNP	ENST00000332981.5	37	c.254C>T	CCDS9752.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.841361	0.91197	.	.	ENSG00000027075	ENST00000557294;ENST00000332981	T;T	0.69175	-0.38;-0.38	4.85	4.85	0.62838	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.108001	0.38436	N	0.001681	T	0.66096	0.2755	L	0.56396	1.775	0.80722	D	1	P	0.39809	0.689	P	0.45167	0.472	T	0.63265	-0.6676	10	0.05351	T	0.99	.	18.1711	0.89745	0.0:1.0:0.0:0.0	.	85	P24723	KPCL_HUMAN	V	85	ENSP00000452129:A85V;ENSP00000329127:A85V	ENSP00000329127:A85V	A	+	2	0	PRKCH	60858826	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.606000	0.82863	2.518000	0.84900	0.655000	0.94253	GCC		0.642	PRKCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276974.2	NM_006255		5	267	0	0	0	0.217242	0	5	267				
ADNP2	22850	broad.mit.edu	37	18	77896690	77896690	+	Nonstop_Mutation	SNP	T	T	A			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr18:77896690T>A	ENST00000262198.4	+	4	3849	c.3394T>A	c.(3394-3396)Taa>Aaa	p.*1132K		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	0					cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|positive regulation of cell growth (GO:0030307)|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(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		ATATGAACCATAAAACTTGCA	0.303																																						ENST00000262198.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42						c.(3394-3396)Taa>Aaa		ADNP homeobox 2							9.0	9.0	9.0					18																	77896690		1999	4153	6152	SO:0001578	stop_lost	22850				cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:77896690T>A	AB020670	CCDS32853.1	18q23	2013-01-07	2007-07-17	2007-07-17	ENSG00000101544	ENSG00000101544		"""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	23803	protein-coding gene	gene with protein product			"""zinc finger protein 508"""	ZNF508			Standard	NM_014913		Approved	KIAA0863	uc002lnw.3	Q6IQ32	OTTHUMG00000172535	ENST00000262198.4:c.3394T>A	18.37:g.77896690T>A	ENSP00000262198:p.*1132Lysext*12						p.*1132K	NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)	4	3849	+		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)	0					A8K951|O94943|Q9H9P3	Nonstop_Mutation	SNP	ENST00000262198.4	37	c.3394T>A	CCDS32853.1	.	.	.	.	.	.	.	.	.	.	T	0.086	-1.175421	0.01646	.	.	ENSG00000101544	ENST00000262198	.	.	.	4.43	1.55	0.23275	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.8593	0.18736	0.0:0.2467:0.4957:0.2576	.	.	.	.	K	1132	.	.	X	+	1	0	ADNP2	75997681	0.028000	0.19301	0.887000	0.34795	0.103000	0.19146	-0.208000	0.09371	0.109000	0.17891	-0.366000	0.07423	TAA		0.303	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418979.1	NM_014913		11	44	0	0	0	0.479597	0	11	44				
TFPI	7035	broad.mit.edu	37	2	188343525	188343525	+	Intron	SNP	T	T	C			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr2:188343525T>C	ENST00000233156.3	-	6	923				AC007319.1_ENST00000412276.1_RNA|TFPI_ENST00000409676.1_Missense_Mutation_p.K212E|TFPI_ENST00000339091.4_Missense_Mutation_p.K212E|TFPI_ENST00000392365.1_Intron|AC007319.1_ENST00000453517.1_RNA	NM_006287.4	NP_006278.1	P10646	TFPI1_HUMAN	tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)						blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)|Dalteparin(DB06779)	GTTCCTTCTTTTGTAACTGTG	0.378																																						ENST00000409676.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9						c.(634-636)Aaa>Gaa		tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)	Coagulation factor VIIa(DB00036)						128.0	114.0	119.0					2																	188343525		2203	4300	6503	SO:0001627	intron_variant	7035				blood coagulation, extrinsic pathway	extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr2:188343525T>C		CCDS2294.1, CCDS33349.1	2q32	2008-06-02			ENSG00000003436	ENSG00000003436			11760	protein-coding gene	gene with protein product	"""extrinsic pathway inhibitor"""	152310		LACI		1993173	Standard	XM_005246818		Approved	EPI, TFI, TFPI1	uc002upy.3	P10646	OTTHUMG00000132634	ENST00000233156.3:c.628+5325A>G	2.37:g.188343525T>C						AC007319.1_ENST00000453517.1_RNA|TFPI_ENST00000392365.1_Intron|AC007319.1_ENST00000412276.1_RNA|TFPI_ENST00000233156.3_Intron|TFPI_ENST00000339091.4_Missense_Mutation_p.K212E	p.K212E			P10646	TFPI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0554)		8	898	-			0					O95103|Q53TS4	Missense_Mutation	SNP	ENST00000233156.3	37	c.634A>G	CCDS2294.1	.	.	.	.	.	.	.	.	.	.	T	17.96	3.516209	0.64634	.	.	ENSG00000003436	ENST00000409676;ENST00000339091	T;T	0.65732	-0.17;-0.17	4.72	3.52	0.40303	.	.	.	.	.	T	0.43545	0.1252	.	.	.	0.80722	D	1	P	0.40731	0.728	B	0.36666	0.23	T	0.15752	-1.0426	8	0.15066	T	0.55	.	9.3735	0.38268	0.0:0.0:0.3816:0.6184	.	212	P10646-2	.	E	212	ENSP00000386344:K212E;ENSP00000342306:K212E	ENSP00000342306:K212E	K	-	1	0	TFPI	188051770	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.937000	0.40193	0.607000	0.29982	0.455000	0.32223	AAA		0.378	TFPI-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255881.1	NM_006287		20	190	0	0	0	0.639603	0	20	190				
ULK4	54986	broad.mit.edu	37	3	41504591	41504591	+	Missense_Mutation	SNP	C	C	A	rs374410332		TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr3:41504591C>A	ENST00000301831.4	-	33	3842	c.3380G>T	c.(3379-3381)cGg>cTg	p.R1127L		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	1127					cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		CAAAGCCAGCCGTACAATACC	0.443																																						ENST00000301831.4																			0				breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22						c.(3379-3381)cGg>cTg		unc-51 like kinase 4							122.0	119.0	120.0					3																	41504591		1958	4170	6128	SO:0001583	missense	54986						ATP binding|protein serine/threonine kinase activity	g.chr3:41504591C>A	AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038			15784	protein-coding gene	gene with protein product			"""unc-51-like kinase 4 (C. elegans)"""			12477932	Standard	NM_017886		Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.3380G>T	3.37:g.41504591C>A	ENSP00000301831:p.Arg1127Leu						p.R1127L	NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.214)	33	3842	-			1127					A6NF15|Q8IW79|Q9NWV6|Q9UF96	Missense_Mutation	SNP	ENST00000301831.4	37	c.3380G>T	CCDS43071.1	.	.	.	.	.	.	.	.	.	.	C	15.05	2.718246	0.48622	.	.	ENSG00000168038	ENST00000301831	T	0.56941	0.43	4.75	4.75	0.60458	Armadillo-like helical (1);Armadillo-type fold (1);	0.137222	0.27591	U	0.018692	T	0.67515	0.2901	L	0.50333	1.59	0.80722	D	1	D	0.89917	1.0	D	0.68192	0.956	T	0.71613	-0.4540	10	0.87932	D	0	.	17.7419	0.88409	0.0:1.0:0.0:0.0	.	1127	Q96C45	ULK4_HUMAN	L	1127	ENSP00000301831:R1127L	ENSP00000301831:R1127L	R	-	2	0	ULK4	41479595	1.000000	0.71417	0.302000	0.25058	0.096000	0.18686	5.658000	0.68003	2.187000	0.69744	0.491000	0.48974	CGG		0.443	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343490.1	XM_929989		33	347	1	0	6.00712e-18	0.760397	6.8331e-18	33	347				
NLRP10	338322	broad.mit.edu	37	11	7981305	7981305	+	Nonsense_Mutation	SNP	A	A	T			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr11:7981305A>T	ENST00000328600.2	-	2	2015	c.1854T>A	c.(1852-1854)tgT>tgA	p.C618*		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	618					defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GGACAGAAGGACATTTTTGCT	0.398																																						ENST00000328600.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(1852-1854)tgT>tgA		NLR family, pyrin domain containing 10							97.0	89.0	92.0					11																	7981305		2201	4295	6496	SO:0001587	stop_gained	338322						ATP binding	g.chr11:7981305A>T	AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"""Nucleotide-binding domain and leucine rich repeat containing"""	21464	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"""	609662	"""NACHT, leucine rich repeat and PYD containing 10"""	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.1854T>A	11.37:g.7981305A>T	ENSP00000327763:p.Cys618*						p.C618*	NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN		Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	2	2015	-			618					Q2M3C4|Q6JGT0	Nonsense_Mutation	SNP	ENST00000328600.2	37	c.1854T>A	CCDS7784.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.580088	0.86645	.	.	ENSG00000182261	ENST00000328600	.	.	.	3.25	2.06	0.26882	.	1.346570	0.05421	N	0.544148	.	.	.	.	.	.	0.50632	D	0.999887	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	6.3929	0.21597	0.7464:0.2536:0.0:0.0	.	.	.	.	X	618	.	ENSP00000327763:C618X	C	-	3	2	NLRP10	7937881	0.000000	0.05858	0.008000	0.14137	0.016000	0.09150	0.712000	0.25779	0.607000	0.29982	0.460000	0.39030	TGT		0.398	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1	NM_176821		14	333	0	0	0	0.435327	0	14	333				
FBN3	84467	broad.mit.edu	37	19	8206691	8206691	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr19:8206691G>A	ENST00000600128.1	-	8	1189	c.775C>T	c.(775-777)Cag>Tag	p.Q259*	FBN3_ENST00000270509.2_Nonsense_Mutation_p.Q259*|FBN3_ENST00000601739.1_Nonsense_Mutation_p.Q259*			Q75N90	FBN3_HUMAN	fibrillin 3	259	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CTGCCTCcctggcacaggcct	0.622																																						ENST00000600128.1																			0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(775-777)Cag>Tag		fibrillin 3							65.0	55.0	58.0					19																	8206691		2203	4300	6503	SO:0001587	stop_gained	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8206691G>A		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.775C>T	19.37:g.8206691G>A	ENSP00000470498:p.Gln259*					FBN3_ENST00000601739.1_Nonsense_Mutation_p.Q259*|FBN3_ENST00000270509.2_Nonsense_Mutation_p.Q259*	p.Q259*			Q75N90	FBN3_HUMAN			8	1189	-			259			EGF-like 2; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Nonsense_Mutation	SNP	ENST00000600128.1	37	c.775C>T	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	g	39	7.681677	0.98431	.	.	ENSG00000142449	ENST00000270509	.	.	.	3.63	3.63	0.41609	.	0.278041	0.30658	U	0.009155	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	.	14.0316	0.64619	0.0:0.0:1.0:0.0	.	.	.	.	X	259	.	ENSP00000270509:Q259X	Q	-	1	0	FBN3	8112691	0.063000	0.20901	1.000000	0.80357	0.887000	0.51463	0.720000	0.25896	1.849000	0.53698	0.491000	0.48974	CAG		0.622	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		18	262	0	0	0	0.592651	0	18	262				
ANO3	63982	broad.mit.edu	37	11	26619970	26619970	+	Missense_Mutation	SNP	C	C	A	rs141900098		TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr11:26619970C>A	ENST00000256737.3	+	15	2358	c.1506C>A	c.(1504-1506)gaC>gaA	p.D502E	ANO3_ENST00000525139.1_Missense_Mutation_p.D486E|ANO3_ENST00000537978.1_Missense_Mutation_p.D486E|ANO3_ENST00000531568.1_Missense_Mutation_p.D356E	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	502					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						ATACTTGGGACCTTATCGAAT	0.388																																						ENST00000256737.3																			0				breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(1504-1506)gaC>gaA		anoctamin 3							123.0	122.0	122.0					11																	26619970		2203	4299	6502	SO:0001583	missense	63982					chloride channel complex	chloride channel activity	g.chr11:26619970C>A	AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	14004	protein-coding gene	gene with protein product	"""transmembrane protein 16C (eight membrane-spanning domains)"""	610110	"""chromosome 11 open reading frame 25"", ""transmembrane protein 16C"""	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.1506C>A	11.37:g.26619970C>A	ENSP00000256737:p.Asp502Glu					ANO3_ENST00000537978.1_Missense_Mutation_p.D486E|ANO3_ENST00000531568.1_Missense_Mutation_p.D356E|ANO3_ENST00000525139.1_Missense_Mutation_p.D486E	p.D502E	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN			15	2358	+			502					B7Z3F5	Missense_Mutation	SNP	ENST00000256737.3	37	c.1506C>A	CCDS31447.1	.	.	.	.	.	.	.	.	.	.	C	18.67	3.673082	0.67928	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000538001;ENST00000531568	T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13	5.51	1.59	0.23543	.	0.000000	0.85682	D	0.000000	T	0.74688	0.3749	M	0.81802	2.56	0.58432	D	0.999996	D;P	0.56035	0.974;0.881	D;P	0.65140	0.932;0.74	T	0.73269	-0.4036	10	0.72032	D	0.01	.	8.8936	0.35449	0.0:0.5697:0.0:0.4303	.	404;502	B7Z7Y6;Q9BYT9	.;ANO3_HUMAN	E	486;486;502;404;356	ENSP00000440737:D486E;ENSP00000432576:D486E;ENSP00000256737:D502E;ENSP00000432394:D356E	ENSP00000256737:D502E	D	+	3	2	ANO3	26576546	1.000000	0.71417	0.994000	0.49952	0.957000	0.61999	0.913000	0.28611	0.044000	0.15775	-0.251000	0.11542	GAC		0.388	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418		22	415	1	0	4.26978e-12	0.654019	4.73841e-12	22	415				
NONO	4841	broad.mit.edu	37	X	70519912	70519912	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chrX:70519912C>T	ENST00000276079.8	+	12	1607	c.1402C>T	c.(1402-1404)Cgt>Tgt	p.R468C	ITGB1BP2_ENST00000538820.1_5'Flank|NONO_ENST00000373841.1_Missense_Mutation_p.R468C|NONO_ENST00000535149.1_Missense_Mutation_p.R379C|NONO_ENST00000373856.3_Missense_Mutation_p.R468C|NONO_ENST00000490044.1_3'UTR|ITGB1BP2_ENST00000373829.3_5'Flank	NM_007363.4	NP_031389.3	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	468					circadian rhythm (GO:0007623)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mRNA processing (GO:0006397)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					CCCAAACAAACGTCGCCGATA	0.468			T	TFE3	papillary renal cancer																																	ENST00000535149.1				Dom	yes		X	Xq13.1	4841	T	"""non-POU domain containing, octamer-binding"""			E	TFE3		papillary renal cancer	NONO/TFE3(2)	0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19						c.(1135-1137)Cgt>Tgt		non-POU domain containing, octamer-binding							92.0	80.0	84.0					X																	70519912		2203	4300	6503	SO:0001583	missense	4841				DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding	g.chrX:70519912C>T	L14599	CCDS14410.1, CCDS55445.1	Xq13.1	2014-06-13	2002-01-14		ENSG00000147140	ENSG00000147140		"""RNA binding motif (RRM) containing"""	7871	protein-coding gene	gene with protein product	"""Nuclear RNA-binding protein, 54-kD"", ""non-Pou domain-containing octamer (ATGCAAAT) binding protein"", ""protein phosphatase 1, regulatory subunit 114"""	300084	"""non-POU-domain-containing, octamer-binding"""			8371983, 9360842	Standard	NM_007363		Approved	NRB54, NMT55, P54NRB, P54, PPP1R114	uc004dzp.3	Q15233	OTTHUMG00000021798	ENST00000276079.8:c.1402C>T	X.37:g.70519912C>T	ENSP00000276079:p.Arg468Cys					NONO_ENST00000373841.1_Missense_Mutation_p.R468C|NONO_ENST00000276079.8_Missense_Mutation_p.R468C|NONO_ENST00000490044.1_3'UTR|NONO_ENST00000373856.3_Missense_Mutation_p.R468C	p.R379C	NM_001145410.1	NP_001138882.1	Q15233	NONO_HUMAN			10	1778	+	Renal(35;0.156)		468					B7Z4C2|D3DVV4|F5GYZ3|O00201|P30807|Q12786|Q9BQC5	Missense_Mutation	SNP	ENST00000276079.8	37	c.1135C>T	CCDS14410.1	.	.	.	.	.	.	.	.	.	.	-	18.97	3.735989	0.69189	.	.	ENSG00000147140	ENST00000535149;ENST00000276079;ENST00000373856;ENST00000373841	T;T;T;T	0.21932	2.02;1.98;1.98;1.98	4.87	4.87	0.63330	.	0.114545	0.64402	D	0.000010	T	0.38480	0.1042	L	0.41492	1.28	0.80722	D	1	D	0.76494	0.999	D	0.71414	0.973	T	0.22871	-1.0204	10	0.87932	D	0	-5.6105	17.2567	0.87059	0.0:1.0:0.0:0.0	.	468	Q15233	NONO_HUMAN	C	379;468;468;468	ENSP00000441364:R379C;ENSP00000276079:R468C;ENSP00000362963:R468C;ENSP00000362947:R468C	ENSP00000276079:R468C	R	+	1	0	NONO	70436637	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.161000	0.64935	2.256000	0.74724	0.529000	0.55759	CGT		0.468	NONO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057138.1	NM_007363		30	480	0	0	0	0.769981	0	30	480				
ADAMTS20	80070	broad.mit.edu	37	12	43771274	43771274	+	Missense_Mutation	SNP	C	C	T	rs112430320		TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr12:43771274C>T	ENST00000389420.3	-	32	4888	c.4889G>A	c.(4888-4890)cGg>cAg	p.R1630Q		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1630	TSP type-1 14. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		AACTATAGGCCGAAGTCGATG	0.413																																						ENST00000389420.3																			0				breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(4888-4890)cGg>cAg		ADAM metallopeptidase with thrombospondin type 1 motif, 20							132.0	121.0	125.0					12																	43771274		2203	4300	6503	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43771274C>T	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.4889G>A	12.37:g.43771274C>T	ENSP00000374071:p.Arg1630Gln						p.R1630Q	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	32	4888	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	1630			TSP type-1 14.		A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.4889G>A	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	C	1.570	-0.534275	0.04082	.	.	ENSG00000173157	ENST00000389420	T	0.58060	0.36	5.08	3.26	0.37387	.	0.767160	0.11370	N	0.570964	T	0.43919	0.1269	L	0.46157	1.445	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.16808	-1.0390	10	0.10902	T	0.67	.	12.2067	0.54356	0.0:0.8589:0.0:0.1411	.	1630	P59510	ATS20_HUMAN	Q	1630	ENSP00000374071:R1630Q	ENSP00000374071:R1630Q	R	-	2	0	ADAMTS20	42057541	0.000000	0.05858	0.708000	0.30435	0.023000	0.10783	-0.573000	0.05874	0.820000	0.34516	-0.122000	0.15005	CGG		0.413	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		7	162	0	0	0	0.307466	0	7	162				
GAS6	2621	broad.mit.edu	37	13	114535842	114535842	+	Missense_Mutation	SNP	A	A	C			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr13:114535842A>C	ENST00000357389.3	-	9	999	c.847T>G	c.(847-849)Tgg>Ggg	p.W283G	GAS6_ENST00000418959.3_5'UTR|GAS6_ENST00000327773.6_Intron|GAS6_ENST00000355761.4_Intron|GAS6_ENST00000450766.1_Intron|GAS6-AS1_ENST00000458001.1_RNA			Q14393	GAS6_HUMAN	growth arrest-specific 6	283					activation of protein kinase B activity (GO:0032148)|apoptotic cell clearance (GO:0043277)|B cell chemotaxis (GO:0035754)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to interferon-alpha (GO:0035457)|cellular response to starvation (GO:0009267)|cellular response to vitamin K (GO:0071307)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|extracellular matrix assembly (GO:0085029)|fusion of virus membrane with host plasma membrane (GO:0019064)|hematopoietic stem cell migration to bone marrow (GO:0097241)|leukocyte migration (GO:0050900)|macrophage cytokine production (GO:0010934)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of oligodendrocyte apoptotic process (GO:1900142)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of renal albumin absorption (GO:2000533)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|peptidyl-serine phosphorylation (GO:0018105)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phagocytosis (GO:0050766)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of TOR signaling (GO:0032008)|post-translational protein modification (GO:0043687)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein targeting to plasma membrane (GO:0072661)|proteolysis (GO:0006508)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|viral entry into host cell (GO:0046718)|viral genome replication (GO:0019079)	cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|platelet alpha granule lumen (GO:0031093)	binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|phosphatidylserine binding (GO:0001786)|protein tyrosine kinase activator activity (GO:0030296)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|voltage-gated calcium channel activity (GO:0005245)			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				GGGAGTGGCCACCCCGCCTCT	0.711																																						ENST00000357389.3																			0				central_nervous_system(4)|ovary(1)	5						c.(847-849)Tgg>Ggg		growth arrest-specific 6																																				SO:0001583	missense	2621				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity	g.chr13:114535842A>C		CCDS45072.1	13q34	2008-07-18			ENSG00000183087	ENSG00000183087			4168	protein-coding gene	gene with protein product	"""AXL stimulatory factor"""	600441		AXLLG		8336730	Standard	NM_000820		Approved	AXSF, FLJ34709, DKFZp666G247	uc001vud.3	Q14393	OTTHUMG00000017395	ENST00000357389.3:c.847T>G	13.37:g.114535842A>C	ENSP00000349962:p.Trp283Gly					GAS6_ENST00000480426.1_5'UTR|GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000355761.4_Intron|GAS6_ENST00000327773.6_Intron|GAS6_ENST00000450766.1_Intron|GAS6_ENST00000418959.3_5'UTR	p.W283G			Q14393	GAS6_HUMAN			9	999	-	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)	283					B3KRQ7|B3KVL4|E9PBL7|Q6IMN1|Q7Z7N3	Missense_Mutation	SNP	ENST00000357389.3	37	c.847T>G		.	.	.	.	.	.	.	.	.	.	A	0.008	-1.871121	0.00542	.	.	ENSG00000183087	ENST00000357389	D	0.90069	-2.61	0.99	-1.98	0.07480	.	.	.	.	.	T	0.81221	0.4777	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.64672	-0.6352	6	0.34782	T	0.22	.	2.7717	0.05336	0.5805:0.0:0.1985:0.221	.	.	.	.	G	283	ENSP00000349962:W283G	ENSP00000349962:W283G	W	-	1	0	GAS6	113578101	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.229000	0.02945	-2.169000	0.00777	-1.843000	0.00578	TGG		0.711	GAS6-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_000820		8	21	0	0	0	0.654019	0	8	21				
TTN	7273	broad.mit.edu	37	2	179569272	179569272	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr2:179569272C>T	ENST00000591111.1	-	103	29200	c.28976G>A	c.(28975-28977)gGt>gAt	p.G9659D	TTN_ENST00000589042.1_Missense_Mutation_p.G9976D|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G8732D|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13735					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATGTGTGGACCACAAACCAA	0.383																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(29926-29928)gGt>gAt		titin							95.0	88.0	91.0					2																	179569272		1898	4111	6009	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179569272C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.28976G>A	2.37:g.179569272C>T	ENSP00000465570:p.Gly9659Asp					TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G9659D|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G8732D|TTN-AS1_ENST00000585451.1_RNA	p.G9976D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		105	30151	-			9659			Glu-rich.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.29927G>A		.	.	.	.	.	.	.	.	.	.	C	16.68	3.189485	0.57909	.	.	ENSG00000155657	ENST00000342992	T	0.59224	0.28	5.75	5.75	0.90469	Immunoglobulin subtype (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.77198	0.4095	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78259	-0.2273	9	0.87932	D	0	.	19.9522	0.97203	0.0:1.0:0.0:0.0	.	9659	Q8WZ42	TITIN_HUMAN	D	8732	ENSP00000343764:G8732D	ENSP00000343764:G8732D	G	-	2	0	TTN	179277517	1.000000	0.71417	0.997000	0.53966	0.871000	0.50021	7.818000	0.86416	2.725000	0.93324	0.655000	0.94253	GGT		0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	185	0	0	0	0.278610	0	8	185				
LINC00969	440993	broad.mit.edu	37	3	195410689	195410689	+	lincRNA	SNP	C	C	T	rs6583275	byFrequency	TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr3:195410689C>T	ENST00000445430.1	+	0	1886									long intergenic non-protein coding RNA 969																		CTTTGAGGTGCACTGGAGGAA	0.567													.|||	701	0.139976	0.0552	0.1571	5008	,	,		35599	0.1855		0.16	False		,,,				2504	0.1748					ENST00000445430.1																			0																																																			0							g.chr3:195410689C>T	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195410689C>T														0	1886	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.567	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			10	77	0	0	0	0.387290	0	10	77				
