#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
PRMT8	56341	broad.mit.edu	37	12	3649787	3649787	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr12:3649787T>C	ENST00000382622.3	+	2	481	c.91T>C	c.(91-93)Tcc>Ccc	p.S31P	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.S22P	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	31					histone arginine methylation (GO:0034969)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CAGCCCCCCCTCCCAGCCCCC	0.652																																						ENST00000382622.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37						c.(91-93)Tcc>Ccc		protein arginine methyltransferase 8							41.0	51.0	47.0					12																	3649787		2199	4299	6498	SO:0001583	missense	56341				regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity	g.chr12:3649787T>C	AF263539	CCDS8521.2, CCDS58200.1	12p13.3	2006-03-03	2006-02-16	2006-02-16	ENSG00000111218	ENSG00000111218		"""Protein arginine methyltransferases"""	5188	protein-coding gene	gene with protein product		610086	"""HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"", ""HMT1 hnRNP methyltransferase-like 4 (S. cerevisiae)"""	HRMT1L3, HRMT1L4		16051612	Standard	NM_019854		Approved		uc001qmf.4	Q9NR22	OTTHUMG00000128493	ENST00000382622.3:c.91T>C	12.37:g.3649787T>C	ENSP00000372067:p.Ser31Pro					PRMT8_ENST00000452611.2_Missense_Mutation_p.S22P|PRMT8_ENST00000261252.4_3'UTR	p.S31P	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)		2	481	+			31					B2RDP0|Q8TBJ8	Missense_Mutation	SNP	ENST00000382622.3	37	c.91T>C	CCDS8521.2	.	.	.	.	.	.	.	.	.	.	T	15.44	2.834665	0.50951	.	.	ENSG00000111218	ENST00000452611;ENST00000382622	T;T	0.30182	1.65;1.54	5.52	-6.61	0.01818	.	0.606566	0.17318	N	0.178612	T	0.16171	0.0389	L	0.43152	1.355	0.28544	N	0.911948	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.09997	-1.0649	10	0.29301	T	0.29	.	3.8844	0.09091	0.1085:0.1587:0.4822:0.2506	.	22;31	Q9NR22-2;Q9NR22	.;ANM8_HUMAN	P	22;31	ENSP00000414507:S22P;ENSP00000372067:S31P	ENSP00000372067:S31P	S	+	1	0	PRMT8	3520048	0.000000	0.05858	0.001000	0.08648	0.946000	0.59487	-0.825000	0.04433	-0.996000	0.03455	0.460000	0.39030	TCC		0.652	PRMT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250297.2	NM_019854		26	546	0	0	0	1	0	26	546				
DOPEY2	9980	broad.mit.edu	37	21	37618297	37618297	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr21:37618297G>A	ENST00000399151.3	+	19	4104	c.4019G>A	c.(4018-4020)gGc>gAc	p.G1340D		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1340					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GACATTCTCGGCAACCGGGAC	0.552																																						ENST00000399151.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(4018-4020)gGc>gAc		dopey family member 2							115.0	105.0	109.0					21																	37618297		2203	4300	6503	SO:0001583	missense	9980				endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane		g.chr21:37618297G>A	AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.4019G>A	21.37:g.37618297G>A	ENSP00000382104:p.Gly1340Asp						p.G1340D	NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN			19	4104	+			1340					D3DSG5|Q6PJQ7|Q9UEZ3	Missense_Mutation	SNP	ENST00000399151.3	37	c.4019G>A	CCDS13643.1	.	.	.	.	.	.	.	.	.	.	G	19.49	3.838266	0.71373	.	.	ENSG00000142197	ENST00000399151	T	0.39787	1.06	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.67692	0.2920	M	0.81497	2.545	0.54753	D	0.99998	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.989	T	0.69932	-0.5011	10	0.49607	T	0.09	.	18.8976	0.92430	0.0:0.0:1.0:0.0	.	1340;1340	Q9Y3R5-2;Q9Y3R5	.;DOP2_HUMAN	D	1340	ENSP00000382104:G1340D	ENSP00000382104:G1340D	G	+	2	0	DOPEY2	36540167	1.000000	0.71417	0.998000	0.56505	0.951000	0.60555	5.137000	0.64789	2.552000	0.86080	0.655000	0.94253	GGC		0.552	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1	NM_005128		6	689	0	0	0	1	0	6	689				
FBXO22	26263	broad.mit.edu	37	15	76196872	76196872	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr15:76196872C>T	ENST00000308275.3	+	2	286	c.181C>T	c.(181-183)Cgg>Tgg	p.R61W	FBXO22_ENST00000453211.2_Missense_Mutation_p.R61W|FBXO22_ENST00000540507.1_Intron|FBXO22_ENST00000565131.1_3'UTR	NM_147188.2	NP_671717.1	Q8NEZ5	FBX22_HUMAN	F-box protein 22	61	F-box.				cellular protein modification process (GO:0006464)|cellular response to starvation (GO:0009267)|nucleocytoplasmic transport (GO:0006913)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein polyubiquitination (GO:0000209)|regulation of skeletal muscle fiber development (GO:0048742)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						CAGAGTATTGCGGACCCATCG	0.612																																						ENST00000308275.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(181-183)Cgg>Tgg		F-box protein 22							142.0	120.0	128.0					15																	76196872		2197	4294	6491	SO:0001583	missense	26263				ubiquitin-dependent protein catabolic process		ubiquitin-protein ligase activity	g.chr15:76196872C>T	AF174602	CCDS10287.1, CCDS45310.1	15q23	2008-10-03	2004-06-15		ENSG00000167196	ENSG00000167196		"""F-boxes /  ""other"""""	13593	protein-coding gene	gene with protein product	"""FIST domain containing 1"""	609096	"""F-box only protein 22"""			10531035, 10531037, 17855421	Standard	NM_147188		Approved	FBX22, FISTC1	uc002bbk.3	Q8NEZ5	OTTHUMG00000142841	ENST00000308275.3:c.181C>T	15.37:g.76196872C>T	ENSP00000307833:p.Arg61Trp					FBXO22_ENST00000540507.1_Intron|FBXO22_ENST00000565131.1_3'UTR|FBXO22_ENST00000453211.2_Missense_Mutation_p.R61W	p.R61W	NM_147188.2	NP_671717.1	Q8NEZ5	FBX22_HUMAN			2	286	+			61			F-box.		Q0D2P8|Q6PIL5|Q8IXW3|Q9H824|Q9UKC0	Missense_Mutation	SNP	ENST00000308275.3	37	c.181C>T	CCDS10287.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.195308	0.78902	.	.	ENSG00000167196	ENST00000308275;ENST00000453211	T	0.23754	1.89	4.07	3.07	0.35406	F-box domain, cyclin-like (2);	0.000000	0.85682	D	0.000000	T	0.36331	0.0963	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.987	T	0.15350	-1.0440	10	0.87932	D	0	-15.7903	10.6956	0.45896	0.2919:0.7081:0.0:0.0	.	61;61	Q8NEZ5;Q8NEZ5-3	FBX22_HUMAN;.	W	61	ENSP00000307833:R61W	ENSP00000307833:R61W	R	+	1	2	FBXO22	73983927	1.000000	0.71417	0.983000	0.44433	0.977000	0.68977	2.157000	0.42320	2.250000	0.74265	0.563000	0.77884	CGG		0.612	FBXO22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286477.2	NM_147188		5	667	0	0	0	1	0	5	667				
CHD3	1107	broad.mit.edu	37	17	7810228	7810228	+	Silent	SNP	G	G	A			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr17:7810228G>A	ENST00000330494.7	+	30	4695	c.4545G>A	c.(4543-4545)ccG>ccA	p.P1515P	CHD3_ENST00000380358.4_Silent_p.P1574P|SCARNA21_ENST00000517026.1_RNA|CHD3_ENST00000358181.4_Silent_p.P1515P	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1515					centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.P1515P(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				GGTCAATGCCGGAACTGATGC	0.587																																						ENST00000380358.4																			1	Substitution - coding silent(1)	p.P1515P(1)	kidney(1)	breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65						c.(4720-4722)ccG>ccA		chromodomain helicase DNA binding protein 3							125.0	124.0	124.0					17																	7810228		2203	4300	6503	SO:0001819	synonymous_variant	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7810228G>A	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.4545G>A	17.37:g.7810228G>A						CHD3_ENST00000358181.4_Silent_p.P1515P|CHD3_ENST00000330494.7_Silent_p.P1515P	p.P1574P	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN			30	4723	+		Prostate(122;0.202)	1515			Required for interaction with PCNT.		D3DTQ9|E9PG89|Q9Y4I0	Silent	SNP	ENST00000330494.7	37	c.4722G>A	CCDS32554.1																																																																																				0.587	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		6	684	0	0	0	1	0	6	684				
KRT13	3860	broad.mit.edu	37	17	39661661	39661661	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr17:39661661C>T	ENST00000246635.3	-	1	188	c.142G>A	c.(142-144)Ggc>Agc	p.G48S	AC019349.5_ENST00000411759.1_RNA|KRT13_ENST00000587544.1_Missense_Mutation_p.G48S|KRT13_ENST00000336861.3_Missense_Mutation_p.G48S|KRT13_ENST00000587118.1_5'Flank	NM_153490.2	NP_705694	P13646	K1C13_HUMAN	keratin 13	48	Gly-rich.|Head.				cellular response to retinoic acid (GO:0071300)|cytoskeleton organization (GO:0007010)|response to radiation (GO:0009314)|tongue morphogenesis (GO:0043587)	extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				cAGCTCACGCCGCCTCCATAG	0.622																																						ENST00000246635.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33						c.(142-144)Ggc>Agc		keratin 13							112.0	115.0	114.0					17																	39661661		2203	4300	6503	SO:0001583	missense	3860				epidermis development	intermediate filament	structural molecule activity	g.chr17:39661661C>T		CCDS11396.1, CCDS11397.1	17q21.2	2013-06-20			ENSG00000171401	ENSG00000171401		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6415	protein-coding gene	gene with protein product	"""keratin, type I cytoskeletal 13"", ""cytokeratin 13"""	148065				16831889	Standard	NM_153490		Approved	K13, CK13, MGC3781, MGC161462	uc002hwu.1	P13646	OTTHUMG00000133434	ENST00000246635.3:c.142G>A	17.37:g.39661661C>T	ENSP00000246635:p.Gly48Ser					KRT13_ENST00000336861.3_Missense_Mutation_p.G48S|KRT13_ENST00000587544.1_Missense_Mutation_p.G48S	p.G48S	NM_153490.2	NP_705694.2	P13646	K1C13_HUMAN			1	188	-		Breast(137;0.000286)	48			Gly-rich.|Head.		Q53G54|Q6AZK5|Q8N240	Missense_Mutation	SNP	ENST00000246635.3	37	c.142G>A	CCDS11396.1	.	.	.	.	.	.	.	.	.	.	C	0.280	-0.987263	0.02180	.	.	ENSG00000171401	ENST00000246635;ENST00000336861;ENST00000157775	D;D	0.89485	-2.52;-2.52	4.82	4.82	0.62117	.	0.134022	0.33457	N	0.004886	T	0.76586	0.4008	L	0.35341	1.055	0.09310	N	1	P;P;P	0.42871	0.697;0.697;0.792	B;B;B	0.32624	0.11;0.11;0.149	T	0.67795	-0.5578	10	0.07813	T	0.8	.	9.3512	0.38140	0.0:0.8545:0.0:0.1455	.	48;48;48	P13646-2;P13646-3;P13646	.;.;K1C13_HUMAN	S	48	ENSP00000246635:G48S;ENSP00000336604:G48S	ENSP00000157775:G48S	G	-	1	0	KRT13	36915187	0.006000	0.16342	0.312000	0.25196	0.027000	0.11550	0.771000	0.26633	2.509000	0.84616	0.655000	0.94253	GGC		0.622	KRT13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257297.1	NM_153490		9	356	0	0	0	1	0	9	356				
OR2T4	127074	broad.mit.edu	37	1	248524937	248524937	+	Missense_Mutation	SNP	A	A	T			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr1:248524937A>T	ENST00000366475.1	+	1	55	c.55A>T	c.(55-57)Atg>Ttg	p.M19L		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	19						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTTCATCCTGATGGGACTCTT	0.488																																						ENST00000366475.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56						c.(55-57)Atg>Ttg		olfactory receptor, family 2, subfamily T, member 4							94.0	84.0	88.0					1																	248524937		2203	4300	6503	SO:0001583	missense	127074				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248524937A>T	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"""GPCR / Class A : Olfactory receptors"""	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.55A>T	1.37:g.248524937A>T	ENSP00000355431:p.Met19Leu						p.M19L	NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	55	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		19					Q6IEZ8	Missense_Mutation	SNP	ENST00000366475.1	37	c.55A>T	CCDS31113.1	.	.	.	.	.	.	.	.	.	.	A	8.156	0.788354	0.16258	.	.	ENSG00000196944	ENST00000366475	T	0.01464	4.86	1.18	-0.177	0.13307	.	.	.	.	.	T	0.00875	0.0029	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.48151	-0.9060	9	0.07990	T	0.79	.	3.8757	0.09056	0.685:0.0:0.315:0.0	.	19	Q8NH00	OR2T4_HUMAN	L	19	ENSP00000355431:M19L	ENSP00000355431:M19L	M	+	1	0	OR2T4	246591560	0.000000	0.05858	0.143000	0.22291	0.062000	0.15995	-0.693000	0.05121	-0.020000	0.14032	0.381000	0.24937	ATG		0.488	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		6	382	0	0	0	1	0	6	382				
TP53	7157	broad.mit.edu	37	17	7578550	7578550	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr17:7578550G>A	ENST00000269305.4	-	5	569	c.380C>T	c.(379-381)tCc>tTc	p.S127F	TP53_ENST00000359597.4_Missense_Mutation_p.S127F|TP53_ENST00000445888.2_Missense_Mutation_p.S127F|TP53_ENST00000413465.2_Missense_Mutation_p.S127F|TP53_ENST00000455263.2_Missense_Mutation_p.S127F|TP53_ENST00000420246.2_Missense_Mutation_p.S127F|TP53_ENST00000574684.1_5'Flank	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	127	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		S -> C (in a sporadic cancer; somatic mutation).|S -> F (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.S127F(23)|p.0?(8)|p.S127Y(8)|p.S127C(7)|p.Y126_K132delYSPALNK(6)|p.A129fs*20(3)|p.Y126_N131delYSPALN(3)|p.S34C(2)|p.P128fs*42(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.P128fs*18(1)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.P13fs*18(1)|p.?(1)|p.S34F(1)|p.A36fs*20(1)|p.S127fs*42(1)|p.Y126fs*18(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)	GAGGGCAGGGGAGTACTGTAG	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		73	Substitution - Missense(41)|Deletion - In frame(10)|Deletion - Frameshift(9)|Whole gene deletion(8)|Insertion - Frameshift(4)|Unknown(1)	p.S127F(23)|p.0?(8)|p.S127Y(8)|p.S127C(7)|p.Y126_K132delYSPALNK(6)|p.A129fs*20(3)|p.Y126_N131delYSPALN(3)|p.S34C(2)|p.P128fs*42(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.P128fs*18(1)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.P13fs*18(1)|p.?(1)|p.S34F(1)|p.A36fs*20(1)|p.S127fs*42(1)|p.Y126fs*18(1)	lung(13)|ovary(8)|upper_aerodigestive_tract(7)|large_intestine(6)|central_nervous_system(6)|skin(5)|NS(4)|prostate(4)|bone(4)|urinary_tract(3)|breast(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(2)|liver(2)|oesophagus(2)|biliary_tract(1)|pancreas(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						c.(379-381)tCc>tTc	Other conserved DNA damage response genes	tumor protein p53							44.0	44.0	44.0					17																	7578550		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.chr17:7578550G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.380C>T	17.37:g.7578550G>A	ENSP00000269305:p.Ser127Phe	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_ENST00000269305.4_Missense_Mutation_p.S127F|TP53_ENST00000445888.2_Missense_Mutation_p.S127F|TP53_ENST00000413465.2_Missense_Mutation_p.S127F|TP53_ENST00000359597.4_Missense_Mutation_p.S127F|TP53_ENST00000455263.2_Missense_Mutation_p.S127F	p.S127F	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)	5	512	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	127		S -> C (in a sporadic cancer; somatic mutation).|S -> F (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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.380C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.338648	0.81911	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793;ENST00000503591	D;D;D;D;D;D;D;D;D	0.99940	-8.4;-8.4;-8.4;-8.4;-8.4;-8.4;-8.4;-8.4;-8.4	5.48	4.51	0.55191	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	0.99933	0.9970	M	0.91038	3.17	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;0.995;1.0;1.0;1.0	D	0.95614	0.8675	10	0.87932	D	0	-30.2503	12.2742	0.54724	0.0828:0.0:0.9172:0.0	.	88;127;127;34;127;127;127	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	F	127;127;127;127;127;127;116;34;34;127;127	ENSP00000410739:S127F;ENSP00000352610:S127F;ENSP00000269305:S127F;ENSP00000398846:S127F;ENSP00000391127:S127F;ENSP00000391478:S127F;ENSP00000423862:S34F;ENSP00000424104:S127F;ENSP00000426252:S127F	ENSP00000269305:S127F	S	-	2	0	TP53	7519275	1.000000	0.71417	0.890000	0.34922	0.931000	0.56810	9.763000	0.98947	1.448000	0.47680	0.655000	0.94253	TCC		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		58	104	0	0	0	1	0	58	104				
SDHAP3	728609	broad.mit.edu	37	5	1593264	1593264	+	lincRNA	SNP	C	C	T	rs111700178		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr5:1593264C>T	ENST00000605200.1	+	0	0				SDHAP3_ENST00000436493.2_RNA																							AGGGCACATGCCTGACCAAAG	0.557																																						ENST00000436493.2																			0																																																			0							g.chr5:1593264C>T																													5.37:g.1593264C>T														0	361	-									RNA	SNP	ENST00000605200.1	37																																																																																						0.557	CTD-2012J19.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000469651.1			23	193	0	0	0	1	0	23	193				
RPL28	6158	broad.mit.edu	37	19	55899328	55899328	+	Missense_Mutation	SNP	G	G	A	rs34259396		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr19:55899328G>A	ENST00000344063.2	+	4	865	c.236G>A	c.(235-237)cGg>cAg	p.R79Q	RPL28_ENST00000560055.1_Missense_Mutation_p.R79Q|RPL28_ENST00000558131.1_Missense_Mutation_p.G73R|RPL28_ENST00000558815.1_Missense_Mutation_p.R79Q|RPL28_ENST00000458349.2_Missense_Mutation_p.R79Q|RPL28_ENST00000559463.1_Missense_Mutation_p.R79Q|RPL28_ENST00000560583.1_Missense_Mutation_p.R79Q			P46779	RL28_HUMAN	ribosomal protein L28	79					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.R79L(2)		endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6	Breast(117;0.191)	Renal(1328;0.245)	LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)		TCCTATGTGCGGACCACCATC	0.612																																						ENST00000344063.2																			2	Substitution - Missense(2)	p.R79L(2)	lung(2)	endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6						c.(235-237)cGg>cAg		ribosomal protein L28							87.0	85.0	86.0					19																	55899328		2203	4300	6503	SO:0001583	missense	6158				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome	g.chr19:55899328G>A	U14969	CCDS12924.1, CCDS46189.1, CCDS46190.1, CCDS46191.1, CCDS46192.1	19q13.4	2011-04-06				ENSG00000108107		"""L ribosomal proteins"""	10330	protein-coding gene	gene with protein product	"""60S ribosomal protein L28"""	603638				7772601, 9582194	Standard	NM_001136134		Approved	FLJ43307, L28	uc010yga.2	P46779		ENST00000344063.2:c.236G>A	19.37:g.55899328G>A	ENSP00000342787:p.Arg79Gln					RPL28_ENST00000558131.1_Missense_Mutation_p.G73R|RPL28_ENST00000560055.1_Missense_Mutation_p.R79Q|RPL28_ENST00000560583.1_Missense_Mutation_p.R79Q|RPL28_ENST00000558815.1_Missense_Mutation_p.R79Q|RPL28_ENST00000458349.2_Missense_Mutation_p.R79Q|RPL28_ENST00000559463.1_Missense_Mutation_p.R79Q	p.R79Q			P46779	RL28_HUMAN	LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)	4	865	+	Breast(117;0.191)	Renal(1328;0.245)	79					B2R4A6|B4DEP9|C9JB50|E9PB24|G5E9L2|Q6IAY0|Q96FX1|Q9BWQ0	Missense_Mutation	SNP	ENST00000344063.2	37	c.236G>A	CCDS12924.1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.170899	0.38315	.	.	ENSG00000108107	ENST00000344063;ENST00000426763;ENST00000458349	T;T	0.44482	0.92;0.92	3.44	3.44	0.39384	.	0.209809	0.38005	N	0.001845	T	0.28134	0.0694	L	0.37630	1.12	0.28876	N	0.89467	P;P;B	0.43314	0.637;0.803;0.116	B;B;B	0.37692	0.083;0.256;0.026	T	0.17018	-1.0383	10	0.40728	T	0.16	.	7.3219	0.26531	0.129:0.0:0.871:0.0	.	79;79;79	B4DEP9;E9PB24;P46779	.;.;RL28_HUMAN	Q	79	ENSP00000342787:R79Q;ENSP00000401450:R79Q	ENSP00000342787:R79Q	R	+	2	0	RPL28	60591140	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	5.627000	0.67784	1.864000	0.54056	0.462000	0.41574	CGG		0.612	RPL28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416277.2	NM_000991		7	709	0	0	0	1	0	7	709				
GOLGA6B	55889	broad.mit.edu	37	15	72954612	72954612	+	Silent	SNP	G	G	A	rs201791007		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr15:72954612G>A	ENST00000421285.3	+	11	867	c.867G>A	c.(865-867)gcG>gcA	p.A289A	RN7SL853P_ENST00000477951.2_RNA	NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN	golgin A6 family, member B	289						Golgi apparatus (GO:0005794)		p.A289A(1)		NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						CATCCCTGGCGCCCCCAGCAG	0.537																																						ENST00000421285.3																			1	Substitution - coding silent(1)	p.A289A(1)	upper_aerodigestive_tract(1)	NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						c.(865-867)gcG>gcA		golgin A6 family, member B							32.0	31.0	32.0					15																	72954612		1846	3747	5593	SO:0001819	synonymous_variant	55889							g.chr15:72954612G>A		CCDS10245.2	15q24.1	2011-10-25	2010-02-12		ENSG00000215186	ENSG00000215186			32205	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6B"""				Standard	XM_006720604		Approved		uc010uks.1	A6NDN3	OTTHUMG00000133511	ENST00000421285.3:c.867G>A	15.37:g.72954612G>A							p.A289A	NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN			11	867	+			289					A8MYY7	Silent	SNP	ENST00000421285.3	37	c.867G>A	CCDS10245.2																																																																																				0.537	GOLGA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257474.4	NM_018652		5	262	0	0	0	1	0	5	262				
SEC14L1	6397	broad.mit.edu	37	17	75202351	75202351	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr17:75202351C>T	ENST00000413679.2	+	12	1513	c.1210C>T	c.(1210-1212)Cgc>Tgc	p.R404C	SEC14L1_ENST00000430767.4_Missense_Mutation_p.R404C|SEC14L1_ENST00000436233.4_Missense_Mutation_p.R404C|SEC14L1_ENST00000392476.2_Missense_Mutation_p.R404C|SEC14L1_ENST00000591437.1_Missense_Mutation_p.R370C|SEC14L1_ENST00000585618.1_Missense_Mutation_p.R404C|SEC14L1_ENST00000431431.2_Missense_Mutation_p.R370C|SEC14L1_ENST00000443798.4_Missense_Mutation_p.R404C	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	404	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						GCTGAACATGCGCCACTTGTG	0.567																																						ENST00000413679.2																			0				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						c.(1210-1212)Cgc>Tgc		SEC14-like 1 (S. cerevisiae)							94.0	76.0	82.0					17																	75202351		2203	4300	6503	SO:0001583	missense	6397				transport	Golgi apparatus|integral to membrane	binding	g.chr17:75202351C>T	D67029	CCDS11752.1, CCDS42385.1, CCDS45789.1	17q25.2	2008-02-01	2001-11-28			ENSG00000129657			10698	protein-coding gene	gene with protein product		601504	"""SEC14 (S. cerevisiae)-like 1"""	SEC14L		8697811	Standard	NM_001143998		Approved	PRELID4A	uc002jto.3	Q92503		ENST00000413679.2:c.1210C>T	17.37:g.75202351C>T	ENSP00000394716:p.Arg404Cys					SEC14L1_ENST00000591437.1_Missense_Mutation_p.R370C|SEC14L1_ENST00000392476.2_Missense_Mutation_p.R404C|SEC14L1_ENST00000436233.4_Missense_Mutation_p.R404C|SEC14L1_ENST00000443798.4_Missense_Mutation_p.R404C|SEC14L1_ENST00000430767.4_Missense_Mutation_p.R404C|SEC14L1_ENST00000585618.1_Missense_Mutation_p.R404C|SEC14L1_ENST00000431431.2_Missense_Mutation_p.R370C	p.R404C	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470.1|NP_001137471.1|NP_002994.3	Q92503	S14L1_HUMAN			12	1513	+			404			CRAL-TRIO.		A8K4E8|B4DDI5|D5G3K1|Q99780	Missense_Mutation	SNP	ENST00000413679.2	37	c.1210C>T	CCDS11752.1	.	.	.	.	.	.	.	.	.	.	C	19.55	3.848721	0.71603	.	.	ENSG00000129657	ENST00000392476;ENST00000443798;ENST00000436233;ENST00000430767;ENST00000413679;ENST00000431431	T;T;T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98;-0.98;-0.98	5.31	3.18	0.36537	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.000000	0.85682	D	0.000000	D	0.88459	0.6442	M	0.92122	3.275	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.91378	0.5125	10	0.87932	D	0	-46.6044	14.1214	0.65189	0.4118:0.5882:0.0:0.0	.	404;404	Q92503-2;Q92503	.;S14L1_HUMAN	C	404;404;404;404;404;370	ENSP00000376268:R404C;ENSP00000406030:R404C;ENSP00000390392:R404C;ENSP00000408169:R404C;ENSP00000394716:R404C;ENSP00000389838:R370C	ENSP00000376268:R404C	R	+	1	0	SEC14L1	72713946	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	2.122000	0.41987	1.348000	0.45733	0.655000	0.94253	CGC		0.567	SEC14L1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000436240.1	NM_003003		5	302	0	0	0	1	0	5	302				
RNF5	6048	broad.mit.edu	37	6	32147865	32147865	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr6:32147865C>T	ENST00000375094.3	+	5	565	c.407C>T	c.(406-408)aCc>aTc	p.T136I	RNF5_ENST00000427134.2_Missense_Mutation_p.T136I|AGPAT1_ENST00000336984.6_5'Flank|AGPAT1_ENST00000375104.2_5'Flank|AGPAT1_ENST00000395497.1_5'Flank|AGPAT1_ENST00000490711.1_5'Flank	NM_006913.3	NP_008844.1	Q99942	RNF5_HUMAN	ring finger protein 5, E3 ubiquitin protein ligase	136					cellular protein catabolic process (GO:0044257)|ER-associated misfolded protein catabolic process (GO:0071712)|negative regulation of autophagy (GO:0010507)|protein destabilization (GO:0031648)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|regulation of autophagic vacuole assembly (GO:2000785)|response to bacterium (GO:0009617)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T136I(3)		endometrium(1)|lung(7)|urinary_tract(2)	10						TTTTTCACCACCGTCTTCAAT	0.557																																						ENST00000427134.2																			3	Substitution - Missense(3)	p.T136I(3)	lung(3)	endometrium(1)|lung(7)|urinary_tract(2)	10						c.(406-408)aCc>aTc		ring finger protein 5, E3 ubiquitin protein ligase							151.0	153.0	152.0					6																	32147865		1511	2709	4220	SO:0001583	missense	6048				ER-associated misfolded protein catabolic process|protein K48-linked ubiquitination|protein K63-linked ubiquitination	endoplasmic reticulum membrane|integral to membrane|mitochondrial membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:32147865C>T	U89336	CCDS4745.1	6p21.31	2013-01-09	2012-02-23			ENSG00000204308		"""RING-type (C3HC4) zinc fingers"""	10068	protein-coding gene	gene with protein product		602677	"""ring finger protein 5"""			9533025	Standard	NM_006913		Approved	NG2, G16, RING5, RMA1	uc031snv.1	Q99942	OTTHUMG00000031093	ENST00000375094.3:c.407C>T	6.37:g.32147865C>T	ENSP00000364235:p.Thr136Ile					RNF5_ENST00000375094.3_Missense_Mutation_p.T136I	p.T136I			Q99942	RNF5_HUMAN			5	422	+			136					A2BFI6|B2R4K3|Q0VDB7|Q9UMQ2	Missense_Mutation	SNP	ENST00000375094.3	37	c.407C>T	CCDS4745.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.403896	0.83230	.	.	ENSG00000204308	ENST00000375094;ENST00000427134	D;D	0.93604	-3.25;-3.25	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	D	0.86723	0.6001	L	0.47716	1.5	0.58432	D	0.999999	B	0.33345	0.409	B	0.27715	0.082	D	0.86266	0.1658	10	0.37606	T	0.19	-2.0092	16.9524	0.86249	0.0:1.0:0.0:0.0	.	136	Q99942	RNF5_HUMAN	I	136	ENSP00000364235:T136I;ENSP00000407656:T136I	ENSP00000364235:T136I	T	+	2	0	RNF5	32255843	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	6.897000	0.75671	2.666000	0.90696	0.655000	0.94253	ACC		0.557	RNF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076133.2	NM_006913		7	1121	0	0	0	1	0	7	1121				
FAT1	2195	broad.mit.edu	37	4	187540378	187540378	+	Silent	SNP	C	C	T			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr4:187540378C>T	ENST00000441802.2	-	10	7571	c.7362G>A	c.(7360-7362)cgG>cgA	p.R2454R		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2454	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TCAGGGCGTGCCGGTGCAGGT	0.433										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(7360-7362)cgG>cgA		FAT atypical cadherin 1							169.0	175.0	173.0					4																	187540378		2049	4187	6236	SO:0001819	synonymous_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187540378C>T	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.7362G>A	4.37:g.187540378C>T		HNSCC(5;0.00058)					p.R2454R	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			10	7571	-			2454			Cadherin 22.			Silent	SNP	ENST00000441802.2	37	c.7362G>A	CCDS47177.1																																																																																				0.433	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		7	1032	0	0	0	1	0	7	1032				