SPAG17	200162	broad.mit.edu	37	1	118535130	118535130	+	Missense_Mutation	SNP	T	T	G			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr1:118535130T>G	ENST00000336338.5	-	36	5385	c.5320A>C	c.(5320-5322)Ata>Cta	p.I1774L		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1774						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TCATTCTTTATGACCTCATGC	0.473																																						ENST00000336338.5																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123						c.(5320-5322)Ata>Cta		sperm associated antigen 17							114.0	111.0	112.0					1																	118535130		2203	4300	6503	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118535130T>G		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.5320A>C	1.37:g.118535130T>G	ENSP00000337804:p.Ile1774Leu						p.I1774L	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	36	5385	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	1774					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.5320A>C	CCDS899.1	.	.	.	.	.	.	.	.	.	.	T	14.79	2.640522	0.47153	.	.	ENSG00000155761	ENST00000336338;ENST00000437255	T	0.19105	2.17	5.38	4.24	0.50183	.	0.209828	0.49916	D	0.000132	T	0.05135	0.0137	L	0.39085	1.19	0.28514	N	0.913392	B	0.13594	0.008	B	0.14578	0.011	T	0.38351	-0.9665	10	0.11182	T	0.66	.	10.8358	0.46685	0.1417:0.0:0.0:0.8583	.	1774	Q6Q759	SPG17_HUMAN	L	1774;254	ENSP00000337804:I1774L	ENSP00000337804:I1774L	I	-	1	0	SPAG17	118336653	1.000000	0.71417	0.971000	0.41717	0.944000	0.59088	1.938000	0.40203	0.854000	0.35336	0.533000	0.62120	ATA		0.473	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		13	547	0	0	0	0.457914	0	13	547				
EMR2	30817	broad.mit.edu	37	19	14854232	14854232	+	Splice_Site	SNP	C	C	T	rs202101555		TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr19:14854232C>T	ENST00000315576.3	-	20	2914	c.2463G>A	c.(2461-2463)acG>acA	p.T821T	EMR2_ENST00000346057.1_Splice_Site_p.T772T|EMR2_ENST00000595839.1_Splice_Site_p.T679T|EMR2_ENST00000392965.3_Splice_Site_p.T763T|EMR2_ENST00000596991.2_Splice_Site_p.T810T|EMR2_ENST00000353005.1_Splice_Site_p.T679T|EMR2_ENST00000353876.1_Splice_Site_p.T728T|EMR2_ENST00000601345.1_Splice_Site_p.T810T|EMR2_ENST00000594076.1_Splice_Site_p.T728T|EMR2_ENST00000594294.1_Splice_Site_p.T772T|EMR2_ENST00000392967.2_Splice_Site_p.T810T	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	821					cell adhesion (GO:0007155)|cell migration (GO:0016477)|G-protein coupled receptor signaling pathway (GO:0007186)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						GTGATCTTACCGTGCTGGGTT	0.507																																						ENST00000315576.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						c.e20+1		egf-like module containing, mucin-like, hormone receptor-like 2							328.0	278.0	295.0					19																	14854232		2203	4300	6503	SO:0001630	splice_region_variant	30817				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:14854232C>T	AF114491	CCDS32935.1, CCDS59361.1	19p13.1	2014-08-08	2003-11-26			ENSG00000127507		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	3337	protein-coding gene	gene with protein product		606100	"""egf-like module containing, mucin-like, hormone receptor-like sequence 2"""				Standard	NM_013447		Approved	CD312	uc002mzp.2	Q9UHX3		ENST00000315576.3:c.2463+1G>A	19.37:g.14854232C>T						EMR2_ENST00000392967.2_Splice_Site_p.T810_splice|EMR2_ENST00000353876.1_Splice_Site_p.T728_splice|EMR2_ENST00000594076.1_Splice_Site_p.T728_splice|EMR2_ENST00000594294.1_Splice_Site_p.T772_splice|EMR2_ENST00000596991.2_Splice_Site_p.T810_splice|EMR2_ENST00000392965.3_Splice_Site_p.T763_splice|EMR2_ENST00000595839.1_Splice_Site_p.T679_splice|EMR2_ENST00000346057.1_Splice_Site_p.T772_splice|EMR2_ENST00000601345.1_Splice_Site_p.T810_splice|EMR2_ENST00000353005.1_Splice_Site_p.T679_splice	p.T821_splice	NM_013447.2	NP_038475.2	Q9UHX3	EMR2_HUMAN			20	2914	-			821					B4DQ96|E7ESD7|E9PBR1|E9PEL6|E9PFQ5|E9PG91|Q8NG96|Q9Y4B1	Splice_Site	SNP	ENST00000315576.3	37	c.2463_splice	CCDS32935.1																																																																																				0.507	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466502.2		Silent	10	754	0	0	0	0.411799	0	10	754				
SULF1	23213	broad.mit.edu	37	8	70512900	70512900	+	Missense_Mutation	SNP	C	C	A			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr8:70512900C>A	ENST00000260128.4	+	9	1514	c.797C>A	c.(796-798)cCa>cAa	p.P266Q	SULF1_ENST00000458141.2_Missense_Mutation_p.P266Q|SULF1_ENST00000402687.4_Missense_Mutation_p.P266Q|SULF1_ENST00000419716.3_Missense_Mutation_p.P266Q|SULF1_ENST00000521946.1_3'UTR	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	266					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TACACAGGACCAATGCTGCCC	0.393																																						ENST00000260128.4																			0				breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(796-798)cCa>cAa		sulfatase 1							156.0	147.0	150.0					8																	70512900		2203	4300	6503	SO:0001583	missense	23213				apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr8:70512900C>A	AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.797C>A	8.37:g.70512900C>A	ENSP00000260128:p.Pro266Gln					SULF1_ENST00000458141.2_Missense_Mutation_p.P266Q|SULF1_ENST00000419716.3_Missense_Mutation_p.P266Q|SULF1_ENST00000402687.4_Missense_Mutation_p.P266Q|SULF1_ENST00000521946.1_3'UTR	p.P266Q	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)		9	1514	+	Breast(64;0.0654)		266					Q86YV8|Q8NCA2|Q9UPS5	Missense_Mutation	SNP	ENST00000260128.4	37	c.797C>A	CCDS6204.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.288091	0.80803	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716	D;D;D;D	0.99089	-5.41;-5.41;-5.41;-5.41	6.02	6.02	0.97574	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.047800	0.85682	D	0.000000	D	0.98635	0.9543	M	0.72479	2.2	0.80722	D	1	P	0.37997	0.614	B	0.43838	0.433	D	0.98971	1.0801	10	0.45353	T	0.12	.	20.547	0.99278	0.0:1.0:0.0:0.0	.	266	Q8IWU6	SULF1_HUMAN	Q	266	ENSP00000403040:P266Q;ENSP00000260128:P266Q;ENSP00000385704:P266Q;ENSP00000390315:P266Q	ENSP00000260128:P266Q	P	+	2	0	SULF1	70675454	1.000000	0.71417	0.976000	0.42696	0.992000	0.81027	7.818000	0.86416	2.850000	0.98022	0.650000	0.86243	CCA		0.393	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170		18	533	1	0	5.35267e-07	0.557998	5.79872e-07	18	533				
KCNJ2	3759	broad.mit.edu	37	17	68172063	68172063	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr17:68172063G>A	ENST00000243457.3	+	2	1266	c.883G>A	c.(883-885)Gtg>Atg	p.V295M	KCNJ2_ENST00000535240.1_Missense_Mutation_p.V295M	NM_000891.2	NP_000882.1	P63252	KCNJ2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	295					cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|magnesium ion transport (GO:0015693)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of resting membrane potential (GO:0060075)|regulation of skeletal muscle contraction via regulation of action potential (GO:0014861)|relaxation of cardiac muscle (GO:0055119)|relaxation of skeletal muscle (GO:0090076)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of membrane (GO:0031224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					CTTTGAAATCGTGGTCATACT	0.458																																						ENST00000243457.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25						c.(883-885)Gtg>Atg		potassium inwardly-rectifying channel, subfamily J, member 2							73.0	74.0	74.0					17																	68172063		2203	4300	6503	SO:0001583	missense	3759				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding	g.chr17:68172063G>A	AF011904	CCDS11688.1	17q24.3	2014-09-17				ENSG00000123700		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6263	protein-coding gene	gene with protein product		600681				7696590, 11240146, 16382105	Standard	NM_000891		Approved	Kir2.1, IRK1, LQT7	uc002jir.3	P63252		ENST00000243457.3:c.883G>A	17.37:g.68172063G>A	ENSP00000243457:p.Val295Met					KCNJ2_ENST00000535240.1_Missense_Mutation_p.V295M	p.V295M	NM_000891.2	NP_000882.1	P63252	IRK2_HUMAN			2	1266	+	Breast(10;1.64e-08)		295					O15110|P48049	Missense_Mutation	SNP	ENST00000243457.3	37	c.883G>A	CCDS11688.1	.	.	.	.	.	.	.	.	.	.	G	18.16	3.561962	0.65538	.	.	ENSG00000123700	ENST00000535240;ENST00000243457	D;D	0.95788	-3.81;-3.81	5.77	5.77	0.91146	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.98541	0.9513	H	0.94264	3.515	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98917	1.0782	9	.	.	.	.	20.3626	0.98863	0.0:0.0:1.0:0.0	.	295	P63252	IRK2_HUMAN	M	295	ENSP00000441848:V295M;ENSP00000243457:V295M	.	V	+	1	0	KCNJ2	65683658	1.000000	0.71417	0.153000	0.22517	0.927000	0.56198	8.009000	0.88606	2.885000	0.99019	0.655000	0.94253	GTG		0.458	KCNJ2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450889.1	NM_000891		13	303	0	0	0	0.435327	0	13	303				
EPHA5	2044	broad.mit.edu	37	4	66197831	66197831	+	Missense_Mutation	SNP	C	C	A			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr4:66197831C>A	ENST00000273854.3	-	17	3468	c.2868G>T	c.(2866-2868)ttG>ttT	p.L956F	EPHA5_ENST00000432638.2_Missense_Mutation_p.L793F|EPHA5_ENST00000511294.1_Missense_Mutation_p.L957F|EPHA5_ENST00000354839.4_Missense_Mutation_p.L934F	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	956					axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TATGTTCTGCCAATAAATTAG	0.323										TSP Lung(17;0.13)																												ENST00000273854.3																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						c.(2866-2868)ttG>ttT		EPH receptor A5							54.0	49.0	51.0					4																	66197831		2203	4300	6503	SO:0001583	missense	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66197831C>A	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.2868G>T	4.37:g.66197831C>A	ENSP00000273854:p.Leu956Phe	TSP Lung(17;0.13)				EPHA5_ENST00000511294.1_Missense_Mutation_p.L957F|EPHA5_ENST00000354839.4_Missense_Mutation_p.L934F|EPHA5_ENST00000432638.2_Missense_Mutation_p.L793F	p.L956F	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN			17	3468	-			956					Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	c.2868G>T	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	C	10.02	1.235612	0.22626	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	T;T;T;T	0.75477	-0.94;-0.91;-0.92;-0.9	5.38	3.63	0.41609	.	0.137810	0.32987	N	0.005409	D	0.82472	0.5044	M	0.71581	2.175	0.42068	D	0.99119	D;D;D;D	0.76494	0.983;0.999;0.99;0.959	B;D;P;B	0.68765	0.425;0.96;0.629;0.274	T	0.83227	-0.0065	10	0.54805	T	0.06	.	10.2379	0.43294	0.0:0.7881:0.0:0.2119	.	935;957;934;956	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	F	956;793;934;957	ENSP00000273854:L956F;ENSP00000389208:L793F;ENSP00000346899:L934F;ENSP00000427638:L957F	ENSP00000273854:L956F	L	-	3	2	EPHA5	65880426	1.000000	0.71417	1.000000	0.80357	0.706000	0.40770	1.027000	0.30115	1.421000	0.47157	0.491000	0.48974	TTG		0.323	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		7	155	1	0	0.00198382	0.248553	0.00200586	7	155				
C12orf40	283461	broad.mit.edu	37	12	40044057	40044057	+	Missense_Mutation	SNP	G	G	C			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr12:40044057G>C	ENST00000324616.5	+	7	741	c.587G>C	c.(586-588)tGt>tCt	p.C196S	C12orf40_ENST00000405531.3_Missense_Mutation_p.C196S|C12orf40_ENST00000398716.1_Missense_Mutation_p.C119S	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	196										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						ACTGTTAACTGTTCTGATTCC	0.279																																						ENST00000324616.5																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						c.(586-588)tGt>tCt		chromosome 12 open reading frame 40							83.0	75.0	77.0					12																	40044057		1804	4064	5868	SO:0001583	missense	283461							g.chr12:40044057G>C	AK097445	CCDS41770.1	12q12	2008-08-04			ENSG00000180116	ENSG00000180116			26846	protein-coding gene	gene with protein product						12477932	Standard	XM_005268806		Approved	FLJ40126	uc001rmc.3	Q86WS4	OTTHUMG00000133567	ENST00000324616.5:c.587G>C	12.37:g.40044057G>C	ENSP00000317671:p.Cys196Ser					C12orf40_ENST00000398716.1_Missense_Mutation_p.C119S|C12orf40_ENST00000405531.3_Missense_Mutation_p.C196S	p.C196S	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN			7	741	+			196					B7WNU1|Q8IXY6|Q8N818|V9HW02	Missense_Mutation	SNP	ENST00000324616.5	37	c.587G>C	CCDS41770.1	.	.	.	.	.	.	.	.	.	.	G	1.331	-0.596896	0.03771	.	.	ENSG00000180116	ENST00000405531;ENST00000398716;ENST00000324616	T;T	0.44482	0.92;0.93	3.53	-4.21	0.03812	.	0.845638	0.09893	N	0.742091	T	0.18551	0.0445	N	0.19112	0.55	0.09310	N	0.99999	B	0.10296	0.003	B	0.06405	0.002	T	0.19976	-1.0289	10	0.24483	T	0.36	.	0.5707	0.00695	0.1926:0.164:0.2959:0.3476	.	196	Q86WS4	CL040_HUMAN	S	196;119;196	ENSP00000383897:C196S;ENSP00000317671:C196S	ENSP00000317671:C196S	C	+	2	0	C12orf40	38330324	0.401000	0.25303	0.046000	0.18839	0.262000	0.26303	0.148000	0.16224	-0.734000	0.04843	-0.188000	0.12872	TGT		0.279	C12orf40-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257664.2	NM_173599		3	149	0	0	0	0.115264	0	3	149				
LINC00969	440993	broad.mit.edu	37	3	195410687	195410687	+	lincRNA	SNP	T	T	A	rs6583274	byFrequency	TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr3:195410687T>A	ENST00000445430.1	+	0	1884									long intergenic non-protein coding RNA 969																		CCCTTTGAGGTGCACTGGAGG	0.567													.|||	701	0.139976	0.0552	0.1571	5008	,	,		36746	0.1855		0.16	False		,,,				2504	0.1748					ENST00000445430.1																			0																																																			0							g.chr3:195410687T>A	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195410687T>A														0	1884	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.567	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			10	76	0	0	0	0.387290	0	10	76				
ATG2B	55102	broad.mit.edu	37	14	96790267	96790267	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr14:96790267C>T	ENST00000359933.4	-	16	3399	c.2506G>A	c.(2506-2508)Gat>Aat	p.D836N	snoU13_ENST00000458931.1_RNA	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	836					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		GATGTTGTATCTCCATCTACT	0.348																																						ENST00000359933.4																			0				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64						c.(2506-2508)Gat>Aat		autophagy related 2B							102.0	97.0	98.0					14																	96790267		1876	4105	5981	SO:0001583	missense	55102							g.chr14:96790267C>T	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.2506G>A	14.37:g.96790267C>T	ENSP00000353010:p.Asp836Asn						p.D836N	NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	16	3399	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	836					Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	ENST00000359933.4	37	c.2506G>A	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	C	19.11	3.763763	0.69878	.	.	ENSG00000066739	ENST00000359933	T	0.10099	2.91	5.58	4.69	0.59074	.	0.283459	0.28026	U	0.016900	T	0.11024	0.0269	L	0.39633	1.23	0.51233	D	0.999911	B	0.09022	0.002	B	0.09377	0.004	T	0.05517	-1.0880	10	0.36615	T	0.2	.	14.2421	0.65963	0.0:0.9284:0.0:0.0716	.	836	Q96BY7	ATG2B_HUMAN	N	836	ENSP00000353010:D836N	ENSP00000353010:D836N	D	-	1	0	ATG2B	95860020	1.000000	0.71417	0.978000	0.43139	0.974000	0.67602	4.885000	0.63142	1.355000	0.45865	0.591000	0.81541	GAT		0.348	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		11	274	0	0	0	0.411799	0	11	274				
HFM1	164045	broad.mit.edu	37	1	91851171	91851171	+	Missense_Mutation	SNP	G	G	T			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr1:91851171G>T	ENST00000370425.3	-	5	813	c.715C>A	c.(715-717)Cca>Aca	p.P239T	HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Intron	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	239					resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		GAAAAAGATGGTGCTTTGAAC	0.338																																						ENST00000370425.3																			0				breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75						c.(715-717)Cca>Aca		HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)							74.0	72.0	73.0					1																	91851171		2203	4300	6503	SO:0001583	missense	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91851171G>T	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.715C>A	1.37:g.91851171G>T	ENSP00000359454:p.Pro239Thr					HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Intron	p.P239T	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	5	813	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	239					B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	37	c.715C>A	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	g	9.857	1.195255	0.22037	.	.	ENSG00000162669	ENST00000370425;ENST00000541820;ENST00000448819	T	0.59083	0.29	5.71	1.7	0.24286	.	30.057400	0.01273	U	0.009505	T	0.29158	0.0725	L	0.50333	1.59	0.20563	N	0.999885	B;B	0.30763	0.294;0.183	B;B	0.24974	0.057;0.039	T	0.07654	-1.0761	10	0.30854	T	0.27	.	7.7739	0.29026	0.4413:0.0:0.5587:0.0	.	239;239	B7ZM16;A2PYH4	.;HFM1_HUMAN	T	239;272;98	ENSP00000359454:P239T	ENSP00000359454:P239T	P	-	1	0	HFM1	91623759	0.111000	0.22076	0.036000	0.18154	0.729000	0.41735	0.342000	0.19926	0.063000	0.16370	-0.119000	0.15052	CCA		0.338	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		9	272	1	0	0.000442599	0.335167	0.000457688	9	272				
CHRD	8646	broad.mit.edu	37	3	184104344	184104344	+	Missense_Mutation	SNP	T	T	G			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr3:184104344T>G	ENST00000204604.1	+	16	2243	c.1997T>G	c.(1996-1998)gTg>gGg	p.V666G	CHRD_ENST00000545352.1_Intron|CHRD_ENST00000348986.3_Missense_Mutation_p.V626G|CHRD_ENST00000450923.1_Missense_Mutation_p.V666G|EIF2B5_ENST00000444495.1_Intron	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	666					BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCCGAGGGGGTGCGGGCGCTG	0.726																																						ENST00000204604.1																			0				NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(1996-1998)gTg>gGg		chordin							3.0	4.0	3.0					3																	184104344		1677	3445	5122	SO:0001583	missense	8646				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding	g.chr3:184104344T>G	AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.1997T>G	3.37:g.184104344T>G	ENSP00000204604:p.Val666Gly					CHRD_ENST00000545352.1_Intron|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000348986.3_Missense_Mutation_p.V626G|CHRD_ENST00000450923.1_Missense_Mutation_p.V666G	p.V666G	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		16	2243	+	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		666					O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Missense_Mutation	SNP	ENST00000204604.1	37	c.1997T>G	CCDS3266.1	.	.	.	.	.	.	.	.	.	.	T	11.39	1.625293	0.28889	.	.	ENSG00000090539	ENST00000204604;ENST00000450923;ENST00000348986;ENST00000342610	T;T;T	0.14266	2.75;2.53;2.52	4.58	-6.5	0.01884	.	1.936180	0.02212	N	0.063242	T	0.10252	0.0251	L	0.27053	0.805	0.09310	N	0.999999	B;B;B	0.26845	0.161;0.032;0.025	B;B;B	0.24394	0.053;0.021;0.024	T	0.15492	-1.0435	10	0.17832	T	0.49	0.1754	14.5119	0.67794	0.0:0.1738:0.0:0.8262	.	626;666;666	Q9H2X0-5;E7ESX1;Q9H2X0	.;.;CHRD_HUMAN	G	666;666;626;379	ENSP00000204604:V666G;ENSP00000408972:V666G;ENSP00000334036:V626G	ENSP00000204604:V666G	V	+	2	0	CHRD	185587038	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.285000	0.01153	-1.320000	0.02283	-0.479000	0.04858	GTG		0.726	CHRD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280432.1	NM_003741		7	31	0	0	0	0.592651	0	7	31				
MMEL1	79258	broad.mit.edu	37	1	2530110	2530110	+	Silent	SNP	G	G	A	rs368809746		TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr1:2530110G>A	ENST00000378412.3	-	12	1322	c.1161C>T	c.(1159-1161)atC>atT	p.I387I	MMEL1_ENST00000288709.6_Silent_p.I378I|MMEL1_ENST00000502556.1_Silent_p.I230I			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	387						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		AGTAGGTGTCGATGATGTTTT	0.542																																						ENST00000288709.6																			0				cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27						c.(1132-1134)atC>atT		membrane metallo-endopeptidase-like 1		G		1,4405	2.1+/-5.4	0,1,2202	135.0	125.0	128.0		1161	-2.3	0.0	1		128	0,8600		0,0,4300	no	coding-synonymous	MMEL1	NM_033467.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		387/780	2530110	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	79258				proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity	g.chr1:2530110G>A	AF336981	CCDS30569.1, CCDS30569.2	1p36	2008-02-05			ENSG00000142606	ENSG00000142606			14668	protein-coding gene	gene with protein product			"""membrane metallo-endopeptidase-like 2"""	MMEL2			Standard	NM_033467		Approved	SEP, NL1, NL2, NEPII	uc001ajy.2	Q495T6	OTTHUMG00000000846	ENST00000378412.3:c.1161C>T	1.37:g.2530110G>A						MMEL1_ENST00000502556.1_Silent_p.I230I|MMEL1_ENST00000378412.3_Silent_p.I387I	p.I378I	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)	12	1374	-	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	387					B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	Silent	SNP	ENST00000378412.3	37	c.1134C>T	CCDS30569.2																																																																																				0.542	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002395.2	NM_033467		27	313	0	0	0	0.681144	0	27	313				
MCM4	4173	broad.mit.edu	37	8	48887486	48887486	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr8:48887486C>T	ENST00000262105.2	+	14	2538	c.2329C>T	c.(2329-2331)Cgg>Tgg	p.R777W	MCM4_ENST00000523944.1_Missense_Mutation_p.R777W	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	777					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				AACTGATCCCCGGACTGGCAT	0.408																																						ENST00000262105.2																			0				biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44						c.(2329-2331)Cgg>Tgg		minichromosome maintenance complex component 4							104.0	114.0	111.0					8																	48887486		2203	4300	6503	SO:0001583	missense	4173				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding	g.chr8:48887486C>T		CCDS6143.1	8q12-q13	2008-02-05	2007-04-04		ENSG00000104738	ENSG00000104738			6947	protein-coding gene	gene with protein product		602638	"""MCM4 minichromosome maintenance deficient 4 (S. cerevisiae)"""	CDC21		7601140	Standard	NM_005914		Approved	CDC54, hCdc21, P1-Cdc21, MGC33310	uc003xql.2	P33991	OTTHUMG00000164205	ENST00000262105.2:c.2329C>T	8.37:g.48887486C>T	ENSP00000262105:p.Arg777Trp					MCM4_ENST00000523944.1_Missense_Mutation_p.R777W	p.R777W	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN			14	2538	+		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)	777					Q8NEH1|Q99658	Missense_Mutation	SNP	ENST00000262105.2	37	c.2329C>T	CCDS6143.1	.	.	.	.	.	.	.	.	.	.	C	16.70	3.196210	0.58126	.	.	ENSG00000104738	ENST00000523944;ENST00000262105;ENST00000396826;ENST00000429229;ENST00000518382;ENST00000524276;ENST00000521261	T;T	0.11495	2.77;2.77	5.54	1.16	0.20824	.	0.145914	0.64402	D	0.000010	T	0.15869	0.0382	M	0.76574	2.34	0.52501	D	0.999955	D;D	0.62365	0.991;0.991	P;P	0.46452	0.517;0.517	T	0.03051	-1.1078	10	0.66056	D	0.02	-19.7997	8.7111	0.34385	0.652:0.2655:0.0:0.0824	.	777;777	B3KMX0;P33991	.;MCM4_HUMAN	W	777;777;764;737;52;61;61	ENSP00000430194:R777W;ENSP00000262105:R777W	ENSP00000262105:R777W	R	+	1	2	MCM4	49050039	1.000000	0.71417	0.012000	0.15200	0.396000	0.30629	4.273000	0.58914	0.269000	0.21961	0.557000	0.71058	CGG		0.408	MCM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377791.1	NM_005914		14	404	0	0	0	0.435327	0	14	404				
FOCAD	54914	broad.mit.edu	37	9	20789554	20789554	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr9:20789554C>T	ENST00000380249.1	+	13	1766	c.1402C>T	c.(1402-1404)Ctt>Ttt	p.L468F	FOCAD_ENST00000338382.6_Missense_Mutation_p.L468F|SNORA30_ENST00000365319.1_RNA	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	468						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											AGGACAAAATCTTCACCAAAT	0.438																																						ENST00000380249.1																			0											c.(1402-1404)Ctt>Ttt		focadhesin							134.0	129.0	130.0					9																	20789554		2203	4300	6503	SO:0001583	missense	54914					integral to membrane	binding	g.chr9:20789554C>T	AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"""KIAA1797"""	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.1402C>T	9.37:g.20789554C>T	ENSP00000369599:p.Leu468Phe					FOCAD_ENST00000338382.6_Missense_Mutation_p.L468F	p.L468F	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN			13	1766	+			468					D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	ENST00000380249.1	37	c.1402C>T	CCDS34993.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.425574	0.83667	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.08720	3.06;3.06	5.71	5.71	0.89125	.	0.126368	0.56097	D	0.000034	T	0.20495	0.0493	L	0.29908	0.895	0.49389	D	0.999783	D	0.76494	0.999	D	0.85130	0.997	T	0.00491	-1.1708	10	0.62326	D	0.03	-14.2471	18.0382	0.89311	0.0:1.0:0.0:0.0	.	468	Q5VW36	K1797_HUMAN	F	468	ENSP00000369599:L468F;ENSP00000344307:L468F	ENSP00000344307:L468F	L	+	1	0	KIAA1797	20779554	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.983000	0.63832	2.696000	0.92011	0.655000	0.94253	CTT		0.438	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794		31	364	0	0	0	0.750413	0	31	364				
LOC728715	728715	broad.mit.edu	37	12	9713413	9713413	+	RNA	SNP	A	A	G	rs200950634		TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr12:9713413A>G	ENST00000520314.1	+	0	608																											TGTATTACAGACTCAGTGCTC	0.358																																						ENST00000520314.1																			0																																																			0							g.chr12:9713413A>G																													12.37:g.9713413A>G														0	608	+									RNA	SNP	ENST00000520314.1	37																																																																																						0.358	RP11-726G1.1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000381543.1			2	9	0	0	0	0.150653	0	2	9				
UBA1	7317	broad.mit.edu	37	X	47058941	47058941	+	Silent	SNP	T	T	C			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chrX:47058941T>C	ENST00000335972.6	+	5	591	c.408T>C	c.(406-408)gcT>gcC	p.A136A	UBA1_ENST00000377351.4_Silent_p.A136A	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	136	2 approximate repeats.				cell death (GO:0008219)|cellular response to DNA damage stimulus (GO:0006974)|modification-dependent protein catabolic process (GO:0019941)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CCCGCCTCGCTGAGCTCAACA	0.547																																						ENST00000335972.6																			0				breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(406-408)gcT>gcC		ubiquitin-like modifier activating enzyme 1							119.0	109.0	112.0					X																	47058941		2203	4300	6503	SO:0001819	synonymous_variant	7317				cell death|protein modification process		ATP binding|ligase activity|protein binding|small protein activating enzyme activity	g.chrX:47058941T>C	AF258566	CCDS14275.1	Xp11.23	2014-08-13	2007-11-30	2007-11-30	ENSG00000130985	ENSG00000130985	6.3.2.19	"""Ubiquitin-like modifier activating enzymes"""	12469	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog (yeast)"", ""POC20 centriolar protein homolog (Chlamydomonas)"""	314370	"""ubiquitin-activating enzyme E1 (A1S9T and BN75 temperature sensitivity complementing)"", ""ubiquitin-activating enzyme E1"""	A1S9T, GXP1, UBE1		1845793	Standard	NM_153280		Approved	UBE1X, POC20, CFAP124	uc004dhj.4	P22314	OTTHUMG00000021436	ENST00000335972.6:c.408T>C	X.37:g.47058941T>C						UBA1_ENST00000377351.4_Silent_p.A136A	p.A136A	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN			5	591	+			136			2 approximate repeats.		Q5JRR8|Q96E13	Silent	SNP	ENST00000335972.6	37	c.408T>C	CCDS14275.1																																																																																				0.547	UBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056389.1	NM_003334		18	525	0	0	0	0.520397	0	18	525				
CYP46A1	10858	broad.mit.edu	37	14	100182237	100182237	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr14:100182237C>T	ENST00000261835.3	+	8	888	c.784C>T	c.(784-786)Cgg>Tgg	p.R262W	CYP46A1_ENST00000554176.1_Missense_Mutation_p.R109W|CYP46A1_ENST00000423126.2_Missense_Mutation_p.R165W	NM_006668.1	NP_006659.1	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	262					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol catabolic process (GO:0006707)|nervous system development (GO:0007399)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol 24-hydroxylase activity (GO:0033781)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				CCAGCGCCGCCGGGAAGCCCT	0.657																																						ENST00000554176.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25						c.(325-327)Cgg>Tgg		cytochrome P450, family 46, subfamily A, polypeptide 1							27.0	32.0	30.0					14																	100182237		2203	4300	6503	SO:0001583	missense	10858				bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity	g.chr14:100182237C>T	AF094480	CCDS9954.1	14q32.2	2013-05-03	2003-02-14	2003-02-28	ENSG00000036530	ENSG00000036530		"""Cytochrome P450s"""	2641	protein-coding gene	gene with protein product		604087	"""cytochrome P450, subfamily 46 (cholesterol 24-hydroxylase)"""	CYP46		10377398	Standard	NM_006668		Approved		uc001ygo.3	Q9Y6A2	OTTHUMG00000171510	ENST00000261835.3:c.784C>T	14.37:g.100182237C>T	ENSP00000261835:p.Arg262Trp					CYP46A1_ENST00000261835.3_Missense_Mutation_p.R262W|CYP46A1_ENST00000423126.2_Missense_Mutation_p.R165W	p.R109W			Q9Y6A2	CP46A_HUMAN			3	991	+		Melanoma(154;0.0866)|all_epithelial(191;0.179)	262					B4DHP8|E7EQG9|Q8N2B0	Missense_Mutation	SNP	ENST00000261835.3	37	c.325C>T	CCDS9954.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.67|19.67	3.870874|3.870874	0.72065|0.72065	.|.	.|.	ENSG00000036530|ENSG00000036530	ENST00000380228|ENST00000261835;ENST00000423126;ENST00000554176;ENST00000556313	.|T;T;T;T	.|0.71698	.|-0.59;-0.59;-0.59;-0.59	4.37|4.37	2.31|2.31	0.28768|0.28768	.|.	.|0.227351	.|0.43260	.|D	.|0.000591	T|T	0.79452|0.79452	0.4448|0.4448	M|M	0.73319|0.73319	2.225|2.225	0.35997|0.35997	D|D	0.837135|0.837135	.|D;D	.|0.89917	.|1.0;0.999	.|D;D	.|0.70935	.|0.971;0.964	T|T	0.83233|0.83233	-0.0062|-0.0062	5|10	.|0.87932	.|D	.|0	.|.	8.7105|8.7105	0.34380|0.34380	0.4145:0.5855:0.0:0.0|0.4145:0.5855:0.0:0.0	.|.	.|109;262	.|Q8N2B0;Q9Y6A2	.|.;CP46A_HUMAN	L|W	248|262;165;109;15	.|ENSP00000261835:R262W;ENSP00000405779:R165W;ENSP00000450553:R109W;ENSP00000451602:R15W	.|ENSP00000261835:R262W	P|R	+|+	2|1	0|2	CYP46A1|CYP46A1	99251990|99251990	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	0.605000|0.605000	0.24179|0.24179	1.120000|1.120000	0.41904|0.41904	0.561000|0.561000	0.74099|0.74099	CCG|CGG		0.657	CYP46A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413814.1			9	248	0	0	0	0.307466	0	9	248				
ZNRD1-AS1	80862	broad.mit.edu	37	6	29974681	29974681	+	RNA	SNP	G	G	C			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr6:29974681G>C	ENST00000376797.3	-	0	1346				HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA			Q2KJ03	ZRAS1_HUMAN	ZNRD1 antisense RNA 1																		GTTCGTGCGGGTCGACAGTGA	0.662																																						ENST00000376797.3																			0																																																			0							g.chr6:29974681G>C	AF032110		6p21.33	2014-08-14	2012-08-15	2010-11-25	ENSG00000204623	ENSG00000204623		"""Long non-coding RNAs"""	13924	non-coding RNA	RNA, long non-coding		615714	"""chromosome 6 open reading frame 12"", ""non-protein coding RNA 171"", ""ZNRD1 antisense RNA (non-protein coding)"", ""ZNRD1 antisense RNA 1 (non-protein coding)"""	C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS		9553157, 11130983, 25110835	Standard	NR_026751		Approved	HTEX4, Em:AB023056.3	uc003rto.3	Q2KJ03	OTTHUMG00000031109		6.37:g.29974681G>C						ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|HLA-J_ENST00000462773.1_RNA								0	1346	-									RNA	SNP	ENST00000376797.3	37																																																																																						0.662	ZNRD1-AS1-006	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000253083.1	NR_026751		5	52	0	0	0	0.184627	0	5	52				
KDM6A	7403	broad.mit.edu	37	X	44936003	44936003	+	Nonsense_Mutation	SNP	A	A	T			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chrX:44936003A>T	ENST00000377967.4	+	18	2805	c.2764A>T	c.(2764-2766)Aga>Tga	p.R922*	KDM6A_ENST00000382899.4_Nonsense_Mutation_p.R929*|KDM6A_ENST00000543216.1_Nonsense_Mutation_p.R843*|KDM6A_ENST00000536777.1_Nonsense_Mutation_p.R877*	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	922	Interaction with SUPT6H. {ECO:0000250}.		R -> K (in a patient with chronic myelomonocytic leukemia). {ECO:0000269|PubMed:21828135}.		canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TCCACCTCCAAGACCACCATC	0.373			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	ENST00000377967.4				Rec	yes		X	Xp11.2	7403	"""D, N, F, S"""	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			"""renal, oesophageal SCC, MM"""		6	Whole gene deletion(6)	p.0?(6)	oesophagus(2)|breast(2)|pancreas(2)	NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						c.(2764-2766)Aga>Tga		lysine (K)-specific demethylase 6A							260.0	197.0	218.0					X																	44936003		2203	4300	6503	SO:0001587	stop_gained	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44936003A>T	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.2764A>T	X.37:g.44936003A>T	ENSP00000367203:p.Arg922*					KDM6A_ENST00000543216.1_Nonsense_Mutation_p.R843*|KDM6A_ENST00000382899.4_Nonsense_Mutation_p.R929*|KDM6A_ENST00000536777.1_Nonsense_Mutation_p.R877*	p.R922*	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN			18	2805	+			922					Q52LL9|Q5JVQ7	Nonsense_Mutation	SNP	ENST00000377967.4	37	c.2764A>T	CCDS14265.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	38|38	7.129326|7.129326	0.98081|0.98081	.|.	.|.	ENSG00000147050|ENSG00000147050	ENST00000414389;ENST00000433797|ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216	.|.	.|.	.|.	5.65|5.65	3.33|3.33	0.38152|0.38152	.|.	.|0.050169	.|0.85682	.|D	.|0.000000	T|.	0.32194|.	0.0821|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.35226|.	-0.9797|.	3|.	.|0.02654	.|T	.|1	-2.4779|-2.4779	12.7932|12.7932	0.57545|0.57545	0.6538:0.3462:0.0:0.0|0.6538:0.3462:0.0:0.0	.|.	.|.	.|.	.|.	M|X	519;564|619;922;877;929;843	.|.	.|ENSP00000334340:R619X	K|R	+|+	2|1	0|2	KDM6A|KDM6A	44820947|44820947	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	2.073000|2.073000	0.41519|0.41519	0.743000|0.743000	0.32719|0.32719	0.481000|0.481000	0.45027|0.45027	AAG|AGA		0.373	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140		21	445	0	0	0	0.608945	0	21	445				
KRT15	3866	broad.mit.edu	37	17	39673185	39673185	+	Missense_Mutation	SNP	C	C	T	rs138271368	byFrequency	TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr17:39673185C>T	ENST00000254043.3	-	3	4198	c.613G>A	c.(613-615)Gtt>Att	p.V205I	KRT15_ENST00000393981.3_Missense_Mutation_p.V40I|KRT15_ENST00000393976.2_Missense_Mutation_p.V205I|KRT15_ENST00000393974.3_Missense_Mutation_p.V40I	NM_002275.3	NP_002266	P19012	K1C15_HUMAN	keratin 15	205	Coil 1B.|Rod.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)	p.V205I(3)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				TCAGCCTCAACGCCCTGGCGC	0.612													C|||	2	0.000399361	0.0	0.0014	5008	,	,		19121	0.001		0.0	False		,,,				2504	0.0					ENST00000254043.3																			3	Substitution - Missense(3)	p.V205I(3)	prostate(1)|kidney(1)|central_nervous_system(1)	NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(613-615)Gtt>Att		keratin 15		C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	75.0	75.0	75.0		613	2.7	1.0	17	dbSNP_134	75	0,8600		0,0,4300	yes	missense	KRT15	NM_002275.3	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	205/457	39673185	1,13005	2203	4300	6503	SO:0001583	missense	3866				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39673185C>T		CCDS11398.1	17q21.2	2013-06-20			ENSG00000171346	ENSG00000171346		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6421	protein-coding gene	gene with protein product	"""keratin-15, basic"", ""keratin-15, beta"", ""type I cytoskeletal 15"", ""cytokeratin 15"""	148030				16831889	Standard	NM_002275		Approved	K15, CK15, K1CO	uc002hwy.3	P19012	OTTHUMG00000133435	ENST00000254043.3:c.613G>A	17.37:g.39673185C>T	ENSP00000254043:p.Val205Ile					KRT15_ENST00000393974.3_Missense_Mutation_p.V40I|KRT15_ENST00000393976.2_Missense_Mutation_p.V205I|KRT15_ENST00000393981.3_Missense_Mutation_p.V40I	p.V205I	NM_002275.3	NP_002266.2	P19012	K1C15_HUMAN			3	4198	-		Breast(137;0.000286)	205			Coil 1B.|Rod.		B3KQY1|B3KRA2|E0CX14|Q53XV8|Q9BUG4	Missense_Mutation	SNP	ENST00000254043.3	37	c.613G>A	CCDS11398.1	6	0.0027472527472527475	1	0.0020325203252032522	1	0.0027624309392265192	3	0.005244755244755245	1	0.0013192612137203166	C	18.69	3.678865	0.68042	2.27E-4	0.0	ENSG00000171346	ENST00000254043;ENST00000393974;ENST00000393976;ENST00000393981;ENST00000458290	D;D;D;D;D	0.89617	-2.54;-2.54;-2.54;-2.54;-2.54	4.86	2.74	0.32292	Filament (1);	0.000000	0.41823	D	0.000804	D	0.93288	0.7861	M	0.93150	3.385	0.47037	D	0.99929	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.997	D	0.93234	0.6620	10	0.87932	D	0	.	10.0097	0.41979	0.1362:0.7907:0.0:0.0731	.	40;205;205	A8MT21;B3KVF5;P19012	.;.;K1C15_HUMAN	I	205;40;205;40;40	ENSP00000254043:V205I;ENSP00000377544:V40I;ENSP00000377546:V205I;ENSP00000377550:V40I;ENSP00000409282:V40I	ENSP00000254043:V205I	V	-	1	0	KRT15	36926711	1.000000	0.71417	0.999000	0.59377	0.185000	0.23345	4.807000	0.62576	1.254000	0.44035	0.650000	0.86243	GTT		0.612	KRT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257301.1	NM_002275		19	377	0	0	0	0.575678	0	19	377				
FAT3	120114	broad.mit.edu	37	11	92616466	92616466	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr11:92616466G>A	ENST00000298047.6	+	23	12861	c.12844G>A	c.(12844-12846)Gtg>Atg	p.V4282M	FAT3_ENST00000489716.1_3'UTR|FAT3_ENST00000409404.2_Missense_Mutation_p.V4282M|FAT3_ENST00000533797.1_Missense_Mutation_p.V617M|FAT3_ENST00000525166.1_Missense_Mutation_p.V4132M			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4282					homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GGGCGTGGTCGTGTGCAGTGT	0.657										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(12844-12846)Gtg>Atg		FAT atypical cadherin 3							31.0	38.0	36.0					11																	92616466		2098	4197	6295	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92616466G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.12844G>A	11.37:g.92616466G>A	ENSP00000298047:p.Val4282Met	TCGA Ovarian(4;0.039)				FAT3_ENST00000525166.1_Missense_Mutation_p.V4132M|FAT3_ENST00000533797.1_Missense_Mutation_p.V617M|FAT3_ENST00000489716.1_3'UTR|FAT3_ENST00000409404.2_Missense_Mutation_p.V4282M	p.V4282M			Q8TDW7	FAT3_HUMAN			23	12861	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	4282					B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.12844G>A		.	.	.	.	.	.	.	.	.	.	G	33	5.201275	0.94997	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	T;T;T;D	0.90261	-1.04;-1.32;-1.05;-2.64	5.85	5.85	0.93711	.	.	.	.	.	D	0.95736	0.8613	M	0.81497	2.545	0.80722	D	1	D;B	0.89917	1.0;0.382	D;B	0.91635	0.999;0.019	D	0.95204	0.8319	9	0.56958	D	0.05	.	20.161	0.98133	0.0:0.0:1.0:0.0	.	4282;4282	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	M	4282;4282;4132;617	ENSP00000298047:V4282M;ENSP00000387040:V4282M;ENSP00000432586:V4132M;ENSP00000436399:V617M	ENSP00000298047:V4282M	V	+	1	0	FAT3	92256114	1.000000	0.71417	0.992000	0.48379	0.990000	0.78478	9.746000	0.98859	2.770000	0.95276	0.655000	0.94253	GTG		0.657	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		19	333	0	0	0	0.557998	0	19	333				
MEFV	4210	broad.mit.edu	37	16	3299561	3299561	+	Missense_Mutation	SNP	C	C	T	rs144998416		TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr16:3299561C>T	ENST00000219596.1	-	3	1169	c.1130G>A	c.(1129-1131)cGc>cAc	p.R377H	MEFV_ENST00000536379.1_Missense_Mutation_p.R166H|MEFV_ENST00000339854.4_Missense_Mutation_p.R197H|MEFV_ENST00000541159.1_Missense_Mutation_p.R166H	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	377					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)	p.R377H(1)|p.R166H(1)		NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						CTTCAGGTGGCGCTTACACTG	0.647																																						ENST00000219596.1																			2	Substitution - Missense(2)	p.R377H(1)|p.R166H(1)	breast(2)	NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						c.(1129-1131)cGc>cAc		Mediterranean fever	Colchicine(DB01394)	C	HIS/ARG,HIS/ARG	2,4392	4.2+/-10.8	0,2,2195	53.0	47.0	49.0		1130,497	2.4	0.9	16	dbSNP_134	49	0,8600		0,0,4300	no	missense,missense	MEFV	NM_000243.2,NM_001198536.1	29,29	0,2,6495	TT,TC,CC		0.0,0.0455,0.0154	possibly-damaging,possibly-damaging	377/782,166/446	3299561	2,12992	2197	4300	6497	SO:0001583	missense	4210				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	g.chr16:3299561C>T	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"""Tripartite motif containing / Tripartite motif containing"""	6998	protein-coding gene	gene with protein product	"""pyrin"""	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.1130G>A	16.37:g.3299561C>T	ENSP00000219596:p.Arg377His					MEFV_ENST00000536379.1_Missense_Mutation_p.R166H|MEFV_ENST00000541159.1_Missense_Mutation_p.R166H|MEFV_ENST00000339854.4_Missense_Mutation_p.R197H	p.R377H	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN			3	1169	-			377					D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Missense_Mutation	SNP	ENST00000219596.1	37	c.1130G>A	CCDS10498.1	.	.	.	.	.	.	.	.	.	.	C	8.627	0.892888	0.17613	4.55E-4	0.0	ENSG00000103313	ENST00000545159;ENST00000219596;ENST00000339854;ENST00000541159;ENST00000536379;ENST00000534868	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.35	2.37	0.29283	Zinc finger, B-box (3);	0.239831	0.30134	N	0.010337	T	0.27866	0.0686	L	0.37466	1.105	0.09310	N	1	P	0.36199	0.543	B	0.34346	0.18	T	0.12502	-1.0545	10	0.48119	T	0.1	-6.4133	5.7348	0.18061	0.0:0.6702:0.1599:0.1699	.	377	O15553	MEFV_HUMAN	H	377;377;197;166;166;166	ENSP00000219596:R377H;ENSP00000339639:R197H;ENSP00000438711:R166H;ENSP00000445079:R166H	ENSP00000219596:R377H	R	-	2	0	MEFV	3239562	0.000000	0.05858	0.928000	0.36995	0.031000	0.12232	0.044000	0.13992	0.506000	0.28125	-0.740000	0.03531	CGC		0.647	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		21	244	0	0	0	0.608945	0	21	244				
FAM208A	23272	broad.mit.edu	37	3	56662562	56662562	+	Silent	SNP	C	C	T			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr3:56662562C>T	ENST00000493960.2	-	19	3838	c.3828G>A	c.(3826-3828)ttG>ttA	p.L1276L	FAM208A_ENST00000485156.1_5'Flank|FAM208A_ENST00000355628.5_Silent_p.L1215L|FAM208A_ENST00000431842.2_Silent_p.L839L	NM_001112736.1	NP_001106207.1	Q9UK61	F208A_HUMAN	family with sequence similarity 208, member A	1276							poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						GAATAATAATCAATAGTTTAT	0.274																																						ENST00000431842.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						c.(2515-2517)ttG>ttA		family with sequence similarity 208, member A							63.0	68.0	66.0					3																	56662562		2198	4293	6491	SO:0001819	synonymous_variant	23272							g.chr3:56662562C>T	AF180425	CCDS2877.1, CCDS46853.1	3p14.3	2011-09-14	2011-09-14	2011-09-14	ENSG00000163946	ENSG00000163946			30314	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 63"""	C3orf63		10470851, 11149944	Standard	NM_015224		Approved	se89-1, RAP140, KIAA1105	uc003die.4	Q9UK61	OTTHUMG00000158827	ENST00000493960.2:c.3828G>A	3.37:g.56662562C>T						FAM208A_ENST00000355628.5_Silent_p.L1215L|FAM208A_ENST00000493960.2_Silent_p.L1276L	p.L839L	NM_015224.3	NP_056039.2	Q9UK61	CC063_HUMAN			12	3441	-			1276					A1L3A4|B5ME28|Q9H2F7|Q9UPP7	Silent	SNP	ENST00000493960.2	37	c.2517G>A	CCDS46853.1																																																																																				0.274	FAM208A-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352352.2	NM_015224		18	197	0	0	0	0.539581	0	18	197				
KALRN	8997	broad.mit.edu	37	3	124103747	124103747	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr3:124103747C>T	ENST00000240874.3	+	11	1977	c.1820C>T	c.(1819-1821)aCg>aTg	p.T607M	KALRN_ENST00000360013.3_Missense_Mutation_p.T607M|KALRN_ENST00000460856.1_Missense_Mutation_p.T607M	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	607					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TTGGCTCAGACGGGGGAATGT	0.577																																						ENST00000360013.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						c.(1819-1821)aCg>aTg		kalirin, RhoGEF kinase							99.0	83.0	88.0					3																	124103747		2203	4300	6503	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124103747C>T	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.1820C>T	3.37:g.124103747C>T	ENSP00000240874:p.Thr607Met					KALRN_ENST00000460856.1_Missense_Mutation_p.T607M|KALRN_ENST00000240874.3_Missense_Mutation_p.T607M	p.T607M	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN			11	1947	+			607					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	37	c.1820C>T	CCDS3027.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.0|28.0	4.881079|4.881079	0.91740|0.91740	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000354186|ENST00000460856;ENST00000240874;ENST00000360013;ENST00000439170	.|T;T;T;T	.|0.47177	.|0.85;0.85;0.95;0.85	5.13|5.13	5.13|5.13	0.70059|0.70059	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.65354|0.65354	0.2683|0.2683	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;0.999	.|D;D;D	.|0.87578	.|0.982;0.998;0.969	T|T	0.67421|0.67421	-0.5675|-0.5675	5|10	.|0.87932	.|D	.|0	.|.	18.7751|18.7751	0.91908|0.91908	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|607;607;607	.|C9IZQ6;O60229;O60229-2	.|.;KALRN_HUMAN;.	W|M	585|607;607;607;83	.|ENSP00000418611:T607M;ENSP00000240874:T607M;ENSP00000353109:T607M;ENSP00000402950:T83M	.|ENSP00000240874:T607M	R|T	+|+	1|2	2|0	KALRN|KALRN	125586437|125586437	1.000000|1.000000	0.71417|0.71417	0.960000|0.960000	0.40013|0.40013	0.992000|0.992000	0.81027|0.81027	7.606000|7.606000	0.82863|0.82863	2.652000|2.652000	0.90054|0.90054	0.655000|0.655000	0.94253|0.94253	CGG|ACG		0.577	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		12	384	0	0	0	0.387290	0	12	384				
REM1	28954	broad.mit.edu	37	20	30064350	30064350	+	Silent	SNP	C	C	T			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr20:30064350C>T	ENST00000201979.2	+	2	395	c.102C>T	c.(100-102)agC>agT	p.S34S	DEFB124_ENST00000481595.1_Intron	NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	RAS (RAD and GEM)-like GTP-binding 1	34					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)	p.S34R(2)		kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			GCCGCCTGAGCACAGTGCCTT	0.642																																						ENST00000201979.2																			2	Substitution - Missense(2)	p.S34R(2)	kidney(2)	kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23						c.(100-102)agC>agT		RAS (RAD and GEM)-like GTP-binding 1							79.0	87.0	84.0					20																	30064350		2203	4300	6503	SO:0001819	synonymous_variant	28954				small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity	g.chr20:30064350C>T	AF152863	CCDS13181.1	20q11.21	2014-05-09	2004-04-14	2004-04-16	ENSG00000088320	ENSG00000088320			15922	protein-coding gene	gene with protein product	"""GTPase GES"""	610388	"""RAS (RAD and GEM)-like GTP-binding"""	REM		10831614, 14623965	Standard	NM_014012		Approved	GES	uc002wwa.3	O75628	OTTHUMG00000032168	ENST00000201979.2:c.102C>T	20.37:g.30064350C>T						DEFB124_ENST00000481595.1_Intron	p.S34S	NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		2	395	+	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		34					E1P5L1|Q5TZR7|Q5TZR8|Q9NP57	Silent	SNP	ENST00000201979.2	37	c.102C>T	CCDS13181.1																																																																																				0.642	REM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078508.2	NM_014012		40	375	0	0	0	0.804634	0	40	375				