GSS	2937	broad.mit.edu	37	20	33519827	33519827	+	Missense_Mutation	SNP	C	C	T	rs199916857	byFrequency	TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr20:33519827C>T	ENST00000216951.2	-	10	1042	c.944G>A	c.(943-945)gGc>gAc	p.G315D	GSS_ENST00000541098.1_Missense_Mutation_p.G187D|GSS_ENST00000451957.2_Missense_Mutation_p.G204D	NM_000178.2	NP_000169.1	P48637	GSHB_HUMAN	glutathione synthetase	315					aging (GO:0007568)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|nervous system development (GO:0007399)|response to amino acid (GO:0043200)|response to cadmium ion (GO:0046686)|response to nutrient levels (GO:0031667)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|glutathione binding (GO:0043295)|glutathione synthase activity (GO:0004363)|glycine binding (GO:0016594)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.035)		Acetylcysteine(DB06151)|Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	CTCCAGCATGCCCGGCCTGCT	0.632																																						ENST00000216951.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17						c.(943-945)gGc>gAc		glutathione synthetase	Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)						76.0	72.0	74.0					20																	33519827		2203	4300	6503	SO:0001583	missense	2937				nervous system development|response to oxidative stress|xenobiotic metabolic process	cytosol	ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity	g.chr20:33519827C>T		CCDS13245.1	20q11.2	1996-06-18			ENSG00000100983	ENSG00000100983	6.3.2.3		4624	protein-coding gene	gene with protein product		601002				8825653	Standard	NM_000178		Approved		uc002xbg.3	P48637	OTTHUMG00000032315	ENST00000216951.2:c.944G>A	20.37:g.33519827C>T	ENSP00000216951:p.Gly315Asp					GSS_ENST00000451957.2_Missense_Mutation_p.G204D|GSS_ENST00000541098.1_Missense_Mutation_p.G187D	p.G315D	NM_000178.2	NP_000169.1	P48637	GSHB_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.035)		10	1042	-			315					B2R697|B6F210|E1P5P9|Q4TTD9	Missense_Mutation	SNP	ENST00000216951.2	37	c.944G>A	CCDS13245.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.364901	0.82463	.	.	ENSG00000100983	ENST00000216951;ENST00000541098;ENST00000451957	D;D;D	0.91577	-2.87;-2.87;-2.87	5.65	5.65	0.86999	Glutathione synthase, alpha-helical, eukaryotic (1);	0.095693	0.64402	D	0.000001	D	0.93354	0.7881	L	0.58101	1.795	0.80722	D	1	P;D	0.76494	0.928;0.999	P;D	0.70487	0.671;0.969	D	0.92282	0.5834	10	0.40728	T	0.16	-15.3197	12.9878	0.58602	0.0:0.9264:0.0:0.0736	.	204;315	B6F210;P48637	.;GSHB_HUMAN	D	315;187;204	ENSP00000216951:G315D;ENSP00000439744:G187D;ENSP00000407517:G204D	ENSP00000216951:G315D	G	-	2	0	GSS	32983488	1.000000	0.71417	0.290000	0.24890	0.973000	0.67179	6.051000	0.71072	2.665000	0.90641	0.650000	0.86243	GGC		0.632	GSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078821.2			6	639	0	0	0	1	0	6	639				
LAMA1	284217	broad.mit.edu	37	18	7044806	7044806	+	Silent	SNP	G	G	A			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr18:7044806G>A	ENST00000389658.3	-	7	984	c.891C>T	c.(889-891)tgC>tgT	p.C297C		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	297	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				AGCTCTCCCCGCAAGTATTAT	0.448																																						ENST00000389658.3																			0				NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(889-891)tgC>tgT		laminin, alpha 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						118.0	113.0	115.0					18																	7044806		2203	4300	6503	SO:0001819	synonymous_variant	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:7044806G>A	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.891C>T	18.37:g.7044806G>A							p.C297C	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN			7	984	-		Colorectal(10;0.172)	297			Laminin EGF-like 1.			Silent	SNP	ENST00000389658.3	37	c.891C>T	CCDS32787.1																																																																																				0.448	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		6	798	0	0	0	1	0	6	798				
GTF2I	2969	broad.mit.edu	37	7	74148279	74148279	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr7:74148279A>G	ENST00000324896.4	+	16	1708	c.1319A>G	c.(1318-1320)aAt>aGt	p.N440S	GTF2I_ENST00000416070.1_Missense_Mutation_p.N399S|GTF2I_ENST00000353920.4_Missense_Mutation_p.N420S|GTF2I_ENST00000346152.4_Missense_Mutation_p.N419S	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	440					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.N440S(7)		NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						GAGCTTCTGAATTCAACACGT	0.358																																						ENST00000324896.4																			7	Substitution - Missense(7)	p.N440S(7)	endometrium(7)	NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1318-1320)aAt>aGt		general transcription factor IIi							111.0	102.0	105.0					7																	74148279		2201	4300	6501	SO:0001583	missense	2969				negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr7:74148279A>G	U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"""General transcription factors"""	4659	protein-coding gene	gene with protein product		601679	"""general transcription factor II, i"""	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.1319A>G	7.37:g.74148279A>G	ENSP00000322542:p.Asn440Ser					GTF2I_ENST00000346152.4_Missense_Mutation_p.N419S|GTF2I_ENST00000416070.1_Missense_Mutation_p.N399S|GTF2I_ENST00000353920.4_Missense_Mutation_p.N420S	p.N440S	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN			16	1708	+			440					O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	ENST00000324896.4	37	c.1319A>G	CCDS5573.1	.	.	.	.	.	.	.	.	.	.	A	16.30	3.085752	0.55861	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070	T;T;T;T	0.35236	1.34;1.32;1.32;1.32	4.07	4.07	0.47477	.	0.000000	0.64402	D	0.000002	T	0.40670	0.1126	N	0.16368	0.405	0.80722	D	1	D;D;D;D;D	0.71674	0.997;0.971;0.99;0.998;0.982	D;P;D;D;D	0.76071	0.97;0.717;0.979;0.987;0.952	T	0.31052	-0.9957	10	0.45353	T	0.12	-19.2887	11.2081	0.48782	1.0:0.0:0.0:0.0	.	418;399;420;419;440	Q499G6;P78347-2;P78347-3;P78347-4;P78347	.;.;.;.;GTF2I_HUMAN	S	440;435;420;419;399	ENSP00000322542:N440S;ENSP00000322671:N420S;ENSP00000322599:N419S;ENSP00000387651:N399S	ENSP00000322542:N440S	N	+	2	0	GTF2I	73786215	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.703000	0.54808	1.839000	0.53478	0.477000	0.44152	AAT		0.358	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252708.1	NM_032999		5	728	0	0	0	1	0	5	728				
KMT2C	58508	broad.mit.edu	37	7	151970855	151970855	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr7:151970855G>C	ENST00000262189.6	-	7	1165	c.947C>G	c.(946-948)aCc>aGc	p.T316S	KMT2C_ENST00000355193.2_Missense_Mutation_p.T316S	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	316			T -> S (in dbSNP:rs10454320).		histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.T316S(2)									ATCCTGAAAGGTGCCGGCTCC	0.433																																						ENST00000355193.2																			2	Substitution - Missense(2)	p.T316S(2)	endometrium(2)								c.(946-948)aCc>aGc		lysine (K)-specific methyltransferase 2C							267.0	249.0	255.0					7																	151970855		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151970855G>C	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.947C>G	7.37:g.151970855G>C	ENSP00000262189:p.Thr316Ser					KMT2C_ENST00000262189.6_Missense_Mutation_p.T316S	p.T316S							7	1165	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.947C>G	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	13.33	2.204941	0.38905	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	T;T	0.70631	-0.5;-0.5	4.87	3.99	0.46301	Zinc finger, PHD-type (1);	0.000000	0.45867	D	0.000333	T	0.52370	0.1730	N	0.04994	-0.135	0.80722	D	1	P	0.39717	0.684	P	0.45099	0.469	T	0.49409	-0.8943	10	0.08381	T	0.77	.	13.4802	0.61332	0.0763:0.0:0.9237:0.0	.	316	Q8NEZ4	MLL3_HUMAN	S	316	ENSP00000262189:T316S;ENSP00000347325:T316S	ENSP00000262189:T316S	T	-	2	0	MLL3	151601788	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.781000	0.99029	1.196000	0.43129	0.650000	0.86243	ACC		0.433	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			8	1291	0	0	0	1	0	8	1291				
LAS1L	81887	broad.mit.edu	37	X	64753566	64753566	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chrX:64753566G>A	ENST00000374811.3	-	2	326	c.286C>T	c.(286-288)Cgc>Tgc	p.R96C	LAS1L_ENST00000374804.5_Intron|LAS1L_ENST00000312391.8_Missense_Mutation_p.R96C|LAS1L_ENST00000374807.5_Missense_Mutation_p.R96C	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	96					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						AGCTTACAGCGTATCAGGTCA	0.527																																						ENST00000374811.3																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						c.(286-288)Cgc>Tgc		LAS1-like (S. cerevisiae)							189.0	134.0	152.0					X																	64753566		2203	4300	6503	SO:0001583	missense	81887					MLL1 complex|nucleolus	protein binding	g.chrX:64753566G>A	BC014545	CCDS14381.1, CCDS55433.1, CCDS55434.1	Xq12	2008-02-05			ENSG00000001497	ENSG00000001497			25726	protein-coding gene	gene with protein product						12477932	Standard	NM_031206		Approved	FLJ12525	uc004dwa.2	Q9Y4W2	OTTHUMG00000021720	ENST00000374811.3:c.286C>T	X.37:g.64753566G>A	ENSP00000363944:p.Arg96Cys					LAS1L_ENST00000374804.5_Intron|LAS1L_ENST00000312391.8_Missense_Mutation_p.R96C|LAS1L_ENST00000374807.5_Missense_Mutation_p.R96C	p.R96C	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN			2	326	-			96					A9X410|Q5JXQ0|Q8TEN5|Q9H9V5	Missense_Mutation	SNP	ENST00000374811.3	37	c.286C>T	CCDS14381.1	.	.	.	.	.	.	.	.	.	.	G	18.93	3.727566	0.69074	.	.	ENSG00000001497	ENST00000374807;ENST00000374811;ENST00000312391	.	.	.	5.35	4.48	0.54585	.	0.000000	0.85682	D	0.000000	T	0.70868	0.3273	L	0.60455	1.87	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	T	0.72623	-0.4237	9	0.62326	D	0.03	.	12.1979	0.54309	0.0:0.0:0.8295:0.1705	.	96;96	Q9Y4W2-2;Q9Y4W2	.;LAS1L_HUMAN	C	96	.	ENSP00000308649:R96C	R	-	1	0	LAS1L	64670291	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.193000	0.58385	1.212000	0.43366	0.600000	0.82982	CGC		0.527	LAS1L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056974.1	NM_031206		6	570	0	0	0	1	0	6	570				
EPPK1	83481	broad.mit.edu	37	8	144946416	144946416	+	Missense_Mutation	SNP	G	G	A	rs371426204		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr8:144946416G>A	ENST00000525985.1	-	2	1077	c.1006C>T	c.(1006-1008)Cgg>Tgg	p.R336W				P58107	EPIPL_HUMAN	epiplakin 1	336						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACCCACAGCCGCTGGCCTGTG	0.701																																						ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(1006-1008)Cgg>Tgg		epiplakin 1		G	TRP/ARG	0,3960		0,0,1980	26.0	31.0	29.0		1006	1.9	0.0	8		29	3,8275		0,3,4136	no	missense	EPPK1	NM_031308.1	101	0,3,6116	AA,AG,GG		0.0362,0.0,0.0245	benign	336/2420	144946416	3,12235	1980	4139	6119	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144946416G>A	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.1006C>T	8.37:g.144946416G>A	ENSP00000436337:p.Arg336Trp						p.R336W			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	1077	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		336					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.1006C>T		.	.	.	.	.	.	.	.	.	.	G	12.23	1.875370	0.33162	0.0	3.62E-4	ENSG00000227184	ENST00000525985	T	0.79454	-1.27	4.96	1.85	0.25348	.	.	.	.	.	T	0.76350	0.3975	M	0.88979	2.995	0.09310	N	1	B	0.22346	0.068	B	0.15484	0.013	T	0.70139	-0.4954	9	0.66056	D	0.02	.	2.7639	0.05315	0.0966:0.144:0.485:0.2743	.	336	E9PPU0	.	W	336	ENSP00000436337:R336W	ENSP00000436337:R336W	R	-	1	2	EPPK1	145018404	0.000000	0.05858	0.004000	0.12327	0.830000	0.47004	0.727000	0.25999	0.647000	0.30713	0.511000	0.50034	CGG		0.701	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		6	353	0	0	0	1	0	6	353				
KIAA0907	22889	broad.mit.edu	37	1	155887393	155887393	+	Missense_Mutation	SNP	T	T	G			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr1:155887393T>G	ENST00000368321.3	-	11	1360	c.1337A>C	c.(1336-1338)cAg>cCg	p.Q446P	KIAA0907_ENST00000368320.3_Missense_Mutation_p.Q446P|SNORA42_ENST00000384744.1_RNA	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		17	205	0	0	0	1	0	17	205				
SLC7A2	6542	broad.mit.edu	37	8	17412559	17412559	+	Intron	SNP	T	T	G			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr8:17412559T>G	ENST00000494857.1	+	8	1413				SLC7A2_ENST00000522656.1_Intron|SLC7A2_ENST00000470360.1_Missense_Mutation_p.V427G|SLC7A2_ENST00000004531.10_Intron|SLC7A2_ENST00000398090.3_Missense_Mutation_p.V427G	NM_001008539.3	NP_001008539.3	P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2						amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|macrophage activation (GO:0042116)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide production involved in inflammatory response (GO:0002537)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	basic amino acid transmembrane transporter activity (GO:0015174)|high-affinity arginine transmembrane transporter activity (GO:0005289)|L-lysine transmembrane transporter activity (GO:0015189)|L-ornithine transmembrane transporter activity (GO:0000064)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	CAGTCACCAGTTGCTGCCACG	0.458																																						ENST00000470360.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25						c.(1279-1281)gTt>gGt		solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	L-Lysine(DB00123)|L-Ornithine(DB00129)						165.0	152.0	156.0					8																	17412559		2203	4300	6503	SO:0001627	intron_variant	6542				cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity	g.chr8:17412559T>G	D29990	CCDS6002.2, CCDS34852.1, CCDS55203.1	8p22	2013-05-22			ENSG00000003989	ENSG00000003989		"""Solute carriers"""	11060	protein-coding gene	gene with protein product		601872		ATRC2		8954799	Standard	NM_001164771		Approved	CAT-2, HCAT2	uc011kye.2	P52569	OTTHUMG00000130819	ENST00000494857.1:c.1195+351T>G	8.37:g.17412559T>G						SLC7A2_ENST00000494857.1_Intron|SLC7A2_ENST00000522656.1_Intron|SLC7A2_ENST00000004531.10_Intron|SLC7A2_ENST00000398090.3_Missense_Mutation_p.V427G	p.V427G			P52569	CTR2_HUMAN		Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	9	1397	+			388					B7ZL54|O15291|O15292|Q14CQ6|Q6NSZ7|Q86TC6	Missense_Mutation	SNP	ENST00000494857.1	37	c.1280T>G	CCDS34852.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.378903	0.82682	.	.	ENSG00000003989	ENST00000470360;ENST00000398090	D;D	0.90955	-2.76;-2.76	5.15	5.15	0.70609	.	0.388539	0.26951	N	0.021677	D	0.87943	0.6305	.	.	.	0.58432	D	0.99999	B	0.33739	0.422	B	0.31245	0.126	D	0.88418	0.3026	9	0.87932	D	0	.	15.2847	0.73819	0.0:0.0:0.0:1.0	.	427	P52569-2	.	G	427	ENSP00000419873:V427G;ENSP00000381164:V427G	ENSP00000381164:V427G	V	+	2	0	SLC7A2	17456851	1.000000	0.71417	0.997000	0.53966	0.973000	0.67179	7.997000	0.88414	2.085000	0.62840	0.377000	0.23210	GTT		0.458	SLC7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253367.3	NM_003046		208	530	0	0	0	1	0	208	530				
KCNB2	9312	broad.mit.edu	37	8	73848238	73848238	+	Silent	SNP	G	G	A	rs535772866		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr8:73848238G>A	ENST00000523207.1	+	3	1236	c.648G>A	c.(646-648)ccG>ccA	p.P216P		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	216					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.P216P(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	ATACGCTGCCGGAGCTGCAGG	0.473													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19615	0.0		0.0	False		,,,				2504	0.0					ENST00000523207.1																			1	Substitution - coding silent(1)	p.P216P(1)	lung(1)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85						c.(646-648)ccG>ccA		potassium voltage-gated channel, Shab-related subfamily, member 2							197.0	184.0	188.0					8																	73848238		2203	4300	6503	SO:0001819	synonymous_variant	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73848238G>A	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.648G>A	8.37:g.73848238G>A							p.P216P	NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		3	1236	+	Breast(64;0.137)		216					Q7Z7D0|Q9BXD3	Silent	SNP	ENST00000523207.1	37	c.648G>A	CCDS6209.1																																																																																				0.473	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		5	816	0	0	0	1	0	5	816				
OR1F2P	26184	broad.mit.edu	37	16	3266138	3266138	+	RNA	SNP	C	C	T			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr16:3266138C>T	ENST00000576468.1	+	0	418																											TCCCCCACATCTTCTGCGATG	0.532																																						ENST00000576468.1																			0																																																			0							g.chr16:3266138C>T																													16.37:g.3266138C>T														0	418	+									RNA	SNP	ENST00000576468.1	37																																																																																						0.532	AJ003147.9-001	KNOWN	basic	antisense	antisense	OTTHUMT00000437543.1			59	144	0	0	0	1	0	59	144				
TSTA3	7264	broad.mit.edu	37	8	144696605	144696605	+	Silent	SNP	G	G	A			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr8:144696605G>A	ENST00000425753.2	-	6	586	c.483C>T	c.(481-483)taC>taT	p.Y161Y	TSTA3_ENST00000529064.1_Silent_p.Y161Y	NM_003313.3	NP_003304.1	Q13630	FCL_HUMAN	tissue specific transplantation antigen P35B	161					'de novo' GDP-L-fucose biosynthetic process (GO:0042351)|cytolysis (GO:0019835)|GDP-mannose metabolic process (GO:0019673)|leukocyte cell-cell adhesion (GO:0007159)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	coenzyme binding (GO:0050662)|electron carrier activity (GO:0009055)|GDP-4-dehydro-D-rhamnose reductase activity (GO:0042356)|GDP-L-fucose synthase activity (GO:0050577)|isomerase activity (GO:0016853)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			AGGTGCAGCCGTACTGCTGGA	0.657																																						ENST00000425753.2																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1)	9						c.(481-483)taC>taT		tissue specific transplantation antigen P35B	NADH(DB00157)						123.0	113.0	117.0					8																	144696605		2201	4300	6501	SO:0001819	synonymous_variant	7264				'de novo' GDP-L-fucose biosynthetic process|leukocyte cell-cell adhesion		coenzyme binding|electron carrier activity|GDP-4-dehydro-D-rhamnose reductase activity|GDP-L-fucose synthase activity|isomerase activity	g.chr8:144696605G>A	U58766	CCDS6408.1	8q24.3	2012-02-22			ENSG00000104522	ENSG00000104522	1.1.1.271	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	12390	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 4E, member 1"", ""GDP-L-fucose synthase"""	137020				7803801, 1348494, 19027726	Standard	NM_003313		Approved	FX, P35B, SDR4E1	uc003yzb.2	Q13630	OTTHUMG00000165159	ENST00000425753.2:c.483C>T	8.37:g.144696605G>A						TSTA3_ENST00000529064.1_Silent_p.Y161Y	p.Y161Y	NM_003313.3	NP_003304.1	Q13630	FCL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		6	586	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		161					B2R8Y7|D3DWK5|Q567Q9|Q9UDG7	Silent	SNP	ENST00000425753.2	37	c.483C>T	CCDS6408.1																																																																																				0.657	TSTA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382263.1	NM_003313		5	291	0	0	0	1	0	5	291				
EWSR1	2130	broad.mit.edu	37	22	29695624	29695624	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr22:29695624C>T	ENST00000397938.2	+	16	2033	c.1714C>T	c.(1714-1716)Cgg>Tgg	p.R572W	EWSR1_ENST00000332035.6_Missense_Mutation_p.R516W|EWSR1_ENST00000414183.2_Missense_Mutation_p.R577W|EWSR1_ENST00000331029.7_Missense_Mutation_p.R534W|EWSR1_ENST00000332050.6_Missense_Mutation_p.R499W|EWSR1_ENST00000406548.1_Missense_Mutation_p.R571W	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	572	Arg/Gly/Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.R572W(1)	EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TGGTGGCATGCGGGGAGGAAG	0.632			T	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""	"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""																																	ENST00000397938.2				Dom	yes		22	22q12	2130	T	Ewing sarcoma breakpoint region 1 (EWS)			"""L, M"""	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""		"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""	EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	1	Substitution - Missense(1)	p.R572W(1)	endometrium(1)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1714-1716)Cgg>Tgg		EWS RNA-binding protein 1							96.0	78.0	84.0					22																	29695624		2203	4300	6503	SO:0001583	missense	2130				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding	g.chr22:29695624C>T		CCDS13851.1, CCDS13852.1, CCDS13852.2, CCDS54512.1, CCDS54513.1, CCDS54514.1	22q12.2	2013-05-24	2013-05-24		ENSG00000182944	ENSG00000182944		"""RNA binding motif (RRM) containing"""	3508	protein-coding gene	gene with protein product		133450	"""Ewing sarcoma breakpoint region 1"""			1522903	Standard	NM_005243		Approved	EWS	uc003aev.3	Q01844	OTTHUMG00000151107	ENST00000397938.2:c.1714C>T	22.37:g.29695624C>T	ENSP00000381031:p.Arg572Trp					EWSR1_ENST00000332035.6_Missense_Mutation_p.R516W|EWSR1_ENST00000414183.2_Missense_Mutation_p.R577W|EWSR1_ENST00000332050.6_Missense_Mutation_p.R499W|EWSR1_ENST00000331029.7_Missense_Mutation_p.R534W|EWSR1_ENST00000406548.1_Missense_Mutation_p.R571W	p.R572W	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN			16	2033	+			572			Arg/Gly/Pro-rich.		B0QYK1|Q5THL0|Q92635|Q96FE8|Q96MN4|Q96MX4|Q9BWA2	Missense_Mutation	SNP	ENST00000397938.2	37	c.1714C>T	CCDS13851.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.88|15.88	2.964150|2.964150	0.53507|0.53507	.|.	.|.	ENSG00000182944|ENSG00000182944	ENST00000360091|ENST00000332050;ENST00000397938;ENST00000406548;ENST00000331029;ENST00000414183;ENST00000332035	.|D;D;D;D;D;D	.|0.97404	.|-4.28;-3.83;-3.93;-4.37;-3.96;-3.84	5.18|5.18	-0.132|-0.132	0.13489|0.13489	.|.	.|0.000000	.|0.85682	.|U	.|0.000000	D|D	0.94032|0.94032	0.8088|0.8088	L|L	0.53249|0.53249	1.67|1.67	0.51233|0.51233	D|D	0.999913|0.999913	.|B;B;B;B;B	.|0.15473	.|0.004;0.013;0.013;0.013;0.013	.|B;B;B;B;B	.|0.06405	.|0.002;0.002;0.002;0.001;0.001	D|D	0.88555|0.88555	0.3119|0.3119	5|10	.|0.66056	.|D	.|0.02	.|.	9.693|9.693	0.40141|0.40141	0.4598:0.4707:0.0:0.0695|0.4598:0.4707:0.0:0.0695	.|.	.|516;571;516;577;572	.|Q96MN4;Q96FE8;B0QYK1;Q96MX4;Q01844	.|.;.;.;.;EWS_HUMAN	V|W	223|499;572;571;534;577;516	.|ENSP00000330896:R499W;ENSP00000381031:R572W;ENSP00000385726:R571W;ENSP00000330516:R534W;ENSP00000400142:R577W;ENSP00000331699:R516W	.|ENSP00000330516:R534W	A|R	+|+	2|1	0|2	EWSR1|EWSR1	28025624|28025624	0.996000|0.996000	0.38824|0.38824	0.999000|0.999000	0.59377|0.59377	0.980000|0.980000	0.70556|0.70556	0.457000|0.457000	0.21875|0.21875	0.179000|0.179000	0.19938|0.19938	0.305000|0.305000	0.20034|0.20034	GCG|CGG		0.632	EWSR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321345.1	NM_005243		4	191	0	0	0	1	0	4	191				
RP11-252A24.2	0	broad.mit.edu	37	16	74372644	74372644	+	RNA	SNP	A	A	G			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr16:74372644A>G	ENST00000429810.2	-	0	1552																											TACCCTTGTCAGGGGGAACAA	0.443																																						ENST00000429810.2																			0																																																			0							g.chr16:74372644A>G																													16.37:g.74372644A>G														0	1552	-									RNA	SNP	ENST00000429810.2	37																																																																																						0.443	RP11-252A24.2-003	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000434683.1			5	242	0	0	0	1	0	5	242				
SULT4A1	25830	broad.mit.edu	37	22	44237769	44237769	+	Silent	SNP	G	G	A			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr22:44237769G>A	ENST00000330884.4	-	2	333	c.213C>T	c.(211-213)ggC>ggT	p.G71G	SULT4A1_ENST00000249130.5_Silent_p.G71G|SULT4A1_ENST00000540422.1_Intron	NM_014351.3	NP_055166.1	Q9BR01	ST4A1_HUMAN	sulfotransferase family 4A, member 1	71					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	sulfotransferase activity (GO:0008146)			kidney(1)|large_intestine(3)|lung(4)|ovary(1)	9		Ovarian(80;0.024)|all_neural(38;0.0416)		Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419)		CGGGGTCAGCGCCCTGGCTCA	0.667																																						ENST00000330884.4																			0				kidney(1)|large_intestine(3)|lung(4)|ovary(1)	9						c.(211-213)ggC>ggT		sulfotransferase family 4A, member 1							55.0	53.0	54.0					22																	44237769		2203	4300	6503	SO:0001819	synonymous_variant	25830				3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	sulfotransferase activity	g.chr22:44237769G>A	AF188698	CCDS14051.1	22q13.2	2012-11-05			ENSG00000130540	ENSG00000130540		"""Sulfotransferases, cytosolic"""	14903	protein-coding gene	gene with protein product		608359				10698717	Standard	NM_014351		Approved	SULTX3, hBR-STL-1	uc003bee.1	Q9BR01	OTTHUMG00000141314	ENST00000330884.4:c.213C>T	22.37:g.44237769G>A						SULT4A1_ENST00000540422.1_Intron|SULT4A1_ENST00000249130.5_Silent_p.G71G	p.G71G	NM_014351.3	NP_055166.1	Q9BR01	ST4A1_HUMAN		Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419)	2	333	-		Ovarian(80;0.024)|all_neural(38;0.0416)	71					B2R7N3|O43728	Silent	SNP	ENST00000330884.4	37	c.213C>T	CCDS14051.1																																																																																				0.667	SULT4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280660.2	NM_014351		46	279	0	0	0	1	0	46	279				
ROBO1	6091	broad.mit.edu	37	3	78683085	78683085	+	Splice_Site	SNP	C	C	T			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr3:78683085C>T	ENST00000464233.1	-	24	3594	c.3481G>A	c.(3481-3483)Ggg>Agg	p.G1161R	ROBO1_ENST00000467549.1_Splice_Site_p.G1061R|ROBO1_ENST00000436010.2_Splice_Site_p.G1122R|ROBO1_ENST00000495273.1_Splice_Site_p.G1116R	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1161					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TCTTACTTACCAGATGTACTA	0.428																																						ENST00000436010.2																			0				breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44						c.e22+1		roundabout, axon guidance receptor, homolog 1 (Drosophila)							202.0	189.0	193.0					3																	78683085		1919	4131	6050	SO:0001630	splice_region_variant	6091				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	g.chr3:78683085C>T	AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.3481+1G>A	3.37:g.78683085C>T						ROBO1_ENST00000495273.1_Splice_Site_p.G1116_splice|ROBO1_ENST00000467549.1_Splice_Site_p.G1061_splice|ROBO1_ENST00000464233.1_Splice_Site_p.G1161_splice	p.G1122_splice			Q9Y6N7	ROBO1_HUMAN		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)	22	4361	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	1161					B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Splice_Site	SNP	ENST00000464233.1	37	c.3364_splice	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.319845	0.81469	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	D;D;D;D	0.85339	-1.97;-1.97;-1.97;-1.97	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.91918	0.7441	M	0.65498	2.005	0.80722	D	1	D;P;D;D;D	0.89917	1.0;0.942;1.0;0.997;0.992	D;P;D;P;P	0.91635	0.999;0.749;0.999;0.852;0.904	D	0.90475	0.4456	9	.	.	.	.	20.1001	0.97870	0.0:1.0:0.0:0.0	.	1125;1161;1116;1061;1122	Q9Y6N7-3;Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	.;ROBO1_HUMAN;.;.;.	R	1122;1116;1161;1116;1061;1165	ENSP00000406043:G1122R;ENSP00000420321:G1161R;ENSP00000420637:G1116R;ENSP00000417992:G1061R	.	G	-	1	0	ROBO1	78765775	1.000000	0.71417	0.999000	0.59377	0.415000	0.31203	7.273000	0.78527	2.760000	0.94817	0.655000	0.94253	GGG		0.428	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941	Missense_Mutation	4	286	0	0	0	1	0	4	286				
DRP2	1821	broad.mit.edu	37	X	100506020	100506020	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chrX:100506020A>G	ENST00000395209.3	+	16	2340	c.1813A>G	c.(1813-1815)Aag>Gag	p.K605E	DRP2_ENST00000402866.1_Missense_Mutation_p.K605E|DRP2_ENST00000538510.1_Missense_Mutation_p.K605E|DRP2_ENST00000541709.1_Missense_Mutation_p.K527E	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	605					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						TGAGCAAGTGAAGCATCAGAC	0.502																																						ENST00000395209.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						c.(1813-1815)Aag>Gag		dystrophin related protein 2							169.0	136.0	147.0					X																	100506020		2203	4300	6503	SO:0001583	missense	1821				central nervous system development	cytoplasm|cytoskeleton	zinc ion binding	g.chrX:100506020A>G	U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385			3032	protein-coding gene	gene with protein product		300052				8640231	Standard	NM_001939		Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.1813A>G	X.37:g.100506020A>G	ENSP00000378635:p.Lys605Glu					DRP2_ENST00000538510.1_Missense_Mutation_p.K605E|DRP2_ENST00000541709.1_Missense_Mutation_p.K527E|DRP2_ENST00000402866.1_Missense_Mutation_p.K605E	p.K605E	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN			16	2340	+			605					A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Missense_Mutation	SNP	ENST00000395209.3	37	c.1813A>G	CCDS14480.2	.	.	.	.	.	.	.	.	.	.	A	33	5.278266	0.95459	.	.	ENSG00000102385	ENST00000402866;ENST00000395209;ENST00000541709;ENST00000538510	D;D;D;D	0.87256	-2.23;-2.23;-2.23;-2.23	6.06	6.06	0.98353	Zinc finger, ZZ-type (3);	0.000000	0.85682	D	0.000000	D	0.93973	0.8070	M	0.86268	2.805	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.94735	0.7913	10	0.87932	D	0	-23.2752	15.4998	0.75687	1.0:0.0:0.0:0.0	.	605	Q13474	DRP2_HUMAN	E	605;605;527;605	ENSP00000385038:K605E;ENSP00000378635:K605E;ENSP00000444752:K527E;ENSP00000441051:K605E	ENSP00000378635:K605E	K	+	1	0	DRP2	100392676	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	9.339000	0.96797	2.044000	0.60594	0.486000	0.48141	AAG		0.502	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057522.3	NM_001939		202	661	0	0	0	1	0	202	661				