CPA2	1358	broad.mit.edu	37	7	129909574	129909574	+	Silent	SNP	C	C	T	rs377057816	byFrequency	TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr7:129909574C>T	ENST00000222481.4	+	3	274	c.219C>T	c.(217-219)aaC>aaT	p.N73N		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	73					protein catabolic process in the vacuole (GO:0007039)	extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					CCTTCGTCAACGTCCAGGCAG	0.502													C|||	5	0.000998403	0.0	0.0	5008	,	,		20494	0.0		0.0	False		,,,				2504	0.0051					ENST00000222481.4																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(217-219)aaC>aaT		carboxypeptidase A2 (pancreatic)							157.0	129.0	139.0					7																	129909574		2203	4300	6503	SO:0001819	synonymous_variant	1358				proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding	g.chr7:129909574C>T	U19977	CCDS5817.2	7q32	2012-02-10			ENSG00000158516	ENSG00000158516	3.4.17.15		2297	protein-coding gene	gene with protein product		600688				7896805, 10860668	Standard	NM_001869		Approved		uc003vpq.3	P48052	OTTHUMG00000157019	ENST00000222481.4:c.219C>T	7.37:g.129909574C>T							p.N73N	NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN			3	274	+	Melanoma(18;0.0435)		73					A4D1M4|C9JIK1|Q53XS1|Q96A12|Q96QN3|Q9UCF1	Silent	SNP	ENST00000222481.4	37	c.219C>T	CCDS5817.2																																																																																				0.502	CPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347124.2	NM_001869		20	351	0	0	0	0.557998	0	20	351				
NR2F1	7025	broad.mit.edu	37	5	92923762	92923762	+	Silent	SNP	G	G	A			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr5:92923762G>A	ENST00000327111.3	+	2	2290	c.603G>A	c.(601-603)tcG>tcA	p.S201S	NR2F1-AS1_ENST00000513055.1_RNA	NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	201					cerebral cortex regionalization (GO:0021796)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|retinoic acid-responsive element binding (GO:0044323)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		ACCCCACGTCGCGCTACGGCA	0.667																																						ENST00000327111.3																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21						c.(601-603)tcG>tcA		nuclear receptor subfamily 2, group F, member 1							61.0	61.0	61.0					5																	92923762		2203	4299	6502	SO:0001819	synonymous_variant	7025				negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding	g.chr5:92923762G>A	BC004154	CCDS4068.1	5q14	2013-01-16			ENSG00000175745	ENSG00000175745		"""Nuclear hormone receptors"""	7975	protein-coding gene	gene with protein product		132890		ERBAL3, TFCOUP1		8530078	Standard	NM_005654		Approved	EAR-3, COUP-TFI, TCFCOUP1, SVP44	uc003kkj.3	P10589	OTTHUMG00000119079	ENST00000327111.3:c.603G>A	5.37:g.92923762G>A							p.S201S	NM_005654.4	NP_005645.1	P10589	COT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)	2	2290	+		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)	201						Silent	SNP	ENST00000327111.3	37	c.603G>A	CCDS4068.1																																																																																				0.667	NR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239293.2	NM_005654		14	393	0	0	0	0.520397	0	14	393				
LINC00264	645528	broad.mit.edu	37	10	26880338	26880338	+	lincRNA	SNP	G	G	C	rs3118888		TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr10:26880338G>C	ENST00000412114.1	+	0	573					NR_026793.1				long intergenic non-protein coding RNA 264																		GCTGAAACATGGAAGGTAAAA	0.483																																						ENST00000412114.1																			0																																																			0							g.chr10:26880338G>C			10p12.1	2012-10-12	2011-08-11	2011-08-11	ENSG00000233261	ENSG00000233261		"""Long non-coding RNAs"""	17776	non-coding RNA	RNA, long non-coding			"""chromosome 10 open reading frame 50"", ""non-protein coding RNA 264"""	C10orf50, NCRNA00264			Standard	NR_026793		Approved	bA128B16.2	uc001ist.3		OTTHUMG00000017839		10.37:g.26880338G>C								NR_026793.1						0	573	+									RNA	SNP	ENST00000412114.1	37																																																																																						0.483	LINC00264-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000047265.1	XR_040540		5	127	0	0	0	0.184627	0	5	127				
TTC30A	92104	broad.mit.edu	37	2	178482747	178482747	+	Missense_Mutation	SNP	C	C	T	rs576095208		TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr2:178482747C>T	ENST00000355689.5	-	1	947	c.683G>A	c.(682-684)gGc>gAc	p.G228D	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	228					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			GGTGGTCATGCCCACACCTAG	0.527																																						ENST00000355689.4																			0				autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(682-684)gGc>gAc		tetratricopeptide repeat domain 30A							80.0	78.0	79.0					2																	178482747		2203	4300	6503	SO:0001583	missense	92104				cell projection organization	cilium	binding	g.chr2:178482747C>T	AK024008	CCDS2276.1	2q31.2	2013-01-11			ENSG00000197557	ENSG00000197557		"""Tetratricopeptide (TTC) repeat domain containing"""	25853	protein-coding gene	gene with protein product						12477932	Standard	NM_152275		Approved	FLJ13946	uc002ulo.3	Q86WT1	OTTHUMG00000132528	ENST00000355689.5:c.683G>A	2.37:g.178482747C>T	ENSP00000347915:p.Gly228Asp					AC073834.3_ENST00000357045.4_RNA	p.G228D	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)		1	947	-			228					A8K8N0|Q8IVP2	Missense_Mutation	SNP	ENST00000355689.5	37	c.683G>A	CCDS2276.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.365539	0.82463	.	.	ENSG00000197557	ENST00000355689	T	0.25085	1.82	5.78	5.78	0.91487	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.63663	0.2530	M	0.92077	3.27	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.71902	-0.4452	10	0.87932	D	0	.	20.0827	0.97786	0.0:1.0:0.0:0.0	.	228	Q86WT1	TT30A_HUMAN	D	228	ENSP00000347915:G228D	ENSP00000347915:G228D	G	-	2	0	TTC30A	178190993	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.826000	0.69293	2.755000	0.94549	0.549000	0.68633	GGC		0.527	TTC30A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255728.2	NM_152275		5	302	0	0	0	0.217242	0	5	302				
UBR4	23352	broad.mit.edu	37	1	19455510	19455510	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr1:19455510G>A	ENST00000375254.3	-	61	8992	c.8965C>T	c.(8965-8967)Cga>Tga	p.R2989*	UBR4_ENST00000375226.2_Nonsense_Mutation_p.R2965*|UBR4_ENST00000375267.2_Nonsense_Mutation_p.R2989*|UBR4_ENST00000375217.2_Nonsense_Mutation_p.R2982*	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2989					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CCAACGTTTCGTAATTGAGGC	0.502																																						ENST00000375267.2																			0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(8965-8967)Cga>Tga		ubiquitin protein ligase E3 component n-recognin 4							146.0	122.0	130.0					1																	19455510		2203	4300	6503	SO:0001587	stop_gained	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19455510G>A	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.8965C>T	1.37:g.19455510G>A	ENSP00000364403:p.Arg2989*					UBR4_ENST00000375226.2_Nonsense_Mutation_p.R2965*|UBR4_ENST00000375254.3_Nonsense_Mutation_p.R2989*|UBR4_ENST00000375217.2_Nonsense_Mutation_p.R2982*	p.R2989*			Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	61	8968	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	2989					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Nonsense_Mutation	SNP	ENST00000375254.3	37	c.8965C>T	CCDS189.1	.	.	.	.	.	.	.	.	.	.	G	41	9.027136	0.99040	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000425413;ENST00000417040	.	.	.	5.43	4.51	0.55191	.	0.061993	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05351	T	0.99	.	13.3492	0.60593	0.0:0.0:0.6586:0.3414	.	.	.	.	X	2989;2989;2982;2965;597;1675	.	ENSP00000364365:R2982X	R	-	1	2	UBR4	19328097	1.000000	0.71417	0.999000	0.59377	0.285000	0.27093	4.918000	0.63376	1.256000	0.44068	0.467000	0.42956	CGA		0.502	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		23	433	0	0	0	0.639603	0	23	433				
PTPRM	5797	broad.mit.edu	37	18	7774244	7774244	+	Silent	SNP	G	G	A	rs145799313		TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr18:7774244G>A	ENST00000332175.8	+	2	1208	c.171G>A	c.(169-171)ccG>ccA	p.P57P	PTPRM_ENST00000400053.4_5'UTR|PTPRM_ENST00000400060.4_Silent_p.P57P|PTPRM_ENST00000580170.1_Silent_p.P57P	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	57	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				TGACTAAACCGACTTCTGATC	0.403																																						ENST00000332175.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90						c.(169-171)ccG>ccA		protein tyrosine phosphatase, receptor type, M		G	,	0,4406		0,0,2203	203.0	180.0	188.0		171,171	-6.0	1.0	18	dbSNP_134	188	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	PTPRM	NM_001105244.1,NM_002845.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	57/1466,57/1453	7774244	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5797				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr18:7774244G>A	X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.171G>A	18.37:g.7774244G>A						PTPRM_ENST00000580170.1_Silent_p.P57P|PTPRM_ENST00000400053.4_5'UTR|PTPRM_ENST00000400060.4_Silent_p.P57P	p.P57P	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN			2	1208	+		Colorectal(10;0.234)	57			MAM.		A7MBN1|D3DUH8|J3QL11	Silent	SNP	ENST00000332175.8	37	c.171G>A	CCDS11840.1																																																																																				0.403	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			12	444	0	0	0	0.479597	0	12	444				
COL5A1	1289	broad.mit.edu	37	9	137593108	137593108	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr9:137593108G>A	ENST00000371817.3	+	4	997	c.583G>A	c.(583-585)Gac>Aac	p.D195N	COL5A1_ENST00000464187.1_3'UTR	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	195	Laminin G-like.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CGACCGCAGCGACCACCCCAT	0.527																																						ENST00000371817.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(583-585)Gac>Aac		collagen, type V, alpha 1							170.0	124.0	140.0					9																	137593108		2202	4300	6502	SO:0001583	missense	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137593108G>A	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.583G>A	9.37:g.137593108G>A	ENSP00000360882:p.Asp195Asn					COL5A1_ENST00000464187.1_3'UTR	p.D195N	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	4	997	+		Myeloproliferative disorder(178;0.0341)	195			Laminin G-like.|TSP N-terminal.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.583G>A	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	G	10.35	1.324920	0.24080	.	.	ENSG00000130635	ENST00000371817	T	0.02050	4.48	5.07	3.16	0.36331	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);Laminin G, subdomain 2 (1);	0.148628	0.45361	U	0.000371	T	0.02119	0.0066	L	0.31294	0.92	0.31583	N	0.654905	B	0.14012	0.009	B	0.12837	0.008	T	0.24333	-1.0163	10	0.21014	T	0.42	.	11.1493	0.48449	0.1571:0.0:0.8429:0.0	.	195	P20908	CO5A1_HUMAN	N	195	ENSP00000360882:D195N	ENSP00000360882:D195N	D	+	1	0	COL5A1	136732929	0.904000	0.30761	0.486000	0.27416	0.501000	0.33797	1.332000	0.33805	0.585000	0.29608	0.591000	0.81541	GAC		0.527	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		9	135	0	0	0	0.335167	0	9	135				
NCOA6	23054	broad.mit.edu	37	20	33324555	33324555	+	Silent	SNP	C	C	A	rs376017471		TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr20:33324555C>A	ENST00000374796.2	-	13	8471	c.5901G>T	c.(5899-5901)tcG>tcT	p.S1967S	NCOA6_ENST00000359003.2_Silent_p.S1967S			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1967	EP300/CRSP3-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CTAAATTCTGCGACGGGGCTA	0.418																																						ENST00000374796.2																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(5899-5901)tcG>tcT		nuclear receptor coactivator 6							72.0	66.0	68.0					20																	33324555		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33324555C>A	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.5901G>T	20.37:g.33324555C>A						NCOA6_ENST00000359003.2_Silent_p.S1967S	p.S1967S			Q14686	NCOA6_HUMAN			13	8471	-			1967			EP300/CRSP3-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.5901G>T	CCDS13241.1																																																																																				0.418	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		19	181	1	0	3.99206e-14	0.557998	4.4849e-14	19	181				
FBXW11	23291	broad.mit.edu	37	5	171303381	171303381	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr5:171303381G>A	ENST00000265094.5	-	8	1203	c.1066C>T	c.(1066-1068)Cgc>Tgc	p.R356C	FBXW11_ENST00000296933.6_Missense_Mutation_p.R343C|FBXW11_ENST00000425623.2_Missense_Mutation_p.R324C|FBXW11_ENST00000393802.2_Missense_Mutation_p.R322C|FBXW11_ENST00000522891.1_5'Flank	NM_012300.2	NP_036432.2	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11	356					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGGACACGGCGTAAAGTGATG	0.522																																						ENST00000296933.6																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21						c.(1027-1029)Cgc>Tgc		F-box and WD repeat domain containing 11							112.0	78.0	89.0					5																	171303381		2203	4300	6503	SO:0001583	missense	23291				cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	centrosome|cytosol|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:171303381G>A	AB014596	CCDS34289.1, CCDS47340.1, CCDS47341.1	5q35.1	2013-01-09	2007-02-08	2004-06-16	ENSG00000072803	ENSG00000072803		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13607	protein-coding gene	gene with protein product		605651	"""F-box and WD-40 domain protein 1B"", ""F-box and WD-40 domain protein 11"""	FBXW1B		10531035, 10694485	Standard	NM_033644		Approved	KIAA0696, Fbw1b, BTRCP2, BTRC2, Hos, Fbw11	uc003mbm.1	Q9UKB1	OTTHUMG00000163267	ENST00000265094.5:c.1066C>T	5.37:g.171303381G>A	ENSP00000265094:p.Arg356Cys					FBXW11_ENST00000265094.5_Missense_Mutation_p.R356C|FBXW11_ENST00000425623.2_Missense_Mutation_p.R324C|FBXW11_ENST00000393802.2_Missense_Mutation_p.R322C	p.R343C	NM_033644.2|NM_033645.2	NP_387448.2|NP_387449.2	Q9UKB1	FBW1B_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		8	1397	-	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	356					B2RC98|Q9P2S8|Q9P2S9|Q9Y4C6	Missense_Mutation	SNP	ENST00000265094.5	37	c.1027C>T	CCDS34289.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.571419	0.86542	.	.	ENSG00000072803	ENST00000296933;ENST00000265094;ENST00000393802;ENST00000425623	T;T;T;T	0.36157	1.27;2.21;1.27;1.27	5.29	4.42	0.53409	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.47340	0.1440	L	0.31157	0.91	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;0.999	D;D;D;D	0.73380	0.914;0.951;0.98;0.954	T	0.51116	-0.8746	10	0.87932	D	0	-10.1145	14.1428	0.65331	0.0732:0.0:0.9268:0.0	.	324;322;356;343	B4DH70;Q9UKB1-2;Q9UKB1;Q9UKB1-3	.;.;FBW1B_HUMAN;.	C	343;356;322;324	ENSP00000296933:R343C;ENSP00000265094:R356C;ENSP00000377391:R322C;ENSP00000444929:R324C	ENSP00000265094:R356C	R	-	1	0	FBXW11	171235986	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.777000	0.85628	1.378000	0.46305	0.650000	0.86243	CGC		0.522	FBXW11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000372382.1	NM_012300		4	131	0	0	0	0.150653	0	4	131				
MMP9	4318	broad.mit.edu	37	20	44641961	44641961	+	Silent	SNP	G	G	A			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr20:44641961G>A	ENST00000372330.3	+	9	1417	c.1398G>A	c.(1396-1398)acG>acA	p.T466T	RP11-465L10.10_ENST00000535913.1_RNA	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	466					collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|macrophage differentiation (GO:0030225)|negative regulation of cation channel activity (GO:2001258)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of receptor binding (GO:1900122)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|identical protein binding (GO:0042802)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Captopril(DB01197)|Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)	CTCCCCCGACGGTCTGCCCCA	0.687											OREG0025990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000372330.3																			0				breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46						c.(1396-1398)acG>acA		matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)						42.0	57.0	52.0					20																	44641961		2185	4275	6460	SO:0001819	synonymous_variant	4318				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding	g.chr20:44641961G>A		CCDS13390.1	20q12-q13	2008-01-07	2005-08-08		ENSG00000100985	ENSG00000100985	3.4.24.35		7176	protein-coding gene	gene with protein product		120361	"""matrix metalloproteinase 9 (gelatinase B, 92kD gelatinase, 92kD type IV collagenase)"", ""matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)"""	CLG4B		2158484	Standard	NM_004994		Approved		uc002xqz.3	P14780	OTTHUMG00000033044	ENST00000372330.3:c.1398G>A	20.37:g.44641961G>A			OREG0025990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	925		p.T466T	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN			9	1417	+		Myeloproliferative disorder(115;0.0122)	466					B2R7V9|Q3LR70|Q8N725|Q9H4Z1|Q9UCJ9|Q9UCL1|Q9UDK2	Silent	SNP	ENST00000372330.3	37	c.1398G>A	CCDS13390.1																																																																																				0.687	MMP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080337.1			46	463	0	0	0	0.870114	0	46	463				
TRIM40	135644	broad.mit.edu	37	6	30104878	30104878	+	Missense_Mutation	SNP	A	A	G			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr6:30104878A>G	ENST00000396581.1	+	2	451	c.65A>G	c.(64-66)aAg>aGg	p.K22R	TRIM40_ENST00000307859.4_Missense_Mutation_p.K22R|TRIM40_ENST00000376724.2_Missense_Mutation_p.K22R|TRIM40_ENST00000489892.1_3'UTR			Q6P9F5	TRI40_HUMAN	tripartite motif containing 40	22					negative regulation of cell growth (GO:0030308)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein localization to nucleus (GO:1900181)|protein neddylation (GO:0045116)	IkappaB kinase complex (GO:0008385)	zinc ion binding (GO:0008270)			ovary(1)	1						GAGAGCCTGAAGGAGGCCGTG	0.602																																						ENST00000396581.1																			0				ovary(1)	1						c.(64-66)aAg>aGg		tripartite motif containing 40							89.0	71.0	78.0					6																	30104878		1510	2708	4218	SO:0001583	missense	135644					intracellular	zinc ion binding	g.chr6:30104878A>G	AF489517	CCDS4675.1, CCDS69069.1	6p21.31	2013-01-09	2011-01-25		ENSG00000204614	ENSG00000204614		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	18736	protein-coding gene	gene with protein product			"""tripartite motif-containing 40"""				Standard	NM_138700		Approved	RNF35	uc003npm.2	Q6P9F5	OTTHUMG00000031083	ENST00000396581.1:c.65A>G	6.37:g.30104878A>G	ENSP00000379826:p.Lys22Arg					TRIM40_ENST00000376724.2_Missense_Mutation_p.K22R|TRIM40_ENST00000307859.4_Missense_Mutation_p.K22R|TRIM40_ENST00000489892.1_3'UTR	p.K22R			Q6P9F5	TRI40_HUMAN			2	451	+			22					Q5SRJ6|Q5SS36|Q8TD96	Missense_Mutation	SNP	ENST00000396581.1	37	c.65A>G		.	.	.	.	.	.	.	.	.	.	A	13.79	2.340933	0.41498	.	.	ENSG00000204614	ENST00000396581;ENST00000376724;ENST00000307859	D;D;D	0.83837	-1.77;-1.77;-1.77	4.81	1.02	0.19986	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.305411	0.23558	N	0.046897	T	0.50786	0.1636	N	0.11154	0.105	0.23563	N	0.997408	D;P	0.52996	0.957;0.905	P;B	0.55785	0.784;0.416	T	0.57906	-0.7730	10	0.07644	T	0.81	.	3.135	0.06436	0.5417:0.2213:0.237:0.0	.	22;22	Q5SRJ6;Q6P9F5	.;TRI40_HUMAN	R	22	ENSP00000379826:K22R;ENSP00000365914:K22R;ENSP00000308310:K22R	ENSP00000308310:K22R	K	+	2	0	TRIM40	30212857	0.827000	0.29292	0.985000	0.45067	0.943000	0.58893	0.053000	0.14184	0.315000	0.23110	0.467000	0.42956	AAG		0.602	TRIM40-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000076117.2			8	290	0	0	0	0.278610	0	8	290				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522772	95522772	+	RNA	SNP	T	T	C	rs368571207		TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr2:95522772T>C	ENST00000432432.2	-	0	255					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene									p.E49G(1)									GCGCTCCACCTCCGCGGCGTC	0.682																																						ENST00000432432.2																			1	Substitution - Missense(1)	p.E49G(1)	kidney(1)																																																0							g.chr2:95522772T>C			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522772T>C								NR_040113.1						0	255	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.682	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			4	259	0	0	0	0.435327	0	4	259				
QKI	9444	broad.mit.edu	37	6	163987788	163987788	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr6:163987788C>T	ENST00000361752.3	+	7	1521	c.970C>T	c.(970-972)Cgt>Tgt	p.R324C	QKI_ENST00000275262.7_3'UTR|QKI_ENST00000453779.2_3'UTR|QKI_ENST00000392127.2_3'UTR|QKI_ENST00000361195.2_Missense_Mutation_p.R316C	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN	QKI, KH domain containing, RNA binding	324					long-chain fatty acid biosynthetic process (GO:0042759)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|muscle cell differentiation (GO:0042692)|myelination (GO:0042552)|positive regulation of gene expression (GO:0010628)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|spermatid development (GO:0007286)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		GCACGATATGCGTGTCCATCC	0.413																																						ENST00000361752.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27						c.(970-972)Cgt>Tgt		QKI, KH domain containing, RNA binding							132.0	111.0	118.0					6																	163987788		2203	4300	6503	SO:0001583	missense	9444				mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding	g.chr6:163987788C>T	AB067798	CCDS5285.1, CCDS5286.1, CCDS5287.1, CCDS43525.1, CCDS75546.1	6q26	2011-09-12	2011-09-12		ENSG00000112531	ENSG00000112531			21100	protein-coding gene	gene with protein product		609590	"""quaking homolog, KH domain RNA binding (mouse)"""			10535969	Standard	NM_006775		Approved	QK3	uc003qui.3	Q96PU8	OTTHUMG00000015977	ENST00000361752.3:c.970C>T	6.37:g.163987788C>T	ENSP00000355094:p.Arg324Cys					QKI_ENST00000361195.2_Missense_Mutation_p.R316C|QKI_ENST00000392127.2_3'UTR|QKI_ENST00000453779.2_3'UTR|QKI_ENST00000275262.7_3'UTR	p.R324C	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)	7	1521	+		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)	324					Q2I375|Q5MJQ1|Q969L9|Q96EJ3|Q96KA3|Q96PU6|Q96PU7|Q9P0X6|Q9P0X7|Q9P0X8|Q9P0X9|Q9P0Y0|Q9P0Y1	Missense_Mutation	SNP	ENST00000361752.3	37	c.970C>T	CCDS5285.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.39|14.39	2.519896|2.519896	0.44866|0.44866	.|.	.|.	ENSG00000112531|ENSG00000112531	ENST00000537883;ENST00000544361|ENST00000361752;ENST00000361195	.|.	.|.	.|.	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	.|0.101633	.|0.64402	.|D	.|0.000002	T|T	0.73337|0.73337	0.3574|0.3574	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	.|D;B	.|0.89917	.|1.0;0.322	.|D;B	.|0.79108	.|0.992;0.041	T|T	0.74137|0.74137	-0.3762|-0.3762	5|9	.|0.87932	.|D	.|0	-1.504|-1.504	20.1358|20.1358	0.98028|0.98028	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|316;324	.|Q96PU8-3;Q96PU8	.|.;QKI_HUMAN	V|C	220;157|324;316	.|.	.|ENSP00000354867:R316C	A|R	+|+	2|1	0|0	QKI|QKI	163907778|163907778	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.445000|7.445000	0.80570|0.80570	2.833000|2.833000	0.97629|0.97629	0.585000|0.585000	0.79938|0.79938	GCG|CGT		0.413	QKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043016.2	NM_006775		10	156	0	0	0	0.361761	0	10	156				
SGK2	10110	broad.mit.edu	37	20	42198157	42198157	+	Splice_Site	SNP	G	G	T			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr20:42198157G>T	ENST00000341458.4	+	5	759		c.e5+1		SGK2_ENST00000423407.3_Splice_Site|SGK2_ENST00000426287.1_Splice_Site|SGK2_ENST00000373077.1_Splice_Site|SGK2_ENST00000373100.1_Splice_Site|SGK2_ENST00000373092.3_Splice_Site|SGK2_ENST00000485914.1_Splice_Site	NM_016276.3	NP_057360.2	Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2						intracellular signal transduction (GO:0035556)|ion transmembrane transport (GO:0034220)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|sodium channel regulator activity (GO:0017080)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CGGGGGAGAGGTGGGTGGGCC	0.607																																						ENST00000373100.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.e7+1		serum/glucocorticoid regulated kinase 2							55.0	46.0	49.0					20																	42198157		2203	4300	6503	SO:0001630	splice_region_variant	10110				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity	g.chr20:42198157G>T	AF169034	CCDS13320.1, CCDS13321.1	20q13.2	2008-07-04			ENSG00000101049	ENSG00000101049			13900	protein-coding gene	gene with protein product		607589				10548550	Standard	NM_016276		Approved		uc002xkv.3	Q9HBY8	OTTHUMG00000033054	ENST00000341458.4:c.540+1G>T	20.37:g.42198157G>T						SGK2_ENST00000373092.3_Splice_Site|SGK2_ENST00000485914.1_Splice_Site|SGK2_ENST00000341458.4_Splice_Site|SGK2_ENST00000426287.1_Splice_Site|SGK2_ENST00000373077.1_Splice_Site|SGK2_ENST00000423407.3_Splice_Site				Q9HBY8	SGK2_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		7	820	+		Myeloproliferative disorder(115;0.00452)						Q52PK5|Q5H8Y6|Q5H8Z1|Q5TZR3|Q9UKG6	Splice_Site	SNP	ENST00000341458.4	37		CCDS13320.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.973412	0.74246	.	.	ENSG00000101049	ENST00000373100;ENST00000373092;ENST00000373077;ENST00000412111;ENST00000423407;ENST00000341458;ENST00000426287	.	.	.	4.24	4.24	0.50183	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2977	0.82784	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SGK2	41631571	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.779000	0.99018	2.309000	0.77851	0.555000	0.69702	.		0.607	SGK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080383.1		Intron	19	287	1	0	3.83957e-06	0.639603	4.1106e-06	19	287				
RPGRIP1	57096	broad.mit.edu	37	14	21792810	21792810	+	Missense_Mutation	SNP	C	C	T	rs368192802	byFrequency	TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr14:21792810C>T	ENST00000400017.2	+	14	1796	c.1796C>T	c.(1795-1797)cCg>cTg	p.P599L	RPGRIP1_ENST00000553500.1_3'UTR|RPGRIP1_ENST00000307974.4_Missense_Mutation_p.R8C|RPGRIP1_ENST00000382933.4_Intron|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.P561L|RPGRIP1_ENST00000206660.6_Missense_Mutation_p.P599L|RPGRIP1_ENST00000556336.1_Intron	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	599					eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		GGCACCCGACCGTTGTCGTTA	0.473													c|||	5	0.000998403	0.003	0.0	5008	,	,		21157	0.0		0.0	False		,,,				2504	0.001					ENST00000206660.6																			0				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39						c.(1795-1797)cCg>cTg		retinitis pigmentosa GTPase regulator interacting protein 1		C	LEU/PRO	6,3922		0,6,1958	123.0	116.0	118.0		1796	-1.5	0.1	14		118	0,8284		0,0,4142	no	missense	RPGRIP1	NM_020366.3	98	0,6,6100	TT,TC,CC		0.0,0.1527,0.0491	benign	599/1287	21792810	6,12206	1964	4142	6106	SO:0001583	missense	57096				response to stimulus|visual perception	cilium		g.chr14:21792810C>T	AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.1796C>T	14.37:g.21792810C>T	ENSP00000382895:p.Pro599Leu					RPGRIP1_ENST00000400017.2_Missense_Mutation_p.P599L|RPGRIP1_ENST00000382933.4_Intron|RPGRIP1_ENST00000307974.4_Missense_Mutation_p.R8C|RPGRIP1_ENST00000556336.1_Intron|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.P561L|RPGRIP1_ENST00000553500.1_3'UTR	p.P599L			Q96KN7	RPGR1_HUMAN	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)	14	1796	+	all_cancers(95;0.0017)	all_cancers(140;0.0973)	599					Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Missense_Mutation	SNP	ENST00000400017.2	37	c.1796C>T	CCDS45080.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	10.75|10.75	1.437319|1.437319	0.25900|0.25900	0.001527|0.001527	0.0|0.0	ENSG00000092200|ENSG00000092200	ENST00000557771;ENST00000400017;ENST00000206660;ENST00000555587;ENST00000554303|ENST00000307974	T;T;T;T;T|T	0.79454|0.79653	-0.9;-0.88;-0.88;-1.14;-1.27|-1.29	5.29|5.29	-1.47|-1.47	0.08772|0.08772	.|.	0.526964|.	0.21177|.	N|.	0.078886|.	T|T	0.65595|0.65595	0.2706|0.2706	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	B;B;B|P	0.10296|0.43094	0.0;0.0;0.003|0.799	B;B;B|B	0.04013|0.37780	0.001;0.001;0.001|0.258	T|T	0.56553|0.56553	-0.7960|-0.7960	10|9	0.37606|0.51188	T|T	0.19|0.08	-0.1041|-0.1041	7.2582|7.2582	0.26189|0.26189	0.2885:0.5442:0.1673:0.0|0.2885:0.5442:0.1673:0.0	.|.	74;215;599|8	G3V3I7;Q96KN7-5;Q96KN7|Q96KN7-3	.;.;RPGR1_HUMAN|.	L|C	561;599;599;74;61|8	ENSP00000451219:P561L;ENSP00000382895:P599L;ENSP00000206660:P599L;ENSP00000451262:P74L;ENSP00000450426:P61L|ENSP00000309721:R8C	ENSP00000206660:P599L|ENSP00000309721:R8C	P|R	+|+	2|1	0|0	RPGRIP1|RPGRIP1	20862650|20862650	0.000000|0.000000	0.05858|0.05858	0.083000|0.083000	0.20561|0.20561	0.971000|0.971000	0.66376|0.66376	-0.830000|-0.830000	0.04410|0.04410	-0.128000|-0.128000	0.11641|0.11641	-0.259000|-0.259000	0.10710|0.10710	CCG|CGT		0.473	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410258.1	NM_020366		15	419	0	0	0	0.500413	0	15	419				
RGS21	431704	broad.mit.edu	37	1	192321195	192321195	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr1:192321195G>A	ENST00000417209.2	+	4	281	c.107G>A	c.(106-108)cGa>cAa	p.R36Q		NM_001039152.3	NP_001034241.1	Q2M5E4	RGS21_HUMAN	regulator of G-protein signaling 21	36	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	15						GATGCTTTTCGAATATTTCTA	0.299																																						ENST00000417209.2																			0				NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	15						c.(106-108)cGa>cAa		regulator of G-protein signaling 21							56.0	53.0	54.0					1																	192321195		1801	4075	5876	SO:0001583	missense	431704				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr1:192321195G>A	AY643711	CCDS41448.1	1q31.2	2013-09-24	2007-08-14		ENSG00000253148	ENSG00000253148		"""Regulators of G-protein signaling"""	26839	protein-coding gene	gene with protein product		612407	"""regulator of G-protein signalling 21"""			15066150	Standard	NM_001039152		Approved		uc001gsh.3	Q2M5E4	OTTHUMG00000035594	ENST00000417209.2:c.107G>A	1.37:g.192321195G>A	ENSP00000428343:p.Arg36Gln						p.R36Q	NM_001039152.3	NP_001034241.1	Q2M5E4	RGS21_HUMAN			4	281	+			36			RGS.			Missense_Mutation	SNP	ENST00000417209.2	37	c.107G>A	CCDS41448.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.731842	0.48939	.	.	ENSG00000253148	ENST00000417209	T	0.02345	4.33	5.77	4.85	0.62838	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);Regulator of G-protein signaling, domain 1 (1);	0.000000	0.31859	U	0.006944	T	0.04092	0.0114	L	0.49513	1.565	0.30984	N	0.722202	B	0.27823	0.19	B	0.22152	0.038	T	0.04678	-1.0934	10	0.34782	T	0.22	.	13.7828	0.63091	0.0749:0.0:0.9251:0.0	.	36	Q2M5E4	RGS21_HUMAN	Q	36	ENSP00000428343:R36Q	ENSP00000428343:R36Q	R	+	2	0	RGS21	190587818	0.998000	0.40836	1.000000	0.80357	0.992000	0.81027	3.432000	0.52824	1.439000	0.47511	0.557000	0.71058	CGA		0.299	RGS21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086387.2			17	158	0	0	0	0.575678	0	17	158				
CNTN5	53942	broad.mit.edu	37	11	100141958	100141958	+	Missense_Mutation	SNP	C	C	T	rs370172429		TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr11:100141958C>T	ENST00000524871.1	+	18	2589	c.2299C>T	c.(2299-2301)Cgc>Tgc	p.R767C	CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000528682.1_Missense_Mutation_p.R767C|CNTN5_ENST00000279463.3_Missense_Mutation_p.R767C|CNTN5_ENST00000527185.1_Missense_Mutation_p.R767C|CNTN5_ENST00000418526.2_Missense_Mutation_p.R693C	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	767	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TCGAATGATCCGCACAAATGA	0.443													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16249	0.0		0.0	False		,,,				2504	0.0					ENST00000524871.1																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(2299-2301)Cgc>Tgc		contactin 5		C	CYS/ARG,CYS/ARG	1,3835		0,1,1917	87.0	85.0	85.0		2299,2077	5.5	1.0	11		85	0,8262		0,0,4131	no	missense,missense	CNTN5	NM_014361.3,NM_175566.2	180,180	0,1,6048	TT,TC,CC		0.0,0.0261,0.0083	probably-damaging,probably-damaging	767/1101,693/1027	100141958	1,12097	1918	4131	6049	SO:0001583	missense	53942				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:100141958C>T	AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.2299C>T	11.37:g.100141958C>T	ENSP00000435637:p.Arg767Cys					CNTN5_ENST00000279463.3_Missense_Mutation_p.R767C|CNTN5_ENST00000418526.2_Missense_Mutation_p.R693C|CNTN5_ENST00000528682.1_Missense_Mutation_p.R767C|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000527185.1_Missense_Mutation_p.R767C	p.R767C	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	18	2589	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	767					A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	ENST00000524871.1	37	c.2299C>T	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	C	17.51	3.408139	0.62399	2.61E-4	0.0	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42	5.51	5.51	0.81932	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.76140	0.3946	M	0.90705	3.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.80668	-0.1280	10	0.87932	D	0	.	12.1217	0.53895	0.2713:0.7287:0.0:0.0	.	693;767	O94779-2;O94779	.;CNTN5_HUMAN	C	767;767;767;693;767	ENSP00000433575:R767C;ENSP00000436185:R767C;ENSP00000435637:R767C;ENSP00000393229:R693C;ENSP00000279463:R767C	ENSP00000279463:R767C	R	+	1	0	CNTN5	99647168	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.394000	0.44450	2.590000	0.87494	0.467000	0.42956	CGC		0.443	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		4	137	0	0	0	0.150653	0	4	137				
LILRA1	11024	broad.mit.edu	37	19	55106342	55106342	+	Missense_Mutation	SNP	C	C	T	rs372024491	byFrequency	TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr19:55106342C>T	ENST00000251372.3	+	4	465	c.283C>T	c.(283-285)Cgg>Tgg	p.R95W	LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000453777.1_Missense_Mutation_p.R95W|LILRB1_ENST00000396321.2_Intron	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	95	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		ACACACAGGGCGGTATCGCTG	0.572													c|||	2	0.000399361	0.0	0.0	5008	,	,		19200	0.0		0.0	False		,,,				2504	0.002					ENST00000453777.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47						c.(283-285)Cgg>Tgg		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1		C	TRP/ARG	0,4406		0,0,2203	121.0	115.0	117.0		283	-1.3	0.0	19		117	1,8599	1.2+/-3.3	0,1,4299	no	missense	LILRA1	NM_006863.1	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	95/490	55106342	1,13005	2203	4300	6503	SO:0001583	missense	11024				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	g.chr19:55106342C>T	AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.283C>T	19.37:g.55106342C>T	ENSP00000251372:p.Arg95Trp					LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000251372.3_Missense_Mutation_p.R95W	p.R95W	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN		GBM - Glioblastoma multiforme(193;0.0348)	4	453	+			95			Ig-like C2-type 1.		O75018|Q3MJA6	Missense_Mutation	SNP	ENST00000251372.3	37	c.283C>T	CCDS12901.1	.	.	.	.	.	.	.	.	.	.	C	8.318	0.823541	0.16678	0.0	1.16E-4	ENSG00000104974	ENST00000251372;ENST00000453777	T;T	0.13778	2.56;2.56	1.58	-1.3	0.09259	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.639860	0.04121	N	0.316290	T	0.19604	0.0471	M	0.86740	2.835	0.09310	N	1	B;P	0.38440	0.097;0.631	B;B	0.32805	0.03;0.153	T	0.37842	-0.9688	10	0.72032	D	0.01	.	5.5529	0.17101	0.6042:0.3958:0.0:0.0	.	95;95	O75019-2;O75019	.;LIRA1_HUMAN	W	95	ENSP00000251372:R95W;ENSP00000413715:R95W	ENSP00000251372:R95W	R	+	1	2	LILRA1	59798154	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-0.728000	0.04925	-0.245000	0.09625	0.194000	0.17425	CGG		0.572	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2	NM_006863		16	450	0	0	0	0.557998	0	16	450				
SRRM2	23524	broad.mit.edu	37	16	2817974	2817974	+	Missense_Mutation	SNP	C	C	T	rs567024718		TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr16:2817974C>T	ENST00000301740.8	+	11	7994	c.7445C>T	c.(7444-7446)aCg>aTg	p.T2482M	AC092117.2_ENST00000581119.1_RNA|SRRM2_ENST00000574593.1_3'UTR	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2482	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GCAGTGGCAACGACCACGTCC	0.602																																						ENST00000301740.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						c.(7444-7446)aCg>aTg		serine/arginine repetitive matrix 2							117.0	97.0	104.0					16																	2817974		2198	4300	6498	SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2817974C>T	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.7445C>T	16.37:g.2817974C>T	ENSP00000301740:p.Thr2482Met					SRRM2_ENST00000574593.1_3'UTR	p.T2482M	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN			11	7994	+			2482			Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.7445C>T	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	C	5.606	0.296563	0.10622	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	T	0.77229	-1.08	5.91	3.69	0.42338	.	0.254140	0.34628	N	0.003801	T	0.53514	0.1801	N	0.14661	0.345	0.09310	N	1	P	0.44006	0.824	B	0.31337	0.128	T	0.51293	-0.8724	10	0.59425	D	0.04	-13.6294	6.7485	0.23474	0.6891:0.1623:0.0:0.1487	.	2482	Q9UQ35	SRRM2_HUMAN	M	2482;2064;1734	ENSP00000301740:T2482M	ENSP00000301740:T2482M	T	+	2	0	SRRM2	2757975	0.903000	0.30736	0.019000	0.16419	0.235000	0.25334	1.785000	0.38684	0.503000	0.28060	-1.072000	0.02254	ACG		0.602	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			12	333	0	0	0	0.411799	0	12	333				
RNF213	57674	broad.mit.edu	37	17	78321227	78321227	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr17:78321227G>A	ENST00000582970.1	+	29	9235	c.9092G>A	c.(9091-9093)gGt>gAt	p.G3031D	RNF213_ENST00000336301.6_Missense_Mutation_p.G1104D|RNF213_ENST00000508628.2_Missense_Mutation_p.G3080D	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3031					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AAGGTGCCGGGTGGAGAGCAG	0.547																																						ENST00000582970.1																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(9091-9093)gGt>gAt		ring finger protein 213							61.0	55.0	57.0					17																	78321227		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78321227G>A	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.9092G>A	17.37:g.78321227G>A	ENSP00000464087:p.Gly3031Asp					RNF213_ENST00000508628.2_Missense_Mutation_p.G3080D|RNF213_ENST00000336301.6_Missense_Mutation_p.G1104D	p.G3031D	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		29	9235	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.9092G>A	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	G	1.151	-0.646699	0.03531	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.21031	2.03	5.1	0.667	0.17907	.	0.632866	0.14045	N	0.345181	T	0.15435	0.0372	L	0.56769	1.78	0.09310	N	1	B	0.22851	0.076	B	0.21360	0.034	T	0.41251	-0.9519	10	0.05525	T	0.97	.	7.3007	0.26418	0.1433:0.2588:0.5979:0.0	.	1104	Q63HN8	RN213_HUMAN	D	3031;3080;1104	ENSP00000338218:G1104D	ENSP00000338218:G1104D	G	+	2	0	RNF213	75935822	0.003000	0.15002	0.000000	0.03702	0.000000	0.00434	0.664000	0.25068	0.076000	0.16826	-0.986000	0.02555	GGT		0.547	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		20	243	0	0	0	0.575678	0	20	243				
CROCCP2	84809	broad.mit.edu	37	1	16958063	16958063	+	lincRNA	SNP	C	C	T	rs386628937|rs2779441	byFrequency	TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr1:16958063C>T	ENST00000412962.1	-	0	74							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											AGCCCCTCTCCATCCTCTGTC	0.652													.|||	346	0.0690895	0.09	0.0994	5008	,	,		59355	0.0119		0.0676	False		,,,				2504	0.0798					ENST00000412962.1																			0																																																			0							g.chr1:16958063C>T	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16958063C>T														0	74	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.652	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		7	57	0	0	0	0.278610	0	7	57				
CSMD2	114784	broad.mit.edu	37	1	34209014	34209014	+	Silent	SNP	G	G	A	rs547519483		TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr1:34209014G>A	ENST00000373381.4	-	14	2216	c.2040C>T	c.(2038-2040)gcC>gcT	p.A680A		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	640	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CGGGCGCCTCGGCGGTGGCCC	0.612													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17698	0.0		0.0	False		,,,				2504	0.0					ENST00000373381.4																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(2038-2040)gcC>gcT		CUB and Sushi multiple domains 2							68.0	68.0	68.0					1																	34209014		2203	4300	6503	SO:0001819	synonymous_variant	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34209014G>A	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.2040C>T	1.37:g.34209014G>A							p.A680A	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			14	2216	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	640			CUB 4.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000373381.4	37	c.2040C>T																																																																																					0.612	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		33	401	0	0	0	0.769981	0	33	401				
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		12	125	0	0	0	0.457914	0	12	125				
NCOA6	23054	broad.mit.edu	37	20	33324554	33324554	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr20:33324554G>A	ENST00000374796.2	-	13	8472	c.5902C>T	c.(5902-5904)Cag>Tag	p.Q1968*	NCOA6_ENST00000359003.2_Nonsense_Mutation_p.Q1968*			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1968	EP300/CRSP3-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						ACTAAATTCTGCGACGGGGCT	0.423																																						ENST00000374796.2																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(5902-5904)Cag>Tag		nuclear receptor coactivator 6							73.0	67.0	69.0					20																	33324554		2203	4300	6503	SO:0001587	stop_gained	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33324554G>A	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.5902C>T	20.37:g.33324554G>A	ENSP00000363929:p.Gln1968*					NCOA6_ENST00000359003.2_Nonsense_Mutation_p.Q1968*	p.Q1968*			Q14686	NCOA6_HUMAN			13	8472	-			1968			EP300/CRSP3-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Nonsense_Mutation	SNP	ENST00000374796.2	37	c.5902C>T	CCDS13241.1	.	.	.	.	.	.	.	.	.	.	G	57	29.054307	0.99975	.	.	ENSG00000198646	ENST00000374796;ENST00000359003	.	.	.	5.82	5.82	0.92795	.	0.210894	0.33496	N	0.004842	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-0.2715	16.8083	0.85711	0.0:0.0:1.0:0.0	.	.	.	.	X	1968	.	ENSP00000351894:Q1968X	Q	-	1	0	NCOA6	32788215	1.000000	0.71417	1.000000	0.80357	0.427000	0.31564	3.764000	0.55264	2.765000	0.95021	0.591000	0.81541	CAG		0.423	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		20	182	0	0	0	0.575678	0	20	182				
ALOX15B	247	broad.mit.edu	37	17	7942847	7942847	+	Silent	SNP	G	G	A			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr17:7942847G>A	ENST00000380183.4	+	2	430	c.291G>A	c.(289-291)ccG>ccA	p.P97P	ALOX15B_ENST00000573359.1_Silent_p.P97P|ALOX15B_ENST00000572022.1_Silent_p.P97P|ALOX15B_ENST00000380173.2_Silent_p.P97P	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	97	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				apoptotic process (GO:0006915)|arachidonic acid metabolic process (GO:0019369)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipid metabolic process (GO:0006629)|lipoxygenase pathway (GO:0019372)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostate gland development (GO:0030850)|regulation of epithelial cell differentiation (GO:0030856)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arachidonate 15-lipoxygenase activity (GO:0050473)|arachidonate 8(S)-lipoxygenase activity (GO:0036403)|calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|lipid binding (GO:0008289)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						TGACACCGCCGCGGGGCGGCC	0.746																																						ENST00000380183.4																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						c.(289-291)ccG>ccA		arachidonate 15-lipoxygenase, type B							3.0	3.0	3.0					17																	7942847		1942	3806	5748	SO:0001819	synonymous_variant	247				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:7942847G>A	U78294	CCDS11128.1, CCDS32558.1, CCDS32559.1	17p13.1	2013-03-20	2006-01-16		ENSG00000179593	ENSG00000179593	1.13.11.33	"""Arachidonate lipoxygenases"""	434	protein-coding gene	gene with protein product		603697	"""arachidonate 15-lipoxygenase, second type"""			9177185	Standard	NM_001039130		Approved	15-LOX-2	uc002gju.3	O15296	OTTHUMG00000108181	ENST00000380183.4:c.291G>A	17.37:g.7942847G>A						ALOX15B_ENST00000572022.1_Silent_p.P97P|ALOX15B_ENST00000573359.1_Silent_p.P97P|ALOX15B_ENST00000380173.2_Silent_p.P97P	p.P97P	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN			2	430	+			97			PLAT.		D3DTR2|Q8IYQ2|Q8TEV3|Q8TEV4|Q8TEV5|Q8TEV6|Q9UKM4	Silent	SNP	ENST00000380183.4	37	c.291G>A	CCDS11128.1																																																																																				0.746	ALOX15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226985.2			4	29	0	0	0	0.184627	0	4	29				
DFNB59	494513	broad.mit.edu	37	2	179319081	179319081	+	Silent	SNP	G	G	C			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr2:179319081G>C	ENST00000409117.3	+	3	590	c.234G>C	c.(232-234)ctG>ctC	p.L78L	DFNB59_ENST00000375129.4_Silent_p.L78L|PRKRA_ENST00000470200.1_5'Flank	NM_001042702.3	NP_001036167.1	Q0ZLH3	PJVK_HUMAN	deafness, autosomal recessive 59	78					sensory perception of sound (GO:0007605)	neuronal cell body (GO:0043025)				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			ATCAATTACTGAATTATGAAG	0.299																																						ENST00000409117.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18						c.(232-234)ctG>ctC		deafness, autosomal recessive 59							77.0	74.0	75.0					2																	179319081		1829	4082	5911	SO:0001819	synonymous_variant	494513				sensory perception of sound			g.chr2:179319081G>C	BC020859, BQ887979	CCDS42787.1	2q31.2	2011-07-01			ENSG00000204311	ENSG00000204311			29502	protein-coding gene	gene with protein product		610219				16804542	Standard	NM_001042702		Approved	pejvakin	uc002umi.4	Q0ZLH3	OTTHUMG00000154425	ENST00000409117.3:c.234G>C	2.37:g.179319081G>C						DFNB59_ENST00000375129.4_Silent_p.L78L	p.L78L	NM_001042702.3	NP_001036167.1	Q0ZLH3	PJVK_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)		3	590	+			78					A0PK14|B9EJE2	Silent	SNP	ENST00000409117.3	37	c.234G>C	CCDS42787.1	.	.	.	.	.	.	.	.	.	.	G	8.470	0.857360	0.17106	.	.	ENSG00000204311	ENST00000442710	.	.	.	5.97	5.1	0.69264	.	.	.	.	.	T	0.63390	0.2507	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62181	-0.6908	4	.	.	.	-4.9701	11.6167	0.51094	0.0694:0.1332:0.7975:0.0	.	.	.	.	Q	26	.	.	E	+	1	0	DFNB59	179027327	0.999000	0.42202	1.000000	0.80357	0.999000	0.98932	0.442000	0.21628	1.525000	0.49052	0.655000	0.94253	GAA		0.299	DFNB59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335160.1			18	328	0	0	0	0.592651	0	18	328				