SNX32	254122	broad.mit.edu	37	11	65618619	65618619	+	Missense_Mutation	SNP	C	C	T	rs147615662	byFrequency	TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr11:65618619C>T	ENST00000308342.6	+	7	1122	c.697C>T	c.(697-699)Cgc>Tgc	p.R233C		NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN	sorting nexin 32	233					intracellular protein transport (GO:0006886)	endosome (GO:0005768)	phosphatidylinositol binding (GO:0035091)	p.R233C(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				READ - Rectum adenocarcinoma(159;0.171)		CCGCGTCATGCGCGCCCACAA	0.632											OREG0021087	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000308342.6																			1	Substitution - Missense(1)	p.R233C(1)	lung(1)	endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(697-699)Cgc>Tgc		sorting nexin 32		C	CYS/ARG	5,4397	9.9+/-24.2	0,5,2196	104.0	104.0	104.0		697	-1.4	0.1	11	dbSNP_134	104	0,8594		0,0,4297	no	missense	SNX32	NM_152760.2	180	0,5,6493	TT,TC,CC		0.0,0.1136,0.0385	possibly-damaging	233/404	65618619	5,12991	2201	4297	6498	SO:0001583	missense	254122				cell communication|protein transport		phosphatidylinositol binding	g.chr11:65618619C>T	AK055496	CCDS8113.2	11q13.1	2008-03-11	2008-03-11	2008-03-11	ENSG00000172803	ENSG00000172803		"""Sorting nexins"""	26423	protein-coding gene	gene with protein product			"""sorting nexin 6B"""	SNX6B		16782399	Standard	XM_005273871		Approved	FLJ30934	uc001ofr.3	Q86XE0	OTTHUMG00000128491	ENST00000308342.6:c.697C>T	11.37:g.65618619C>T	ENSP00000310620:p.Arg233Cys		OREG0021087	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1085		p.R233C	NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN		READ - Rectum adenocarcinoma(159;0.171)	7	1122	+			233					Q8IW53|Q96NG4	Missense_Mutation	SNP	ENST00000308342.6	37	c.697C>T	CCDS8113.2	.	.	.	.	.	.	.	.	.	.	C	17.49	3.402618	0.62288	0.001136	0.0	ENSG00000172803	ENST00000308342	T	0.31247	1.5	5.35	-1.38	0.09027	Vps5 C-terminal (1);	0.864072	0.10130	N	0.712211	T	0.28995	0.0720	M	0.78801	2.425	0.33479	D	0.587158	B	0.06786	0.001	B	0.06405	0.002	T	0.31166	-0.9953	10	0.33940	T	0.23	-5.455	4.2597	0.10735	0.2475:0.4607:0.0:0.2918	.	233	Q86XE0	SNX32_HUMAN	C	233	ENSP00000310620:R233C	ENSP00000310620:R233C	R	+	1	0	SNX32	65375195	0.999000	0.42202	0.070000	0.20053	0.878000	0.50629	0.835000	0.27531	-0.096000	0.12329	0.655000	0.94253	CGC		0.632	SNX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250295.3	NM_152760		7	913	0	0	0	1	0	7	913				
DMBT1	1755	broad.mit.edu	37	10	124377777	124377777	+	Silent	SNP	T	T	C	rs547970500		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr10:124377777T>C	ENST00000338354.3	+	38	4855	c.4749T>C	c.(4747-4749)tcT>tcC	p.S1583S	DMBT1_ENST00000368956.2_Silent_p.S955S|DMBT1_ENST00000344338.3_Silent_p.S1573S|DMBT1_ENST00000368909.3_Silent_p.S1583S|DMBT1_ENST00000359586.6_Silent_p.S434S|DMBT1_ENST00000330163.4_Silent_p.S955S|DMBT1_ENST00000368955.3_Silent_p.S1573S			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1583	SRCR 12. {ECO:0000255|PROSITE- ProRule:PRU00196}.			S -> P (in Ref. 2; CAB56155). {ECO:0000305}.	defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GACACGAGTCTTACCTGTGGA	0.592																																					Ovarian(182;93 2026 18125 22222 38972)	ENST00000368909.3																			0				breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.(4747-4749)tcT>tcC		deleted in malignant brain tumors 1							107.0	104.0	105.0					10																	124377777		1947	4153	6100	SO:0001819	synonymous_variant	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124377777T>C		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.4749T>C	10.37:g.124377777T>C						DMBT1_ENST00000368956.2_Silent_p.S955S|DMBT1_ENST00000359586.6_Silent_p.S434S|DMBT1_ENST00000338354.3_Silent_p.S1583S|DMBT1_ENST00000368955.3_Silent_p.S1573S|DMBT1_ENST00000344338.3_Silent_p.S1573S|DMBT1_ENST00000330163.4_Silent_p.S955S	p.S1583S	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN			38	4855	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	1583	S -> P (in Ref. 2; CAB56155).		SRCR 12.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Silent	SNP	ENST00000338354.3	37	c.4749T>C																																																																																					0.592	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		6	724	0	0	0	1	0	6	724				
POM121	9883	broad.mit.edu	37	7	72413896	72413896	+	Missense_Mutation	SNP	A	A	G	rs201049716		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr7:72413896A>G	ENST00000434423.2	+	11	3364	c.3364A>G	c.(3364-3366)Acc>Gcc	p.T1122A	POM121_ENST00000446813.1_Missense_Mutation_p.T857A|POM121_ENST00000257622.4_Missense_Mutation_p.T857A|POM121_ENST00000358357.3_Missense_Mutation_p.T857A|POM121_ENST00000395270.1_Missense_Mutation_p.T857A			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1122	Pore side. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)		p.T857A(8)		NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				AGGCTCCAGCACCACCACCGG	0.637																																						ENST00000395270.1																			8	Substitution - Missense(8)	p.T857A(8)	lung(4)|kidney(4)	NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(2569-2571)Acc>Gcc		POM121 transmembrane nucleoporin							32.0	30.0	30.0					7																	72413896		2201	4299	6500	SO:0001583	missense	9883				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr7:72413896A>G	AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"""-"""	19702	protein-coding gene	gene with protein product		615753	"""POM121 membrane glycoprotein (rat)"", ""POM121 membrane glycoprotein"""			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.3364A>G	7.37:g.72413896A>G	ENSP00000405562:p.Thr1122Ala					POM121_ENST00000434423.2_Missense_Mutation_p.T1122A|POM121_ENST00000446813.1_Missense_Mutation_p.T857A|POM121_ENST00000257622.4_Missense_Mutation_p.T857A|POM121_ENST00000358357.3_Missense_Mutation_p.T857A	p.T857A	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN			14	3610	+		Lung NSC(55;0.163)	1122			Pore side (Potential).|Thr-rich.		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000434423.2	37	c.2569A>G		56	0.02564102564102564	11	0.022357723577235773	14	0.03867403314917127	19	0.033216783216783216	12	0.0158311345646438	G	2.480	-0.319876	0.05386	.	.	ENSG00000196313	ENST00000446813;ENST00000257622;ENST00000395270;ENST00000358357;ENST00000434423	T;T;T;T;T	0.05649	3.46;3.41;3.46;3.41;3.71	2.86	-2.18	0.07037	.	0.720175	0.11383	N	0.569582	T	0.00724	0.0024	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.42275	-0.9461	10	0.36615	T	0.2	.	4.8571	0.13564	0.1842:0.0:0.3666:0.4491	.	857;1122	A8MXF9;Q96HA1	.;P121A_HUMAN	A	857;857;857;857;1122	ENSP00000393020:T857A;ENSP00000257622:T857A;ENSP00000378687:T857A;ENSP00000351124:T857A;ENSP00000405562:T1122A	ENSP00000257622:T857A	T	+	1	0	POM121	72051832	0.360000	0.24964	0.406000	0.26421	0.004000	0.04260	0.000000	0.12993	-0.499000	0.06623	-2.511000	0.00188	ACC		0.637	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1			7	331	0	0	0	1	0	7	331				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522815	95522815	+	RNA	SNP	A	A	G	rs372261324		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr2:95522815A>G	ENST00000432432.2	-	0	212					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene																		ATCTTCTGCAATTCGGAGTCC	0.652																																						ENST00000432432.2																			0																																																			0							g.chr2:95522815A>G			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.95522815A>G								NR_040113.1						0	212	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.652	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			7	415	0	0	0	1	0	7	415				
BBC3	27113	broad.mit.edu	37	19	47725042	47725042	+	3'UTR	SNP	C	C	T			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr19:47725042C>T	ENST00000439096.2	-	0	879				BBC3_ENST00000449228.1_Silent_p.P234P|BBC3_ENST00000300880.7_Silent_p.P74P|BBC3_ENST00000341983.4_3'UTR	NM_014417.4	NP_055232.1	Q9BXH1	BBC3_HUMAN	BCL2 binding component 3						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|determination of adult lifespan (GO:0008340)|execution phase of apoptosis (GO:0097194)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of growth (GO:0045926)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|release of cytochrome c from mitochondria (GO:0001836)|release of sequestered calcium ion into cytosol (GO:0051209)|response to endoplasmic reticulum stress (GO:0034976)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)				endometrium(1)|lung(2)|skin(1)	4		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;0.000179)|OV - Ovarian serous cystadenocarcinoma(262;0.00029)|Epithelial(262;0.0103)|GBM - Glioblastoma multiforme(486;0.0234)		TGACGTCCACCGGGCGGGTGC	0.657																																						ENST00000449228.1																			0				endometrium(1)|lung(2)|skin(1)	4						c.(700-702)ccG>ccA		BCL2 binding component 3							22.0	24.0	23.0					19																	47725042		2203	4299	6502	SO:0001624	3_prime_UTR_variant	27113				activation of caspase activity|activation of pro-apoptotic gene products|cellular response to hypoxia|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of growth|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria|positive regulation of thymocyte apoptosis|protein insertion into mitochondrial membrane involved in induction of apoptosis|reduction of endoplasmic reticulum calcium ion concentration|release of cytochrome c from mitochondria|release of sequestered calcium ion into cytosol	cytosol|mitochondrial outer membrane	protein binding	g.chr19:47725042C>T	AF332558	CCDS12697.1, CCDS46128.1, CCDS46129.1, CCDS46130.1	19q13.3-q13.4	2014-03-07							17868	protein-coding gene	gene with protein product		605854				11463392, 11572983	Standard	NM_001127240		Approved	JFY1, PUMA	uc002pgf.4	Q96PG8		ENST00000439096.2:c.*17G>A	19.37:g.47725042C>T						BBC3_ENST00000341983.4_3'UTR|BBC3_ENST00000300880.7_Silent_p.P74P|BBC3_ENST00000439096.2_3'UTR	p.P234P	NM_001127240.2	NP_001120712.1	Q9BXH1	BBC3_HUMAN		all cancers(93;0.000179)|OV - Ovarian serous cystadenocarcinoma(262;0.00029)|Epithelial(262;0.0103)|GBM - Glioblastoma multiforme(486;0.0234)	4	865	-		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)	0					B9EGI3|O00171|Q96PG9	Silent	SNP	ENST00000439096.2	37	c.702G>A	CCDS12697.1																																																																																				0.657	BBC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466874.1	NM_014417		7	191	0	0	0	1	0	7	191				
LOC645752	645752	broad.mit.edu	37	15	78208916	78208916	+	lincRNA	SNP	C	C	G	rs56290535	byFrequency	TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr15:78208916C>G	ENST00000565869.1	+	0	53				RN7SL214P_ENST00000487317.2_RNA|RP11-114H24.2_ENST00000567226.1_RNA																							TCCAGATGTTCTCCTCCATCT	0.627													C|||	476	0.0950479	0.0998	0.1023	5008	,	,		17114	0.0675		0.1054	False		,,,				2504	0.1012					ENST00000565869.1																			0																																																			0							g.chr15:78208916C>G																													15.37:g.78208916C>G														0	53	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.627	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			5	415	0	0	0	1	0	5	415				
AKR7L	246181	broad.mit.edu	37	1	19595852	19595852	+	RNA	SNP	G	G	A	rs570127845		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr1:19595852G>A	ENST00000429712.1	-	0	737				AKR7L_ENST00000420396.2_RNA			Q8NHP1	ARK74_HUMAN	aldo-keto reductase family 7-like							extracellular vesicular exosome (GO:0070062)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						TGTACTTGCCGGTCAGCAGGC	0.627													.|||	1	0.000199681	0.0	0.0	5008	,	,		15981	0.001		0.0	False		,,,				2504	0.0					ENST00000420396.2																			0				breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6								aldo-keto reductase family 7-like							88.0	89.0	89.0					1																	19595852		692	1591	2283			246181							g.chr1:19595852G>A			1p36.1-p35	2008-12-09			ENSG00000211454	ENSG00000211454			24056	protein-coding gene	gene with protein product		608478				12879023	Standard	NR_040288		Approved	AFAR3	uc021ohn.1	Q8NHP1	OTTHUMG00000002520		1.37:g.19595852G>A						AKR7L_ENST00000429712.1_RNA								0	507	-								Q5U614	RNA	SNP	ENST00000429712.1	37																																																																																						0.627	AKR7L-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000007163.3	NM_201252		4	274	0	0	0	1	0	4	274				
CDKN2A	1029	broad.mit.edu	37	9	21971111	21971111	+	Missense_Mutation	SNP	G	G	A	rs121913385		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr9:21971111G>A	ENST00000304494.5	-	2	517	c.247C>T	c.(247-249)Cac>Tac	p.H83Y	CDKN2A_ENST00000579122.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000498628.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000479692.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000361570.3_Missense_Mutation_p.A138V|CDKN2A_ENST00000578845.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000446177.1_Missense_Mutation_p.H83Y|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000494262.1_Missense_Mutation_p.H32Y|CDKN2A_ENST00000530628.2_Missense_Mutation_p.A97V|CDKN2A_ENST00000498124.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000497750.1_Missense_Mutation_p.H32Y|CDKN2A_ENST00000579755.1_Missense_Mutation_p.A97V	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	83			H -> N (in a lung tumor).|H -> Q (in dbSNP:rs34968276).|H -> Y (in a pancreas and a head and neck tumor).		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(44)|p.H83Y(30)|p.A138V(2)|p.H83fs*2(2)|p.H83N(1)|p.V82fs*62(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.V82_E88del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCAGCGTCGTGCACGGGTCGG	0.741	H83Y(CALU3_LUNG)|H83Y(HS944T_SKIN)|H83Y(JHH2_LIVER)|H83Y(OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|H83Y(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000579755.1	H83Y(CALU3_LUNG)|H83Y(HS944T_SKIN)|H83Y(JHH2_LIVER)|H83Y(OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|H83Y(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	17																	1403	Whole gene deletion(1316)|Unknown(44)|Substitution - Missense(33)|Deletion - Frameshift(6)|Deletion - In frame(3)|Complex - deletion inframe(1)	p.0?(1315)|p.?(44)|p.H83Y(30)|p.A138V(2)|p.H83fs*2(2)|p.H83N(1)|p.V82fs*62(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.V82_E88del(1)	haematopoietic_and_lymphoid_tissue(284)|skin(175)|central_nervous_system(171)|lung(154)|urinary_tract(93)|bone(74)|oesophagus(59)|soft_tissue(58)|upper_aerodigestive_tract(56)|pleura(51)|ovary(36)|pancreas(34)|breast(33)|kidney(32)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(9)|liver(7)|meninges(7)|large_intestine(6)|salivary_gland(5)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199	GRCh37	CM053801|CM056557	CDKN2A	M	rs121913385	c.(289-291)gCa>gTa		cyclin-dependent kinase inhibitor 2A							12.0	15.0	14.0					9																	21971111		2176	4259	6435	SO:0001583	missense	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21971111G>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.247C>T	9.37:g.21971111G>A	ENSP00000307101:p.His83Tyr	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000497750.1_Missense_Mutation_p.H32Y|CDKN2A_ENST00000479692.2_Missense_Mutation_p.H32Y|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Missense_Mutation_p.A97V|CDKN2A_ENST00000498628.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000579122.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000498124.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000446177.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000361570.3_Missense_Mutation_p.A138V|CDKN2A_ENST00000494262.1_Missense_Mutation_p.H32Y|CDKN2A_ENST00000304494.5_Missense_Mutation_p.H83Y|CDKN2A_ENST00000578845.2_Missense_Mutation_p.H32Y	p.A97V			P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	582	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	0		L -> R (in CMM2; loss of CDK4 binding).			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	ENST00000304494.5	37	c.290C>T	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.7|26.7	4.762523|4.762523	0.89932|0.89932	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	T;T|T;T	0.80393|0.71222	-1.37;-1.31|-0.55;-0.55	5.93|5.93	5.93|5.93	0.95920|0.95920	.|Ankyrin repeat-containing domain (4);	0.000000|.	0.37261|.	N|.	0.002164|.	T|T	0.77579|0.77579	0.4151|0.4151	L|L	0.27053|0.27053	0.805|0.805	0.46521|0.46521	D|D	0.999085|0.999085	P|D	0.47191|0.76494	0.891|0.999	B|D	0.44044|0.75484	0.439|0.986	T|T	0.79024|0.79024	-0.1972|-0.1972	10|9	0.62326|0.66056	D|D	0.03|0.02	-15.192|-15.192	19.1026|19.1026	0.93279|0.93279	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	138|83	Q8N726|P42771	CD2A2_HUMAN|CD2A1_HUMAN	V|Y	138;97|83	ENSP00000355153:A138V;ENSP00000432664:A97V|ENSP00000307101:H83Y;ENSP00000394932:H83Y	ENSP00000355153:A138V|ENSP00000307101:H83Y	A|H	-|-	2|1	0|0	CDKN2A|CDKN2A	21961111|21961111	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.915000|0.915000	0.54546|0.54546	8.665000|8.665000	0.91144|0.91144	2.803000|2.803000	0.96430|0.96430	0.650000|0.650000	0.86243|0.86243	GCA|CAC		0.741	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		38	84	0	0	0	1	0	38	84				
LOC645752	645752	broad.mit.edu	37	15	78211648	78211648	+	lincRNA	SNP	A	A	G	rs577974396	byFrequency	TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr15:78211648A>G	ENST00000565869.1	+	0	111				RN7SL214P_ENST00000487317.2_RNA|RP11-114H24.2_ENST00000567226.1_RNA																							CGCCAGGGATAGGGGCTCAGC	0.522																																						ENST00000565869.1																			0																																																			0							g.chr15:78211648A>G																													15.37:g.78211648A>G						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.522	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			6	394	0	0	0	1	0	6	394				
IL1RAPL2	26280	broad.mit.edu	37	X	105011310	105011310	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chrX:105011310G>A	ENST00000372582.1	+	11	2473	c.1717G>A	c.(1717-1719)Gca>Aca	p.A573T	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.A573T	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	573					central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TCTGGACTCCGCAGAACAAGG	0.433																																						ENST00000372582.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(1717-1719)Gca>Aca		interleukin 1 receptor accessory protein-like 2							84.0	81.0	82.0					X																	105011310		2203	4300	6503	SO:0001583	missense	26280				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity	g.chrX:105011310G>A	AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5997	protein-coding gene	gene with protein product		300277				10757639	Standard	NM_017416		Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.1717G>A	X.37:g.105011310G>A	ENSP00000361663:p.Ala573Thr					IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.A573T|IL1RAPL2_ENST00000538500.1_Missense_Mutation_p.A178T	p.A573T	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN			11	2473	+			573					Q2M3U3|Q9NZN0	Missense_Mutation	SNP	ENST00000372582.1	37	c.1717G>A	CCDS14517.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.109021	0.37242	.	.	ENSG00000189108	ENST00000372582;ENST00000344799;ENST00000538500	T;T;T	0.04551	3.91;3.91;3.6	5.78	4.91	0.64330	.	0.083120	0.52532	N	0.000078	T	0.04407	0.0121	L	0.44542	1.39	0.38969	D	0.958716	P	0.43352	0.804	B	0.28553	0.091	T	0.48843	-0.8999	10	0.40728	T	0.16	.	12.8899	0.58066	0.0796:0.0:0.9204:0.0	.	573	Q9NP60	IRPL2_HUMAN	T	573;573;178	ENSP00000361663:A573T;ENSP00000344976:A573T;ENSP00000445576:A178T	ENSP00000344976:A573T	A	+	1	0	IL1RAPL2	104897966	1.000000	0.71417	1.000000	0.80357	0.575000	0.36095	6.010000	0.70753	1.189000	0.43028	0.600000	0.82982	GCA		0.433	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057785.1	NM_017416		6	741	0	0	0	1	0	6	741				
NLRC4	58484	broad.mit.edu	37	2	32474685	32474685	+	Missense_Mutation	SNP	G	G	A	rs549398450		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr2:32474685G>A	ENST00000404025.2	-	5	2736	c.2248C>T	c.(2248-2250)Cgg>Tgg	p.R750W	NLRC4_ENST00000402280.1_Missense_Mutation_p.R750W|NLRC4_ENST00000360906.5_Missense_Mutation_p.R750W|NLRC4_ENST00000342905.6_Intron			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	750					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					CCCGGCAGCCGTTGATTCTGT	0.393																																						ENST00000404025.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16						c.(2248-2250)Cgg>Tgg		NLR family, CARD domain containing 4							197.0	200.0	199.0					2																	32474685		2203	4300	6503	SO:0001583	missense	58484				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	g.chr2:32474685G>A	AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"""Nucleotide-binding domain and leucine rich repeat containing"""	16412	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4"", ""NOD-like receptor C4"""	606831	"""caspase recruitment domain family, member 12"""	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.2248C>T	2.37:g.32474685G>A	ENSP00000385090:p.Arg750Trp					NLRC4_ENST00000360906.5_Missense_Mutation_p.R750W|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000402280.1_Missense_Mutation_p.R750W	p.R750W			Q9NPP4	NLRC4_HUMAN			5	2736	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		750					A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Missense_Mutation	SNP	ENST00000404025.2	37	c.2248C>T	CCDS33174.1	.	.	.	.	.	.	.	.	.	.	G	12.28	1.890014	0.33348	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000404025	T;T;T	0.12774	2.65;2.65;2.65	3.16	3.16	0.36331	.	0.736937	0.11138	N	0.595589	T	0.13030	0.0316	L	0.44542	1.39	0.22489	N	0.999055	D	0.64830	0.994	B	0.41299	0.353	T	0.14952	-1.0454	9	0.66056	D	0.02	-2.4537	10.1027	0.42515	0.0:0.0:0.7988:0.2011	.	750	Q9NPP4	NLRC4_HUMAN	W	750	ENSP00000354159:R750W;ENSP00000385428:R750W;ENSP00000385090:R750W	ENSP00000354159:R750W	R	-	1	2	NLRC4	32328189	0.001000	0.12720	0.024000	0.17045	0.018000	0.09664	0.309000	0.19332	2.087000	0.62958	0.537000	0.68136	CGG		0.393	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209		8	1287	0	0	0	1	0	8	1287				
ZNF285	26974	broad.mit.edu	37	19	44892133	44892133	+	Missense_Mutation	SNP	C	C	T	rs140033872		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr19:44892133C>T	ENST00000330997.4	-	4	338	c.274G>A	c.(274-276)Gtg>Atg	p.V92M	ZNF285_ENST00000591679.1_Missense_Mutation_p.V99M|ZNF285_ENST00000544719.2_Missense_Mutation_p.V92M|CTC-512J12.6_ENST00000588212.1_Intron	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	92					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(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						TGAAGGTTCACGATATAATCC	0.418																																						ENST00000330997.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(274-276)Gtg>Atg		zinc finger protein 285							89.0	89.0	89.0					19																	44892133		2203	4300	6503	SO:0001583	missense	26974							g.chr19:44892133C>T	AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"""Zinc fingers, C2H2-type"", ""-"""	13079	protein-coding gene	gene with protein product			"""zinc finger protein 285A"""	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.274G>A	19.37:g.44892133C>T	ENSP00000333595:p.Val92Met					CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Missense_Mutation_p.V92M|ZNF285_ENST00000591679.1_Missense_Mutation_p.V99M	p.V92M	NM_152354.3	NP_689567.3					4	338	-								Q17RJ3|Q6B0A8|Q6ISR5	Missense_Mutation	SNP	ENST00000330997.4	37	c.274G>A	CCDS12638.1	.	.	.	.	.	.	.	.	.	.	T	4.739	0.137438	0.09032	.	.	ENSG00000062370	ENST00000544719;ENST00000330997	T	0.07021	3.23	3.33	0.726	0.18248	.	.	.	.	.	T	0.02727	0.0082	N	0.02011	-0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.46871	-0.9160	9	0.23891	T	0.37	.	4.9771	0.14146	0.0:0.1211:0.4682:0.4107	.	116;92	B7ZLR9;Q96NJ3	.;ZN285_HUMAN	M	115;92	ENSP00000333595:V92M	ENSP00000333595:V92M	V	-	1	0	ZNF285	49583973	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-0.764000	0.04735	-0.369000	0.08028	-0.566000	0.04163	GTG		0.418	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443600.1	NM_152354		10	731	0	0	0	1	0	10	731				
DHRS9	10170	broad.mit.edu	37	2	169940070	169940070	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr2:169940070C>T	ENST00000327239.4	+	6	2049	c.545C>T	c.(544-546)gCa>gTa	p.A182V	DHRS9_ENST00000432060.2_Missense_Mutation_p.A242V|DHRS9_ENST00000428522.1_Missense_Mutation_p.A182V|DHRS9_ENST00000602501.1_Missense_Mutation_p.A182V|DHRS9_ENST00000421653.1_Missense_Mutation_p.A35V|DHRS9_ENST00000436483.2_Missense_Mutation_p.A182V|DHRS9_ENST00000357546.2_Missense_Mutation_p.A182V|DHRS9_ENST00000412271.1_Missense_Mutation_p.A182V	NM_005771.4	NP_005762.2	Q9BPW9	DHRS9_HUMAN	dehydrogenase/reductase (SDR family) member 9	182					9-cis-retinoic acid biosynthetic process (GO:0042904)|androgen metabolic process (GO:0008209)|epithelial cell differentiation (GO:0030855)|progesterone metabolic process (GO:0042448)|retinol metabolic process (GO:0042572)	integral component of endoplasmic reticulum membrane (GO:0030176)	alcohol dehydrogenase (NAD) activity (GO:0004022)|racemase and epimerase activity (GO:0016854)|retinol dehydrogenase activity (GO:0004745)|testosterone dehydrogenase (NAD+) activity (GO:0047035)			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						TCCAAATATGCAGTGGAAGGT	0.403																																						ENST00000327239.4																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						c.(544-546)gCa>gTa		dehydrogenase/reductase (SDR family) member 9							64.0	60.0	62.0					2																	169940070		2203	4299	6502	SO:0001583	missense	10170				9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity	g.chr2:169940070C>T	AF067174	CCDS2231.1, CCDS74600.1	2q31.1	2011-09-14			ENSG00000073737	ENSG00000073737		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	16888	protein-coding gene	gene with protein product	"""NADP-dependent retinol dehydrogenase/reductase"", ""3-alpha hydroxysteroid dehydrogenase"", ""retinol dehydrogenase homolog"", ""short chain dehydrogenase/reductase family 9C, member 4"""	612131				11304534, 11294878, 19027726	Standard	NM_001142270		Approved	RDHL, 3alpha-HSD, RETSDR8, RDH15, SDR9C4	uc010zde.2	Q9BPW9	OTTHUMG00000132180	ENST00000327239.4:c.545C>T	2.37:g.169940070C>T	ENSP00000316670:p.Ala182Val					DHRS9_ENST00000428522.1_Missense_Mutation_p.A182V|DHRS9_ENST00000436483.2_Missense_Mutation_p.A182V|DHRS9_ENST00000432060.2_Missense_Mutation_p.A242V|DHRS9_ENST00000357546.2_Missense_Mutation_p.A182V|DHRS9_ENST00000412271.1_Missense_Mutation_p.A182V|DHRS9_ENST00000421653.1_Missense_Mutation_p.A35V|DHRS9_ENST00000602501.1_Missense_Mutation_p.A182V	p.A182V	NM_005771.4	NP_005762.2	Q9BPW9	DHRS9_HUMAN			6	2049	+			182					B7Z416|D3DPC1|Q5RKX1|Q9NRA9|Q9NRB0	Missense_Mutation	SNP	ENST00000327239.4	37	c.545C>T	CCDS2231.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.898824	0.91962	.	.	ENSG00000073737	ENST00000327239;ENST00000357546;ENST00000432060;ENST00000428522;ENST00000421653;ENST00000436483;ENST00000412271	D;D;D;D;D;D;D	0.95554	-3.05;-3.05;-3.05;-3.05;-3.74;-3.05;-3.05	5.93	5.05	0.67936	NAD(P)-binding domain (1);	0.097035	0.64402	D	0.000002	D	0.98595	0.9530	H	0.98068	4.14	0.45452	D	0.99842	D;D	0.67145	0.996;0.984	D;D	0.70487	0.969;0.925	D	0.99470	1.0945	10	0.87932	D	0	.	15.27	0.73693	0.0:0.583:0.417:0.0	.	242;182	B7Z416;Q9BPW9	.;DHRS9_HUMAN	V	182;182;242;182;35;182;182	ENSP00000316670:A182V;ENSP00000350154:A182V;ENSP00000389241:A242V;ENSP00000388564:A182V;ENSP00000388066:A35V;ENSP00000407167:A182V;ENSP00000407747:A182V	ENSP00000316670:A182V	A	+	2	0	DHRS9	169648316	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.657000	0.61490	1.505000	0.48720	0.655000	0.94253	GCA		0.403	DHRS9-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333612.3	NM_005771		62	245	0	0	0	1	0	62	245				
CEP104	9731	broad.mit.edu	37	1	3742426	3742426	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr1:3742426A>G	ENST00000378230.3	-	18	2584	c.2260T>C	c.(2260-2262)Tgt>Cgt	p.C754R		NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	754						centriole (GO:0005814)	glutamate binding (GO:0016595)|glycine binding (GO:0016594)|thienylcyclohexylpiperidine binding (GO:0016596)			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						CAAAAAATACACAAACTGAAA	0.468																																						ENST00000378230.3																			0				breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						c.(2260-2262)Tgt>Cgt		centrosomal protein 104kDa							97.0	87.0	90.0					1																	3742426		2203	4300	6503	SO:0001583	missense	9731					centriole	binding	g.chr1:3742426A>G	AB011134	CCDS30571.1	1p36.32	2014-02-20	2011-05-06	2011-05-06	ENSG00000116198	ENSG00000116198			24866	protein-coding gene	gene with protein product	"""glycine, glutamate, thienylcyclohexylpiperidine binding protein"""		"""KIAA0562"""	KIAA0562		7488117, 21399614	Standard	NM_014704		Approved	GlyBP, RP1-286D6.4	uc001aky.2	O60308	OTTHUMG00000003507	ENST00000378230.3:c.2260T>C	1.37:g.3742426A>G	ENSP00000367476:p.Cys754Arg						p.C754R	NM_014704.3	NP_055519.1	O60308	CE104_HUMAN			18	2584	-			754					Q5JSQ3|Q5SR24|Q5SR25|Q6PKF5|Q86W32|Q86X14	Missense_Mutation	SNP	ENST00000378230.3	37	c.2260T>C	CCDS30571.1	.	.	.	.	.	.	.	.	.	.	A	14.88	2.668522	0.47677	.	.	ENSG00000116198	ENST00000378230	T	0.71817	-0.6	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	D	0.84848	0.5563	M	0.84585	2.705	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87378	0.2355	10	0.72032	D	0.01	.	13.6283	0.62181	1.0:0.0:0.0:0.0	.	754	O60308	CE104_HUMAN	R	754	ENSP00000367476:C754R	ENSP00000367476:C754R	C	-	1	0	CEP104	3732286	1.000000	0.71417	0.155000	0.22561	0.230000	0.25150	8.875000	0.92372	1.819000	0.53055	0.533000	0.62120	TGT		0.468	CEP104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009747.3	NM_014704		4	299	0	0	0	1	0	4	299				