CADM1	23705	broad.mit.edu	37	11	115080343	115080343	+	Silent	SNP	G	G	T			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr11:115080343G>T	ENST00000452722.3	-	8	1049	c.1029C>A	c.(1027-1029)acC>acA	p.T343T	CADM1_ENST00000331581.6_Silent_p.T343T|CADM1_ENST00000542447.2_Intron|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000536727.1_Intron|CADM1_ENST00000537058.1_Silent_p.T343T	NM_014333.3	NP_055148.3			cell adhesion molecule 1									p.T343T(5)		cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		tggtggtggtggttgttgtgg	0.433																																						ENST00000537058.1																			5	Substitution - coding silent(5)	p.T343T(5)	kidney(3)|lung(2)	cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32						c.(1027-1029)acC>acA		cell adhesion molecule 1							45.0	50.0	49.0					11																	115080343		2201	4296	6497	SO:0001819	synonymous_variant	23705				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	g.chr11:115080343G>T	AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5951	protein-coding gene	gene with protein product	"""nectin-like 2"""	605686	"""tumor suppressor in lung cancer 1"", ""immunoglobulin superfamily, member 4"""	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.1029C>A	11.37:g.115080343G>T						CADM1_ENST00000537140.1_Intron|CADM1_ENST00000452722.2_Silent_p.T343T|CADM1_ENST00000542447.2_Intron|CADM1_ENST00000536727.1_Intron|CADM1_ENST00000331581.6_Silent_p.T343T	p.T343T			Q9BY67	CADM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)	8	1049	-	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)	343	PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657).					Silent	SNP	ENST00000452722.3	37	c.1029C>A	CCDS8373.1																																																																																				0.433	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	NM_014333		6	231	1	0	1.12685e-05	0.307466	1.19237e-05	6	231				
GPR68	8111	broad.mit.edu	37	14	91700906	91700906	+	Silent	SNP	G	G	A	rs145413696		TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr14:91700906G>A	ENST00000531499.2	-	2	828	c.489C>T	c.(487-489)atC>atT	p.I163I	GPR68_ENST00000535815.1_Silent_p.I163I|GPR68_ENST00000238699.3_Silent_p.I173I|GPR68_ENST00000529300.1_5'Flank			Q15743	OGR1_HUMAN	G protein-coupled receptor 68	163					cellular response to pH (GO:0071467)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of osteoclast development (GO:2001206)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	8		all_cancers(154;0.0555)		COAD - Colon adenocarcinoma(157;0.21)		TCTCGTCCTCGATGACCTCCT	0.617																																						ENST00000531499.2																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	8						c.(487-489)atC>atT		G protein-coupled receptor 68		G	,	1,4405	2.1+/-5.4	0,1,2202	84.0	61.0	69.0		489,489	-3.0	0.5	14	dbSNP_134	69	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	GPR68	NM_001177676.1,NM_003485.3	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	163/366,163/366	91700906	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0				inflammatory response	integral to plasma membrane	G-protein coupled receptor activity	g.chr14:91700906G>A	U48405	CCDS9894.1, CCDS9894.2	14q31	2012-08-21				ENSG00000119714		"""GPCR / Class A : Orphans"""	4519	protein-coding gene	gene with protein product		601404				8661159	Standard	NM_001177676		Approved	OGR1	uc001xzg.3	Q15743		ENST00000531499.2:c.489C>T	14.37:g.91700906G>A						GPR68_ENST00000238699.3_Silent_p.I173I|GPR68_ENST00000535815.1_Silent_p.I163I	p.I163I			Q15743	OGR1_HUMAN		COAD - Colon adenocarcinoma(157;0.21)	2	828	-		all_cancers(154;0.0555)	163					Q13334|Q4VBB4|Q6IX34	Silent	SNP	ENST00000531499.2	37	c.489C>T	CCDS9894.2																																																																																				0.617	GPR68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395245.2			9	138	0	0	0	0.361761	0	9	138				
NKX2-2	4821	broad.mit.edu	37	20	21492919	21492919	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr20:21492919G>A	ENST00000377142.4	-	2	820	c.464C>T	c.(463-465)gCg>gTg	p.A155V	NKX2-2-AS1_ENST00000549659.1_RNA	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	155					astrocyte differentiation (GO:0048708)|brain development (GO:0007420)|digestive tract development (GO:0048565)|endocrine pancreas development (GO:0031018)|negative regulation of neuron differentiation (GO:0045665)|neuron fate specification (GO:0048665)|oligodendrocyte development (GO:0014003)|optic nerve development (GO:0021554)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)|spinal cord oligodendrocyte cell fate specification (GO:0021530)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell fate commitment (GO:0003327)|ventral spinal cord interneuron fate determination (GO:0060580)	nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|core promoter proximal region DNA binding (GO:0001159)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						GCGCTCGGGCGCCGACAGGTA	0.672																																						ENST00000377142.4																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(463-465)gCg>gTg		NK2 homeobox 2							27.0	29.0	28.0					20																	21492919		2202	4299	6501	SO:0001583	missense	4821				brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity	g.chr20:21492919G>A	AF019415	CCDS13145.1	20p11.22	2012-03-09	2007-07-09	2002-10-04	ENSG00000125820	ENSG00000125820		"""Homeoboxes / ANTP class : NKL subclass"""	7835	protein-coding gene	gene with protein product		604612	"""NK-2 (Drosophila) homolog B"", ""NK2 transcription factor related, locus 2 (Drosophila)"""	NKX2B		9703340, 1346742	Standard	NM_002509		Approved	NKX2.2	uc002wsi.3	O95096	OTTHUMG00000170524	ENST00000377142.4:c.464C>T	20.37:g.21492919G>A	ENSP00000366347:p.Ala155Val					NKX2-2-AS1_ENST00000549659.1_RNA	p.A155V	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN			2	820	-			155						Missense_Mutation	SNP	ENST00000377142.4	37	c.464C>T	CCDS13145.1	.	.	.	.	.	.	.	.	.	.	G	34	5.306965	0.95629	.	.	ENSG00000125820	ENST00000377142	D	0.96365	-3.99	4.98	4.98	0.66077	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.96645	0.8905	L	0.31294	0.92	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.97924	1.0316	10	0.87932	D	0	.	17.8583	0.88773	0.0:0.0:1.0:0.0	.	155	O95096	NKX22_HUMAN	V	155	ENSP00000366347:A155V	ENSP00000366347:A155V	A	-	2	0	NKX2-2	21440919	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.792000	0.99085	2.291000	0.77112	0.462000	0.41574	GCG		0.672	NKX2-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078278.9			5	131	0	0	0	0.184627	0	5	131				
C8A	731	broad.mit.edu	37	1	57378141	57378141	+	Missense_Mutation	SNP	C	C	A			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr1:57378141C>A	ENST00000361249.3	+	10	1542	c.1446C>A	c.(1444-1446)aaC>aaA	p.N482K		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	482	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						AGCGCCAGAACCTGCGCCGCG	0.622																																						ENST00000361249.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						c.(1444-1446)aaC>aaA		complement component 8, alpha polypeptide							63.0	66.0	65.0					1																	57378141		2203	4300	6503	SO:0001583	missense	731				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		g.chr1:57378141C>A	M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131		"""Complement system"""	1352	protein-coding gene	gene with protein product		120950					Standard	NM_000562		Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.1446C>A	1.37:g.57378141C>A	ENSP00000354458:p.Asn482Lys						p.N482K	NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN			10	1542	+			482			MACPF.		A2RUI4|A2RUI5|Q13668|Q9H130	Missense_Mutation	SNP	ENST00000361249.3	37	c.1446C>A	CCDS606.1	.	.	.	.	.	.	.	.	.	.	C	19.79	3.892211	0.72524	.	.	ENSG00000157131	ENST00000361249	D	0.84800	-1.9	5.73	3.82	0.43975	Membrane attack complex component/perforin (MACPF) domain (3);	0.458515	0.26847	N	0.022186	D	0.92388	0.7584	M	0.90542	3.125	0.48135	D	0.99959	D	0.89917	1.0	D	0.75484	0.986	D	0.91566	0.5268	10	0.62326	D	0.03	-31.1725	9.0762	0.36522	0.1463:0.7801:0.0:0.0736	.	482	P07357	CO8A_HUMAN	K	482	ENSP00000354458:N482K	ENSP00000354458:N482K	N	+	3	2	C8A	57150729	1.000000	0.71417	0.995000	0.50966	0.917000	0.54804	4.273000	0.58914	0.734000	0.32515	0.655000	0.94253	AAC		0.622	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022890.1	NM_000562		14	494	1	0	1.49906e-05	0.457914	1.56798e-05	14	494				
ST5	6764	broad.mit.edu	37	11	8724252	8724252	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr11:8724252G>A	ENST00000534127.1	-	17	2972	c.2587C>T	c.(2587-2589)Cgg>Tgg	p.R863W	ST5_ENST00000526757.1_Missense_Mutation_p.R443W|ST5_ENST00000313726.6_Missense_Mutation_p.R863W|ST5_ENST00000357665.1_Missense_Mutation_p.R863W|ST5_ENST00000534278.1_Missense_Mutation_p.R54W|ST5_ENST00000530438.1_Missense_Mutation_p.R443W|ST5_ENST00000530991.1_Missense_Mutation_p.R335W|ST5_ENST00000526099.1_Missense_Mutation_p.R376W|RPL27A_ENST00000531102.1_Intron	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	863	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		TCCATGGGCCGCCGCAGCTCT	0.612																																						ENST00000534127.1																			0				NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(2587-2589)Cgg>Tgg		suppression of tumorigenicity 5							64.0	60.0	61.0					11																	8724252		2201	4296	6497	SO:0001583	missense	6764				positive regulation of ERK1 and ERK2 cascade		protein binding	g.chr11:8724252G>A	U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"""DENN/MADD domain containing"""	11350	protein-coding gene	gene with protein product	"""DENN/MADD domain containing 2B"""	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.2587C>T	11.37:g.8724252G>A	ENSP00000433528:p.Arg863Trp					ST5_ENST00000530438.1_Missense_Mutation_p.R443W|ST5_ENST00000526099.1_Missense_Mutation_p.R376W|ST5_ENST00000526757.1_Missense_Mutation_p.R443W|ST5_ENST00000534278.1_Missense_Mutation_p.R54W|ST5_ENST00000357665.1_Missense_Mutation_p.R863W|RPL27A_ENST00000531102.1_Intron|ST5_ENST00000530991.1_Missense_Mutation_p.R335W|ST5_ENST00000313726.6_Missense_Mutation_p.R863W	p.R863W	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN		Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)	17	2972	-			863			DENN.		B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Missense_Mutation	SNP	ENST00000534127.1	37	c.2587C>T	CCDS7791.1	.	.	.	.	.	.	.	.	.	.	g	20.2	3.957236	0.73902	.	.	ENSG00000166444	ENST00000526757;ENST00000534127;ENST00000313726;ENST00000530991;ENST00000357665;ENST00000526099;ENST00000534278;ENST00000530438;ENST00000533081;ENST00000533020	T;T;T;T;T;T;T;T;T;T	0.13657	2.57;2.57;2.57;2.57;2.57;2.57;2.57;2.57;2.57;2.57	4.72	3.79	0.43588	DENN (3);	0.000000	0.85682	D	0.000000	T	0.47728	0.1461	H	0.94698	3.57	0.58432	D	0.999992	D;D;D	0.89917	0.981;0.999;1.0	P;D;D	0.91635	0.883;0.985;0.999	T	0.62158	-0.6913	10	0.87932	D	0	-9.9415	13.2336	0.59957	0.0:0.0:0.7124:0.2876	.	376;443;863	B4DDL8;P78524-2;P78524	.;.;ST5_HUMAN	W	443;863;863;335;863;376;54;443;53;335	ENSP00000435097:R443W;ENSP00000433528:R863W;ENSP00000319678:R863W;ENSP00000432887:R335W;ENSP00000350294:R863W;ENSP00000436808:R376W;ENSP00000433349:R54W;ENSP00000436802:R443W;ENSP00000436067:R53W;ENSP00000433588:R335W	ENSP00000319678:R863W	R	-	1	2	ST5	8680828	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.822000	0.55708	0.934000	0.37316	0.486000	0.48141	CGG		0.612	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386518.1	NM_005418		13	288	0	0	0	0.435327	0	13	288				
HOXD3	3232	broad.mit.edu	37	2	177015088	177015088	+	5'Flank	SNP	G	G	A			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr2:177015088G>A	ENST00000468418.3	+	0	0				HOXD4_ENST00000306324.3_5'Flank|MIR10B_ENST00000385011.1_RNA			P31249	HXD3_HUMAN	homeobox D3						anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|embryonic skeletal system morphogenesis (GO:0048704)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		TGTGGTATCCGTATAGTCACA	0.473																																						ENST00000385011.1																			0																				84.0	76.0	79.0					2																	177015088		1568	3582	5150	SO:0001631	upstream_gene_variant	0							g.chr2:177015088G>A		CCDS2270.1	2q31.1	2011-06-20	2005-12-22		ENSG00000128652	ENSG00000128652		"""Homeoboxes / ANTP class : HOXL subclass"""	5137	protein-coding gene	gene with protein product		142980	"""homeo box D3"""	HOX4A, HOX4, HOX1D		1973146, 1358459	Standard	NM_006898		Approved		uc002ukt.1	P31249	OTTHUMG00000132517		2.37:g.177015088G>A	Exception_encountered							NR_029609.1						0	58	+								Q99955|Q9BSC5	RNA	SNP	ENST00000468418.3	37		CCDS2270.1																																																																																				0.473	HOXD3-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334246.4			29	328	0	0	0	0.729181	0	29	328				
VAMP3	9341	broad.mit.edu	37	1	7838212	7838214	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr1:7838212_7838214delTCA	ENST00000054666.6	+	4	381_383	c.266_268delTCA	c.(265-270)ttcatc>ttc	p.I94del	RP3-467L1.6_ENST00000602406.1_RNA|VAMP3_ENST00000470357.1_In_Frame_Del_p.I66del	NM_004781.3	NP_004772.1	Q15836	VAMP3_HUMAN	vesicle-associated membrane protein 3	94					calcium ion-dependent exocytosis (GO:0017156)|exocytosis (GO:0006887)|Golgi to plasma membrane protein transport (GO:0043001)|membrane fusion (GO:0061025)|positive regulation of receptor recycling (GO:0001921)|protein complex assembly (GO:0006461)|retrograde transport, endosome to Golgi (GO:0042147)|SNARE complex assembly (GO:0035493)|substrate adhesion-dependent cell spreading (GO:0034446)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cell surface (GO:0009986)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)|SNARE complex (GO:0031201)|synapse (GO:0045202)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	6	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;6.33e-69)|GBM - Glioblastoma multiforme(8;2.07e-34)|Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.38e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000805)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		CTGGTTATCTTCATCATCATCAT	0.365																																						ENST00000054666.6																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	6						c.(265-270)ttc>t		vesicle-associated membrane protein 3																																				SO:0001651	inframe_deletion	9341				cellular membrane fusion|positive regulation of receptor recycling|protein complex assembly|protein transport|retrograde transport, endosome to Golgi|substrate adhesion-dependent cell spreading|vesicle docking involved in exocytosis	cell junction|clathrin-coated vesicle|integral to membrane|recycling endosome|synapse|synaptosome	protein binding	g.chr1:7838212_7838214delTCA	BC003570	CCDS88.1	1p36.23	2013-02-13	2012-10-17		ENSG00000049245	ENSG00000049245		"""Vesicle-associated membrane proteins"""	12644	protein-coding gene	gene with protein product	"""cellubrevin"""	603657				9885218	Standard	NM_004781		Approved	CEB	uc001aol.3	Q15836	OTTHUMG00000001225	ENST00000054666.6:c.266_268delTCA	1.37:g.7838221_7838223delTCA	ENSP00000054666:p.Ile94del					VAMP3_ENST00000470357.1_In_Frame_Del_p.FI61del	p.FI89del	NM_004781.3	NP_004772.1	Q15836	VAMP3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;6.33e-69)|GBM - Glioblastoma multiforme(8;2.07e-34)|Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.38e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000805)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)	4	381_383	+	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	89					Q9BRV4	In_Frame_Del	DEL	ENST00000054666.6	37	c.266_268delTCA	CCDS88.1																																																																																				0.365	VAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003625.1	NM_004781		9	1057						9	1057	---	---	---	---
WDR78	79819	broad.mit.edu	37	1	67390426	67390426	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr1:67390426delT	ENST00000371026.3	-	1	144	c.89delA	c.(88-90)aagfs	p.K30fs	WDR78_ENST00000431318.1_5'UTR|MIER1_ENST00000355977.6_5'Flank|WDR78_ENST00000371022.3_Frame_Shift_Del_p.K30fs|MIER1_ENST00000371014.1_5'Flank|WDR78_ENST00000371023.3_Frame_Shift_Del_p.K30fs|MIER1_ENST00000357692.2_5'Flank|MIER1_ENST00000371012.2_5'Flank|MIER1_ENST00000371018.3_5'Flank|MIER1_ENST00000401041.1_5'Flank|MIER1_ENST00000371016.1_5'Flank	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	30					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						GCACCACCCCTTTTTTTGGCC	0.622																																						ENST00000371026.3																			0				NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						c.(88-90)agfs		WD repeat domain 78							98.0	98.0	98.0					1																	67390426		2203	4300	6503	SO:0001589	frameshift_variant	79819							g.chr1:67390426delT	BX648840	CCDS635.1, CCDS44157.1	1p31.2	2014-02-21	2013-02-19	2013-02-19	ENSG00000152763	ENSG00000152763		"""WD repeat domain containing"""	26252	protein-coding gene	gene with protein product						21953912	Standard	NM_207014		Approved	DIC4, FLJ23129	uc001dcx.3	Q5VTH9	OTTHUMG00000009165	ENST00000371026.3:c.89delA	1.37:g.67390426delT	ENSP00000360065:p.Lys30fs					WDR78_ENST00000371023.3_Frame_Shift_Del_p.K30fs|WDR78_ENST00000431318.1_5'UTR|WDR78_ENST00000371022.3_Frame_Shift_Del_p.K30fs	p.K30fs	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN			1	144	-			30					A8K9W5|B5MDT3|H7BY80|Q5VTI0|Q8N5G5|Q9H5R9|Q9UF44	Frame_Shift_Del	DEL	ENST00000371026.3	37	c.89delA	CCDS635.1																																																																																				0.622	WDR78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025404.1	NM_024763		10	819						10	819	---	---	---	---
LOC101927209	101927209	broad.mit.edu	37	1	142647307	142647307	+	lincRNA	DEL	G	G	-			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr1:142647307delG	ENST00000610091.1	-	0	3560				RP11-417J8.3_ENST00000426408.1_lincRNA																							gtgtgtgtgtgtgtgtgtgtg	0.398																																						ENST00000369381.2																			0																																																			0							g.chr1:142647307delG																													1.37:g.142647307delG						RP11-417J8.3_ENST00000426408.1_lincRNA								0	2507	-									RNA	DEL	ENST00000610091.1	37																																																																																						0.398	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			2	4						2	4	---	---	---	---
LINC01250	101927554	broad.mit.edu	37	2	2910404	2910404	+	lincRNA	DEL	C	C	-	rs12612636|rs74186474		TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr2:2910404delC	ENST00000457478.1	-	0	594																											caccccctctccccagcccac	0.662																																						ENST00000457478.1																			0																																																			0							g.chr2:2910404delC																													2.37:g.2910404delC														0	594	-									RNA	DEL	ENST00000457478.1	37																																																																																						0.662	AC019118.2-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000322597.1			2	4						2	4	---	---	---	---
LINC01250	101927554	broad.mit.edu	37	2	2910722	2910723	+	lincRNA	INS	-	-	T	rs373675312		TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr2:2910722_2910723insT	ENST00000457478.1	-	0	594																											tccaccccctctccccagccca	0.708																																						ENST00000457478.1																			0																																																			0							g.chr2:2910722_2910723insT																													2.37:g.2910723_2910723dupT														0	594	-									RNA	INS	ENST00000457478.1	37																																																																																						0.708	AC019118.2-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000322597.1			7	23						7	23	---	---	---	---
RNASEH1	246243	broad.mit.edu	37	2	3608128	3608131	+	5'Flank	DEL	TTCT	TTCT	-	rs200893700|rs201494170|rs141292042|rs4849995		TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr2:3608128_3608131delTTCT	ENST00000315212.3	-	0	0				AC108488.3_ENST00000426725.1_RNA|AC108488.3_ENST00000438436.1_RNA	NM_002936.3	NP_002927.2	O60930	RNH1_HUMAN	ribonuclease H1						mitochondrial DNA replication (GO:0006264)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|nucleic acid binding (GO:0003676)|ribonuclease activity (GO:0004540)|RNA binding (GO:0003723)|RNA-DNA hybrid ribonuclease activity (GO:0004523)			endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	13	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0713)|Epithelial(75;0.167)|all cancers(51;0.22)		ccttccttccttcttctttccttc	0.397																																						ENST00000438436.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr2:3608128_3608131delTTCT	AF039652	CCDS1647.1	2p25	2008-03-11			ENSG00000171865	ENSG00000171865	3.1.26.-		18466	protein-coding gene	gene with protein product	"""RNase H1"""	604123				12036296, 17964265	Standard	XR_244873		Approved		uc002qxt.3	O60930	OTTHUMG00000090279		2.37:g.3608128_3608131delTTCT	Exception_encountered					AC108488.3_ENST00000426725.1_RNA		NR_038429.1						0	789	+								B3KQU4|O60523|O60857|Q57Z93|Q5U0C1|Q6FHD4	RNA	DEL	ENST00000315212.3	37		CCDS1647.1																																																																																				0.397	RNASEH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206605.2			4	7						4	7	---	---	---	---
OTOF	9381	broad.mit.edu	37	2	26693554	26693556	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr2:26693554_26693556delCTT	ENST00000272371.2	-	32	4054_4056	c.3928_3930delAAG	c.(3928-3930)aagdel	p.K1310del	OTOF_ENST00000338581.6_In_Frame_Del_p.K543del|OTOF_ENST00000403946.3_In_Frame_Del_p.K1310del|OTOF_ENST00000339598.3_In_Frame_Del_p.K543del|OTOF_ENST00000402415.3_In_Frame_Del_p.K620del	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1310	Poly-Lys.				membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCGCAGTGCCcttcttcttcttc	0.576																																					GBM(102;732 1451 20652 24062 31372)	ENST00000272371.2																			0				NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106						c.(3928-3930)del		otoferlin			,,,	10,9,4247		0,0,10,0,9,2114					,,,	4.9	1.0			146	5,24,8225		0,0,5,0,24,4098	no	codingComplex,codingComplex,codingComplex,codingComplex	OTOF	NM_194323.2,NM_194322.2,NM_194248.2,NM_004802.3	,,,	0,0,15,0,33,6212	A1A1,A1A2,A1R,A2A2,A2R,RR		0.3513,0.4454,0.3834	,,,	,,,		15,33,12472				SO:0001651	inframe_deletion	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26693554_26693556delCTT	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.3928_3930delAAG	2.37:g.26693563_26693565delCTT	ENSP00000272371:p.Lys1310del					OTOF_ENST00000402415.3_In_Frame_Del_p.K620del|OTOF_ENST00000338581.6_In_Frame_Del_p.K543del|OTOF_ENST00000339598.3_In_Frame_Del_p.K543del|OTOF_ENST00000403946.3_In_Frame_Del_p.K1310del	p.K1310del	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN			32	4054_4056	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1310			Poly-Lys.		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	In_Frame_Del	DEL	ENST00000272371.2	37	c.3928_3930delAAG	CCDS1725.1																																																																																				0.576	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			8	457						8	457	---	---	---	---
RP11-333I13.1	0	broad.mit.edu	37	2	47006122	47006123	+	lincRNA	DEL	AC	AC	-	rs72216853		TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr2:47006122_47006123delAC	ENST00000568862.1	+	0	1201_1202																											AGGGCTGAATacacacacacac	0.386																																						ENST00000568862.1																			0																																																			0							g.chr2:47006122_47006123delAC																													2.37:g.47006132_47006133delAC														0	1201_1202	+									RNA	DEL	ENST00000568862.1	37																																																																																						0.386	RP11-333I13.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000431184.1			3	3						3	3	---	---	---	---
AC079807.4	0	broad.mit.edu	37	2	48359751	48359752	+	lincRNA	DEL	AC	AC	-	rs562040804|rs542142202|rs72171602|rs138437666	byFrequency	TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr2:48359751_48359752delAC	ENST00000447571.1	-	0	240																		p.0?(2)									acacacacaaacacacacacac	0.475																																						ENST00000447571.1																			2	Whole gene deletion(2)	p.0?(2)	haematopoietic_and_lymphoid_tissue(2)																																																0							g.chr2:48359751_48359752delAC																													2.37:g.48359761_48359762delAC														0	240	-									RNA	DEL	ENST00000447571.1	37																																																																																						0.475	AC079807.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000323780.4			5	3						5	3	---	---	---	---
GAD1	2571	broad.mit.edu	37	2	171702549	171702549	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr2:171702549delA	ENST00000358196.3	+	10	1528	c.978delA	c.(976-978)gcafs	p.A326fs		NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	326					gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate catabolic process (GO:0006538)|glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|protein-pyridoxal-5-phosphate linkage (GO:0018352)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						ATTTTGAGGCAAAAATTCTTG	0.353																																						ENST00000358196.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						c.(976-978)gcfs		glutamate decarboxylase 1 (brain, 67kDa)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						62.0	66.0	65.0					2																	171702549		2203	4300	6503	SO:0001589	frameshift_variant	2571				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr2:171702549delA		CCDS2239.1, CCDS2240.1	2q31	2008-02-05	2002-08-29		ENSG00000128683	ENSG00000128683	4.1.1.15		4092	protein-coding gene	gene with protein product		605363	"""glutamate decarboxylase 1 (brain, 67kD)"""	GAD		1549570	Standard	XM_005246443		Approved		uc002ugi.3	Q99259	OTTHUMG00000044175	ENST00000358196.3:c.978delA	2.37:g.171702549delA	ENSP00000350928:p.Ala326fs						p.A326fs	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN			10	1528	+			326					Q49AK1|Q53TQ7|Q9BU91|Q9UHH4	Frame_Shift_Del	DEL	ENST00000358196.3	37	c.978delA	CCDS2239.1																																																																																				0.353	GAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102664.2			7	476						7	476	---	---	---	---
P2RY13	53829	broad.mit.edu	37	3	151046142	151046142	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr3:151046142delT	ENST00000325602.5	-	2	721	c.702delA	c.(700-702)aaafs	p.K234fs	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron	NM_176894.2	NP_795713.2	Q9BPV8	P2Y13_HUMAN	purinergic receptor P2Y, G-protein coupled, 13	234					negative regulation of adenylate cyclase activity (GO:0007194)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			AATCATATACTTTTTTTGCAA	0.338																																						ENST00000325602.5																			0				biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						c.(700-702)aafs		purinergic receptor P2Y, G-protein coupled, 13							71.0	77.0	75.0					3																	151046142		2199	4297	6496	SO:0001589	frameshift_variant	53829					integral to membrane|plasma membrane		g.chr3:151046142delT	AF295368	CCDS3158.2	3q24	2012-08-08	2004-07-12	2004-07-14	ENSG00000181631	ENSG00000181631		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	4537	protein-coding gene	gene with protein product		606380	"""G protein-coupled receptor 86"""	GPR94, GPR86		11273702, 11574155	Standard	NM_176894		Approved	FKSG77, P2Y13	uc003eyv.2	Q9BPV8	OTTHUMG00000155745	ENST00000325602.5:c.702delA	3.37:g.151046142delT	ENSP00000320376:p.Lys234fs					MED12L_ENST00000491549.1_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron	p.K234fs	NM_176894.2	NP_795713.2	Q9BPV8	P2Y13_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)		2	721	-			234					B2R827|Q05C50|Q6DKN4|Q8IUT5|Q8TDU7|Q9BY61	Frame_Shift_Del	DEL	ENST00000325602.5	37	c.702delA	CCDS3158.2																																																																																				0.338	P2RY13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341468.1	NM_023914		7	375						7	375	---	---	---	---
SCLT1	132320	broad.mit.edu	37	4	129864162	129864163	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr4:129864162_129864163insT	ENST00000281142.5	-	17	2123_2124	c.1620_1621insA	c.(1618-1623)aaagccfs	p.A541fs	SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000503215.1_Intron|SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000502495.1_5'UTR	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	541					cilium assembly (GO:0042384)|clustering of voltage-gated sodium channels (GO:0045162)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|clathrin complex (GO:0071439)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)	sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						TTTACTTTGGCTTTTTTTTGAG	0.356																																						ENST00000281142.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						c.(1618-1623)aaccaafs		sodium channel and clathrin linker 1																																				SO:0001589	frameshift_variant	132320					centrosome		g.chr4:129864162_129864163insT	AK055217	CCDS3740.1	4q28.2	2008-05-02			ENSG00000151466	ENSG00000151466			26406	protein-coding gene	gene with protein product		611399				15797711	Standard	XM_005262732		Approved	hCAP-1A, FLJ30655	uc003igp.2	Q96NL6	OTTHUMG00000133346	ENST00000281142.5:c.1621dupA	4.37:g.129864170_129864170dupT	ENSP00000281142:p.Ala541fs					SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000503215.1_Intron|SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000439369.2_Intron	p.NQ540fs	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN			17	2123_2124	-			540					A4QN04|Q0VAH2|Q6P2M4	Frame_Shift_Ins	INS	ENST00000281142.5	37	c.1620_1621insA	CCDS3740.1																																																																																				0.356	SCLT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257176.2	NM_144643		7	649						7	649	---	---	---	---
RP11-6N13.1	0	broad.mit.edu	37	5	103975280	103975287	+	lincRNA	DEL	ACACACAC	ACACACAC	-	rs112084633|rs72115344|rs61350128|rs371222459		TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr5:103975280_103975287delACACACAC	ENST00000503650.1	-	0	328																											AGTCCTAGGAacacacacacacacacac	0.356																																						ENST00000503650.1																			0																																																			0							g.chr5:103975280_103975287delACACACAC																													5.37:g.103975288_103975295delACACACAC														0	328	-									RNA	DEL	ENST00000503650.1	37																																																																																						0.356	RP11-6N13.1-007	PUTATIVE	basic	lincRNA	lincRNA	OTTHUMT00000371852.1			3	3						3	3	---	---	---	---
CTC-338M12.9	0	broad.mit.edu	37	5	180708776	180708777	+	lincRNA	INS	-	-	G	rs140221514|rs61118356		TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr5:180708776_180708777insG	ENST00000412295.2	+	0	238																											gggcggtaggagggggctggag	0.728																																						ENST00000412295.2																			0																																																			0							g.chr5:180708776_180708777insG																													5.37:g.180708781_180708781dupG														0	238	+									RNA	INS	ENST00000412295.2	37																																																																																						0.728	CTC-338M12.9-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000372940.1			4	5						4	5	---	---	---	---
PRRC2A	7916	broad.mit.edu	37	6	31597456	31597457	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr6:31597456_31597457insC	ENST00000376033.2	+	14	2322_2323	c.2088_2089insC	c.(2089-2091)cccfs	p.P697fs	PRRC2A_ENST00000376007.4_Frame_Shift_Ins_p.P697fs	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	697	4 X 57 AA type A repeats.|Poly-Pro.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CACAGGCTCCACCCCCGCCCCC	0.649																																						ENST00000376033.2																			0				breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						c.(2086-2091)ccccccfs		proline-rich coiled-coil 2A																																				SO:0001589	frameshift_variant	7916					cytoplasm|nucleus	protein binding	g.chr6:31597456_31597457insC	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.2093dupC	6.37:g.31597461_31597461dupC	ENSP00000365201:p.Pro697fs					PRRC2A_ENST00000376007.4_Frame_Shift_Ins_p.PP696fs	p.PP696fs	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN			14	2322_2323	+			696			4 X 57 AA type A repeats.|Poly-Pro.		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Frame_Shift_Ins	INS	ENST00000376033.2	37	c.2088_2089insC	CCDS4708.1																																																																																				0.649	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		8	153						8	153	---	---	---	---
RELN	5649	broad.mit.edu	37	7	103629803	103629804	+	Start_Codon_Ins	INS	-	-	GCCGCC	rs587780434|rs55656324|rs536610894	byFrequency	TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr7:103629803_103629804insGCCGCC	ENST00000428762.1	-	0	159_160				RELN_ENST00000343529.5_Start_Codon_Ins|RELN_ENST00000424685.2_Start_Codon_Ins	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin						associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTGCGCTCCATgccgccgccgc	0.723														3026	0.604233	0.469	0.5663	5008	,	,		7030	0.8185		0.4732	False		,,,				2504	0.728				NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227								reelin																																				SO:0001582	initiator_codon_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103629803_103629804insGCCGCC		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.-4_1dupGGCGGC	7.37:g.103629804_103629809dupGCCGCC						RELN_ENST00000343529.5_Start_Codon_Ins|RELN_ENST00000424685.2_Start_Codon_Ins		NM_005045.3	NP_005036.2	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	0	159_160	-								A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Translation_Start_Site	INS	ENST00000428762.1	37		CCDS47680.1																																																																																				0.723	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		10	48						10	48	---	---	---	---
XKR5	389610	broad.mit.edu	37	8	6673495	6673496	+	RNA	INS	-	-	C			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr8:6673495_6673496insC	ENST00000518724.1	-	0	958							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		CTGCCTAGGGACCCCCGTCCCG	0.634											OREG0018511	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000518724.1																			0				endometrium(1)|large_intestine(1)|lung(1)	3								XK, Kell blood group complex subunit-related family, member 5																																						389610					integral to membrane		g.chr8:6673495_6673496insC	AY358489		8p23.1	2006-01-12	2006-01-12		ENSG00000186530	ENSG00000275591			20782	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 5"""				Standard	NM_207411		Approved		uc022aqv.1	Q6UX68	OTTHUMG00000153652		8.37:g.6673500_6673500dupC			OREG0018511	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	635					Q6UX68	XKR5_HUMAN	STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)	0	958	-								Q5GH74	RNA	INS	ENST00000518724.1	37																																																																																						0.634	XKR5-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000331969.2	NM_207411		6	13						6	13	---	---	---	---
FGFR1	2260	broad.mit.edu	37	8	38285914	38285916	+	In_Frame_Del	DEL	TCA	TCA	-	rs138489552		TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr8:38285914_38285916delTCA	ENST00000447712.2	-	4	1337_1339	c.396_398delTGA	c.(394-399)gatgac>gac	p.132_133DD>D	FGFR1_ENST00000425967.3_In_Frame_Del_p.165_166DD>D|FGFR1_ENST00000341462.5_In_Frame_Del_p.135_136DD>D|FGFR1_ENST00000335922.5_In_Frame_Del_p.124_125DD>D|FGFR1_ENST00000397091.5_In_Frame_Del_p.132_133DD>D|FGFR1_ENST00000397113.2_In_Frame_Del_p.132_133DD>D|FGFR1_ENST00000397103.1_In_Frame_Del_p.43_44DD>D|FGFR1_ENST00000532791.1_In_Frame_Del_p.132_133DD>D|FGFR1_ENST00000356207.5_In_Frame_Del_p.43_44DD>D|FGFR1_ENST00000326324.6_In_Frame_Del_p.43_44DD>D|FGFR1_ENST00000397108.4_In_Frame_Del_p.132_133DD>D|RP11-350N15.4_ENST00000528407.1_RNA	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	132					angiogenesis (GO:0001525)|auditory receptor cell development (GO:0060117)|axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell maturation (GO:0048469)|cell migration (GO:0016477)|chondrocyte differentiation (GO:0002062)|chordate embryonic development (GO:0043009)|embryonic limb morphogenesis (GO:0030326)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lung-associated mesenchyme development (GO:0060484)|MAPK cascade (GO:0000165)|mesenchymal cell differentiation (GO:0048762)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|outer ear morphogenesis (GO:0042473)|paraxial mesoderm development (GO:0048339)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of cell differentiation (GO:0045595)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of lateral mesodermal cell fate specification (GO:0048378)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ventricular zone neuroblast division (GO:0021847)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)	p.D133N(3)|p.D44N(1)	FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	TGAAGAGGAGtcatcatcatcat	0.498		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""																														Melanoma(146;1153 1840 21453 21841 43625)	ENST00000341462.5		1		Dom	yes		8	8p11.2-p11.1	2260	T	fibroblast growth factor receptor 1	yes	"""Pfeiffer syndrome, Kallman syndrome"""	L	"""BCR, FOP, ZNF198, CEP1"""		"""MPD, NHL"""	FGFR1/ZNF703(2)	4	Substitution - Missense(4)	p.D133N(3)|p.D44N(1)	stomach(4)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50						c.(403-408)gac>ga		fibroblast growth factor receptor 1	Palifermin(DB00039)		,,,,,,,,	46,3694		0,46,1824					,,,,,,,,	3.9	1.0		dbSNP_134	170	127,7795		0,127,3834	no	coding,coding,coding,coding,coding,coding,coding,coding,coding	FGFR1	NM_023110.2,NM_023106.2,NM_023105.2,NM_015850.3,NM_001174067.1,NM_001174066.1,NM_001174065.1,NM_001174064.1,NM_001174063.1	,,,,,,,,	0,173,5658	A1A1,A1R,RR		1.6031,1.2299,1.4835	,,,,,,,,	,,,,,,,,		173,11489				SO:0001651	inframe_deletion	2260				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity	g.chr8:38285914_38285916delTCA	M34185	CCDS6107.2, CCDS43730.1, CCDS43731.1, CCDS43732.1, CCDS55221.1, CCDS55222.1, CCDS55223.1	8p11.23-p11.22	2014-04-03	2008-08-01		ENSG00000077782	ENSG00000077782	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3688	protein-coding gene	gene with protein product	"""Pfeiffer syndrome"""	136350	"""fms-related tyrosine kinase 2"""	FLT2, KAL2		2162671	Standard	NM_015850		Approved	H2, H3, H4, H5, CEK, FLG, BFGFR, N-SAM, CD331	uc011lbu.2	P11362	OTTHUMG00000147366	ENST00000447712.2:c.396_398delTGA	8.37:g.38285923_38285925delTCA	ENSP00000400162:p.Asp133del					FGFR1_ENST00000335922.5_In_Frame_Del_p.DD124del|FGFR1_ENST00000326324.6_In_Frame_Del_p.DD43del|FGFR1_ENST00000447712.2_In_Frame_Del_p.DD132del|FGFR1_ENST00000532791.1_In_Frame_Del_p.DD132del|FGFR1_ENST00000425967.3_In_Frame_Del_p.DD165del|FGFR1_ENST00000397091.5_In_Frame_Del_p.DD132del|FGFR1_ENST00000397103.1_In_Frame_Del_p.DD43del|FGFR1_ENST00000397108.4_In_Frame_Del_p.DD132del|FGFR1_ENST00000397113.2_In_Frame_Del_p.DD132del|FGFR1_ENST00000356207.5_In_Frame_Del_p.DD43del	p.DD135del			P11362	FGFR1_HUMAN	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		4	1346_1348	-	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	132					A8K6T9|A8K8V5|C1KBH8|P17049|Q02063|Q02065|Q14306|Q14307|Q53H63|Q59H40|Q5BJG2|Q8N685|Q9UD50|Q9UDF0|Q9UDF1|Q9UDF2	In_Frame_Del	DEL	ENST00000447712.2	37	c.405_407delTGA	CCDS6107.2																																																																																				0.498	FGFR1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				7	133						7	133	---	---	---	---
RP11-120I21.2	0	broad.mit.edu	37	8	85019395	85019398	+	lincRNA	DEL	ACAC	ACAC	-	rs35262682|rs372555190|rs397838791|rs201385685|rs5892898		TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr8:85019395_85019398delACAC	ENST00000523678.1	+	0	279																											TTCCCATCAAacacacacacacac	0.441																																						ENST00000523678.1																			0																																																			0							g.chr8:85019395_85019398delACAC																													8.37:g.85019403_85019406delACAC														0	279	+									RNA	DEL	ENST00000523678.1	37																																																																																						0.441	RP11-120I21.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000379412.1			4	4						4	4	---	---	---	---
E2F5	1875	broad.mit.edu	37	8	86129664	86129664	+	IGR	DEL	T	T	-			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr8:86129664delT	ENST00000416274.2	+	0	1728				C8orf59_ENST00000421308.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000417663.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000458398.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000545322.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000518091.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000431163.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000524353.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000518562.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000321777.5_Frame_Shift_Del_p.N22fs	NM_001083588.1|NM_001951.3	NP_001077057.1|NP_001942.2	Q15329	E2F5_HUMAN	E2F transcription factor 5, p130-binding						gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						AGCCTTAAAGTTTTTTTGGCT	0.343																																						ENST00000417663.2																			0											c.(64-66)acfs		chromosome 8 open reading frame 59							196.0	178.0	184.0					8																	86129664		1818	4077	5895	SO:0001628	intergenic_variant	401466							g.chr8:86129664delT	X86097	CCDS47885.1, CCDS47886.1, CCDS55254.1	8q21.2	2004-01-29			ENSG00000133740	ENSG00000133740			3119	protein-coding gene	gene with protein product		600967				7892279	Standard	NM_001083588		Approved		uc003ycz.4	Q15329	OTTHUMG00000164785		8.37:g.86129664delT						C8orf59_ENST00000458398.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000518091.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000321777.5_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000518562.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000545322.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000431163.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000421308.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000524353.1_Frame_Shift_Del_p.N22fs	p.N22fs	NM_001099670.1|NM_001099671.1|NM_001099672.1|NM_001099673.1	NP_001093140.1|NP_001093141.1|NP_001093142.1|NP_001093143.1	Q8N0T1	CH059_HUMAN			2	136	-			22					E9PBN9|Q16601|Q92756	Frame_Shift_Del	DEL	ENST00000416274.2	37	c.65delA	CCDS47885.1																																																																																				0.343	E2F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380274.1	NM_001951		9	891						9	891	---	---	---	---
AGO2	27161	broad.mit.edu	37	8	141554345	141554345	+	Frame_Shift_Del	DEL	G	G	-	rs148575703	byFrequency	TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr8:141554345delG	ENST00000220592.5	-	14	1918	c.1806delC	c.(1804-1806)cccfs	p.P602fs	AGO2_ENST00000519980.1_Frame_Shift_Del_p.P602fs	NM_012154.3	NP_036286.2	Q9UKV8	AGO2_HUMAN	argonaute RISC catalytic component 2	602	Piwi. {ECO:0000255|HAMAP-Rule:MF_03031}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|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)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|mRNA cap binding complex (GO:0005845)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|RISC complex (GO:0016442)	endoribonuclease activity (GO:0004521)|endoribonuclease activity, cleaving siRNA-paired mRNA (GO:0070551)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|siRNA binding (GO:0035197)|translation initiation factor activity (GO:0003743)										CATCCCCGGCGGGGGGGTGAG	0.647																																						ENST00000220592.5																			0											c.(1804-1806)ccfs		argonaute RISC catalytic component 2							92.0	101.0	98.0					8																	141554345		2203	4300	6503	SO:0001589	frameshift_variant	27161							g.chr8:141554345delG	AF121255	CCDS6380.1, CCDS55279.1	8q24.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000123908	ENSG00000123908		"""Argonaute/PIWI family"""	3263	protein-coding gene	gene with protein product	"""argonaute 2"""	606229	"""eukaryotic translation initiation factor 2C, 2"""	EIF2C2		10534406, 12906857	Standard	NM_012154		Approved	hAGO2, Q10	uc003yvn.3	Q9UKV8	OTTHUMG00000164232	ENST00000220592.5:c.1806delC	8.37:g.141554345delG	ENSP00000220592:p.Pro602fs					AGO2_ENST00000519980.1_Frame_Shift_Del_p.P602fs	p.P602fs	NM_012154.3	NP_036286.2					14	1918	-								Q8TCZ5|Q8WV58|Q96ID1	Frame_Shift_Del	DEL	ENST00000220592.5	37	c.1806delC	CCDS6380.1																																																																																				0.647	AGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377866.4			8	998						8	998	---	---	---	---