GTF2IRD2P1	401375	broad.mit.edu	37	7	72663998	72663998	+	RNA	SNP	T	T	G			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr7:72663998T>G	ENST00000425256.1	-	0	902									GTF2I repeat domain containing 2 pseudogene 1																		ATAGCCGGGGTCCTTGAATAC	0.488																																						ENST00000425256.1																			0																																																			0							g.chr7:72663998T>G	AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72663998T>G								NR_002164.1						0	902	-									RNA	SNP	ENST00000425256.1	37																																																																																						0.488	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345921.1	NR_002164		6	329	0	0	0	1	0	6	329				
AGAP6	414189	broad.mit.edu	37	10	51768543	51768543	+	Missense_Mutation	SNP	T	T	C	rs368970869		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr10:51768543T>C	ENST00000374056.4	+	7	987	c.589T>C	c.(589-591)Tcg>Ccg	p.S197P	AGAP6_ENST00000412531.3_Missense_Mutation_p.S220P			Q5VW22	AGAP6_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	197					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.S220P(3)		NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						CTCCATTCCATCGACTCCCAG	0.532																																						ENST00000374056.4																			3	Substitution - Missense(3)	p.S220P(3)	endometrium(2)|NS(1)	NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						c.(589-591)Tcg>Ccg		ArfGAP with GTPase domain, ankyrin repeat and PH domain 6																																				SO:0001583	missense	414189				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:51768543T>C		CCDS44397.1	10q11.23	2013-01-10	2008-09-22	2008-09-22	ENSG00000204149	ENSG00000204149		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23466	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 3"""	CTGLF3			Standard	NM_001077665		Approved	bA324H6.1	uc001jix.4	Q5VW22	OTTHUMG00000018220	ENST00000374056.4:c.589T>C	10.37:g.51768543T>C	ENSP00000363168:p.Ser197Pro					AGAP6_ENST00000412531.3_Missense_Mutation_p.S220P	p.S197P			C9IYN2	C9IYN2_HUMAN			7	987	+			220						Missense_Mutation	SNP	ENST00000374056.4	37	c.589T>C		.	.	.	.	.	.	.	.	.	.	.	7.332	0.619129	0.14129	.	.	ENSG00000204149	ENST00000374056;ENST00000412531	T	0.56776	0.44	0.0465	0.0465	0.14256	.	0.149774	0.46145	D	0.000318	T	0.42314	0.1197	M	0.65498	2.005	0.37828	D	0.92861	B	0.14012	0.009	B	0.13407	0.009	T	0.20140	-1.0284	10	0.31617	T	0.26	.	4.565	0.12180	0.0:6.0E-4:0.0:0.9994	.	220	C9IYN2	.	P	220;197	ENSP00000400972:S197P	ENSP00000363168:S220P	S	+	1	0	AGAP6	51438549	1.000000	0.71417	0.059000	0.19551	0.060000	0.15804	3.691000	0.54720	0.115000	0.18071	0.113000	0.15668	TCG		0.532	AGAP6-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001077665		5	454	0	0	0	1	0	5	454				
BCRP7	100133163	broad.mit.edu	37	22	18846121	18846121	+	3'UTR	SNP	C	C	T	rs4302302	byFrequency	TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr22:18846121C>T	ENST00000412938.1	+	0	3479																											CACGCACTGGCGCACGATGTA	0.617																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18846121C>T																												ENST00000412938.1:c.*3476C>T	22.37:g.18846121C>T														0	3479	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.617	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			6	144	0	0	0	1	0	6	144				
PRSS3P2	154754	broad.mit.edu	37	7	142481251	142481251	+	RNA	SNP	A	A	C	rs200856228		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr7:142481251A>C	ENST00000603901.1	+	0	325					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										CAATGACATCATGCTGATCAA	0.522																																						ENST00000603901.1																			0																				201.0	140.0	159.0					7																	142481251		684	1494	2178			0							g.chr7:142481251A>C			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142481251A>C								NR_001296.3						0	325	+									RNA	SNP	ENST00000603901.1	37																																																																																						0.522	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		6	124	0	0	0	1	0	6	124				
ERICH6	131831	broad.mit.edu	37	3	150384656	150384656	+	Missense_Mutation	SNP	C	C	T	rs199929972		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr3:150384656C>T	ENST00000295910.6	-	13	1698	c.1646G>A	c.(1645-1647)cGc>cAc	p.R549H	FAM194A_ENST00000491361.1_Missense_Mutation_p.R403H	NM_152394.3	NP_689607.2														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TTCTAAGATGCGGACTCCAAT	0.383													C|||	1	0.000199681	0.0	0.0	5008	,	,		19456	0.0		0.0	False		,,,				2504	0.001					ENST00000295910.6																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(1645-1647)cGc>cAc		family with sequence similarity 194, member A							121.0	117.0	118.0					3																	150384656		2203	4300	6503	SO:0001583	missense	131831							g.chr3:150384656C>T																												ENST00000295910.6:c.1646G>A	3.37:g.150384656C>T	ENSP00000295910:p.Arg549His					FAM194A_ENST00000491361.1_Missense_Mutation_p.R403H	p.R549H	NM_152394.3	NP_689607.2	Q7L0X2	F194A_HUMAN			13	1698	-			549						Missense_Mutation	SNP	ENST00000295910.6	37	c.1646G>A	CCDS3151.2	.	.	.	.	.	.	.	.	.	.	C	24.8	4.571845	0.86542	.	.	ENSG00000163645	ENST00000295910;ENST00000491361;ENST00000313811	T;T	0.16597	2.33;2.33	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000009	T	0.43853	0.1266	M	0.69823	2.125	0.42916	D	0.994271	D	0.89917	1.0	D	0.91635	0.999	T	0.38499	-0.9658	10	0.87932	D	0	-15.9343	17.9829	0.89147	0.0:1.0:0.0:0.0	.	549	Q7L0X2	F194A_HUMAN	H	549;403;507	ENSP00000295910:R549H;ENSP00000419366:R403H	ENSP00000295910:R549H	R	-	2	0	FAM194A	151867346	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	5.067000	0.64357	2.544000	0.85801	0.655000	0.94253	CGC		0.383	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257666.1			5	475	0	0	0	1	0	5	475				
WHAMMP3	339005	broad.mit.edu	37	15	23205108	23205108	+	RNA	SNP	C	C	T			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr15:23205108C>T	ENST00000400153.2	-	0	746					NR_003521.1		Q1A5X7	WHAL1_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene 3																		GTGGTTGCCACGGTAACTAAT	0.393																																						ENST00000400153.2																			0																																																			0							g.chr15:23205108C>T	BC048987		15q11.2	2014-03-20	2011-06-24	2011-06-24	ENSG00000187667	ENSG00000276141			27892	pseudogene	pseudogene			"""WAS protein homology region 2 domain containing 1-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1 (pseudogene)"""	WHDC1L1, WHAMML1		18226259	Standard	NR_003521		Approved		uc001yvg.3	Q1A5X7	OTTHUMG00000171921		15.37:g.23205108C>T								NR_003521.1						0	746	-								Q1A5X8|Q52M16|Q52M18	RNA	SNP	ENST00000400153.2	37																																																																																						0.393	WHAMMP3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415907.1	NR_003521		5	81	0	0	0	1	0	5	81				
ZNF845	91664	broad.mit.edu	37	19	53856702	53856702	+	Missense_Mutation	SNP	G	G	A	rs200114728	byFrequency	TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr19:53856702G>A	ENST00000595091.1	+	5	2993	c.2774G>A	c.(2773-2775)cGt>cAt	p.R925H	ZNF845_ENST00000458035.1_Missense_Mutation_p.R925H			Q96IR2	ZN845_HUMAN	zinc finger protein 845	925					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R925H(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AAAACCTTCCGTCACAATTCA	0.363													.|||	267	0.0533147	0.0484	0.0562	5008	,	,		21751	0.0466		0.0915	False		,,,				2504	0.0256					ENST00000458035.1																			3	Substitution - Missense(3)	p.R925H(3)	kidney(3)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(2773-2775)cGt>cAt		zinc finger protein 845							33.0	30.0	31.0					19																	53856702		692	1591	2283	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53856702G>A	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2774G>A	19.37:g.53856702G>A	ENSP00000470005:p.Arg925His					ZNF845_ENST00000595091.1_Missense_Mutation_p.R925H	p.R925H	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	2891	+			925						Missense_Mutation	SNP	ENST00000595091.1	37	c.2774G>A	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	G	5.812	0.334080	0.11013	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	T	0.36157	1.27	2.0	-4.0	0.04057	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42585	0.1209	L	0.58302	1.8	0.09310	N	1	D	0.55800	0.973	P	0.53760	0.734	T	0.43925	-0.9361	9	0.51188	T	0.08	.	10.7803	0.46374	0.0:0.6804:0.1821:0.1375	.	925	Q96IR2	ZN845_HUMAN	H	925;841	ENSP00000388311:R925H	ENSP00000412086:R841H	R	+	2	0	ZNF845	58548514	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-7.662000	0.00032	-1.603000	0.01597	-0.499000	0.04595	CGT		0.363	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		6	153	0	0	0	1	0	6	153				
TNC	3371	broad.mit.edu	37	9	117848907	117848907	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr9:117848907G>A	ENST00000350763.4	-	3	1514	c.1103C>T	c.(1102-1104)gCc>gTc	p.A368V	TNC_ENST00000341037.4_Missense_Mutation_p.A368V|TNC_ENST00000345230.3_Missense_Mutation_p.A368V|TNC_ENST00000346706.3_Missense_Mutation_p.A368V|TNC_ENST00000340094.3_Missense_Mutation_p.A368V|TNC_ENST00000423613.2_Missense_Mutation_p.A368V|TNC_ENST00000535648.1_Missense_Mutation_p.A368V|TNC_ENST00000542877.1_Missense_Mutation_p.A368V|TNC_ENST00000537320.1_Missense_Mutation_p.A368V	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	368	EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00076}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GTCCACACCGGCAAAGCCCTC	0.602																																						ENST00000350763.4																			0				NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						c.(1102-1104)gCc>gTc		tenascin C							110.0	100.0	103.0					9																	117848907		2203	4300	6503	SO:0001583	missense	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117848907G>A		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.1103C>T	9.37:g.117848907G>A	ENSP00000265131:p.Ala368Val					TNC_ENST00000423613.2_Missense_Mutation_p.A368V|TNC_ENST00000340094.3_Missense_Mutation_p.A368V|TNC_ENST00000341037.4_Missense_Mutation_p.A368V|TNC_ENST00000542877.1_Missense_Mutation_p.A368V|TNC_ENST00000537320.1_Missense_Mutation_p.A368V|TNC_ENST00000345230.3_Missense_Mutation_p.A368V|TNC_ENST00000535648.1_Missense_Mutation_p.A368V|TNC_ENST00000346706.3_Missense_Mutation_p.A368V	p.A368V	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN			3	1514	-			368			EGF-like 7.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	c.1103C>T	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	G	5.410	0.260837	0.10239	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T;T;T;T;T;T;T;T;T	0.03358	3.96;3.96;3.96;3.96;3.96;3.96;3.96;3.96;3.96	5.44	4.54	0.55810	EGF-like region, conserved site (2);	0.375062	0.35040	N	0.003489	T	0.04092	0.0114	L	0.35854	1.095	0.09310	N	1	B;B	0.24426	0.103;0.093	B;B	0.26864	0.023;0.074	T	0.34104	-0.9842	10	0.46703	T	0.11	.	9.1964	0.37231	0.0844:0.1504:0.7652:0.0	.	368;368	E9PC84;P24821	.;TENA_HUMAN	V	368	ENSP00000344400:A368V;ENSP00000438152:A368V;ENSP00000344555:A368V;ENSP00000345861:A368V;ENSP00000265131:A368V;ENSP00000339553:A368V;ENSP00000411406:A368V;ENSP00000443478:A368V;ENSP00000442242:A368V	ENSP00000344400:A368V	A	-	2	0	TNC	116888728	0.008000	0.16893	0.002000	0.10522	0.001000	0.01503	1.741000	0.38238	1.412000	0.46977	-0.302000	0.09304	GCC		0.602	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		5	455	0	0	0	1	0	5	455				
LZTR1	8216	broad.mit.edu	37	22	21344731	21344731	+	Silent	SNP	C	C	T			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr22:21344731C>T	ENST00000215739.8	+	8	1067	c.708C>T	c.(706-708)tgC>tgT	p.C236C	LZTR1_ENST00000389355.3_Silent_p.C217C|LZTR1_ENST00000479606.1_3'UTR	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	236					anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TGGCTGTGTGCCGGGACAAGA	0.582																																						ENST00000215739.8																			0				breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42						c.(706-708)tgC>tgT		leucine-zipper-like transcription regulator 1							112.0	104.0	107.0					22																	21344731		2203	4300	6503	SO:0001819	synonymous_variant	8216				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity	g.chr22:21344731C>T	D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"""BTB/POZ domain containing"""	6742	protein-coding gene	gene with protein product		600574	"""leucine-zipper-like transcriptional regulator 1"""			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.708C>T	22.37:g.21344731C>T						LZTR1_ENST00000389355.3_Silent_p.C217C|LZTR1_ENST00000479606.1_3'UTR	p.C236C	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		8	1067	+	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	236					Q14776|Q20WK0	Silent	SNP	ENST00000215739.8	37	c.708C>T	CCDS33606.1																																																																																				0.582	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320387.1	NM_006767		6	555	0	0	0	1	0	6	555				
SCD5	79966	broad.mit.edu	37	4	83601872	83601872	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr4:83601872C>T	ENST00000319540.4	-	3	876	c.557G>A	c.(556-558)cGg>cAg	p.R186Q	SCD5_ENST00000273908.4_Missense_Mutation_p.R186Q	NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5	186					fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				TCTCTGGATCCGGACCACAGG	0.512																																						ENST00000319540.4																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13						c.(556-558)cGg>cAg		stearoyl-CoA desaturase 5							85.0	80.0	81.0					4																	83601872		2203	4300	6503	SO:0001583	missense	79966				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity	g.chr4:83601872C>T	AF389338	CCDS3595.1, CCDS34024.1	4q21.3	2013-01-25	2005-06-09	2005-06-09	ENSG00000145284	ENSG00000145284		"""Fatty acid desaturases"""	21088	protein-coding gene	gene with protein product		608370	"""stearoyl-CoA desaturase 4"""	SCD4		12477932	Standard	NM_024906		Approved	ACOD4, FLJ21032, FADS4, HSCD5	uc003hna.2	Q86SK9	OTTHUMG00000130293	ENST00000319540.4:c.557G>A	4.37:g.83601872C>T	ENSP00000316329:p.Arg186Gln					SCD5_ENST00000273908.4_Missense_Mutation_p.R186Q	p.R186Q	NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN			3	876	-		Colorectal(4;0.0323)|Hepatocellular(203;0.115)	186					B2RPG0|Q4W5Q5|Q8NDS0|Q9H7D1	Missense_Mutation	SNP	ENST00000319540.4	37	c.557G>A	CCDS34024.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.603393	0.46423	.	.	ENSG00000145284	ENST00000319540;ENST00000273908	T;T	0.13538	2.58;2.58	5.34	-3.29	0.05017	Fatty acid desaturase, type 1 (1);	0.274691	0.36034	N	0.002837	T	0.05135	0.0137	L	0.31664	0.95	0.54753	D	0.99998	P;B	0.41265	0.744;0.104	B;B	0.30401	0.115;0.025	T	0.42965	-0.9420	10	0.39692	T	0.17	-11.999	1.765	0.03000	0.1963:0.3386:0.0973:0.3678	.	186;186	Q86SK9-2;Q86SK9	.;SCD5_HUMAN	Q	186	ENSP00000316329:R186Q;ENSP00000273908:R186Q	ENSP00000273908:R186Q	R	-	2	0	SCD5	83820896	0.809000	0.29036	0.950000	0.38849	0.985000	0.73830	0.050000	0.14120	-0.917000	0.03813	0.591000	0.81541	CGG		0.512	SCD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252635.1	NM_024906		73	283	0	0	0	1	0	73	283				
COL22A1	169044	broad.mit.edu	37	8	139767411	139767411	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr8:139767411G>A	ENST00000303045.6	-	21	2466	c.2020C>T	c.(2020-2022)Cca>Tca	p.P674S	COL22A1_ENST00000435777.1_Missense_Mutation_p.P674S	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	674	Collagen-like 4.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CGAGCTCCTGGAGGACCGGGG	0.567										HNSCC(7;0.00092)																												ENST00000303045.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211						c.(2020-2022)Cca>Tca		collagen, type XXII, alpha 1							72.0	79.0	77.0					8																	139767411		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139767411G>A	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.2020C>T	8.37:g.139767411G>A	ENSP00000303153:p.Pro674Ser	HNSCC(7;0.00092)				COL22A1_ENST00000435777.1_Missense_Mutation_p.P674S	p.P674S	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		21	2466	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		674			Collagen-like 4.|Gly-rich.|Pro-rich.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.2020C>T	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.542600	0.45280	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.94376	-3.41;-3.19	4.98	4.98	0.66077	.	0.308551	0.23002	U	0.053079	D	0.95411	0.8510	L	0.58669	1.825	0.50039	D	0.999843	D	0.89917	1.0	D	0.80764	0.994	D	0.94829	0.7994	10	0.51188	T	0.08	.	13.636	0.62223	0.0:0.0:1.0:0.0	.	674	Q8NFW1	COMA1_HUMAN	S	674;674;387	ENSP00000303153:P674S;ENSP00000387655:P674S	ENSP00000303153:P674S	P	-	1	0	COL22A1	139836593	0.996000	0.38824	0.977000	0.42913	0.042000	0.13812	2.770000	0.47662	2.597000	0.87782	0.591000	0.81541	CCA		0.567	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		21	647	0	0	0	1	0	21	647				
KRTAP4-7	100132476	broad.mit.edu	37	17	39240908	39240908	+	Silent	SNP	T	T	C			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr17:39240908T>C	ENST00000391417.4	+	1	450	c.450T>C	c.(448-450)tgT>tgC	p.C150C		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	205	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].		Missing. {ECO:0000269|PubMed:15955084}.		aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.C150C(1)		NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						CCTTGTGCTGTGCCTCCTCTT	0.607																																						ENST00000391417.4																			1	Substitution - coding silent(1)	p.C150C(1)	lung(1)	NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						c.(448-450)tgT>tgC		keratin associated protein 4-7							90.0	87.0	88.0					17																	39240908		692	1591	2283	SO:0001819	synonymous_variant	100132476							g.chr17:39240908T>C	AJ406939	CCDS45673.1	17q21.2	2013-06-25			ENSG00000240871	ENSG00000240871		"""Keratin associated proteins"""	18898	protein-coding gene	gene with protein product						11279113	Standard	NM_033061		Approved	KAP4.7	uc010wfn.2	Q9BYR0	OTTHUMG00000133582	ENST00000391417.4:c.450T>C	17.37:g.39240908T>C							p.C150C	NM_033061.3	NP_149050.3					1	450	+								A0AVM6|A8MQ08|A8MTL4	Silent	SNP	ENST00000391417.4	37	c.450T>C	CCDS45673.1																																																																																				0.607	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257686.1			4	48	0	0	0	1	0	4	48				
CCT6P1	643253	broad.mit.edu	37	7	65226641	65226641	+	RNA	SNP	G	G	T			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr7:65226641G>T	ENST00000442266.1	+	0	1167				SNORA15_ENST00000384058.1_RNA					chaperonin containing TCP1, subunit 6 (zeta) pseudogene 1																		AGGTTCTTGCGCAGAATTCTG	0.383																																						ENST00000442266.1																			0																																																			0							g.chr7:65226641G>T	BC052238, BC073761		7q11.21	2010-06-29	2008-09-22	2008-09-22	ENSG00000228409	ENSG00000228409			33094	pseudogene	pseudogene			"""chaperonin containing TCP1, subunit 6A (zeta 1) pseudogene 1"""	CCT6AP1			Standard	NR_003110		Approved		uc003tug.3		OTTHUMG00000156733		7.37:g.65226641G>T														0	1167	+									RNA	SNP	ENST00000442266.1	37																																																																																						0.383	CCT6P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345507.1	NR_003110		6	94	1	0	5.18039e-06	1	5.36181e-06	6	94				
HLA-DQB2	3120	broad.mit.edu	37	6	32726846	32726846	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr6:32726846C>T	ENST00000437316.2	-	3	490	c.427G>A	c.(427-429)Gtc>Atc	p.V143I	HLA-DQB2_ENST00000411527.1_Missense_Mutation_p.V143I|HLA-DQB2_ENST00000435145.2_Missense_Mutation_p.V143I			P05538	DQB2_HUMAN	major histocompatibility complex, class II, DQ beta 2	147	Beta-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|B cell affinity maturation (GO:0002344)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of alpha-beta T cell activation (GO:0046635)|positive regulation of antigen processing and presentation (GO:0002579)|positive regulation of T-helper 1 type immune response (GO:0002827)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome (GO:0005769)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)|toxic substance binding (GO:0015643)			endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						ACCGAGCAGACCAGCAGGTTG	0.552																																						ENST00000435145.2																			0				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						c.(427-429)Gtc>Atc		major histocompatibility complex, class II, DQ beta 2																																				SO:0001583	missense	3120				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex		g.chr6:32726846C>T	M83890	CCDS56419.1	6p21.3	2013-01-11			ENSG00000232629	ENSG00000232629		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4945	protein-coding gene	gene with protein product		615161		HLA-DXB		2564844	Standard	NM_001198858		Approved		uc003oby.4	P05538	OTTHUMG00000031125	ENST00000437316.2:c.427G>A	6.37:g.32726846C>T	ENSP00000396330:p.Val143Ile					HLA-DQB2_ENST00000411527.1_Missense_Mutation_p.V143I|HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.V143I	p.V143I			Q5SR06	Q5SR06_HUMAN			3	488	-			143					A6NIA5|Q29826|Q29870|Q29871|Q29872|Q29873|Q5SR06	Missense_Mutation	SNP	ENST00000437316.2	37	c.427G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.02|14.02	2.411903|2.411903	0.42817|0.42817	.|.	.|.	ENSG00000232629|ENSG00000232629	ENST00000437316;ENST00000435145;ENST00000411527|ENST00000427449	T;T;T|.	0.02974|.	4.09;4.09;4.09|.	3.41|3.41	3.41|3.41	0.39046|0.39046	.|.	0.393945|.	0.23183|.	U|.	0.050988|.	T|.	0.46658|.	0.1404|.	M|M	0.85542|0.85542	2.76|2.76	0.24382|0.24382	N|N	0.994782|0.994782	B;B|.	0.22604|.	0.037;0.072|.	B;B|.	0.36766|.	0.116;0.232|.	T|.	0.44862|.	-0.9300|.	10|.	0.87932|.	D|.	0|.	.|.	6.7311|6.7311	0.23383|0.23383	0.0:0.8677:0.0:0.1323|0.0:0.8677:0.0:0.1323	rs34293284|rs34293284	143;143|.	A2ADX3;Q5SR06|.	.;.|.	I|X	143|141	ENSP00000396330:V143I;ENSP00000410512:V143I;ENSP00000390431:V143I|.	ENSP00000390431:V143I|.	V|W	-|-	1|3	0|0	HLA-DQB2|HLA-DQB2	32834824|32834824	0.928000|0.928000	0.31464|0.31464	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	0.298000|0.298000	0.19120|0.19120	1.906000|1.906000	0.55180|0.55180	0.478000|0.478000	0.44815|0.44815	GTC|TGG		0.552	HLA-DQB2-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000076216.2			6	480	0	0	0	1	0	6	480				
TUBB8P7	197331	broad.mit.edu	37	16	90162338	90162338	+	RNA	SNP	T	T	C			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr16:90162338T>C	ENST00000564451.1	+	0	1691				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7																		GACATCCCACTCCGGGGGCTA	0.483																																						ENST00000567960.1																			0																																																			0							g.chr16:90162338T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162338T>C						TUBB8P7_ENST00000564451.1_RNA								0	1074	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.483	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		6	821	0	0	0	1	0	6	821				
LOC101927648	101927648	broad.mit.edu	37	1	143403554	143403554	+	lincRNA	SNP	T	T	G			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr1:143403554T>G	ENST00000423249.1	-	0	59																											GGAACAGGATTTCTTTGGCCA	0.468																																						ENST00000423249.1																			0																																																			0							g.chr1:143403554T>G																													1.37:g.143403554T>G														0	59	-									RNA	SNP	ENST00000423249.1	37																																																																																						0.468	RP11-435B5.4-002	KNOWN	not_best_in_genome_evidence|basic	lincRNA	lincRNA	OTTHUMT00000037552.1			6	49	0	0	0	1	0	6	49				
CTNNB1	1499	broad.mit.edu	37	3	41275669	41275669	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr3:41275669G>A	ENST00000349496.5	+	10	1844	c.1564G>A	c.(1564-1566)Gca>Aca	p.A522T	CTNNB1_ENST00000396185.3_Missense_Mutation_p.A522T|CTNNB1_ENST00000453024.1_Missense_Mutation_p.A515T|CTNNB1_ENST00000405570.1_Missense_Mutation_p.A522T|CTNNB1_ENST00000396183.3_Missense_Mutation_p.A522T	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	522					adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		CCTTTGTCCCGCAAATCATGC	0.468		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)	ENST00000349496.5		15		Dom	yes		3	3p22-p21.3	1499	"""H, Mis, T"""	"""catenin (cadherin-associated protein), beta 1"""			"""E, M, O"""	PLAG1		"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""	CTNNB1/PLAG1(60)	0				NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893						c.(1564-1566)Gca>Aca		catenin (cadherin-associated protein), beta 1, 88kDa	Lithium(DB01356)						156.0	135.0	142.0					3																	41275669		2203	4300	6503	SO:0001583	missense	1499	Pilomatrixoma, Familial Clustering of	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr3:41275669G>A	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.1564G>A	3.37:g.41275669G>A	ENSP00000344456:p.Ala522Thr					CTNNB1_ENST00000453024.1_Missense_Mutation_p.A515T|CTNNB1_ENST00000396183.3_Missense_Mutation_p.A522T|CTNNB1_ENST00000405570.1_Missense_Mutation_p.A522T|CTNNB1_ENST00000396185.3_Missense_Mutation_p.A522T	p.A522T	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	10	1844	+			522					A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	c.1564G>A	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.250043	0.80024	.	.	ENSG00000168036	ENST00000405570;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185	T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13	5.96	5.96	0.96718	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.58652	0.2137	M	0.70595	2.14	0.80722	D	1	B;P	0.42993	0.262;0.797	B;B	0.29077	0.017;0.098	T	0.61178	-0.7115	10	0.25106	T	0.35	-13.4527	20.422	0.99049	0.0:0.0:1.0:0.0	.	450;522	B4DSW9;P35222	.;CTNB1_HUMAN	T	522;522;522;515;522	ENSP00000385604:A522T;ENSP00000379486:A522T;ENSP00000344456:A522T;ENSP00000411226:A515T;ENSP00000379488:A522T	ENSP00000344456:A522T	A	+	1	0	CTNNB1	41250673	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	9.869000	0.99810	2.832000	0.97577	0.655000	0.94253	GCA		0.468	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		5	303	0	0	0	1	0	5	303				
TRMT12	55039	broad.mit.edu	37	8	125463327	125463327	+	Silent	SNP	G	G	A			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr8:125463327G>A	ENST00000328599.3	+	1	280	c.159G>A	c.(157-159)ccG>ccA	p.P53P	TRMT12_ENST00000521443.1_3'UTR	NM_017956.3	NP_060426.2	Q53H54	TYW2_HUMAN	tRNA methyltransferase 12 homolog (S. cerevisiae)	53					tRNA processing (GO:0008033)		transferase activity (GO:0016740)			breast(2)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			AAAAGATGCCGGATGGCTCGG	0.557																																						ENST00000328599.3																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(157-159)ccG>ccA		tRNA methyltransferase 12 homolog (S. cerevisiae)							59.0	60.0	60.0					8																	125463327		2203	4300	6503	SO:0001819	synonymous_variant	55039				tRNA processing		methyltransferase activity	g.chr8:125463327G>A	AF313041	CCDS6349.1	8q24.13	2011-05-09	2006-11-16		ENSG00000183665	ENSG00000183665			26091	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 2"""	611244	"""tRNA methyltranferase 12 homolog (S. cerevisiae)"""			16005430, 17150819	Standard	NM_017956		Approved	FLJ20772, Trm12, TYW2	uc003yra.4	Q53H54	OTTHUMG00000165022	ENST00000328599.3:c.159G>A	8.37:g.125463327G>A						TRMT12_ENST00000521443.1_3'UTR	p.P53P	NM_017956.3	NP_060426.2	Q53H54	TYW2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		1	280	+	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		53					Q6PKB9|Q96F21|Q9NWK6	Silent	SNP	ENST00000328599.3	37	c.159G>A	CCDS6349.1																																																																																				0.557	TRMT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381465.1	NM_017956		5	375	0	0	0	1	0	5	375				
COQ7	10229	broad.mit.edu	37	16	19089416	19089416	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr16:19089416C>T	ENST00000321998.5	+	6	656	c.590C>T	c.(589-591)gCc>gTc	p.A197V	COQ7_ENST00000544894.2_Missense_Mutation_p.A159V|COQ7_ENST00000569127.1_Missense_Mutation_p.A174V|COQ7_ENST00000568985.1_Missense_Mutation_p.A197V	NM_016138.4	NP_057222.2	Q99807	COQ7_HUMAN	coenzyme Q7 homolog, ubiquinone (yeast)	197	2 X approximate tandem repeats.				age-dependent response to oxidative stress (GO:0001306)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|in utero embryonic development (GO:0001701)|mitochondrial ATP synthesis coupled electron transport (GO:0042775)|mitochondrion morphogenesis (GO:0070584)|neural tube formation (GO:0001841)|neurogenesis (GO:0022008)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|large_intestine(1)|lung(3)|prostate(1)|skin(3)|urinary_tract(1)	10						CCAGCCTATGCCGTCCTGAAG	0.418																																						ENST00000321998.5																			0				breast(1)|large_intestine(1)|lung(3)|prostate(1)|skin(3)|urinary_tract(1)	10						c.(589-591)gCc>gTc		coenzyme Q7 homolog, ubiquinone (yeast)							98.0	91.0	93.0					16																	19089416		2197	4300	6497	SO:0001583	missense	10229				ubiquinone biosynthetic process	mitochondrial inner membrane|nucleus	oxidoreductase activity|transition metal ion binding	g.chr16:19089416C>T	U81276	CCDS10574.1, CCDS53993.1	16p12.3	2008-05-14	2001-11-28		ENSG00000167186	ENSG00000167186			2244	protein-coding gene	gene with protein product		601683	"""coenzyme Q, 7 (rat, yeast) homolog"""			9020081, 10373325	Standard	NM_016138		Approved	CLK-1, CAT5	uc002dfr.3	Q99807	OTTHUMG00000131455	ENST00000321998.5:c.590C>T	16.37:g.19089416C>T	ENSP00000322316:p.Ala197Val					COQ7_ENST00000568985.1_Missense_Mutation_p.A197V|COQ7_ENST00000569127.1_Missense_Mutation_p.A174V|COQ7_ENST00000544894.2_Missense_Mutation_p.A159V	p.A197V	NM_016138.4	NP_057222.2	Q99807	COQ7_HUMAN			6	656	+			197			2 X approximate tandem repeats.		B2RDA9|Q9BTT7|Q9H0T5|Q9UEW5|Q9UNR5	Missense_Mutation	SNP	ENST00000321998.5	37	c.590C>T	CCDS10574.1	.	.	.	.	.	.	.	.	.	.	C	10.56	1.384116	0.25031	.	.	ENSG00000167186	ENST00000321998;ENST00000544894	T;T	0.43294	0.95;0.95	5.43	1.13	0.20643	.	1.184410	0.05552	N	0.567563	T	0.32224	0.0822	L	0.38175	1.15	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.10450	0.003;0.005	T	0.22800	-1.0206	10	0.29301	T	0.29	-8.3605	5.8507	0.18691	0.0:0.5888:0.1268:0.2844	.	174;197	Q49A71;Q99807	.;COQ7_HUMAN	V	197;159	ENSP00000322316:A197V;ENSP00000442923:A159V	ENSP00000322316:A197V	A	+	2	0	COQ7	18996917	0.000000	0.05858	0.000000	0.03702	0.184000	0.23303	0.101000	0.15251	0.241000	0.21283	-0.150000	0.13652	GCC		0.418	COQ7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254275.3	NM_016138		4	210	0	0	0	1	0	4	210				
RBM28	55131	broad.mit.edu	37	7	127964701	127964701	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr7:127964701G>A	ENST00000223073.2	-	12	1364	c.1250C>T	c.(1249-1251)gCg>gTg	p.A417V	RBM28_ENST00000415472.2_Missense_Mutation_p.A276V	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	417	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						ACGGGTCACCGCCAAGTCAAC	0.552																																						ENST00000223073.1																			0				breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						c.(1249-1251)gCg>gTg		RNA binding motif protein 28							161.0	166.0	164.0					7																	127964701		2203	4300	6503	SO:0001583	missense	55131				mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding	g.chr7:127964701G>A	AK001239	CCDS5801.1, CCDS55159.1	7q32.2	2013-02-12			ENSG00000106344	ENSG00000106344		"""RNA binding motif (RRM) containing"""	21863	protein-coding gene	gene with protein product		612074					Standard	NM_018077		Approved	FLJ10377	uc003vmp.2	Q9NW13	OTTHUMG00000157711	ENST00000223073.2:c.1250C>T	7.37:g.127964701G>A	ENSP00000223073:p.Ala417Val					RBM28_ENST00000415472.2_Missense_Mutation_p.A276V	p.A417V	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN			12	1364	-			417			RRM 3.		A4D100|B4DU52|E9PDD9|Q53H65|Q96CV3	Missense_Mutation	SNP	ENST00000223073.2	37	c.1250C>T	CCDS5801.1	.	.	.	.	.	.	.	.	.	.	G	35	5.490769	0.96339	.	.	ENSG00000106344	ENST00000223073;ENST00000415472	T;T	0.80566	-1.39;-1.39	6.17	6.17	0.99709	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.104763	0.64402	D	0.000004	D	0.90120	0.6913	M	0.80183	2.485	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.986;0.999	D	0.90475	0.4456	10	0.87932	D	0	-12.3433	16.3795	0.83443	0.0:0.0:1.0:0.0	.	276;417;276	E9PDD9;Q9NW13;B4DU52	.;RBM28_HUMAN;.	V	417;276	ENSP00000223073:A417V;ENSP00000390517:A276V	ENSP00000223073:A417V	A	-	2	0	RBM28	127751937	1.000000	0.71417	0.990000	0.47175	0.965000	0.64279	7.764000	0.85297	2.941000	0.99782	0.655000	0.94253	GCG		0.552	RBM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349442.2	NM_018077		7	1143	0	0	0	1	0	7	1143				
FBXO18	84893	broad.mit.edu	37	10	5956233	5956233	+	Splice_Site	SNP	G	G	A			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr10:5956233G>A	ENST00000362091.4	+	8	1511		c.e8+1		FBXO18_ENST00000379999.5_Splice_Site|FBXO18_ENST00000397269.3_Splice_Site	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18						DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						GCCTTTGCCGGTAAGGGAGCC	0.488																																						ENST00000379999.5																			0				NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						c.e9+1		F-box protein, helicase, 18							96.0	96.0	96.0					10																	5956233		2203	4300	6503	SO:0001630	splice_region_variant	84893				DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr10:5956233G>A	AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"""F-boxes /  ""other"""""	13620	protein-coding gene	gene with protein product		607222	"""F-box only protein 18"""			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.1396+1G>A	10.37:g.5956233G>A						FBXO18_ENST00000362091.4_Splice_Site|FBXO18_ENST00000397269.3_Splice_Site|FBXO18_ENST00000379994.1_Splice_Site		NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN			9	1653	+								Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Splice_Site	SNP	ENST00000362091.4	37		CCDS7072.1	.	.	.	.	.	.	.	.	.	.	G	11.50	1.655814	0.29425	.	.	ENSG00000134452	ENST00000362091;ENST00000544954;ENST00000379999;ENST00000379994	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6551	0.91450	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FBXO18	5996239	1.000000	0.71417	1.000000	0.80357	0.018000	0.09664	8.218000	0.89768	2.496000	0.84212	0.561000	0.74099	.		0.488	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046596.1	NM_032807	Intron	5	321	0	0	0	1	0	5	321				
RBM15	64783	broad.mit.edu	37	1	110884183	110884183	+	Missense_Mutation	SNP	G	G	A	rs148790140		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr1:110884183G>A	ENST00000369784.3	+	1	3056	c.2156G>A	c.(2155-2157)cGt>cAt	p.R719H	RBM15_ENST00000487146.2_Missense_Mutation_p.R719H|RBM15_ENST00000602849.1_Missense_Mutation_p.R719H|RP5-1074L1.1_ENST00000449169.1_RNA	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	719	Arg-rich.				negative regulation of myeloid cell differentiation (GO:0045638)|patterning of blood vessels (GO:0001569)|placenta blood vessel development (GO:0060674)|positive regulation of transcription of Notch receptor target (GO:0007221)|spleen development (GO:0048536)|ventricular septum morphogenesis (GO:0060412)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		AAGCGAGACCGTAAAAACTCT	0.512			T	MKL1	acute megakaryocytic leukemia																																	ENST00000369784.3				Dom	yes		1	1p13	64783	T	RNA binding motif protein 15			L	MKL1		acute megakaryocytic leukemia		0				ovary(3)	3						c.(2155-2157)cGt>cAt		RNA binding motif protein 15		G	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	78.0	80.0	80.0		2156,2156	4.7	1.0	1	dbSNP_134	80	0,8600		0,0,4300	no	missense,missense	RBM15	NM_001201545.1,NM_022768.4	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	719/970,719/978	110884183	1,13005	2203	4300	6503	SO:0001583	missense	64783				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:110884183G>A	AF368063	CCDS822.1, CCDS59198.1	1p13	2013-02-12			ENSG00000162775	ENSG00000162775		"""RNA binding motif (RRM) containing"""	14959	protein-coding gene	gene with protein product	"""one twenty-two"""	606077				11431691, 11344311	Standard	NM_001201545		Approved	OTT, OTT1	uc001dzl.1	Q96T37	OTTHUMG00000011284	ENST00000369784.3:c.2156G>A	1.37:g.110884183G>A	ENSP00000358799:p.Arg719His					RBM15_ENST00000602849.1_Missense_Mutation_p.R719H|RBM15_ENST00000487146.2_Missense_Mutation_p.R719H	p.R719H	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)	1	3056	+		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)	719			Arg-rich.		A1A693|Q3ZB86|Q4V760|Q5D058|Q5T613|Q86VW9|Q96PE4|Q96SC5|Q96SC6|Q96SC9|Q96SD0|Q96T38|Q9BRA5|Q9H6R8|Q9H9Y0	Missense_Mutation	SNP	ENST00000369784.3	37	c.2156G>A	CCDS822.1	.	.	.	.	.	.	.	.	.	.	G	11.69	1.712649	0.30413	2.27E-4	0.0	ENSG00000162775	ENST00000369784	T	0.19938	2.11	4.72	4.72	0.59763	.	0.000000	0.45126	D	0.000385	T	0.07188	0.0182	N	0.24115	0.695	0.38370	D	0.944855	B;B	0.22983	0.003;0.078	B;B	0.09377	0.003;0.004	T	0.07009	-1.0795	10	0.59425	D	0.04	-8.5054	12.3211	0.54985	0.0819:0.0:0.9181:0.0	.	719;719	Q96T37-3;Q96T37	.;RBM15_HUMAN	H	719	ENSP00000358799:R719H	ENSP00000358799:R719H	R	+	2	0	RBM15	110685706	0.933000	0.31639	1.000000	0.80357	0.997000	0.91878	1.479000	0.35453	2.461000	0.83175	0.655000	0.94253	CGT		0.512	RBM15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000031114.2	NM_022768		5	383	0	0	0	1	0	5	383				
PEX6	5190	broad.mit.edu	37	6	42933521	42933521	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr6:42933521G>A	ENST00000304611.8	-	13	2438	c.2369C>T	c.(2368-2370)gCc>gTc	p.A790V	PEX6_ENST00000244546.4_Missense_Mutation_p.P708S	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	790					ATP catabolic process (GO:0006200)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix, translocation (GO:0016561)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			CCTGGCCCTGGCAAACACTGA	0.577																																						ENST00000304611.8																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15						c.(2368-2370)gCc>gTc		peroxisomal biogenesis factor 6							61.0	70.0	67.0					6																	42933521		2203	4300	6503	SO:0001583	missense	5190				protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	g.chr6:42933521G>A	U56602	CCDS4877.1	6p22-p11	2010-04-21			ENSG00000124587	ENSG00000124587		"""ATPases / AAA-type"""	8859	protein-coding gene	gene with protein product		601498				8670792	Standard	NM_000287		Approved	PXAAA1, PAF-2	uc003otf.3	Q13608	OTTHUMG00000014713	ENST00000304611.8:c.2369C>T	6.37:g.42933521G>A	ENSP00000303511:p.Ala790Val					PEX6_ENST00000244546.4_Missense_Mutation_p.P708S	p.A790V	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)		13	2438	-			790					Q5T8W1|Q8WYQ0|Q8WYQ1|Q8WYQ2|Q99476	Missense_Mutation	SNP	ENST00000304611.8	37	c.2369C>T	CCDS4877.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.33|18.33	3.600802|3.600802	0.66332|0.66332	.|.	.|.	ENSG00000124587|ENSG00000124587	ENST00000304611|ENST00000244546	D|D	0.93247|0.94650	-3.19|-3.48	5.86|5.86	5.86|5.86	0.93980|0.93980	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);|.	0.675668|.	0.16389|.	N|.	0.216557|.	D|D	0.92381|0.92381	0.7582|0.7582	L|L	0.35414|0.35414	1.06|1.06	0.21762|0.21762	N|N	0.999553|0.999553	B|.	0.29955|.	0.263|.	B|.	0.32022|.	0.139|.	D|D	0.89468|0.89468	0.3741|0.3741	10|7	0.45353|0.87932	T|D	0.12|0	-6.5206|-6.5206	19.8035|19.8035	0.96518|0.96518	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	790|.	Q13608|.	PEX6_HUMAN|.	V|S	790|708	ENSP00000303511:A790V|ENSP00000244546:P708S	ENSP00000303511:A790V|ENSP00000244546:P708S	A|P	-|-	2|1	0|0	PEX6|PEX6	43041499|43041499	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	2.864000|2.864000	0.48404|0.48404	2.771000|2.771000	0.95319|0.95319	0.563000|0.563000	0.77884|0.77884	GCC|CCA		0.577	PEX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040569.1	NM_000287		6	864	0	0	0	1	0	6	864				
POTEH	23784	broad.mit.edu	37	22	16287673	16287673	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr22:16287673C>G	ENST00000343518.6	-	1	264	c.213G>C	c.(211-213)tgG>tgC	p.W71C		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	71								p.W71C(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TCCCCCTGCACCAGGGGAAGC	0.582																																						ENST00000343518.6																			1	Substitution - Missense(1)	p.W71C(1)	NS(1)	NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						c.(211-213)tgG>tgC		POTE ankyrin domain family, member H							110.0	126.0	120.0					22																	16287673		2105	3940	6045	SO:0001583	missense	23784							g.chr22:16287673C>G	AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	133	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 7"""	608913	"""actin, beta-like 1"", ""ANKRD26-like family C, member 3"""	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.213G>C	22.37:g.16287673C>G	ENSP00000340610:p.Trp71Cys						p.W71C	NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN			1	264	-			71					A2CEK4|A6NCI1|A9Z1W0	Missense_Mutation	SNP	ENST00000343518.6	37	c.213G>C	CCDS46658.1	.	.	.	.	.	.	.	.	.	.	.	0.001	-3.595853	0.00008	.	.	ENSG00000198062	ENST00000359587;ENST00000343518;ENST00000355872	T	0.25912	1.77	.	.	.	.	.	.	.	.	T	0.03608	0.0103	N	0.00321	-1.65	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.16012	-1.0417	7	0.02654	T	1	.	.	.	.	.	71	Q6S545	POTEH_HUMAN	C	71	ENSP00000340610:W71C	ENSP00000340610:W71C	W	-	3	0	POTEH	14667673	0.006000	0.16342	0.007000	0.13788	0.007000	0.05969	-0.619000	0.05572	-1.825000	0.01207	-1.799000	0.00621	TGG		0.582	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276918.4	NM_001136213		8	1733	0	0	0	1	0	8	1733				
GDF9	2661	broad.mit.edu	37	5	132199861	132199861	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr5:132199861C>T	ENST00000378673.2	-	2	1231	c.365G>A	c.(364-366)cGg>cAg	p.R122Q	UQCRQ_ENST00000378665.1_5'Flank|UQCRQ_ENST00000378670.3_5'Flank|GDF9_ENST00000296875.2_Missense_Mutation_p.R122Q|GDF9_ENST00000464378.1_5'UTR|UQCRQ_ENST00000378667.1_5'Flank			O60383	GDF9_HUMAN	growth differentiation factor 9	122					female gamete generation (GO:0007292)|negative regulation of cell growth (GO:0030308)|oocyte growth (GO:0001555)|positive regulation of cell proliferation (GO:0008284)|regulation of progesterone secretion (GO:2000870)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)			NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTGCTTGTGCCGGGTACAGGG	0.463																																						ENST00000378673.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22						c.(364-366)cGg>cAg		growth differentiation factor 9							107.0	121.0	116.0					5																	132199861		2203	4300	6503	SO:0001583	missense	2661				female gamete generation|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	g.chr5:132199861C>T		CCDS4162.1, CCDS75299.1	5q31.1	2014-01-30			ENSG00000164404	ENSG00000164404		"""Endogenous ligands"""	4224	protein-coding gene	gene with protein product		601918				7760846	Standard	NM_005260		Approved		uc003kxz.1	O60383	OTTHUMG00000059842	ENST00000378673.2:c.365G>A	5.37:g.132199861C>T	ENSP00000367942:p.Arg122Gln					GDF9_ENST00000464378.1_5'UTR|GDF9_ENST00000296875.2_Missense_Mutation_p.R122Q	p.R122Q			O60383	GDF9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		2	1231	-		all_cancers(142;0.105)|Breast(839;0.198)	122					Q4VAW5	Missense_Mutation	SNP	ENST00000378673.2	37	c.365G>A	CCDS4162.1	.	.	.	.	.	.	.	.	.	.	C	6.477	0.456158	0.12283	.	.	ENSG00000164404	ENST00000378673;ENST00000296875	T;T	0.57436	0.4;0.4	5.61	1.73	0.24493	.	0.400271	0.24909	N	0.034632	T	0.09024	0.0223	N	0.00025	-2.675	0.19775	N	0.999957	B	0.02656	0.0	B	0.01281	0.0	T	0.41142	-0.9525	10	0.06365	T	0.9	.	6.5274	0.22309	0.2293:0.0674:0.0:0.7032	.	122	O60383	GDF9_HUMAN	Q	122	ENSP00000367942:R122Q;ENSP00000296875:R122Q	ENSP00000296875:R122Q	R	-	2	0	GDF9	132227760	0.974000	0.33945	0.894000	0.35097	0.991000	0.79684	1.412000	0.34714	0.044000	0.15775	-0.294000	0.09567	CGG		0.463	GDF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133060.2	NM_005260		8	651	0	0	0	1	0	8	651				
BMS1P20	96610	broad.mit.edu	37	22	22664743	22664743	+	RNA	SNP	G	G	A	rs371682346		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr22:22664743G>A	ENST00000426066.1	+	0	924					NR_027293.1				BMS1 pseudogene 20																		CAGACTAAAGGCAAACAAGGA	0.498																																						ENST00000426066.1																			0																																																			0							g.chr22:22664743G>A			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664743G>A								NR_027293.1						0	924	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.498	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			5	179	0	0	0	1	0	5	179				
TRIM49	57093	broad.mit.edu	37	11	89531568	89531568	+	Silent	SNP	T	T	C	rs560492199	byFrequency	TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr11:89531568T>C	ENST00000329758.1	-	8	1417	c.1089A>G	c.(1087-1089)aaA>aaG	p.K363K	TRIM49_ENST00000532501.2_Silent_p.K286K	NM_020358.2	NP_065091.1	P0CI25	TRI49_HUMAN	tripartite motif containing 49	363	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.K363K(3)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GATTCTTCTCTTTCCGATACA	0.458													c|||	2	0.000399361	0.0008	0.0	5008	,	,		20193	0.001		0.0	False		,,,				2504	0.0					ENST00000329758.1																			3	Substitution - coding silent(3)	p.K363K(3)	endometrium(2)|prostate(1)	breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27						c.(1087-1089)aaA>aaG		tripartite motif containing 49							74.0	79.0	77.0					11																	89531568		2195	4299	6494	SO:0001819	synonymous_variant	57093					intracellular	zinc ion binding	g.chr11:89531568T>C	AB037682	CCDS8287.1	11p11.12-q12	2012-05-21	2011-01-25	2004-11-17	ENSG00000168930	ENSG00000168930		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	13431	protein-coding gene	gene with protein product		606124	"""ring finger protein 18"", ""tripartite motif-containing 49"""	RNF18		11018261	Standard	NM_020358		Approved	TRIM49A	uc001pdb.3	P0CI25		ENST00000329758.1:c.1089A>G	11.37:g.89531568T>C						TRIM49_ENST00000532501.2_Silent_p.K286K	p.K363K	NM_020358.2	NP_065091.1	P0CI25	TRI49_HUMAN			8	1417	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	363			B30.2/SPRY.		A0AVR7|A0AVR9|Q6DJV1|Q9NS80	Silent	SNP	ENST00000329758.1	37	c.1089A>G	CCDS8287.1																																																																																				0.458	TRIM49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395435.1	NM_020358		5	613	0	0	0	1	0	5	613				
ZNF479	90827	broad.mit.edu	37	7	57194311	57194311	+	Silent	SNP	G	G	A	rs547142284		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr7:57194311G>A	ENST00000331162.4	-	3	424	c.154C>T	c.(154-156)Ctg>Ttg	p.L52L		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	52	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			AGGGAGACCAGGTTTCTGTAG	0.378													.|||	1	0.000199681	0.0008	0.0	5008	,	,		21106	0.0		0.0	False		,,,				2504	0.0					ENST00000331162.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84						c.(154-156)Ctg>Ttg		zinc finger protein 479							93.0	95.0	95.0					7																	57194311		2200	4299	6499	SO:0001819	synonymous_variant	90827				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:57194311G>A	AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.154C>T	7.37:g.57194311G>A							p.L52L	NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	GBM - Glioblastoma multiforme(1;9.18e-12)		3	424	-			52			KRAB.			Silent	SNP	ENST00000331162.4	37	c.154C>T	CCDS43590.1																																																																																				0.378	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202		6	696	0	0	0	1	0	6	696				
RTN4RL2	349667	broad.mit.edu	37	11	57235268	57235268	+	Missense_Mutation	SNP	G	G	A	rs537129988	byFrequency	TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr11:57235268G>A	ENST00000533205.1	+	2	227	c.218G>A	c.(217-219)cGc>cAc	p.R73H	RTN4RL2_ENST00000395120.2_Missense_Mutation_p.R73H|RTN4RL2_ENST00000335099.3_Missense_Mutation_p.R73H					reticulon 4 receptor-like 2									p.R73H(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(2)	6						AACCTCATCCGCACGCTGCGG	0.622													G|||	2	0.000399361	0.0	0.0	5008	,	,		18678	0.0		0.0	False		,,,				2504	0.002					ENST00000335099.3																			1	Substitution - Missense(1)	p.R73H(1)	large_intestine(1)	NS(1)|endometrium(1)|large_intestine(2)|lung(2)	6						c.(217-219)cGc>cAc		reticulon 4 receptor-like 2							186.0	160.0	169.0					11																	57235268		2201	4296	6497	SO:0001583	missense	349667				axon regeneration	anchored to plasma membrane	receptor activity	g.chr11:57235268G>A	BK001302	CCDS7957.1	11q12.1	2008-02-05			ENSG00000186907	ENSG00000186907			23053	protein-coding gene	gene with protein product		610462					Standard	NM_178570		Approved	NgR2, NGRH1	uc010rjt.2	Q86UN3	OTTHUMG00000167028	ENST00000533205.1:c.218G>A	11.37:g.57235268G>A	ENSP00000435606:p.Arg73His					RTN4RL2_ENST00000395120.2_Missense_Mutation_p.R73H|RTN4RL2_ENST00000533205.1_Missense_Mutation_p.R73H	p.R73H	NM_178570.1	NP_848665.1	Q86UN3	R4RL2_HUMAN			2	535	+			73						Missense_Mutation	SNP	ENST00000533205.1	37	c.218G>A		.	.	.	.	.	.	.	.	.	.	G	14.84	2.654652	0.47467	.	.	ENSG00000186907	ENST00000335099;ENST00000533205;ENST00000395120	T;D;D	0.83914	4.26;-1.78;-1.78	4.96	4.96	0.65561	.	0.186921	0.22985	N	0.053277	T	0.80486	0.4632	L	0.32530	0.975	0.30119	N	0.805883	P	0.48407	0.91	P	0.48921	0.595	T	0.79172	-0.1913	10	0.49607	T	0.09	.	13.8855	0.63706	0.0:0.153:0.847:0.0	.	73	Q86UN3	R4RL2_HUMAN	H	73	ENSP00000335397:R73H;ENSP00000435606:R73H;ENSP00000378552:R73H	ENSP00000335397:R73H	R	+	2	0	RTN4RL2	56991844	0.548000	0.26473	1.000000	0.80357	0.793000	0.44817	2.710000	0.47169	2.471000	0.83476	0.561000	0.74099	CGC		0.622	RTN4RL2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000392538.1	NM_178570		6	833	0	0	0	1	0	6	833				
RLIM	51132	broad.mit.edu	37	X	73811938	73811938	+	Silent	SNP	G	G	C	rs61754468		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chrX:73811938G>C	ENST00000332687.6	-	4	1430	c.1212C>G	c.(1210-1212)acC>acG	p.T404T	RLIM_ENST00000349225.2_Silent_p.T404T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	404					negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T404T(6)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCTTAACATGGTCTGAATTG	0.413																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)	ENST00000332687.6																			6	Substitution - coding silent(6)	p.T404T(6)	lung(3)|urinary_tract(1)|kidney(1)|endometrium(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1210-1212)acC>acG		ring finger protein, LIM domain interacting							102.0	92.0	95.0					X																	73811938		2203	4300	6503	SO:0001819	synonymous_variant	51132				random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chrX:73811938G>C	AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"""RING-type (C3HC4) zinc fingers"""	13429	protein-coding gene	gene with protein product	"""ring zinc finger protein NY-REN-43antigen"", ""LIM domain interacting ring finger protein"""	300379	"""ring finger protein 12"""	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.1212C>G	X.37:g.73811938G>C						RLIM_ENST00000349225.2_Silent_p.T404T	p.T404T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN			4	1430	-			404					B2RBQ1|D3DTE0|Q96D38|Q9Y598	Silent	SNP	ENST00000332687.6	37	c.1212C>G	CCDS14427.1																																																																																				0.413	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		13	607	0	0	0	1	0	13	607				
CHMP2A	27243	broad.mit.edu	37	19	59063736	59063736	+	Missense_Mutation	SNP	G	G	A	rs146786448		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr19:59063736G>A	ENST00000600118.1	-	2	663	c.238C>T	c.(238-240)Cgg>Tgg	p.R80W	CHMP2A_ENST00000312547.2_Missense_Mutation_p.R80W|CHMP2A_ENST00000601220.1_Missense_Mutation_p.R80W			O43633	CHM2A_HUMAN	charged multivesicular body protein 2A	80	Interaction with VPS4B.				endosomal transport (GO:0016197)|establishment of protein localization (GO:0045184)|membrane organization (GO:0061024)|positive regulation of viral release from host cell (GO:1902188)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein domain specific binding (GO:0019904)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	7		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		ATGTTGGCCCGCATCAATACA	0.537																																						ENST00000600118.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	7						c.(238-240)Cgg>Tgg		charged multivesicular body protein 2A		G	TRP/ARG,TRP/ARG	0,4406		0,0,2203	167.0	144.0	152.0		238,238	4.2	1.0	19	dbSNP_134	152	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CHMP2A	NM_014453.2,NM_198426.1	101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	80/223,80/223	59063736	1,13005	2203	4300	6503	SO:0001583	missense	27243				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein domain specific binding	g.chr19:59063736G>A	AF042384	CCDS12986.1	19q13.43	2014-09-04	2011-09-21		ENSG00000130724	ENSG00000130724		"""Charged multivesicular body proteins"""	30216	protein-coding gene	gene with protein product	"""putative breast adenocarcinoma marker (32kD)"", ""VPS2 homolog A (S. cerevisiae)"""	610893	"""chromatin modifying protein 2A"""			15173323, 11559748	Standard	XM_005258746		Approved	BC-2, CHMP2, VPS2, VPS2A	uc002qtk.3	O43633	OTTHUMG00000183547	ENST00000600118.1:c.238C>T	19.37:g.59063736G>A	ENSP00000469240:p.Arg80Trp					CHMP2A_ENST00000601220.1_Missense_Mutation_p.R80W|CHMP2A_ENST00000312547.2_Missense_Mutation_p.R80W	p.R80W			O43633	CHM2A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)	2	663	-		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	80			Interaction with VPS4B.		B2R4W6|Q3ZTT0	Missense_Mutation	SNP	ENST00000600118.1	37	c.238C>T	CCDS12986.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.163553	0.78226	0.0	1.16E-4	ENSG00000130724	ENST00000312547	T	0.73047	-0.71	5.21	4.17	0.49024	.	0.059857	0.64402	D	0.000006	D	0.84669	0.5523	M	0.86343	2.81	0.58432	D	0.999999	D	0.89917	1.0	D	0.70227	0.968	D	0.87404	0.2371	10	0.87932	D	0	.	13.3112	0.60380	0.0:0.0:0.8406:0.1594	.	80	O43633	CHM2A_HUMAN	W	80	ENSP00000310440:R80W	ENSP00000310440:R80W	R	-	1	2	CHMP2A	63755548	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.248000	0.32827	1.327000	0.45338	0.655000	0.94253	CGG		0.537	CHMP2A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467088.1	NM_014453		6	770	0	0	0	1	0	6	770				
EVI2A	2123	broad.mit.edu	37	17	29646024	29646024	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr17:29646024G>A	ENST00000462804.2	-	2	407	c.8C>T	c.(7-9)aCg>aTg	p.T3M	EVI2A_ENST00000247270.3_Missense_Mutation_p.T26M|EVI2A_ENST00000461237.1_Missense_Mutation_p.T3M|NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron|CTD-2370N5.3_ENST00000578584.1_5'Flank|NF1_ENST00000581113.2_Intron	NM_014210.3	NP_055025.2	P22794	EVI2A_HUMAN	ecotropic viral integration site 2A	3					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)	p.0?(8)|p.?(3)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;5.94e-13)|Epithelial(4;7.98e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.4e-12)|GBM - Glioblastoma multiforme(4;0.18)		TTCCATGTCCGTGGGCATGCT	0.383																																						ENST00000247270.3																			11	Whole gene deletion(8)|Unknown(3)	p.0?(8)|p.?(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(76-78)aCg>aTg		ecotropic viral integration site 2A							202.0	196.0	198.0					17																	29646024		2203	4300	6503	SO:0001583	missense	2123					integral to membrane	transmembrane receptor activity	g.chr17:29646024G>A	M55267	CCDS32608.1, CCDS42293.1	17q11.2	2008-07-18			ENSG00000126860	ENSG00000126860			3499	protein-coding gene	gene with protein product		158380		EVI2		2117566	Standard	NM_014210		Approved	EVDA	uc002hgm.3	P22794	OTTHUMG00000159306	ENST00000462804.2:c.8C>T	17.37:g.29646024G>A	ENSP00000420557:p.Thr3Met					NF1_ENST00000356175.3_Intron|NF1_ENST00000358273.4_Intron|EVI2A_ENST00000461237.1_Missense_Mutation_p.T3M|EVI2A_ENST00000462804.2_Missense_Mutation_p.T3M|NF1_ENST00000581113.2_Intron	p.T26M	NM_001003927.2	NP_001003927.1	P22794	EVI2A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;5.94e-13)|Epithelial(4;7.98e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.4e-12)|GBM - Glioblastoma multiforme(4;0.18)	3	413	-		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)	3					B2R5X2|B4DHX8	Missense_Mutation	SNP	ENST00000462804.2	37	c.77C>T	CCDS42293.1	.	.	.	.	.	.	.	.	.	.	G	3.420	-0.118278	0.06838	.	.	ENSG00000126860	ENST00000394755;ENST00000461237;ENST00000247270	.	.	.	5.6	-4.93	0.03066	.	0.975316	0.08382	N	0.954343	T	0.15392	0.0371	N	0.14661	0.345	0.09310	N	0.999999	B;B	0.12013	0.003;0.005	B;B	0.11329	0.002;0.006	T	0.28299	-1.0048	9	0.17832	T	0.49	.	4.1869	0.10402	0.3857:0.1046:0.414:0.0957	.	3;26	P22794;P22794-2	EVI2A_HUMAN;.	M	3;3;26	.	ENSP00000247270:T26M	T	-	2	0	EVI2A	26670150	0.000000	0.05858	0.001000	0.08648	0.507000	0.33981	-0.955000	0.03869	-0.659000	0.05359	-0.238000	0.12139	ACG		0.383	EVI2A-001	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354491.3	NM_014210		17	1100	0	0	0	1	0	17	1100				