CEL	1056	broad.mit.edu	37	9	135946954	135946955	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr9:135946954_135946955insC	ENST00000372080.4	+	11	2090_2091	c.2074_2075insC	c.(2074-2076)gccfs	p.A692fs	CEL_ENST00000351304.7_Frame_Shift_Ins_p.A623fs	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	689	17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type).				cholesterol catabolic process (GO:0006707)|fatty acid catabolic process (GO:0009062)|intestinal cholesterol absorption (GO:0030299)|intestinal lipid catabolic process (GO:0044258)|lipid digestion (GO:0044241)|lipid metabolic process (GO:0006629)|pancreatic juice secretion (GO:0030157)|protein esterification (GO:0018350)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	acylglycerol lipase activity (GO:0047372)|catalytic activity (GO:0003824)|heparin binding (GO:0008201)|hydrolase activity (GO:0016787)|sterol esterase activity (GO:0004771)|triglyceride lipase activity (GO:0004806)	p.A692P(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		TGACTCCGGCGCCCCCCCCGTG	0.842																																						ENST00000372080.4																			1	Substitution - Missense(1)	p.A692P(1)	skin(1)	NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20						c.(2074-2076)cccfs		carboxyl ester lipase				20,684		7,6,339						0.9	0.0			1	169,1837		53,63,887	no	frameshift	CEL	NM_001807.3		60,69,1226	A1A1,A1R,RR		8.4247,2.8409,6.9742				189,2521				SO:0001589	frameshift_variant	1056				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity	g.chr9:135946954_135946955insC	M54994	CCDS43896.1	9q34.3	2013-03-13	2013-03-13		ENSG00000170835	ENSG00000170835	3.1.1.3, 3.1.1.13		1848	protein-coding gene	gene with protein product	"""bile salt-stimulated lipase"""	114840				1676983	Standard	NM_001807		Approved	BSSL, MODY8	uc010naa.2	P19835	OTTHUMG00000020855	ENST00000372080.4:c.2082dupC	9.37:g.135946962_135946962dupC	ENSP00000361151:p.Ala692fs					CEL_ENST00000351304.7_Frame_Shift_Ins_p.P623fs	p.P692fs	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)	11	2090_2091	+			689			17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type).		Q16398|Q5T7U7|Q9UCH1|Q9UP41	Frame_Shift_Ins	INS	ENST00000372080.4	37	c.2074_2075insC	CCDS43896.1																																																																																				0.842	CEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054823.1			4	8						4	8	---	---	---	---
KIAA1217	56243	broad.mit.edu	37	10	24822125	24822127	+	In_Frame_Del	DEL	GAA	GAA	-	rs140819336	byFrequency	TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr10:24822125_24822127delGAA	ENST00000376454.3	+	16	3403_3405	c.3373_3375delGAA	c.(3373-3375)gaadel	p.E1129del	KIAA1217_ENST00000396446.1_In_Frame_Del_p.E812del|KIAA1217_ENST00000396445.1_In_Frame_Del_p.E812del|KIAA1217_ENST00000458595.1_In_Frame_Del_p.E1094del|KIAA1217_ENST00000307544.6_In_Frame_Del_p.E812del|KIAA1217_ENST00000376452.3_In_Frame_Del_p.E1093del|KIAA1217_ENST00000376462.1_In_Frame_Del_p.E1049del|KIAA1217_ENST00000376451.2_In_Frame_Del_p.E812del	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1129					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GGATGAGGAGGAAGAAGAAGAAG	0.552														6	0.00119808	0.0008	0.0014	5008	,	,		21525	0.0		0.004	False		,,,				2504	0.0					ENST00000376451.2																			0				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						c.(2422-2424)del		KIAA1217			,,	28,4236		0,28,2104					,,	3.6	1.0		dbSNP_134	73	85,8169		0,85,4042	no	coding,coding,coding	KIAA1217	NM_019590.3,NM_001098501.1,NM_001098500.1	,,	0,113,6146	A1A1,A1R,RR		1.0298,0.6567,0.9027	,,	,,		113,12405				SO:0001651	inframe_deletion	56243				embryonic skeletal system development	cytoplasm		g.chr10:24822125_24822127delGAA	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.3373_3375delGAA	10.37:g.24822134_24822136delGAA	ENSP00000365637:p.Glu1129del					KIAA1217_ENST00000376454.3_In_Frame_Del_p.E1129del|KIAA1217_ENST00000376462.1_In_Frame_Del_p.E1049del|KIAA1217_ENST00000396446.1_In_Frame_Del_p.E812del|KIAA1217_ENST00000458595.1_In_Frame_Del_p.E1094del|KIAA1217_ENST00000376452.3_In_Frame_Del_p.E1093del|KIAA1217_ENST00000307544.6_In_Frame_Del_p.E812del|KIAA1217_ENST00000396445.1_In_Frame_Del_p.E812del	p.E812del			Q5T5P2	SKT_HUMAN			11	2682_2684	+			1129					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	In_Frame_Del	DEL	ENST00000376454.3	37	c.2422_2424delGAA	CCDS31165.1																																																																																				0.552	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		8	293						8	293	---	---	---	---
TM9SF3	56889	broad.mit.edu	37	10	98336475	98336475	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr10:98336475delT	ENST00000371142.4	-	2	430	c.214delA	c.(214-216)agtfs	p.S72fs		NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	72						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		TGACTGATACTTTTTTTTGAC	0.363																																						ENST00000371142.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15						c.(214-216)gtfs		transmembrane 9 superfamily member 3							146.0	145.0	145.0					10																	98336475		2203	4300	6503	SO:0001589	frameshift_variant	56889					integral to membrane	binding	g.chr10:98336475delT	AF160213, AF269150	CCDS7450.1	10q24.2	2006-04-12			ENSG00000077147	ENSG00000077147			21529	protein-coding gene	gene with protein product						11530251, 11595169	Standard	NM_020123		Approved	SMBP	uc001kmm.4	Q9HD45	OTTHUMG00000018834	ENST00000371142.4:c.214delA	10.37:g.98336475delT	ENSP00000360184:p.Ser72fs						p.S72fs	NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)	2	430	-		Colorectal(252;0.158)	72					Q5TB57|Q6UWE7|Q9NWL8|Q9P0G9|Q9UHW8	Frame_Shift_Del	DEL	ENST00000371142.4	37	c.214delA	CCDS7450.1																																																																																				0.363	TM9SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049610.2	NM_020123		7	794						7	794	---	---	---	---
LOC101927226	101927226	broad.mit.edu	37	11	59396046	59396049	+	RNA	DEL	CCTT	CCTT	-	rs10459030		TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr11:59396046_59396049delCCTT	ENST00000531108.1	+	0	104				AP000442.1_ENST00000531311.1_RNA																							tgcctgcctgccttccttccttcc	0.598																																						ENST00000531311.1																			0																																																			0							g.chr11:59396046_59396049delCCTT																													11.37:g.59396054_59396057delCCTT						AP000442.1_ENST00000531108.1_RNA								0	59	+									RNA	DEL	ENST00000531108.1	37																																																																																						0.598	AP000442.1-002	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000394239.1			4	7						4	7	---	---	---	---
SUGT1P3	283507	broad.mit.edu	37	13	41488419	41488420	+	RNA	INS	-	-	A	rs34364962|rs199786451|rs397707905	byFrequency	TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr13:41488419_41488420insA	ENST00000304932.4	-	0	214					NR_003365.2				SUGT1 pseudogene 3																		CCCTTCCTCCCAAAAGTAGACA	0.45													AAAA|AAAA|AAAAA|insertion	1357	0.270966	0.2398	0.1859	5008	,	,		18738	0.3948		0.2475	False		,,,				2504	0.2699					ENST00000304932.4																			0																																																			0							g.chr13:41488419_41488420insA			13q14.11	2013-10-18	2013-10-18	2010-10-27	ENSG00000239827	ENSG00000239827			20513	pseudogene	pseudogene			"""SGT1, suppressor of G2 allele of SKP1 like 1 (S. cerevisiae)"", ""suppressor of G2 allele of SKP1 (S. cerevisiae) pseudogene 3"""	SUGT1L1			Standard	NR_003365		Approved		uc001uxq.3		OTTHUMG00000016780		13.37:g.41488423_41488423dupA								NR_003365.2						0	214	-									RNA	INS	ENST00000304932.4	37																																																																																						0.450	SUGT1P3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000044647.3			3	3						3	3	---	---	---	---
IRF2BPL	64207	broad.mit.edu	37	14	77493647	77493648	+	In_Frame_Ins	INS	-	-	GCG	rs61991619|rs371633333	byFrequency	TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr14:77493647_77493648insGCG	ENST00000238647.3	-	1	1386_1387	c.488_489insCGC	c.(487-489)gct>gcCGCt	p.163_163A>AA		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	163	Poly-Ala.				development of secondary female sexual characteristics (GO:0046543)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular space (GO:0005615)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.A164delA(1)		endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						GTTCCACCgcagcggcggcggc	0.748																																						ENST00000238647.3																			1	Deletion - In frame(1)	p.A164delA(1)	prostate(1)	endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						c.(487-489)ggc>gCGCgc		interferon regulatory factor 2 binding protein-like																																				SO:0001652	inframe_insertion	64207					nucleus		g.chr14:77493647_77493648insGCG	AJ277365	CCDS9854.1	14q24.3	2011-02-23	2011-02-23	2011-02-23	ENSG00000119669	ENSG00000119669			14282	protein-coding gene	gene with protein product	"""enhanced at puberty 1"""	611720	"""chromosome 14 open reading frame 4"""	C14orf4		11095982, 17627301	Standard	NM_024496		Approved	EAP1, KIAA1865	uc001xsy.4	Q9H1B7		ENST00000238647.3:c.486_488dupCGC	14.37:g.77493654_77493656dupGCG	ENSP00000238647:p.Ala164dup						p.163_163G>AR	NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN			1	1386_1387	-			163			Poly-Ala.		Q8NDQ2|Q96JG2|Q9H3I7	In_Frame_Ins	INS	ENST00000238647.3	37	c.488_489insCGC	CCDS9854.1																																																																																				0.748	IRF2BPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414298.1	NM_024496		9	57						9	57	---	---	---	---
SPATA5L1	79029	broad.mit.edu	37	15	45710840	45710841	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr15:45710840_45710841insT	ENST00000305560.6	+	7	2153_2154	c.2054_2055insT	c.(2053-2058)tgttttfs	p.CF685fs	SPATA5L1_ENST00000533841.1_3'UTR	NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN	spermatogenesis associated 5-like 1	685						cytoplasm (GO:0005737)	ATP binding (GO:0005524)			kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		GCAGAAACCTGTTTTTTTTCTG	0.361																																						ENST00000305560.6																			0				kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						c.(2053-2055)tttfs		spermatogenesis associated 5-like 1																																				SO:0001589	frameshift_variant	79029					cytoplasm	ATP binding|nucleoside-triphosphatase activity	g.chr15:45710840_45710841insT	AK023232	CCDS10123.1	15q15.1	2010-04-21			ENSG00000171763	ENSG00000171763		"""ATPases / AAA-type"""	28762	protein-coding gene	gene with protein product						12477932	Standard	NM_024063		Approved	MGC5347, FLJ12286	uc001zve.3	Q9BVQ7	OTTHUMG00000131425	ENST00000305560.6:c.2062dupT	15.37:g.45710848_45710848dupT	ENSP00000305494:p.Cys685fs					SPATA5L1_ENST00000533841.1_3'UTR	p.F685fs	NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)	7	2153_2154	+		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)	685					C9JHR5|Q9H8W7|Q9HA41	Frame_Shift_Ins	INS	ENST00000305560.6	37	c.2054_2055insT	CCDS10123.1																																																																																				0.361	SPATA5L1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000254218.1	NM_024063		7	451						7	451	---	---	---	---
RP11-420N3.2	0	broad.mit.edu	37	16	5313074	5313076	+	RNA	DEL	GGT	GGT	-	rs542176654		TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr16:5313074_5313076delGGT	ENST00000569895.1	+	0	304				AC074051.1_ENST00000408882.1_RNA																							GCAGggtgacggtggtggtggtg	0.483																																						ENST00000569895.1																			0																																																			0							g.chr16:5313074_5313076delGGT																													16.37:g.5313083_5313085delGGT														0	304	+									RNA	DEL	ENST00000569895.1	37																																																																																						0.483	RP11-420N3.2-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000435404.2			7	140						7	140	---	---	---	---
RP11-586K12.11	0	broad.mit.edu	37	16	32663461	32663462	+	lincRNA	DEL	AC	AC	-			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr16:32663461_32663462delAC	ENST00000565347.1	+	0	164				RP11-586K12.13_ENST00000561744.1_RNA																							ATTATTTTATacacacacacac	0.416																																						ENST00000565347.1																			0																																																			0							g.chr16:32663461_32663462delAC																													16.37:g.32663471_32663472delAC														0	164	+									RNA	DEL	ENST00000565347.1	37																																																																																						0.416	RP11-586K12.11-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000432352.1			3	4						3	4	---	---	---	---
KRT12	3859	broad.mit.edu	37	17	39022893	39022894	+	Frame_Shift_Ins	INS	-	-	AGTG			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr17:39022893_39022894insAGTG	ENST00000251643.4	-	1	568_569	c.545_546insCACT	c.(544-546)ctgfs	p.-182fs		NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12						visual perception (GO:0007601)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)			Griseofulvin(DB00400)	GGTCTTCAATCAGTGGATAATA	0.371																																						ENST00000251643.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15						c.(544-546)catfs		keratin 12																																				SO:0001589	frameshift_variant	3859				visual perception	intermediate filament	structural molecule activity	g.chr17:39022893_39022894insAGTG		CCDS11378.1	17q21.2	2013-06-20	2008-08-01		ENSG00000187242	ENSG00000187242		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6414	protein-coding gene	gene with protein product	"""Meesmann corneal dystrophy"""	601687				9171831, 16831889	Standard	NM_000223		Approved	K12	uc002hvk.2	Q99456	OTTHUMG00000133369	ENST00000251643.4:c.542_545dupCACT	17.37:g.39022894_39022897dupAGTG	ENSP00000251643:p.Leu182fs						p.H182fs	NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN			1	568_569	-		Breast(137;0.000301)	182			Linker 1.|Rod.		B2R9E0	Frame_Shift_Ins	INS	ENST00000251643.4	37	c.545_546insCACT	CCDS11378.1																																																																																				0.371	KRT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257214.2	NM_000223		25	853						25	853	---	---	---	---
CCDC178	374864	broad.mit.edu	37	18	30913143	30913143	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr18:30913143delT	ENST00000383096.3	-	10	1056	c.874delA	c.(874-876)atgfs	p.M292fs	CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000402325.1_Frame_Shift_Del_p.M292fs|CCDC178_ENST00000403303.1_Frame_Shift_Del_p.M292fs|CCDC178_ENST00000579947.1_Frame_Shift_Del_p.M292fs|CCDC178_ENST00000300227.8_Frame_Shift_Del_p.M292fs|CCDC178_ENST00000406524.2_Frame_Shift_Del_p.M292fs|CCDC178_ENST00000583930.1_Frame_Shift_Del_p.M292fs			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	292								p.M292fs*3(2)									TTTACCTCCATTTTTTTTTTA	0.318																																						ENST00000383096.3																			2	Deletion - Frameshift(2)	p.M292fs*3(2)	lung(2)								c.(874-876)tgfs		coiled-coil domain containing 178			,	7,25,4232		0,0,7,1,23,2101	83.0	81.0	82.0		,	-10.6	0.0	18		83	4,25,8225		0,0,4,1,23,4099	no	codingComplex,codingComplex	C18orf34	NM_198995.2,NM_001105528.1	,	0,0,11,2,46,6200	A1A1,A1A2,A1R,A2A2,A2R,RR		0.3513,0.7505,0.4873	,	,	30913143	11,50,12457	2203	4300	6503	SO:0001589	frameshift_variant	374864							g.chr18:30913143delT	AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 34"""	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.874delA	18.37:g.30913143delT	ENSP00000372576:p.Met292fs					CCDC178_ENST00000402325.1_Frame_Shift_Del_p.M292fs|CCDC178_ENST00000406524.2_Frame_Shift_Del_p.M292fs|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000300227.8_Frame_Shift_Del_p.M292fs|CCDC178_ENST00000583930.1_Frame_Shift_Del_p.M292fs|CCDC178_ENST00000403303.1_Frame_Shift_Del_p.M292fs|CCDC178_ENST00000579947.1_Frame_Shift_Del_p.M292fs	p.M292fs							10	1056	-								A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Frame_Shift_Del	DEL	ENST00000383096.3	37	c.874delA	CCDS42424.1																																																																																				0.318	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2	NM_198995		8	283						8	283	---	---	---	---
CTC-548K16.2	0	broad.mit.edu	37	19	14473563	14473564	+	lincRNA	DEL	GG	GG	-	rs574876289|rs145512114|rs112094421|rs143051388	byFrequency	TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr19:14473563_14473564delGG	ENST00000586698.1	-	0	119																											aagaaagagagggaaggaagga	0.431														1149	0.229433	0.1566	0.2709	5008	,	,		12292	0.2837		0.1024	False		,,,				2504	0.3732					ENST00000586698.1																			0																																																			0							g.chr19:14473563_14473564delGG																													19.37:g.14473563_14473564delGG														0	119	-									RNA	DEL	ENST00000586698.1	37																																																																																						0.431	CTC-548K16.2-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000459814.1			2	4						2	4	---	---	---	---
PLAUR	5329	broad.mit.edu	37	19	44174235	44174237	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr19:44174235_44174237delAGC	ENST00000340093.3	-	1	265_267	c.36_38delGCT	c.(34-39)ctgctc>ctc	p.12_13LL>L	PLAUR_ENST00000601723.1_In_Frame_Del_p.12_13LL>L|PLAUR_ENST00000221264.4_In_Frame_Del_p.12_13LL>L|PLAUR_ENST00000339082.3_In_Frame_Del_p.12_13LL>L	NM_002659.3	NP_002650.1	Q03405	UPAR_HUMAN	plasminogen activator, urokinase receptor	12					attachment of GPI anchor to protein (GO:0016255)|blood coagulation (GO:0007596)|C-terminal protein lipidation (GO:0006501)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|chemotaxis (GO:0006935)|fibrinolysis (GO:0042730)|post-translational protein modification (GO:0043687)|regulation of proteolysis (GO:0030162)|signal transduction (GO:0007165)|urokinase plasminogen activator signaling pathway (GO:0038195)	anchored component of membrane (GO:0031225)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|receptor activity (GO:0004872)|urokinase plasminogen activator receptor activity (GO:0030377)			endometrium(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|urinary_tract(3)	20		Prostate(69;0.0153)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	GCAGGTGTGGagcagcagcagca	0.66																																						ENST00000221264.4																			0				endometrium(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|urinary_tract(3)	20						c.(34-39)ctc>ct		plasminogen activator, urokinase receptor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Urokinase(DB00013)																																			SO:0001651	inframe_deletion	5329				attachment of GPI anchor to protein|blood coagulation|C-terminal protein lipidation|cellular component movement|chemotaxis|fibrinolysis|regulation of proteolysis	anchored to membrane|cell surface|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|extrinsic to membrane|integral to membrane|plasma membrane	enzyme binding|U-plasminogen activator receptor activity	g.chr19:44174235_44174237delAGC		CCDS12628.1, CCDS33041.1, CCDS33042.1, CCDS74386.1	19q13	2012-03-15			ENSG00000011422	ENSG00000011422		"""CD molecules"""	9053	protein-coding gene	gene with protein product	"""urokinase-type plasminogen activator (uPA) receptor"", ""urokinase plasminogen activator surface receptor"""	173391					Standard	NM_002659		Approved	URKR, UPAR, CD87	uc002oxf.2	Q03405		ENST00000340093.3:c.36_38delGCT	19.37:g.44174244_44174246delAGC	ENSP00000339328:p.Leu13del					PLAUR_ENST00000339082.3_In_Frame_Del_p.LL12del|PLAUR_ENST00000601723.1_In_Frame_Del_p.LL12del|PLAUR_ENST00000340093.3_In_Frame_Del_p.LL12del	p.LL12del	NM_001005377.2	NP_001005377.1	Q03405	UPAR_HUMAN			1	462_464	-		Prostate(69;0.0153)	12					A8K409|Q12876|Q15845|Q16887|Q6IB52|Q9BWT0|Q9NYC8|Q9UD69|Q9UEA6|Q9UM92|Q9UMV0	In_Frame_Del	DEL	ENST00000340093.3	37	c.36_38delGCT	CCDS12628.1																																																																																				0.660	PLAUR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463571.1	NM_002659		7	546						7	546	---	---	---	---
LILRA4	23547	broad.mit.edu	37	19	54843564	54843565	+	IGR	INS	-	-	C	rs556721604|rs535654307|rs35566239|rs5828583	byFrequency	TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr19:54843564_54843565insC	ENST00000291759.4	-	0	1944				AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4						immune system process (GO:0002376)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		CGGCTGCTCCTCCCCAGGCTGC	0.723													?|CCCC|CCCCC|unsure	2000	0.399361	0.1437	0.3905	5008	,	,		12788	0.5903		0.4394	False		,,,				2504	0.5133					ENST00000507363.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr19:54843564_54843565insC	AF041261	CCDS12890.1	19q13.4	2013-01-11			ENSG00000239961	ENSG00000239961		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15503	protein-coding gene	gene with protein product		607517				10941842	Standard	NM_012276		Approved	ILT7, CD85g	uc002qfj.3	P59901	OTTHUMG00000065355		19.37:g.54843568_54843568dupC														0	430	-								Q32MC4	RNA	INS	ENST00000291759.4	37		CCDS12890.1																																																																																				0.723	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140229.2	NM_012276		6	13						6	13	---	---	---	---
TPTE	7179	broad.mit.edu	37	21	10944697	10944697	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr21:10944697delA	ENST00000361285.4	-	11	866	c.537delT	c.(535-537)tttfs	p.F179fs	TPTE_ENST00000342420.5_Frame_Shift_Del_p.F141fs|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000298232.7_Frame_Shift_Del_p.F161fs	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	179					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			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)		ACTTAATGTCAAAAAAAATGT	0.299																																						ENST00000298232.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.(481-483)ttfs		transmembrane phosphatase with tensin homology							157.0	168.0	164.0					21																	10944697		2203	4300	6503	SO:0001589	frameshift_variant	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10944697delA	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.537delT	21.37:g.10944697delA	ENSP00000355208:p.Phe179fs					TPTE_ENST00000342420.5_Frame_Shift_Del_p.F141fs|TPTE_ENST00000361285.4_Frame_Shift_Del_p.F179fs|TPTE_ENST00000415664.2_5'UTR	p.F161fs	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	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)	10	850	-			179					B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Frame_Shift_Del	DEL	ENST00000361285.4	37	c.483delT	CCDS13560.2																																																																																				0.299	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			13	1236						13	1236	---	---	---	---
FAM155B	27112	broad.mit.edu	37	X	68725671	68725672	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chrX:68725671_68725672insA	ENST00000252338.4	+	1	588_589	c.546_547insA	c.(547-549)aaafs	p.K183fs	AL158069.1_ENST00000579664.1_RNA	NM_015686.2	NP_056501.2	O75949	F155B_HUMAN	family with sequence similarity 155, member B	183						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						TCCCCTCCGCCAAAAAAAACTT	0.589																																						ENST00000252338.4																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						c.(544-549)gcaaaafs		family with sequence similarity 155, member B																																				SO:0001589	frameshift_variant	27112					integral to membrane		g.chrX:68725671_68725672insA	AF087142	CCDS35317.1	Xq13.1	2008-04-15	2008-04-15	2008-04-15	ENSG00000130054	ENSG00000130054			30701	protein-coding gene	gene with protein product			"""transmembrane protein 28"", ""chromosome X open reading frame 63"""	TMEM28, CXorf63			Standard	NM_015686		Approved	TED	uc004dxk.3	O75949	OTTHUMG00000021756	ENST00000252338.4:c.554dupA	X.37:g.68725679_68725679dupA	ENSP00000252338:p.Lys183fs						p.AK182fs	NM_015686.2	NP_056501.2	O75949	F155B_HUMAN			1	588_589	+			182					B1ALV6|B9EGK1|D3DVU1	Frame_Shift_Ins	INS	ENST00000252338.4	37	c.546_547insA	CCDS35317.1																																																																																				0.589	FAM155B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057037.1	NM_015686		8	342						8	342	---	---	---	---