HNRNPR	10236	broad.mit.edu	37	1	23648137	23648137	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr1:23648137C>T	ENST00000374612.1	-	7	818	c.695G>A	c.(694-696)cGc>cAc	p.R232H	HNRNPR_ENST00000478691.1_Missense_Mutation_p.R131H|HNRNPR_ENST00000606561.1_Missense_Mutation_p.R93H|HNRNPR_ENST00000374616.3_Missense_Mutation_p.R232H|HNRNPR_ENST00000427764.2_Missense_Mutation_p.R194H|HNRNPR_ENST00000426846.2_Missense_Mutation_p.R72H|HNRNPR_ENST00000302271.6_Missense_Mutation_p.R232H	NM_001102398.1|NM_005826.3	NP_001095868.1|NP_005817.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	232	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		TTTACCAGGGCGAATTTCATA	0.378																																						ENST00000478691.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(391-393)cGc>cAc		heterogeneous nuclear ribonucleoprotein R							112.0	117.0	115.0					1																	23648137		2203	4300	6503	SO:0001583	missense	10236					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr1:23648137C>T	AF000364	CCDS232.1, CCDS44085.1, CCDS60020.1, CCDS72726.1, CCDS72727.1	1p36.12	2013-02-12		2007-08-16	ENSG00000125944	ENSG00000125944		"""RNA binding motif (RRM) containing"""	5047	protein-coding gene	gene with protein product		607201		HNRPR		9421497	Standard	XM_005245711		Approved	hnRNP-R	uc001bgp.4	O43390	OTTHUMG00000003224	ENST00000374612.1:c.695G>A	1.37:g.23648137C>T	ENSP00000363741:p.Arg232His					HNRNPR_ENST00000302271.6_Missense_Mutation_p.R232H|HNRNPR_ENST00000374612.1_Missense_Mutation_p.R232H|HNRNPR_ENST00000427764.2_Missense_Mutation_p.R194H|HNRNPR_ENST00000426846.2_Missense_Mutation_p.R72H|HNRNPR_ENST00000606561.1_Missense_Mutation_p.R93H|HNRNPR_ENST00000374616.3_Missense_Mutation_p.R232H	p.R131H	NM_001102397.1|NM_001102399.1	NP_001095867.1|NP_001095869.1	O43390	HNRPR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)	6	663	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	232			Asp/Glu-rich (acidic).		Q2L7G6|Q5TEH1|Q9BV64|S4R3J4	Missense_Mutation	SNP	ENST00000374612.1	37	c.392G>A	CCDS232.1	.	.	.	.	.	.	.	.	.	.	C	32	5.146399	0.94603	.	.	ENSG00000125944	ENST00000374616;ENST00000374612;ENST00000302271;ENST00000427764;ENST00000426846	T;T;T;T;T	0.35789	1.94;1.92;1.92;1.29;2.77	4.87	4.87	0.63330	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	T	0.57489	0.2057	L	0.60904	1.88	0.80722	D	1	D;D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;0.992;1.0	P;D;D;D;P;D	0.91635	0.826;0.999;0.999;0.996;0.877;0.993	T	0.60611	-0.7229	10	0.72032	D	0.01	-1.4045	16.9396	0.86213	0.0:1.0:0.0:0.0	.	72;194;93;209;232;232	E7ETM7;Q2L7G6;B4DT28;Q6MZS5;O43390;O43390-2	.;.;.;.;HNRPR_HUMAN;.	H	232;232;232;194;72	ENSP00000363745:R232H;ENSP00000363741:R232H;ENSP00000304405:R232H;ENSP00000392799:R194H;ENSP00000415042:R72H	ENSP00000304405:R232H	R	-	2	0	HNRNPR	23520724	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.669000	0.83911	2.430000	0.82344	0.561000	0.74099	CGC		0.378	HNRNPR-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008889.1	NM_005826		147	314	0	0	0	1	0	147	314				
MLXIP	22877	broad.mit.edu	37	12	122623025	122623025	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr12:122623025C>A	ENST00000319080.7	+	14	2443	c.2311C>A	c.(2311-2313)Cag>Aag	p.Q771K	MLXIP_ENST00000538698.1_Missense_Mutation_p.Q378K					MLX interacting protein											NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		CAAGCTGCAGCAGGAGAGAGG	0.627																																					Esophageal Squamous(105;787 1493 16200 18566 52466)	ENST00000319080.6																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20						c.(2311-2313)Cag>Aag		MLX interacting protein							40.0	47.0	45.0					12																	122623025		2185	4279	6464	SO:0001583	missense	22877				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding	g.chr12:122623025C>A	AB020674	CCDS73540.1	12q21.31	2013-05-21				ENSG00000175727		"""Basic helix-loop-helix proteins"""	17055	protein-coding gene	gene with protein product		608090				10048485, 11073985	Standard	XM_006719290		Approved	MONDOA, KIAA0867, MIR, bHLHe36	uc001ubq.3	Q9HAP2		ENST00000319080.7:c.2311C>A	12.37:g.122623025C>A	ENSP00000312834:p.Gln771Lys					MLXIP_ENST00000538698.1_Missense_Mutation_p.Q378K	p.Q771K			Q9HAP2	MLXIP_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)	14	2443	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)	771			Leucine-zipper.			Missense_Mutation	SNP	ENST00000319080.7	37	c.2311C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.385722|5.385722	0.95967|0.95967	.|.	.|.	ENSG00000175727|ENSG00000175727	ENST00000319080;ENST00000538698;ENST00000366272|ENST00000542417	D;D;D|.	0.98345|.	-4.88;-4.88;-4.88|.	5.03|5.03	5.03|5.03	0.67393|0.67393	Helix-loop-helix DNA-binding (3);|.	0.057709|.	0.64402|.	D|.	0.000001|.	T|T	0.74313|0.74313	0.3700|0.3700	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	D|.	0.55605|.	0.972|.	P|.	0.49799|.	0.622|.	T|T	0.73978|0.73978	-0.3812|-0.3812	9|4	0.27785|.	T|.	0.31|.	-21.0894|-21.0894	18.3685|18.3685	0.90399|0.90399	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	771|.	Q9HAP2|.	MLXIP_HUMAN|.	K|R	771;378;242|106	ENSP00000312834:Q771K;ENSP00000440769:Q378K;ENSP00000445891:Q242K|.	ENSP00000312834:Q771K|.	Q|S	+|+	1|3	0|2	MLXIP|MLXIP	121188978|121188978	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	7.634000|7.634000	0.83273|0.83273	2.329000|2.329000	0.79093|0.79093	0.561000|0.561000	0.74099|0.74099	CAG|AGC		0.627	MLXIP-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401718.2	NM_014938		6	222	1	0	1	1	1	6	222				
SAMD9	54809	broad.mit.edu	37	7	92732859	92732859	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr7:92732859A>G	ENST00000379958.2	-	3	2821	c.2552T>C	c.(2551-2553)aTt>aCt	p.I851T		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	851						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TATTACGGCAATACTGTCTGG	0.343																																						ENST00000379958.2																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(2551-2553)aTt>aCt		sterile alpha motif domain containing 9							64.0	62.0	63.0					7																	92732859		2203	4297	6500	SO:0001583	missense	54809					cytoplasm		g.chr7:92732859A>G	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.2552T>C	7.37:g.92732859A>G	ENSP00000369292:p.Ile851Thr						p.I851T	NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		3	2821	-	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		851					A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	37	c.2552T>C	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	A	7.577	0.668027	0.14710	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	D;D	0.81499	-1.5;-1.5	4.32	4.32	0.51571	.	0.103207	0.41294	U	0.000918	T	0.76730	0.4028	M	0.65975	2.015	0.26245	N	0.978804	B	0.33694	0.421	B	0.28139	0.086	T	0.73898	-0.3837	10	0.87932	D	0	-2.2486	12.4185	0.55508	1.0:0.0:0.0:0.0	.	851	Q5K651	SAMD9_HUMAN	T	851	ENSP00000369292:I851T;ENSP00000414529:I851T	ENSP00000369292:I851T	I	-	2	0	SAMD9	92570795	0.022000	0.18835	0.116000	0.21606	0.070000	0.16714	2.972000	0.49256	1.813000	0.52934	0.496000	0.49642	ATT		0.343	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		97	333	0	0	0	1	0	97	333				
CCDC125	202243	broad.mit.edu	37	5	68590723	68590723	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr5:68590723G>A	ENST00000396496.2	-	9	928	c.821C>T	c.(820-822)gCg>gTg	p.A274V	CCDC125_ENST00000511257.1_Missense_Mutation_p.A149V|CCDC125_ENST00000396499.1_Missense_Mutation_p.A274V|CCDC125_ENST00000383374.2_Intron|CCDC125_ENST00000460090.1_5'UTR			Q86Z20	CC125_HUMAN	coiled-coil domain containing 125	274						cytoplasm (GO:0005737)		p.A274V(2)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|urinary_tract(1)	19		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)		TCCGAGGACCGCAAGCTTTAA	0.488																																						ENST00000396496.2																			2	Substitution - Missense(2)	p.A274V(2)	lung(1)|kidney(1)	breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|urinary_tract(1)	19						c.(820-822)gCg>gTg		coiled-coil domain containing 125							83.0	85.0	85.0					5																	68590723		2203	4300	6503	SO:0001583	missense	202243					cytoplasm		g.chr5:68590723G>A	AB024691	CCDS4000.1, CCDS75255.1	5q13.2	2008-02-05			ENSG00000183323	ENSG00000183323			28924	protein-coding gene	gene with protein product		613781					Standard	XM_005248461		Approved	KENAE	uc003jvv.1	Q86Z20	OTTHUMG00000131259	ENST00000396496.2:c.821C>T	5.37:g.68590723G>A	ENSP00000379754:p.Ala274Val					CCDC125_ENST00000511257.1_Missense_Mutation_p.A149V|CCDC125_ENST00000460090.1_5'UTR|CCDC125_ENST00000396499.1_Missense_Mutation_p.A274V|CCDC125_ENST00000383374.2_Intron	p.A274V			Q86Z20	CC125_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)	9	928	-		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)	274					Q86Z19	Missense_Mutation	SNP	ENST00000396496.2	37	c.821C>T	CCDS4000.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.032379	0.54790	.	.	ENSG00000183323	ENST00000396496;ENST00000396499;ENST00000511257	T;T;T	0.58210	0.35;0.35;0.35	5.1	3.3	0.37823	.	0.283555	0.39146	N	0.001444	T	0.45216	0.1331	M	0.64404	1.975	0.09310	N	1	P;P	0.47841	0.862;0.901	B;B	0.39771	0.309;0.187	T	0.42050	-0.9474	10	0.49607	T	0.09	7.2848	7.4586	0.27280	0.0859:0.0:0.7482:0.1659	.	149;274	Q86Z20-2;Q86Z20	.;CC125_HUMAN	V	274;274;149	ENSP00000379754:A274V;ENSP00000379756:A274V;ENSP00000426795:A149V	ENSP00000379754:A274V	A	-	2	0	CCDC125	68626479	1.000000	0.71417	0.013000	0.15412	0.609000	0.37215	3.984000	0.56923	0.722000	0.32252	0.650000	0.86243	GCG		0.488	CCDC125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254027.4	NM_176816		6	503	0	0	0	1	0	6	503				
PRPF8	10594	broad.mit.edu	37	17	1577073	1577073	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr17:1577073G>A	ENST00000572621.1	-	21	3678	c.3413C>T	c.(3412-3414)gCc>gTc	p.A1138V	PRPF8_ENST00000304992.6_Missense_Mutation_p.A1138V			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1138	Reverse transcriptase homology domain.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GCGCATGCGGGCATCTCGGGG	0.517																																						ENST00000572621.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77						c.(3412-3414)gCc>gTc		pre-mRNA processing factor 8							173.0	160.0	164.0					17																	1577073		2203	4300	6503	SO:0001583	missense	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1577073G>A	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.3413C>T	17.37:g.1577073G>A	ENSP00000460348:p.Ala1138Val					PRPF8_ENST00000304992.6_Missense_Mutation_p.A1138V	p.A1138V			Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	21	3678	-			1138					O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	c.3413C>T	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.512129	0.85389	.	.	ENSG00000174231	ENST00000304992	D	0.81821	-1.54	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.84754	0.5542	M	0.81942	2.565	0.80722	D	1	B	0.27117	0.168	B	0.34489	0.184	D	0.83667	0.0164	10	0.72032	D	0.01	.	19.4672	0.94948	0.0:0.0:1.0:0.0	.	1138	Q6P2Q9	PRP8_HUMAN	V	1138	ENSP00000304350:A1138V	ENSP00000304350:A1138V	A	-	2	0	PRPF8	1523823	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.652000	0.98499	2.833000	0.97629	0.585000	0.79938	GCC		0.517	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			5	582	0	0	0	1	0	5	582				
OR2Y1	134083	broad.mit.edu	37	5	180166493	180166493	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr5:180166493G>A	ENST00000307832.2	-	1	606	c.566C>T	c.(565-567)gCg>gTg	p.A189V		NM_001001657.1	NP_001001657.1	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y, member 1	189						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTCTGTGTCCGCACAAGCCAA	0.507																																						ENST00000307832.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(565-567)gCg>gTg		olfactory receptor, family 2, subfamily Y, member 1							82.0	70.0	74.0					5																	180166493		2203	4300	6503	SO:0001583	missense	134083				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr5:180166493G>A	AB065676	CCDS34323.1	5q35	2012-08-09			ENSG00000174339	ENSG00000174339		"""GPCR / Class A : Olfactory receptors"""	14837	protein-coding gene	gene with protein product							Standard	NM_001001657		Approved		uc003mmf.1	Q8NGV0	OTTHUMG00000162237	ENST00000307832.2:c.566C>T	5.37:g.180166493G>A	ENSP00000312403:p.Ala189Val						p.A189V	NM_001001657.1	NP_001001657.1	Q8NGV0	OR2Y1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	606	-	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	189					B9EIP1|Q6IFB1|Q96R16	Missense_Mutation	SNP	ENST00000307832.2	37	c.566C>T	CCDS34323.1	.	.	.	.	.	.	.	.	.	.	g	0.125	-1.120816	0.01785	.	.	ENSG00000174339	ENST00000307832	T	0.00137	8.68	4.41	-8.81	0.00813	GPCR, rhodopsin-like superfamily (1);	2.447600	0.01860	N	0.036546	T	0.00039	0.0001	N	0.02685	-0.53	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.45891	-0.9230	10	0.02654	T	1	.	1.5139	0.02502	0.3935:0.1488:0.3068:0.1509	.	189	Q8NGV0	OR2Y1_HUMAN	V	189	ENSP00000312403:A189V	ENSP00000312403:A189V	A	-	2	0	OR2Y1	180099099	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.460000	0.06720	-1.715000	0.01389	-1.294000	0.01345	GCG		0.507	OR2Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368059.2	XM_068682		6	369	0	0	0	1	0	6	369				
UBBP4	23666	broad.mit.edu	37	17	21730916	21730916	+	Missense_Mutation	SNP	G	G	T	rs111245273	byFrequency	TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr17:21730916G>T	ENST00000578713.1	+	1	222	c.218G>T	c.(217-219)cGg>cTg	p.R73L	UBBP4_ENST00000584755.1_Missense_Mutation_p.R73L|UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584398.1_Intron					ubiquitin B pseudogene 4									p.R73L(24)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCGGAGAGGTGGT	0.552													.|||	27	0.00539137	0.0182	0.0029	5008	,	,		20752	0.0		0.0	False		,,,				2504	0.001					ENST00000584755.1																			24	Substitution - Missense(24)	p.R73L(24)	kidney(9)|urinary_tract(6)|endometrium(6)|prostate(3)	endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(217-219)cGg>cTg																																						SO:0001583	missense	0							g.chr17:21730916G>T	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.218G>T	17.37:g.21730916G>T	ENSP00000464265:p.Arg73Leu					UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000578713.1_Missense_Mutation_p.R73L|UBBP4_ENST00000583708.1_Intron	p.R73L							2	615	+									Missense_Mutation	SNP	ENST00000578713.1	37	c.218G>T																																																																																					0.552	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444589.2			6	276	1	0	0.0381472	1	0.0384362	6	276				
AKT1	207	broad.mit.edu	37	14	105239615	105239615	+	Silent	SNP	G	G	A	rs146847196		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr14:105239615G>A	ENST00000554581.1	-	9	2410	c.930C>T	c.(928-930)tgC>tgT	p.C310C	AKT1_ENST00000555458.1_Silent_p.C5C|AKT1_ENST00000554192.1_Silent_p.C30C|AKT1_ENST00000544168.1_Silent_p.C248C|AKT1_ENST00000402615.2_Silent_p.C310C|AKT1_ENST00000349310.3_Silent_p.C310C|AKT1_ENST00000407796.2_Silent_p.C310C|AKT1_ENST00000554585.1_5'UTR|AKT1_ENST00000554848.1_Silent_p.C310C|AKT1_ENST00000555528.1_Silent_p.C310C			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	310	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation-induced cell death of T cells (GO:0006924)|aging (GO:0007568)|anagen (GO:0042640)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell projection organization (GO:0030030)|cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to mechanical stimulus (GO:0071260)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|execution phase of apoptosis (GO:0097194)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycogen cell differentiation involved in embryonic placenta development (GO:0060709)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|labyrinthine layer blood vessel development (GO:0060716)|mammary gland epithelial cell differentiation (GO:0060644)|maternal placenta development (GO:0001893)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of proteolysis (GO:0045861)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|osteoblast differentiation (GO:0001649)|peptidyl-serine phosphorylation (GO:0018105)|peripheral nervous system myelin maintenance (GO:0032287)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell growth (GO:0030307)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle checkpoint (GO:1901976)|regulation of cell migration (GO:0030334)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of neuron projection development (GO:0010975)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of translation (GO:0006417)|response to fluid shear stress (GO:0034405)|response to food (GO:0032094)|response to heat (GO:0009408)|response to UV-A (GO:0070141)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|striated muscle cell differentiation (GO:0051146)|T cell costimulation (GO:0031295)|translation (GO:0006412)	cell-cell junction (GO:0005911)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|kinase activity (GO:0016301)|nitric-oxide synthase regulator activity (GO:0030235)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	CAGGTGTGCCGCAAAAGGTCT	0.602		1	Mis		"""breast, colorectal, ovarian, NSCLC"""																																	ENST00000554581.1		1		Dom	yes		14	14q32.32	207	Mis	v-akt murine thymoma viral oncogene homolog 1			E			"""breast, colorectal, ovarian, NSCLC"""		0				NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176						c.(928-930)tgC>tgT		v-akt murine thymoma viral oncogene homolog 1	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	A	,,	1,4405	2.1+/-5.4	0,1,2202	165.0	113.0	131.0		930,930,930	-3.2	0.9	14	dbSNP_134	131	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	AKT1	NM_001014431.1,NM_001014432.1,NM_005163.2	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	310/481,310/481,310/481	105239615	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	207				activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity	g.chr14:105239615G>A	M63167	CCDS9994.1	14q32.33	2014-09-17			ENSG00000142208	ENSG00000142208	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	391	protein-coding gene	gene with protein product		164730					Standard	XM_005267401		Approved	RAC, PKB, PRKBA, AKT	uc001ypn.3	P31749	OTTHUMG00000170795	ENST00000554581.1:c.930C>T	14.37:g.105239615G>A						AKT1_ENST00000554192.1_Silent_p.C30C|AKT1_ENST00000555528.1_Silent_p.C310C|AKT1_ENST00000555458.1_Silent_p.C5C|AKT1_ENST00000554585.1_5'UTR|AKT1_ENST00000544168.1_Silent_p.C248C|AKT1_ENST00000554848.1_Silent_p.C310C|AKT1_ENST00000407796.2_Silent_p.C310C|AKT1_ENST00000402615.2_Silent_p.C310C|AKT1_ENST00000349310.3_Silent_p.C310C	p.C310C			P31749	AKT1_HUMAN	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	9	2410	-		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	310			Protein kinase.		B2RAM5|B7Z5R1|Q9BWB6	Silent	SNP	ENST00000554581.1	37	c.930C>T	CCDS9994.1																																																																																				0.602	AKT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410418.1	NM_005163		5	251	0	0	0	1	0	5	251				
HSD11B1	3290	broad.mit.edu	37	1	209880366	209880366	+	Missense_Mutation	SNP	G	G	A	rs376208100		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr1:209880366G>A	ENST00000367028.2	+	5	579	c.410G>A	c.(409-411)cGc>cAc	p.R137H	HSD11B1_ENST00000367027.3_Missense_Mutation_p.R137H|HSD11B1_ENST00000261465.1_Missense_Mutation_p.R137H|RP1-28O10.1_ENST00000441672.1_RNA	NM_001206741.1	NP_001193670.1	P28845	DHI1_HUMAN	hydroxysteroid (11-beta) dehydrogenase 1	137					glucocorticoid biosynthetic process (GO:0006704)|lung development (GO:0030324)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	11-beta-hydroxysteroid dehydrogenase (NADP+) activity (GO:0070524)|11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity (GO:0003845)			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	16				OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	Prednisone(DB00635)	CACCATGTGCGCAAAAGCATG	0.448																																						ENST00000367028.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	16						c.(409-411)cGc>cAc		hydroxysteroid (11-beta) dehydrogenase 1	NADH(DB00157)	G	HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	189.0	164.0	172.0		410,410,410	4.1	1.0	1		172	0,8600		0,0,4300	no	missense,missense,missense	HSD11B1	NM_001206741.1,NM_005525.3,NM_181755.2	29,29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	137/293,137/293,137/293	209880366	1,13005	2203	4300	6503	SO:0001583	missense	3290				glucocorticoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	11-beta-hydroxysteroid dehydrogenase|11-beta-hydroxysteroid dehydrogenase (NADP+) activity|binding	g.chr1:209880366G>A	BC012593	CCDS1489.1	1q32-q41	2011-09-20			ENSG00000117594	ENSG00000117594	1.1.1.146	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	5208	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 26C, member 1"""	600713		HSD11B, HSD11		1885595, 19027726	Standard	NM_005525		Approved	SDR26C1	uc001hhk.3	P28845	OTTHUMG00000036481	ENST00000367028.2:c.410G>A	1.37:g.209880366G>A	ENSP00000355995:p.Arg137His					HSD11B1_ENST00000261465.1_Missense_Mutation_p.R137H|RP1-28O10.1_ENST00000441672.1_RNA|HSD11B1_ENST00000367027.3_Missense_Mutation_p.R137H	p.R137H	NM_001206741.1	NP_001193670.1	P28845	DHI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	5	579	+			137					B2R9Z1|D3DT89	Missense_Mutation	SNP	ENST00000367028.2	37	c.410G>A	CCDS1489.1	.	.	.	.	.	.	.	.	.	.	G	15.79	2.937659	0.52972	2.27E-4	0.0	ENSG00000117594	ENST00000367028;ENST00000261465;ENST00000367027	D;D;D	0.87887	-2.31;-2.31;-2.31	5.05	4.05	0.47172	NAD(P)-binding domain (1);	0.265411	0.39341	N	0.001395	D	0.89146	0.6632	L	0.51853	1.615	0.44268	D	0.997126	D	0.89917	1.0	D	0.67900	0.954	D	0.86710	0.1935	10	0.38643	T	0.18	.	9.5098	0.39069	0.0766:0.0:0.7787:0.1447	.	137	P28845	DHI1_HUMAN	H	137	ENSP00000355995:R137H;ENSP00000261465:R137H;ENSP00000355994:R137H	ENSP00000261465:R137H	R	+	2	0	HSD11B1	207946989	0.908000	0.30866	0.975000	0.42487	0.980000	0.70556	1.464000	0.35288	2.737000	0.93849	0.563000	0.77884	CGC		0.448	HSD11B1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088743.2	NM_005525		5	562	0	0	0	1	0	5	562				
ZNF83	55769	broad.mit.edu	37	19	53116804	53116804	+	Silent	SNP	G	G	A	rs192432041	byFrequency	TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr19:53116804G>A	ENST00000597597.1	-	2	3267	c.1014C>T	c.(1012-1014)atC>atT	p.I338I	ZNF83_ENST00000594682.2_3'UTR|ZNF83_ENST00000545872.1_Silent_p.I338I|ZNF83_ENST00000541777.2_Silent_p.I338I|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000391789.4_Silent_p.I310I|ZNF83_ENST00000536937.1_Silent_p.I338I|ZNF83_ENST00000301096.3_Silent_p.I338I|ZNF83_ENST00000544146.1_Silent_p.I338I			P51522	ZNF83_HUMAN	zinc finger protein 83	338					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I338I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		CTCCAGTGTGGATTCTCCAGT	0.413													A|||	3	0.000599042	0.0	0.0014	5008	,	,		22957	0.001		0.001	False		,,,				2504	0.0					ENST00000597597.1																			1	Substitution - coding silent(1)	p.I338I(1)	lung(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18						c.(1012-1014)atC>atT		zinc finger protein 83							120.0	122.0	121.0					19																	53116804		2203	4300	6503	SO:0001819	synonymous_variant	55769					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:53116804G>A	M27877	CCDS12854.1	19q13.3	2013-01-08	2006-05-12			ENSG00000167766		"""Zinc fingers, C2H2-type"""	13158	protein-coding gene	gene with protein product		194558	"""zinc finger protein 83 (HPF1)"", ""zinc finger protein 816B"""	ZNF816B		8088807	Standard	NM_018300		Approved	FLJ11015, HPF1	uc010epy.3	P51522		ENST00000597597.1:c.1014C>T	19.37:g.53116804G>A						ZNF83_ENST00000545872.1_Silent_p.I338I|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000391789.4_Silent_p.I310I|ZNF83_ENST00000301096.3_Silent_p.I338I|ZNF83_ENST00000544146.1_Silent_p.I338I|ZNF83_ENST00000541777.2_Silent_p.I338I|ZNF83_ENST00000536937.1_Silent_p.I338I	p.I338I			P51522	ZNF83_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)	2	3267	-			338					A8MT75|Q3ZCX0|Q6PI08	Silent	SNP	ENST00000597597.1	37	c.1014C>T	CCDS12854.1																																																																																				0.413	ZNF83-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463700.1	NM_018300		8	784	0	0	0	1	0	8	784				
ADAMTS15	170689	broad.mit.edu	37	11	130343151	130343151	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr11:130343151G>A	ENST00000299164.2	+	8	2288	c.2288G>A	c.(2287-2289)gGc>gAc	p.G763D		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	763	Spacer.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		AGCGGCACGGGCACAGCGGTG	0.672																																						ENST00000299164.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36						c.(2287-2289)gGc>gAc		ADAM metallopeptidase with thrombospondin type 1 motif, 15							62.0	58.0	60.0					11																	130343151		2201	4297	6498	SO:0001583	missense	170689				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:130343151G>A	AJ315733	CCDS8488.1	11q25	2008-02-01	2005-08-19		ENSG00000166106	ENSG00000166106		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	16305	protein-coding gene	gene with protein product		607509	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 15"""			11867212	Standard	NM_139055		Approved		uc010scd.2	Q8TE58	OTTHUMG00000165657	ENST00000299164.2:c.2288G>A	11.37:g.130343151G>A	ENSP00000299164:p.Gly763Asp						p.G763D	NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)	8	2288	+	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	763			Spacer.		Q32MI6	Missense_Mutation	SNP	ENST00000299164.2	37	c.2288G>A	CCDS8488.1	.	.	.	.	.	.	.	.	.	.	G	14.68	2.608254	0.46527	.	.	ENSG00000166106	ENST00000299164	T	0.48522	0.81	5.91	4.98	0.66077	ADAM-TS Spacer 1 (1);	.	.	.	.	T	0.28632	0.0709	N	0.03154	-0.405	0.49130	D	0.999751	B	0.32653	0.379	B	0.37091	0.241	T	0.12941	-1.0528	9	0.13853	T	0.58	.	16.8982	0.86106	0.0:0.1282:0.8718:0.0	.	763	Q8TE58	ATS15_HUMAN	D	763	ENSP00000299164:G763D	ENSP00000299164:G763D	G	+	2	0	ADAMTS15	129848361	1.000000	0.71417	0.901000	0.35422	0.984000	0.73092	2.463000	0.45058	1.475000	0.48197	0.655000	0.94253	GGC		0.672	ADAMTS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385638.1	NM_139055		5	504	0	0	0	1	0	5	504				
RANBP2	5903	broad.mit.edu	37	2	109371669	109371669	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr2:109371669A>G	ENST00000283195.6	+	17	2546	c.2420A>G	c.(2419-2421)cAg>cGg	p.Q807R		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	807					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GCAGAAGATCAGAATTCTTTA	0.333																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(2419-2421)cAg>cGg		RAN binding protein 2							148.0	169.0	162.0					2																	109371669		2201	4299	6500	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109371669A>G	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.2420A>G	2.37:g.109371669A>G	ENSP00000283195:p.Gln807Arg						p.Q807R	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			17	2546	+			807					Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.2420A>G	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	a	16.65	3.182482	0.57800	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.25749	1.78	5.8	5.8	0.92144	.	.	.	.	.	T	0.30634	0.0771	L	0.36672	1.1	0.37082	D	0.89904	P	0.52463	0.953	P	0.50109	0.631	T	0.11251	-1.0595	9	0.30854	T	0.27	-7.4262	16.1496	0.81605	1.0:0.0:0.0:0.0	.	807	P49792	RBP2_HUMAN	R	807	ENSP00000283195:Q807R	ENSP00000283195:Q807R	Q	+	2	0	RANBP2	108738101	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.048000	0.89442	2.210000	0.71456	0.443000	0.29094	CAG		0.333	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		11	1159	0	0	0	1	0	11	1159				
CA5B	11238	broad.mit.edu	37	X	15800764	15800764	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chrX:15800764G>A	ENST00000318636.3	+	8	1067	c.931G>A	c.(931-933)Gcc>Acc	p.A311T	CA5B_ENST00000454127.2_Missense_Mutation_p.A311T	NM_007220.3	NP_009151.1	Q8WTZ4	CA5BL_HUMAN	carbonic anhydrase VB, mitochondrial	0						mitochondrion (GO:0005739)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|lung(3)|prostate(1)|stomach(2)	9	Hepatocellular(33;0.183)					ACCCAAGCCGGCCACCAGCCA	0.438																																						ENST00000318636.3																			0				endometrium(1)|kidney(2)|lung(3)|prostate(1)|stomach(2)	9						c.(931-933)Gcc>Acc		carbonic anhydrase VB, mitochondrial							85.0	75.0	78.0					X																	15800764		2203	4300	6503	SO:0001583	missense	11238				one-carbon metabolic process	mitochondrion	carbonate dehydratase activity|zinc ion binding	g.chrX:15800764G>A	AB021660	CCDS14171.1	Xp22.1	2008-08-13			ENSG00000169239	ENSG00000169239		"""Carbonic anhydrases"""	1378	protein-coding gene	gene with protein product		300230				10409679	Standard	XM_005274442		Approved		uc004cxe.3	Q9Y2D0	OTTHUMG00000021183	ENST00000318636.3:c.931G>A	X.37:g.15800764G>A	ENSP00000314099:p.Ala311Thr					CA5B_ENST00000454127.2_Missense_Mutation_p.A311T	p.A311T	NM_007220.3	NP_009151.1	Q9Y2D0	CAH5B_HUMAN			8	1067	+	Hepatocellular(33;0.183)		311					A6NEZ4	Missense_Mutation	SNP	ENST00000318636.3	37	c.931G>A	CCDS14171.1	.	.	.	.	.	.	.	.	.	.	G	5.991	0.366850	0.11352	.	.	ENSG00000169239	ENST00000318636;ENST00000454127	T;T	0.68765	-0.35;-0.35	5.39	-0.177	0.13307	.	1.471110	0.03979	N	0.293022	T	0.29190	0.0726	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34950	-0.9808	10	0.02654	T	1	2.289	0.7556	0.00998	0.2176:0.1744:0.3577:0.2504	.	311	Q9Y2D0	CAH5B_HUMAN	T	311	ENSP00000314099:A311T;ENSP00000417021:A311T	ENSP00000314099:A311T	A	+	1	0	CA5B	15710685	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	0.033000	0.13754	-0.422000	0.07405	0.600000	0.82982	GCC		0.438	CA5B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354933.1	NM_007220		5	589	0	0	0	1	0	5	589				
RTN4R	65078	broad.mit.edu	37	22	20229361	20229361	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr22:20229361C>T	ENST00000043402.7	-	2	1733	c.1295G>A	c.(1294-1296)gGc>gAc	p.G432D	RTN4R_ENST00000469601.1_5'Flank	NM_023004.5	NP_075380.1	Q9BZR6	RTN4R_HUMAN	reticulon 4 receptor	432					axonogenesis (GO:0007409)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			lung(1)|ovary(1)|prostate(1)	3	Colorectal(54;0.0993)					GCCTGCCTGGCCCAGACGGCA	0.731																																						ENST00000043402.7																			0				lung(1)|ovary(1)|prostate(1)	3						c.(1294-1296)gGc>gAc		reticulon 4 receptor							8.0	9.0	9.0					22																	20229361		2114	4160	6274	SO:0001583	missense	65078				axonogenesis|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	anchored to membrane|cell surface|endoplasmic reticulum|plasma membrane	protein binding|receptor activity	g.chr22:20229361C>T	AF283463	CCDS13777.1	22q11	2008-05-02			ENSG00000040608	ENSG00000040608			18601	protein-coding gene	gene with protein product		605566				11201742	Standard	NM_023004		Approved	NOGOR	uc002zrv.3	Q9BZR6	OTTHUMG00000150572	ENST00000043402.7:c.1295G>A	22.37:g.20229361C>T	ENSP00000043402:p.Gly432Asp						p.G432D	NM_023004.5	NP_075380.1	Q9BZR6	RTN4R_HUMAN			2	1733	-	Colorectal(54;0.0993)		432					D3DX28	Missense_Mutation	SNP	ENST00000043402.7	37	c.1295G>A	CCDS13777.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.46|14.46	2.541897|2.541897	0.45280|0.45280	.|.	.|.	ENSG00000040608|ENSG00000040608	ENST00000416372;ENST00000425986|ENST00000043402	.|T	.|0.62105	.|0.05	3.35|3.35	2.31|2.31	0.28768|0.28768	.|.	.|.	.|.	.|.	.|.	T|T	0.58524|0.58524	0.2128|0.2128	L|L	0.39898|0.39898	1.24|1.24	0.36293|0.36293	D|D	0.856517|0.856517	.|D	.|0.69078	.|0.997	.|P	.|0.55011	.|0.766	T|T	0.59215|0.59215	-0.7496|-0.7496	5|9	.|0.25106	.|T	.|0.35	.|.	6.5148|6.5148	0.22242|0.22242	0.0:0.8615:0.0:0.1385|0.0:0.8615:0.0:0.1385	.|.	.|432	.|Q9BZR6	.|RTN4R_HUMAN	T|D	452;518|432	.|ENSP00000043402:G432D	.|ENSP00000043402:G432D	A|G	-|-	1|2	0|0	RTN4R|RTN4R	18609361|18609361	0.057000|0.057000	0.20700|0.20700	0.998000|0.998000	0.56505|0.56505	0.878000|0.878000	0.50629|0.50629	0.829000|0.829000	0.27449|0.27449	0.740000|0.740000	0.32651|0.32651	0.305000|0.305000	0.20034|0.20034	GCC|GGC		0.731	RTN4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318950.2			22	67	0	0	0	1	0	22	67				
UBBP4	23666	broad.mit.edu	37	17	21730847	21730847	+	Missense_Mutation	SNP	G	G	T	rs570609187	byFrequency	TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr17:21730847G>T	ENST00000578713.1	+	1	153	c.149G>T	c.(148-150)cGg>cTg	p.R50L	UBBP4_ENST00000584755.1_Missense_Mutation_p.R50L|UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584398.1_Intron					ubiquitin B pseudogene 4											endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GGCAAGCAGCGGGAAGATGGC	0.522													.|||	3	0.000599042	0.0008	0.0	5008	,	,		21142	0.002		0.0	False		,,,				2504	0.0					ENST00000584755.1																			0				endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(148-150)cGg>cTg																																						SO:0001583	missense	0							g.chr17:21730847G>T	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.149G>T	17.37:g.21730847G>T	ENSP00000464265:p.Arg50Leu					UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000578713.1_Missense_Mutation_p.R50L|UBBP4_ENST00000583708.1_Intron	p.R50L							2	546	+									Missense_Mutation	SNP	ENST00000578713.1	37	c.149G>T																																																																																					0.522	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444589.2			5	202	1	0	0.014758	1	0.0149263	5	202				
KBTBD6	89890	broad.mit.edu	37	13	41705440	41705440	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr13:41705440G>T	ENST00000379485.1	-	1	1442	c.1208C>A	c.(1207-1209)aCa>aAa	p.T403K	KBTBD6_ENST00000499385.2_Missense_Mutation_p.T337K	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	403								p.T403K(7)		NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		CCAGAGGTCTGTCCTGGGCTG	0.507																																						ENST00000379485.1																			7	Substitution - Missense(7)	p.T403K(7)	prostate(2)|skin(2)|NS(1)|kidney(1)|endometrium(1)	NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43						c.(1207-1209)aCa>aAa		kelch repeat and BTB (POZ) domain containing 6							112.0	104.0	107.0					13																	41705440		2203	4300	6503	SO:0001583	missense	89890						protein binding	g.chr13:41705440G>T	AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572		"""BTB/POZ domain containing"""	25340	protein-coding gene	gene with protein product						12477932	Standard	NM_152903		Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.1208C>A	13.37:g.41705440G>T	ENSP00000368799:p.Thr403Lys					KBTBD6_ENST00000499385.2_Missense_Mutation_p.T337K	p.T403K	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)	1	1442	-		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	403					Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Missense_Mutation	SNP	ENST00000379485.1	37	c.1208C>A	CCDS9376.1	.	.	.	.	.	.	.	.	.	.	g	0.018	-1.482688	0.01027	.	.	ENSG00000165572	ENST00000379485;ENST00000499385	T;T	0.64618	-0.11;-0.11	3.8	1.18	0.20946	Kelch-type beta propeller (1);	0.117488	0.53938	N	0.000042	T	0.17066	0.0410	N	0.00260	-1.75	0.27866	N	0.940205	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39313	-0.9620	10	0.02654	T	1	.	5.3509	0.16036	0.0:0.1047:0.1871:0.7082	.	337;403	F5GZN7;Q86V97	.;KBTB6_HUMAN	K	403;337	ENSP00000368799:T403K;ENSP00000444326:T337K	ENSP00000368799:T403K	T	-	2	0	KBTBD6	40603440	1.000000	0.71417	0.993000	0.49108	0.691000	0.40173	3.048000	0.49862	0.145000	0.18977	-0.521000	0.04368	ACA		0.507	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044657.1	NM_152903		7	732	1	0	5.16669e-11	1	5.45372e-11	7	732				
GLTSCR2	29997	broad.mit.edu	37	19	48259965	48259965	+	Missense_Mutation	SNP	T	T	G			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr19:48259965T>G	ENST00000246802.5	+	12	1432	c.1394T>G	c.(1393-1395)gTg>gGg	p.V465G	CTD-2571L23.6_ENST00000602048.1_RNA|GLTSCR2_ENST00000598681.1_3'UTR|SNORD23_ENST00000408876.1_RNA	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	465				EGNILRDRFKSFQRRNMIEPRERAKFKRKYKVKLVEKRAFR EIQL -> RGQHSFETGSRAFRGGI (in Ref. 3; AAG30413). {ECO:0000305}.|PEGNILRDRFKSFQRRNMIEPRERAKFKRKYKVKLVEKRAF REIQ -> VLTVSCRGAPCPVMTPSLLPVPPRGYGRHHGCP WAGPVGPMPRG (in Ref. 5). {ECO:0000305}.		intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		AAGTACAAGGTGAAGCTGGTG	0.657																																					Colon(58;613 1041 9473 10089 15241)	ENST00000246802.5																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15						c.(1393-1395)gTg>gGg		glioma tumor suppressor candidate region gene 2							63.0	62.0	62.0					19																	48259965		2203	4300	6503	SO:0001583	missense	29997					nucleolus		g.chr19:48259965T>G	AF182076	CCDS12705.1	19q13.3	2014-01-20				ENSG00000105373			4333	protein-coding gene	gene with protein product		605691				10708517, 16971513, 17657248	Standard	NM_015710		Approved	PICT-1	uc002phm.2	Q9NZM5		ENST00000246802.5:c.1394T>G	19.37:g.48259965T>G	ENSP00000246802:p.Val465Gly					GLTSCR2_ENST00000598681.1_3'UTR	p.V465G	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)	12	1432	+		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)	465	EGNILRDRFKSFQRRNMIEPRERAKFKRKYKVKLVEKRAFR EIQL -> RGQHSFETGSRAFRGGI (in Ref. 3; AAG30413).|PEGNILRDRFKSFQRRNMIEPRERAKFKRKYKVKLVEKRAF REIQ -> VLTVSCRGAPCPVMTPSLLPVPPRGYGRHHGCP WAGPVGPMPRG (in Ref. 5).				Q9BTC6|Q9HAX6|Q9NPP1|Q9NPR4|Q9UFI2	Missense_Mutation	SNP	ENST00000246802.5	37	c.1394T>G	CCDS12705.1	.	.	.	.	.	.	.	.	.	.	T	19.72	3.879942	0.72294	.	.	ENSG00000105373	ENST00000246802;ENST00000325566;ENST00000446535	T	0.33438	1.41	4.79	3.73	0.42828	.	0.221650	0.37393	N	0.002114	T	0.35158	0.0922	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.69307	0.963	T	0.16867	-1.0388	10	0.87932	D	0	-26.9135	8.437	0.32793	0.0:0.0:0.1978:0.8022	.	465	Q9NZM5	GSCR2_HUMAN	G	465;459;250	ENSP00000246802:V465G	ENSP00000246802:V465G	V	+	2	0	GLTSCR2	52951777	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.128000	0.50492	0.918000	0.36919	0.533000	0.62120	GTG		0.657	GLTSCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464870.1	NM_015710		49	227	0	0	0	1	0	49	227				
CUL9	23113	broad.mit.edu	37	6	43164434	43164434	+	Silent	SNP	C	C	T			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr6:43164434C>T	ENST00000252050.4	+	11	2721	c.2637C>T	c.(2635-2637)tgC>tgT	p.C879C	CUL9_ENST00000354495.3_Silent_p.C769C|CUL9_ENST00000372647.2_Silent_p.C879C	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	879					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						TACTTTTGTGCAACCACCACA	0.502																																						ENST00000252050.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						c.(2635-2637)tgC>tgT		cullin 9							203.0	187.0	192.0					6																	43164434		2203	4300	6503	SO:0001819	synonymous_variant	23113				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	g.chr6:43164434C>T	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.2637C>T	6.37:g.43164434C>T						CUL9_ENST00000354495.3_Silent_p.C769C|CUL9_ENST00000372647.2_Silent_p.C879C	p.C879C	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN			11	2721	+			879					O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Silent	SNP	ENST00000252050.4	37	c.2637C>T	CCDS4890.1																																																																																				0.502	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		7	1116	0	0	0	1	0	7	1116				
OPN1LW	5956	broad.mit.edu	37	X	153420210	153420210	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chrX:153420210G>C	ENST00000369951.4	+	4	800	c.740G>C	c.(739-741)cGa>cCa	p.R247P	OPN1LW_ENST00000463296.1_Intron	NM_020061.4	NP_064445.2	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	247					phototransduction, visible light (GO:0007603)|positive regulation of cytokinesis (GO:0032467)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTGGCCATCCGAGCGGTAAGC	0.567																																						ENST00000369951.4																			0				endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15						c.(739-741)cGa>cCa		opsin 1 (cone pigments), long-wave-sensitive							191.0	141.0	158.0					X																	153420210		2186	4245	6431	SO:0001583	missense	5956				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity	g.chrX:153420210G>C	Z68193	CCDS14742.1	Xq28	2013-01-08	2008-04-16		ENSG00000102076	ENSG00000102076		"""GPCR / Class A : Opsin receptors"""	9936	protein-coding gene	gene with protein product	"""cone dystrophy 5 (X-linked)"""	300822	"""color blindness, protan"", ""red cone photoreceptor pigment"""	CBBM, RCP, CBP			Standard	NM_020061		Approved	COD5	uc004fjz.4	P04000	OTTHUMG00000034295	ENST00000369951.4:c.740G>C	X.37:g.153420210G>C	ENSP00000358967:p.Arg247Pro					OPN1LW_ENST00000463296.1_Intron	p.R247P	NM_020061.4	NP_064445.1	P04000	OPSR_HUMAN			4	800	+	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		247						Missense_Mutation	SNP	ENST00000369951.4	37	c.740G>C	CCDS14742.1	.	.	.	.	.	.	.	.	.	.	G	15.80	2.940087	0.52972	.	.	ENSG00000102076	ENST00000369951;ENST00000442922	T;T	0.44083	0.93;0.93	4.27	4.27	0.50696	GPCR, rhodopsin-like superfamily (1);	0.064338	0.64402	D	0.000007	T	0.51227	0.1662	M	0.86343	2.81	0.47862	D	0.999536	B	0.25955	0.138	B	0.26969	0.075	T	0.60414	-0.7268	10	0.72032	D	0.01	.	15.1182	0.72419	0.0:0.0:1.0:0.0	.	247	P04000	OPSR_HUMAN	P	247;110	ENSP00000358967:R247P;ENSP00000402493:R110P	ENSP00000358967:R247P	R	+	2	0	OPN1LW	153073404	1.000000	0.71417	0.999000	0.59377	0.739000	0.42172	5.820000	0.69250	1.888000	0.54679	0.372000	0.22366	CGA		0.567	OPN1LW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082839.2	NM_020061		33	1492	0	0	0	1	0	33	1492				
TOX2	84969	broad.mit.edu	37	20	42680013	42680013	+	Missense_Mutation	SNP	G	G	A	rs199879040		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr20:42680013G>A	ENST00000358131.5	+	4	714	c.506G>A	c.(505-507)cGc>cAc	p.R169H	TOX2_ENST00000435864.2_3'UTR|TOX2_ENST00000372999.1_Missense_Mutation_p.R118H|TOX2_ENST00000423191.2_Missense_Mutation_p.R118H|TOX2_ENST00000341197.4_Missense_Mutation_p.R160H	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	169					female gonad development (GO:0008585)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to gonadotropin (GO:0034698)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			CTGCTGGGTCGCCCGGCAATG	0.647													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14727	0.0		0.0	False		,,,				2504	0.0					ENST00000358131.5																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26						c.(505-507)cGc>cAc		TOX high mobility group box family member 2							23.0	25.0	25.0					20																	42680013		2201	4298	6499	SO:0001583	missense	84969				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr20:42680013G>A	BC007636	CCDS13324.1, CCDS42875.1, CCDS46603.1	20q13.12	2007-03-20	2007-03-20	2007-03-20					16095	protein-coding gene	gene with protein product	"""granulosa cell HMG box 1"""	611163	"""chromosome 20 open reading frame 100"""	C20orf100		14764631	Standard	NM_001098796		Approved	dJ1108D11.2, GCX-1	uc010ggo.3	Q96NM4		ENST00000358131.5:c.506G>A	20.37:g.42680013G>A	ENSP00000350849:p.Arg169His					TOX2_ENST00000423191.1_Missense_Mutation_p.R118H|TOX2_ENST00000341197.3_Missense_Mutation_p.R160H|TOX2_ENST00000372999.1_Missense_Mutation_p.R118H|TOX2_ENST00000435864.2_Missense_Mutation_p.R38H	p.R169H	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		4	714	+		Myeloproliferative disorder(115;0.00452)	169					A8K1J1|E1P5X0|G3XAC7|Q5TE33|Q5TE34|Q5TE35|Q96IC9|Q9BQN5	Missense_Mutation	SNP	ENST00000358131.5	37	c.506G>A	CCDS42875.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	15.49	2.847712	0.51164	.	.	ENSG00000124191	ENST00000341197;ENST00000442881;ENST00000423191;ENST00000372999;ENST00000358131;ENST00000435864	T;T;T;T;T;T	0.32515	2.66;1.45;2.68;2.68;2.46;2.42	5.76	4.81	0.61882	.	0.172966	0.52532	D	0.000077	T	0.49064	0.1535	L	0.52905	1.665	0.49582	D	0.999809	B;D;B;D;D	0.89917	0.154;1.0;0.089;0.999;1.0	B;D;B;P;D	0.83275	0.025;0.996;0.01;0.908;0.991	T	0.37641	-0.9697	10	0.22706	T	0.39	.	15.2536	0.73568	0.0:0.0:0.8586:0.1414	.	38;160;118;169;118	B4DQV8;G3XAC7;A8K1J1;Q96NM4;E1P5X0	.;.;.;TOX2_HUMAN;.	H	160;118;118;118;169;38	ENSP00000344724:R160H;ENSP00000396584:R118H;ENSP00000390278:R118H;ENSP00000362090:R118H;ENSP00000350849:R169H;ENSP00000396777:R38H	ENSP00000344724:R160H	R	+	2	0	TOX2	42113427	1.000000	0.71417	1.000000	0.80357	0.226000	0.24999	4.308000	0.59129	1.406000	0.46857	-0.181000	0.13052	CGC		0.647	TOX2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079329.2			68	200	0	0	0	1	0	68	200				
SPATA31A6	389730	broad.mit.edu	37	9	43630642	43630642	+	Silent	SNP	G	G	A	rs2808959		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr9:43630642G>A	ENST00000332857.6	-	1	88	c.60C>T	c.(58-60)agC>agT	p.S20S	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	20					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.S20S(1)									ATGGTGTGGAGCTGGGGGCGT	0.473																																						ENST00000332857.6																			1	Substitution - coding silent(1)	p.S20S(1)	endometrium(1)								c.(58-60)agC>agT		SPATA31 subfamily A, member 6																																				SO:0001819	synonymous_variant	389730							g.chr9:43630642G>A		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.60C>T	9.37:g.43630642G>A							p.S20S	NM_001145196.1	NP_001138668.1					1	88	-									Silent	SNP	ENST00000332857.6	37	c.60C>T	CCDS47973.1																																																																																				0.473	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		5	473	0	0	0	1	0	5	473				
AGAP6	414189	broad.mit.edu	37	10	51749117	51749117	+	Intron	SNP	G	G	A			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr10:51749117G>A	ENST00000374056.4	+	1	621				AGAP6_ENST00000412531.3_Silent_p.Q91Q			Q5VW22	AGAP6_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6						regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.Q91Q(1)		NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						CAATATTCCAGAGGAACTCTC	0.358																																						ENST00000412531.3																			1	Substitution - coding silent(1)	p.Q91Q(1)	prostate(1)	NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						c.(271-273)caG>caA		ArfGAP with GTPase domain, ankyrin repeat and PH domain 6																																				SO:0001627	intron_variant	414189				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:51749117G>A		CCDS44397.1	10q11.23	2013-01-10	2008-09-22	2008-09-22	ENSG00000204149	ENSG00000204149		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23466	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 3"""	CTGLF3			Standard	NM_001077665		Approved	bA324H6.1	uc001jix.4	Q5VW22	OTTHUMG00000018220	ENST00000374056.4:c.223+419G>A	10.37:g.51749117G>A						AGAP6_ENST00000374056.4_Intron	p.Q91Q	NM_001077665.2	NP_001071133.2	C9IYN2	C9IYN2_HUMAN			2	345	+			91						Silent	SNP	ENST00000374056.4	37	c.273G>A																																																																																					0.358	AGAP6-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001077665		14	285	0	0	0	1	0	14	285				
EHMT2	10919	broad.mit.edu	37	6	31851582	31851582	+	Splice_Site	SNP	C	C	A			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr6:31851582C>A	ENST00000375537.4	-	22	2923		c.e22+1		EHMT2-AS1_ENST00000434689.1_RNA|EHMT2_ENST00000395728.3_Splice_Site|EHMT2_ENST00000480912.1_Splice_Site|EHMT2_ENST00000375528.4_Splice_Site|EHMT2_ENST00000375530.4_Splice_Site	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2						DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						CCCCTACTCACCTGCAGGTGG	0.577																																						ENST00000395728.3																			0				central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						c.e21+1		euchromatic histone-lysine N-methyltransferase 2							129.0	133.0	131.0					6																	31851582		2203	4300	6503	SO:0001630	splice_region_variant	10919				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr6:31851582C>A	AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	14129	protein-coding gene	gene with protein product		604599	"""chromosome 6 open reading frame 30"", ""HLA-B associated transcript 8"""	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.2916+1G>T	6.37:g.31851582C>A						EHMT2-AS1_ENST00000434689.1_RNA|EHMT2_ENST00000375528.4_Splice_Site|EHMT2_ENST00000480912.1_Splice_Site|EHMT2_ENST00000375530.4_Splice_Site|EHMT2_ENST00000375537.4_Splice_Site				Q96KQ7	EHMT2_HUMAN			21	3087	-								B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Splice_Site	SNP	ENST00000375537.4	37		CCDS4725.1	.	.	.	.	.	.	.	.	.	.	C	18.38	3.611253	0.66558	.	.	ENSG00000204371	ENST00000395728;ENST00000375528;ENST00000375530;ENST00000375537;ENST00000442298	.	.	.	5.16	5.16	0.70880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5583	0.76216	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EHMT2	31959561	1.000000	0.71417	0.994000	0.49952	0.797000	0.45037	7.543000	0.82106	2.402000	0.81655	0.655000	0.94253	.		0.577	EHMT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076355.5	NM_006709	Intron	11	1092	1	0	0.00307968	1	0.00315075	11	1092				
LILRA6	79168	broad.mit.edu	37	19	54744217	54744217	+	Silent	SNP	G	G	A	rs78401423	byFrequency	TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr19:54744217G>A	ENST00000396365.2	-	6	1230	c.1191C>T	c.(1189-1191)taC>taT	p.Y397Y	LILRA6_ENST00000245621.5_Silent_p.Y397Y|LILRA6_ENST00000440558.2_Intron|LILRA6_ENST00000419410.2_Silent_p.Y397Y|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000391735.3_3'UTR	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	397	Ig-like C2-type 2.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGTATGAGCCGTAGCACCTGT	0.597													.|||	2	0.000399361	0.0	0.0014	5008	,	,		24490	0.001		0.0	False		,,,				2504	0.0					ENST00000419410.2																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38						c.(1189-1191)taC>taT		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6		G		1,4405		0,1,2202	79.0	111.0	100.0		1191	-0.7	0.1	19	dbSNP_131	100	0,8600		0,0,4300	no	coding-synonymous	LILRA6	NM_024318.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		397/482	54744217	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	79168							g.chr19:54744217G>A	AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15495	protein-coding gene	gene with protein product			"""leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"""	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.1191C>T	19.37:g.54744217G>A						LILRA6_ENST00000440558.2_Intron|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000245621.5_Silent_p.Y397Y|LILRA6_ENST00000396365.2_Silent_p.Y397Y|LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000270464.5_Intron	p.Y397Y						GBM - Glioblastoma multiforme(193;0.105)	6	1192	-	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)								Silent	SNP	ENST00000396365.2	37	c.1191C>T	CCDS42610.1																																																																																				0.597	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313725.1	NM_024318		7	1070	0	0	0	1	0	7	1070				
APEH	327	broad.mit.edu	37	3	49721622	49721622	+	IGR	SNP	C	C	T	rs200268600		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr3:49721622C>T	ENST00000296456.5	+	0	3220				MST1_ENST00000494828.2_5'Flank|MST1_ENST00000449682.2_Splice_Site_p.G673S|AC099668.5_ENST00000563780.1_RNA	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCGTAGTCACCCTGGCAGGTA	0.567																																						ENST00000449682.2																			0				NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41						c.e18-1		macrophage stimulating 1 (hepatocyte growth factor-like)							19.0	19.0	19.0					3																	49721622		2202	4294	6496	SO:0001628	intergenic_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49721622C>T	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"""acylaminoacyl-peptidase"""	102645	"""N-acylaminoacyl-peptide hydrolase"""	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49721622C>T							p.G673_splice	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	18	2378	-			659			Peptidase S1.		Q9BQ33|Q9P0Y2	Splice_Site	SNP	ENST00000296456.5	37	c.2016_splice	CCDS2801.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.4|26.4	4.733873|4.733873	0.89482|0.89482	.|.	.|.	ENSG00000173531|ENSG00000173531	ENST00000448220|ENST00000449682	.|D	.|0.97924	.|-4.61	5.59|5.59	5.59|5.59	0.84812|0.84812	.|.	0.000000|0.000000	0.43260|0.43260	D|D	0.000594|0.000594	D|D	0.98893|0.98893	0.9625|0.9625	M|M	0.86573|0.86573	2.825|2.825	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.77004	.|0.989	D|D	0.99593|0.99593	1.0976|1.0976	6|10	.|0.66056	.|D	.|0.02	.|.	19.5863|19.5863	0.95490|0.95490	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|673	.|G3XAK1	.|.	E|S	142|673	.|ENSP00000414287:G673S	.|ENSP00000414287:G673S	G|G	-|-	2|1	0|0	MST1|MST1	49696626|49696626	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	4.520000|4.520000	0.60524|0.60524	2.621000|2.621000	0.88768|0.88768	0.655000|0.655000	0.94253|0.94253	GGG|GGT		0.567	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			10	202	0	0	0	1	0	10	202				
TCF23	150921	broad.mit.edu	37	2	27373157	27373157	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr2:27373157G>A	ENST00000296096.5	+	2	519	c.389G>A	c.(388-390)cGc>cAc	p.R130H		NM_175769.2	NP_786951.1	Q7RTU1	TCF23_HUMAN	transcription factor 23	130					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)	nucleus (GO:0005634)				large_intestine(2)|lung(11)|prostate(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACCTCACCCGCACACTCGGC	0.652																																						ENST00000296096.5																			0				large_intestine(2)|lung(11)|prostate(1)	14						c.(388-390)cGc>cAc		transcription factor 23							103.0	111.0	108.0					2																	27373157		2203	4299	6502	SO:0001583	missense	150921				cell differentiation|muscle organ development|regulation of transcription, DNA-dependent	nucleus		g.chr2:27373157G>A	AC013403	CCDS33163.1	2p23.3	2013-05-21			ENSG00000163792	ENSG00000163792		"""Basic helix-loop-helix proteins"""	18602	protein-coding gene	gene with protein product		609635				11701948, 10652346	Standard	NM_175769		Approved	OUT, bHLHa24	uc010ylg.2	Q7RTU1	OTTHUMG00000152031	ENST00000296096.5:c.389G>A	2.37:g.27373157G>A	ENSP00000296096:p.Arg130His						p.R130H	NM_175769.2	NP_786951.1	Q7RTU1	TCF23_HUMAN			2	519	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		130			Helix-loop-helix motif.		B2RNZ3	Missense_Mutation	SNP	ENST00000296096.5	37	c.389G>A	CCDS33163.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.314556	0.81358	.	.	ENSG00000163792	ENST00000296096	D	0.88664	-2.41	5.66	4.68	0.58851	Helix-loop-helix DNA-binding (3);	0.207035	0.38959	N	0.001517	T	0.75265	0.3826	N	0.17800	0.525	0.27751	N	0.944151	B	0.33841	0.428	B	0.20577	0.03	T	0.68689	-0.5342	10	0.52906	T	0.07	-9.1222	5.2608	0.15571	0.2355:0.0:0.7645:0.0	.	130	Q7RTU1	TCF23_HUMAN	H	130	ENSP00000296096:R130H	ENSP00000296096:R130H	R	+	2	0	TCF23	27226661	0.149000	0.22717	0.996000	0.52242	0.968000	0.65278	0.691000	0.25467	2.680000	0.91292	0.561000	0.74099	CGC		0.652	TCF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324980.1	NM_175769		9	1147	0	0	0	1	0	9	1147				
MAPK8IP3	23162	broad.mit.edu	37	16	1812947	1812947	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr16:1812947G>A	ENST00000250894.4	+	16	1992	c.1835G>A	c.(1834-1836)cGc>cAc	p.R612H	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.R606H	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	612					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						AGCCAGCGCCGCAACCATGCC	0.652																																						ENST00000250894.4																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						c.(1834-1836)cGc>cAc		mitogen-activated protein kinase 8 interacting protein 3							58.0	71.0	67.0					16																	1812947		2009	4178	6187	SO:0001583	missense	23162				vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding	g.chr16:1812947G>A	AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"""homolog of Drosophila Sunday driver 2"""	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.1835G>A	16.37:g.1812947G>A	ENSP00000250894:p.Arg612His					MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.R606H	p.R612H	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN			16	1992	+			612					A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Missense_Mutation	SNP	ENST00000250894.4	37	c.1835G>A	CCDS10442.2	.	.	.	.	.	.	.	.	.	.	G	18.87	3.715755	0.68844	.	.	ENSG00000138834	ENST00000250894;ENST00000356010	T;T	0.34667	1.35;1.35	5.37	4.42	0.53409	.	0.107337	0.64402	D	0.000003	T	0.47154	0.1430	M	0.65498	2.005	0.80722	D	1	B;B;P	0.51147	0.081;0.045;0.942	B;B;P	0.49999	0.069;0.018;0.628	T	0.52555	-0.8560	10	0.72032	D	0.01	-25.222	13.7114	0.62670	0.0754:0.0:0.9246:0.0	.	613;606;612	B7ZMF3;E9PFH7;Q9UPT6	.;.;JIP3_HUMAN	H	612;606	ENSP00000250894:R612H;ENSP00000348290:R606H	ENSP00000250894:R612H	R	+	2	0	MAPK8IP3	1752948	1.000000	0.71417	0.986000	0.45419	0.970000	0.65996	9.310000	0.96267	1.267000	0.44247	0.561000	0.74099	CGC		0.652	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250508.2	NM_001040439		6	778	0	0	0	1	0	6	778				
HDLBP	3069	broad.mit.edu	37	2	242179464	242179464	+	Missense_Mutation	SNP	C	C	T	rs199968516		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr2:242179464C>T	ENST00000391975.1	-	18	2470	c.2243G>A	c.(2242-2244)gGc>gAc	p.G748D	HDLBP_ENST00000391976.2_Missense_Mutation_p.G748D|HDLBP_ENST00000310931.4_Missense_Mutation_p.G748D|HDLBP_ENST00000427183.2_Missense_Mutation_p.G715D	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	748	KH 9. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		GCGAATTTTGCCGCCCCCCTT	0.542																																						ENST00000391975.1																			0				breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(2242-2244)gGc>gAc		high density lipoprotein binding protein							170.0	158.0	162.0					2																	242179464		2203	4300	6503	SO:0001583	missense	3069				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding	g.chr2:242179464C>T		CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"""vigilin"""	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.2243G>A	2.37:g.242179464C>T	ENSP00000375836:p.Gly748Asp					HDLBP_ENST00000310931.4_Missense_Mutation_p.G748D|HDLBP_ENST00000391976.2_Missense_Mutation_p.G748D|HDLBP_ENST00000427183.2_Missense_Mutation_p.G715D	p.G748D	NM_203346.3	NP_976221.1	Q00341	VIGLN_HUMAN		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)	18	2470	-		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	748			KH 9.		B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Missense_Mutation	SNP	ENST00000391975.1	37	c.2243G>A	CCDS2547.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.3|25.3	4.627370|4.627370	0.87560|0.87560	.|.	.|.	ENSG00000115677|ENSG00000115677	ENST00000427487|ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183;ENST00000452931	.|T;T;T;T;T	.|0.28666	.|1.6;1.6;1.6;1.6;2.01	5.59|5.59	5.59|5.59	0.84812|0.84812	.|K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	.|0.049242	.|0.85682	.|D	.|0.000000	T|T	0.50922|0.50922	0.1644|0.1644	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	.|P;P	.|0.47034	.|0.889;0.624	.|P;P	.|0.57960	.|0.83;0.579	T|T	0.43376|0.43376	-0.9395|-0.9395	5|10	.|0.54805	.|T	.|0.06	-29.8584|-29.8584	19.6061|19.6061	0.95582|0.95582	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|715;748	.|E7EM71;Q00341	.|.;VIGLN_HUMAN	T|D	150|748;748;748;715;257	.|ENSP00000375836:G748D;ENSP00000375837:G748D;ENSP00000312042:G748D;ENSP00000399139:G715D;ENSP00000388876:G257D	.|ENSP00000312042:G748D	A|G	-|-	1|2	0|0	HDLBP|HDLBP	241828137|241828137	1.000000|1.000000	0.71417|0.71417	0.782000|0.782000	0.31804|0.31804	0.804000|0.804000	0.45430|0.45430	5.921000|5.921000	0.70028|0.70028	2.651000|2.651000	0.90000|0.90000	0.650000|0.650000	0.86243|0.86243	GCA|GGC		0.542	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	NM_203346		6	730	0	0	0	1	0	6	730				
EBNA1BP2	10969	broad.mit.edu	37	1	43636531	43636531	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr1:43636531C>T	ENST00000236051.2	-	4	484	c.343G>A	c.(343-345)Gca>Aca	p.A115T	EBNA1BP2_ENST00000472982.1_5'Flank|EBNA1BP2_ENST00000431635.2_Missense_Mutation_p.A170T|WDR65_ENST00000372492.4_5'Flank|WDR65_ENST00000528956.1_5'Flank	NM_006824.2	NP_006815.2	Q99848	EBP2_HUMAN	EBNA1 binding protein 2	115					ribosome biogenesis (GO:0042254)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)	16	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCAAGCACTGCGGCCTGGGCT	0.507																																						ENST00000431635.2																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(9)	16						c.(508-510)Gca>Aca		EBNA1 binding protein 2							150.0	146.0	148.0					1																	43636531		2203	4300	6503	SO:0001583	missense	10969				ribosome biogenesis	membrane fraction|nucleolus	protein binding	g.chr1:43636531C>T	U86602	CCDS478.1, CCDS53308.1	1p35-p33	2011-02-10	2001-11-28		ENSG00000117395	ENSG00000117395			15531	protein-coding gene	gene with protein product		614443	"""EBNA1-binding protein 2"""			10074103, 11438656	Standard	NM_001159936		Approved	NOBP, EBP2, P40	uc010ojx.2	Q99848	OTTHUMG00000007284	ENST00000236051.2:c.343G>A	1.37:g.43636531C>T	ENSP00000236051:p.Ala115Thr					EBNA1BP2_ENST00000236051.2_Missense_Mutation_p.A115T	p.A170T	NM_001159936.1	NP_001153408.1	Q99848	EBP2_HUMAN			5	656	-	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	115					Q96A66	Missense_Mutation	SNP	ENST00000236051.2	37	c.508G>A	CCDS478.1	.	.	.	.	.	.	.	.	.	.	C	14.34	2.505573	0.44558	.	.	ENSG00000117395	ENST00000431635;ENST00000236051	T;T	0.59502	0.26;0.26	5.2	3.34	0.38264	.	0.096406	0.64402	N	0.000001	T	0.58963	0.2159	M	0.81942	2.565	0.47698	D	0.99949	P;P	0.52577	0.954;0.954	P;P	0.44673	0.457;0.457	T	0.60707	-0.7210	10	0.54805	T	0.06	-1.6037	7.64	0.28288	0.133:0.7246:0.0:0.1424	.	115;115	Q6IB29;Q99848	.;EBP2_HUMAN	T	170;115	ENSP00000407323:A170T;ENSP00000236051:A115T	ENSP00000236051:A115T	A	-	1	0	EBNA1BP2	43409118	0.988000	0.35896	0.020000	0.16555	0.286000	0.27126	2.517000	0.45529	0.708000	0.31955	-0.145000	0.13849	GCA		0.507	EBNA1BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019015.1			5	685	0	0	0	1	0	5	685				
PPP2R2C	5522	broad.mit.edu	37	4	6473911	6473911	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr4:6473911G>A	ENST00000382599.4	-	1	262	c.46C>T	c.(46-48)Cgg>Tgg	p.R16W	PPP2R2C_ENST00000507294.1_Intron|PPP2R2C_ENST00000314348.8_Intron|PPP2R2C_ENST00000506140.1_Intron			Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	16					regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						CTGTGGTCCCGCAGGAAGCTG	0.642																																						ENST00000382599.4																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						c.(46-48)Cgg>Tgg		protein phosphatase 2, regulatory subunit B, gamma							173.0	156.0	162.0					4																	6473911		2203	4300	6503	SO:0001583	missense	5522				signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity	g.chr4:6473911G>A	AF086924	CCDS3388.1, CCDS56304.1, CCDS56305.1, CCDS3387.1	4p16.1	2013-01-10	2010-04-14		ENSG00000074211	ENSG00000074211	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9306	protein-coding gene	gene with protein product	"""PP2A subunit B isoform gamma"""	605997	"""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), gamma isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, gamma isoform"""			10574460, 10945473	Standard	NM_020416		Approved	PR52, IMYPNO, MGC33570, PR55G	uc003gja.3	Q9Y2T4	OTTHUMG00000090445	ENST00000382599.4:c.46C>T	4.37:g.6473911G>A	ENSP00000372042:p.Arg16Trp					PPP2R2C_ENST00000507294.1_Intron|PPP2R2C_ENST00000314348.8_Intron|PPP2R2C_ENST00000506140.1_Intron	p.R16W			Q9Y2T4	2ABG_HUMAN			1	262	-			16					A8MSY7|B7Z3Y1|Q7Z4V7|Q8NEC4|Q9H3G7	Missense_Mutation	SNP	ENST00000382599.4	37	c.46C>T		.	.	.	.	.	.	.	.	.	.	g	9.528	1.109960	0.20714	.	.	ENSG00000074211	ENST00000382599	T	0.32272	1.46	2.38	2.38	0.29361	WD40 repeat-like-containing domain (1);	14.402700	0.00754	U	0.001094	T	0.29749	0.0743	.	.	.	0.80722	D	1	B	0.30914	0.3	B	0.25759	0.063	T	0.11036	-1.0604	9	0.72032	D	0.01	.	11.6695	0.51393	0.0:0.0:1.0:0.0	.	16	Q9Y2T4	2ABG_HUMAN	W	16	ENSP00000372042:R16W	ENSP00000372042:R16W	R	-	1	2	PPP2R2C	6524812	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	6.519000	0.73768	0.885000	0.36088	0.152000	0.16155	CGG		0.642	PPP2R2C-001	NOVEL	overlapping_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206889.2	NM_181876		6	745	0	0	0	1	0	6	745				
KMT2C	58508	broad.mit.edu	37	7	151921103	151921103	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr7:151921103T>C	ENST00000262189.6	-	20	3538	c.3320A>G	c.(3319-3321)gAt>gGt	p.D1107G	KMT2C_ENST00000355193.2_Missense_Mutation_p.D1107G	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1107					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										ACAATACCTATCACATTGTCT	0.328																																						ENST00000355193.2																			0											c.(3319-3321)gAt>gGt		lysine (K)-specific methyltransferase 2C							47.0	43.0	44.0					7																	151921103		2203	4298	6501	SO:0001583	missense	58508							g.chr7:151921103T>C	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.3320A>G	7.37:g.151921103T>C	ENSP00000262189:p.Asp1107Gly					KMT2C_ENST00000262189.6_Missense_Mutation_p.D1107G	p.D1107G							20	3538	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.3320A>G	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	T	16.73	3.202827	0.58234	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	T;T	0.63913	-0.07;-0.07	5.39	5.39	0.77823	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.47852	D	0.000208	T	0.76905	0.4053	M	0.74647	2.275	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.87578	0.903;0.998	T	0.79403	-0.1818	10	0.72032	D	0.01	.	10.6261	0.45508	0.1432:0.0:0.0:0.8568	.	1107;168	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	G	1107	ENSP00000262189:D1107G;ENSP00000347325:D1107G	ENSP00000262189:D1107G	D	-	2	0	MLL3	151552036	1.000000	0.71417	0.997000	0.53966	0.967000	0.64934	6.146000	0.71777	2.045000	0.60652	0.528000	0.53228	GAT		0.328	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			74	194	0	0	0	1	0	74	194				
KCNS2	3788	broad.mit.edu	37	8	99440425	99440425	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr8:99440425G>A	ENST00000287042.4	+	2	568	c.218G>A	c.(217-219)cGc>cAc	p.R73H	KCNS2_ENST00000521839.1_Missense_Mutation_p.R73H	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	73					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.R73H(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			TACTTCGACCGCAACCCTGAG	0.597																																					Pancreas(138;844 2489 9202 24627)	ENST00000287042.4																			1	Substitution - Missense(1)	p.R73H(1)	lung(1)	autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31						c.(217-219)cGc>cAc		potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2							131.0	101.0	111.0					8																	99440425		2203	4300	6503	SO:0001583	missense	3788					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:99440425G>A	AB032970	CCDS6279.1	8q22	2011-07-05			ENSG00000156486	ENSG00000156486		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6301	protein-coding gene	gene with protein product		602906				9305895, 16382104	Standard	NM_020697		Approved	Kv9.2	uc003yin.3	Q9ULS6	OTTHUMG00000044337	ENST00000287042.4:c.218G>A	8.37:g.99440425G>A	ENSP00000287042:p.Arg73His					KCNS2_ENST00000521839.1_Missense_Mutation_p.R73H	p.R73H	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0448)		2	568	+	Breast(36;2.4e-06)		73					A8KAN1	Missense_Mutation	SNP	ENST00000287042.4	37	c.218G>A	CCDS6279.1	.	.	.	.	.	.	.	.	.	.	g	26.0	4.699534	0.88830	.	.	ENSG00000156486	ENST00000287042;ENST00000521839	D;D	0.90261	-2.64;-2.64	5.4	5.4	0.78164	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	D	0.97123	0.9060	H	0.96430	3.82	0.53005	D	0.999963	D	0.89917	1.0	D	0.87578	0.998	D	0.98218	1.0476	10	0.87932	D	0	.	19.1824	0.93629	0.0:0.0:1.0:0.0	.	73	Q9ULS6	KCNS2_HUMAN	H	73	ENSP00000287042:R73H;ENSP00000430712:R73H	ENSP00000287042:R73H	R	+	2	0	KCNS2	99509601	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.866000	0.99616	2.523000	0.85059	0.558000	0.71614	CGC		0.597	KCNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103134.1	NM_020697		6	587	0	0	0	1	0	6	587				
FAM96B	51647	broad.mit.edu	37	16	66969542	66969542	+	5'Flank	SNP	C	C	T	rs151081443		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr16:66969542C>T	ENST00000422424.2	-	0	0				CES2_ENST00000317091.4_Missense_Mutation_p.R66W|CES2_ENST00000417689.1_Missense_Mutation_p.R66W	NM_016062.3	NP_057146.1	Q9Y3D0	MIP18_HUMAN	family with sequence similarity 96, member B						chromosome segregation (GO:0007059)|small molecule metabolic process (GO:0044281)	CIA complex (GO:0097361)|cytoplasm (GO:0005737)|MMXD complex (GO:0071817)|nucleus (GO:0005634)|spindle (GO:0005819)				kidney(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		GCCGACCATGCGGCTGCACAG	0.697																																						ENST00000317091.4																			0				breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12						c.(196-198)Cgg>Tgg		carboxylesterase 2							58.0	67.0	64.0					16																	66969542		2200	4299	6499	SO:0001631	upstream_gene_variant	8824				catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:66969542C>T		CCDS45506.1	16q22.1	2014-01-16			ENSG00000166595	ENSG00000166595			24261	protein-coding gene	gene with protein product		614778				11042152, 10810093, 23891004	Standard	NM_016062		Approved	CGI-128	uc021tjy.2	Q9Y3D0	OTTHUMG00000175408		16.37:g.66969542C>T	Exception_encountered					CES2_ENST00000417689.1_Missense_Mutation_p.R66W	p.R66W	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)	1	1180	+		Ovarian(137;0.0563)	2						Missense_Mutation	SNP	ENST00000422424.2	37	c.196C>T	CCDS45506.1	.	.	.	.	.	.	.	.	.	.	C	18.90	3.721415	0.68959	.	.	ENSG00000172831	ENST00000417689;ENST00000317091	T;T	0.68025	-0.3;-0.3	4.36	-6.52	0.01872	.	.	.	.	.	T	0.44329	0.1288	N	0.08118	0	0.09310	N	0.999997	D;D	0.65815	0.995;0.995	P;P	0.51657	0.676;0.676	T	0.41360	-0.9513	9	0.56958	D	0.05	.	0.4286	0.00467	0.3124:0.2919:0.1368:0.2589	.	2;66	O00748;A8K367	EST2_HUMAN;.	W	66	ENSP00000394452:R66W;ENSP00000317842:R66W	ENSP00000317842:R66W	R	+	1	2	CES2	65527043	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-3.252000	0.00539	-1.317000	0.02292	-0.140000	0.14226	CGG		0.697	FAM96B-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429890.1	NM_016062		8	893	0	0	0	1	0	8	893				
SLC2A2	6514	broad.mit.edu	37	3	170723136	170723136	+	Nonsense_Mutation	SNP	G	G	A	rs121909743		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr3:170723136G>A	ENST00000314251.3	-	7	980	c.901C>T	c.(901-903)Cga>Tga	p.R301*	SLC2A2_ENST00000382808.4_Nonsense_Mutation_p.R182*	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 2	301					carbohydrate metabolic process (GO:0005975)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|glucose transport (GO:0015758)|hexose transmembrane transport (GO:0035428)|hexose transport (GO:0008645)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	brush border (GO:0005903)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	D-glucose transmembrane transporter activity (GO:0055056)|dehydroascorbic acid transporter activity (GO:0033300)|glucose transmembrane transporter activity (GO:0005355)|hexose transmembrane transporter activity (GO:0015149)	p.R301*(1)		central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)		Streptozocin(DB00428)	ATAGGCTGTCGGTAGCTGGAA	0.418																																						ENST00000314251.3																			1	Substitution - Nonsense(1)	p.R301*(1)	large_intestine(1)	central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	GRCh37	CM971382	SLC2A2	M	rs121909743	c.(901-903)Cga>Tga		solute carrier family 2 (facilitated glucose transporter), member 2							201.0	182.0	189.0					3																	170723136		2203	4300	6503	SO:0001587	stop_gained	6514				carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity	g.chr3:170723136G>A	J03810	CCDS3215.1	3q26.2-q27	2013-05-22			ENSG00000163581	ENSG00000163581		"""Solute carriers"""	11006	protein-coding gene	gene with protein product		138160		GLUT2		1852621	Standard	NM_000340		Approved		uc003fhe.1	P11168	OTTHUMG00000158997	ENST00000314251.3:c.901C>T	3.37:g.170723136G>A	ENSP00000323568:p.Arg301*					SLC2A2_ENST00000382808.4_Nonsense_Mutation_p.R182*	p.R301*	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)		7	980	-	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		301					A8K481|B2R936|B7Z547|F8W8V8|Q9UCW9	Nonsense_Mutation	SNP	ENST00000314251.3	37	c.901C>T	CCDS3215.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.930078	0.52759	.	.	ENSG00000163581	ENST00000314251;ENST00000382808	.	.	.	5.53	2.71	0.32032	.	0.053497	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.9913	0.41872	0.0638:0.0:0.5056:0.4306	.	.	.	.	X	301;182	.	ENSP00000323568:R301X	R	-	1	2	SLC2A2	172205830	1.000000	0.71417	0.209000	0.23619	0.110000	0.19582	1.608000	0.36847	0.357000	0.24183	0.591000	0.81541	CGA		0.418	SLC2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352834.1	NM_000340		10	441	0	0	0	1	0	10	441				
ZFHX3	463	broad.mit.edu	37	16	72821425	72821425	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr16:72821425C>T	ENST00000268489.5	-	10	11422	c.10750G>A	c.(10750-10752)Gca>Aca	p.A3584T	AC004943.1_ENST00000584072.1_RNA|RP5-991G20.1_ENST00000563328.2_RNA|RP5-991G20.4_ENST00000569195.1_RNA|ZFHX3_ENST00000397992.5_Missense_Mutation_p.A2670T	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3584					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GAGGTAGATGCGGTGCTAGGA	0.612																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(10750-10752)Gca>Aca		zinc finger homeobox 3							290.0	224.0	246.0					16																	72821425		2198	4300	6498	SO:0001583	missense	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72821425C>T	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.10750G>A	16.37:g.72821425C>T	ENSP00000268489:p.Ala3584Thr					ZFHX3_ENST00000397992.5_Missense_Mutation_p.A2670T	p.A3584T	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			10	11422	-		Ovarian(137;0.13)	3584					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.10750G>A	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	C	14.01	2.406520	0.42715	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.30448	1.53;1.53	3.95	3.95	0.45737	.	0.000000	0.49916	D	0.000136	T	0.12518	0.0304	N	0.05441	-0.05	0.80722	D	1	B	0.32507	0.373	B	0.16289	0.015	T	0.13575	-1.0504	10	0.02654	T	1	.	16.3601	0.83259	0.0:1.0:0.0:0.0	.	3584	Q15911	ZFHX3_HUMAN	T	3584;2670	ENSP00000268489:A3584T;ENSP00000438926:A2670T	ENSP00000268489:A3584T	A	-	1	0	ZFHX3	71378926	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.471000	0.35365	1.914000	0.55421	0.557000	0.71058	GCA		0.612	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		9	733	0	0	0	1	0	9	733				
KRTAP10-6	386674	broad.mit.edu	37	21	46011400	46011400	+	Silent	SNP	G	G	A	rs371252868		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr21:46011400G>A	ENST00000400368.1	-	1	986	c.966C>T	c.(964-966)tcC>tcT	p.S322S	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	322	29 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.S322S(5)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						AGGCACCACAGGAGGGGACGG	0.692																																						ENST00000400368.1																			5	Substitution - coding silent(5)	p.S322S(5)	endometrium(3)|urinary_tract(1)|prostate(1)	endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						c.(964-966)tcC>tcT		keratin associated protein 10-6							66.0	81.0	76.0					21																	46011400		2201	4300	6501	SO:0001819	synonymous_variant	386674					keratin filament		g.chr21:46011400G>A	AB076353	CCDS42959.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000188155	ENSG00000188155		"""Keratin associated proteins"""	20523	protein-coding gene	gene with protein product			"""keratin associated protein 18-6"""	KRTAP18-6			Standard	NM_198688		Approved	KRTAP18.6, KAP18.6, KAP10.6	uc002zfm.3	P60371	OTTHUMG00000057634	ENST00000400368.1:c.966C>T	21.37:g.46011400G>A						TSPEAR_ENST00000323084.4_Intron	p.S322S	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN			1	986	-			322			29 X 5 AA repeats of C-C-X(3).			Silent	SNP	ENST00000400368.1	37	c.966C>T	CCDS42959.1																																																																																				0.692	KRTAP10-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128037.1	NM_198688		5	600	0	0	0	1	0	5	600				
OR4K17	390436	broad.mit.edu	37	14	20585888	20585888	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr14:20585888C>T	ENST00000315543.4	+	1	323	c.323C>T	c.(322-324)gCc>gTc	p.A108V		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	80						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A108V(1)		kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		GCTTCTTTTGCCACCCCTAAG	0.398																																						ENST00000315543.4																			1	Substitution - Missense(1)	p.A108V(1)	kidney(1)	kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21						c.(322-324)gCc>gTc		olfactory receptor, family 4, subfamily K, member 17							161.0	168.0	166.0					14																	20585888		2203	4300	6503	SO:0001583	missense	390436				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20585888C>T		CCDS32030.1	14q11.2	2013-09-23			ENSG00000176230	ENSG00000176230		"""GPCR / Class A : Olfactory receptors"""	15355	protein-coding gene	gene with protein product							Standard	NM_001004715		Approved		uc001vwo.1	Q8NGC6	OTTHUMG00000170783	ENST00000315543.4:c.323C>T	14.37:g.20585888C>T	ENSP00000319197:p.Ala108Val						p.A108V	NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)	1	323	+	all_cancers(95;0.00108)		80					Q6IF12	Missense_Mutation	SNP	ENST00000315543.4	37	c.323C>T	CCDS32030.1	.	.	.	.	.	.	.	.	.	.	.	9.977	1.226987	0.22542	.	.	ENSG00000176230	ENST00000315543	T	0.00597	6.31	2.86	1.95	0.26073	GPCR, rhodopsin-like superfamily (1);	0.246509	0.20479	U	0.091527	T	0.00384	0.0012	N	0.04260	-0.245	0.24184	N	0.995571	B	0.06786	0.001	B	0.10450	0.005	T	0.47315	-0.9127	10	0.49607	T	0.09	.	8.9177	0.35592	0.0:0.8792:0.0:0.1208	.	80	Q8NGC6	OR4KH_HUMAN	V	108	ENSP00000319197:A108V	ENSP00000319197:A108V	A	+	2	0	OR4K17	19655728	0.000000	0.05858	0.997000	0.53966	0.547000	0.35210	0.338000	0.19858	0.509000	0.28195	0.404000	0.27445	GCC		0.398	OR4K17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410346.1			7	1215	0	0	0	1	0	7	1215				
BMS1P20	96610	broad.mit.edu	37	22	22661328	22661328	+	RNA	SNP	G	G	A	rs1044439		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr22:22661328G>A	ENST00000426066.1	+	0	360					NR_027293.1				BMS1 pseudogene 20																		TTTGACCCCCGTTACCCCATT	0.507																																						ENST00000426066.1																			0																																																			0							g.chr22:22661328G>A			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22661328G>A								NR_027293.1						0	360	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.507	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			5	242	0	0	0	1	0	5	242				
TENM3	55714	broad.mit.edu	37	4	183714508	183714508	+	Missense_Mutation	SNP	G	G	A	rs201200379	byFrequency	TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr4:183714508G>A	ENST00000511685.1	+	26	6806	c.6683G>A	c.(6682-6684)cGt>cAt	p.R2228H	TENM3_ENST00000406950.2_Missense_Mutation_p.R2228H			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	2228					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.R2228H(1)									GTGATCTACCGTTATGACGGC	0.463													G|||	2	0.000399361	0.0008	0.0	5008	,	,		18725	0.0		0.001	False		,,,				2504	0.0					ENST00000511685.1																			1	Substitution - Missense(1)	p.R2228H(1)	large_intestine(1)								c.(6682-6684)cGt>cAt		teneurin transmembrane protein 3							78.0	80.0	79.0					4																	183714508		1898	4121	6019	SO:0001583	missense	55714							g.chr4:183714508G>A	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.6683G>A	4.37:g.183714508G>A	ENSP00000424226:p.Arg2228His					TENM3_ENST00000406950.2_Missense_Mutation_p.R2228H	p.R2228H							26	6806	+								Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.6683G>A	CCDS47165.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	10.04	1.242130	0.22796	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.86694	-2.16;-2.16	4.65	4.65	0.58169	.	.	.	.	.	D	0.93223	0.7841	M	0.84511	2.7	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	D	0.91401	0.5143	9	0.15952	T	0.53	.	17.7429	0.88412	0.0:0.0:1.0:0.0	.	2228	Q9P273	TEN3_HUMAN	H	2228	ENSP00000424226:R2228H;ENSP00000385276:R2228H	ENSP00000385276:R2228H	R	+	2	0	ODZ3	183951502	1.000000	0.71417	0.900000	0.35374	0.648000	0.38561	7.767000	0.85331	2.417000	0.82017	0.563000	0.77884	CGT		0.463	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			70	244	0	0	0	1	0	70	244				
TOMM40L	84134	broad.mit.edu	37	1	161198845	161198845	+	Missense_Mutation	SNP	G	G	A	rs368124911		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr1:161198845G>A	ENST00000367988.3	+	10	1156	c.887G>A	c.(886-888)cGc>cAc	p.R296H	TOMM40L_ENST00000545897.1_Missense_Mutation_p.R262H|TOMM40L_ENST00000367987.1_Missense_Mutation_p.R296H|NR1I3_ENST00000479324.1_5'Flank|MIR5187_ENST00000583479.1_RNA|TOMM40L_ENST00000474486.1_3'UTR	NM_032174.4	NP_115550.2	Q969M1	TM40L_HUMAN	translocase of outer mitochondrial membrane 40 homolog (yeast)-like	296	Required for mitochondrial targeting. {ECO:0000250}.				ion transport (GO:0006811)|protein transport (GO:0015031)	mitochondrial outer membrane (GO:0005741)|pore complex (GO:0046930)|protein complex (GO:0043234)	porin activity (GO:0015288)			large_intestine(2)|liver(4)|lung(4)	10	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			AATCACTGGCGCAACAGATTC	0.582																																						ENST00000367988.3																			0				large_intestine(2)|liver(4)|lung(4)	10						c.(886-888)cGc>cAc		translocase of outer mitochondrial membrane 40 homolog (yeast)-like		G	HIS/ARG	0,4406		0,0,2203	140.0	122.0	128.0		887	5.2	1.0	1		128	1,8599	1.2+/-3.3	0,1,4299	no	missense	TOMM40L	NM_032174.4	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	296/309	161198845	1,13005	2203	4300	6503	SO:0001583	missense	84134				protein transport	mitochondrial outer membrane|pore complex	porin activity|voltage-gated anion channel activity	g.chr1:161198845G>A		CCDS1227.1, CCDS65700.1	1q23.3	2008-02-05	2007-01-12		ENSG00000158882	ENSG00000158882			25756	protein-coding gene	gene with protein product			"""translocase of outer mitochondrial membrane 40 homolog-like (yeast)"""				Standard	NM_032174		Approved	FLJ12770, TOMM40B	uc001fzd.3	Q969M1	OTTHUMG00000034345	ENST00000367988.3:c.887G>A	1.37:g.161198845G>A	ENSP00000356967:p.Arg296His					TOMM40L_ENST00000367987.1_Missense_Mutation_p.R296H|TOMM40L_ENST00000545897.1_Missense_Mutation_p.R262H|TOMM40L_ENST00000474486.1_3'UTR	p.R296H	NM_032174.4	NP_115550.2	Q969M1	TM40L_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		10	1156	+	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		296			Required for mitochondrial targeting (By similarity).		B7Z4U0|D3DVG9	Missense_Mutation	SNP	ENST00000367988.3	37	c.887G>A	CCDS1227.1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.382008	0.61845	0.0	1.16E-4	ENSG00000158882	ENST00000367988;ENST00000545897;ENST00000542686;ENST00000367987	T;T;T	0.42900	0.96;0.96;0.96	5.25	5.25	0.73442	.	0.301075	0.30920	N	0.008603	T	0.24470	0.0593	N	0.14661	0.345	0.32193	N	0.5787640000000001	D;D;D	0.54207	0.965;0.965;0.965	P;B;P	0.52881	0.712;0.285;0.712	T	0.12192	-1.0557	9	0.56958	D	0.05	-18.8218	9.9862	0.41843	0.0898:0.0:0.9102:0.0	.	262;178;296	B7Z4U0;Q9H9G4;Q969M1	.;.;TM40L_HUMAN	H	296;262;198;296	ENSP00000356967:R296H;ENSP00000443233:R262H;ENSP00000356966:R296H	ENSP00000356966:R296H	R	+	2	0	TOMM40L	159465469	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.874000	0.48483	2.885000	0.99019	0.655000	0.94253	CGC		0.582	TOMM40L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083029.1	NM_032174		6	616	0	0	0	1	0	6	616				
AGAP6	414189	broad.mit.edu	37	10	51754173	51754173	+	Missense_Mutation	SNP	G	G	T	rs569602183	byFrequency	TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr10:51754173G>T	ENST00000374056.4	+	3	709	c.311G>T	c.(310-312)aGc>aTc	p.S104I	AGAP6_ENST00000412531.3_Missense_Mutation_p.S127I			Q5VW22	AGAP6_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	104					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.S127I(2)		NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						ATAAGAAGAAGCAACTGTACA	0.269																																						ENST00000374056.4																			2	Substitution - Missense(2)	p.S127I(2)	prostate(1)|kidney(1)	NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						c.(310-312)aGc>aTc		ArfGAP with GTPase domain, ankyrin repeat and PH domain 6							47.0	39.0	41.0					10																	51754173		692	1583	2275	SO:0001583	missense	414189				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:51754173G>T		CCDS44397.1	10q11.23	2013-01-10	2008-09-22	2008-09-22	ENSG00000204149	ENSG00000204149		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23466	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 3"""	CTGLF3			Standard	NM_001077665		Approved	bA324H6.1	uc001jix.4	Q5VW22	OTTHUMG00000018220	ENST00000374056.4:c.311G>T	10.37:g.51754173G>T	ENSP00000363168:p.Ser104Ile					AGAP6_ENST00000412531.3_Missense_Mutation_p.S127I	p.S104I			C9IYN2	C9IYN2_HUMAN			3	709	+			127						Missense_Mutation	SNP	ENST00000374056.4	37	c.311G>T		.	.	.	.	.	.	.	.	.	.	G	3.288	-0.145481	0.06627	.	.	ENSG00000204149	ENST00000374056;ENST00000412531	D	0.88124	-2.34	1.7	0.742	0.18341	.	0.278236	0.34555	N	0.003870	D	0.82788	0.5113	M	0.75615	2.305	0.21020	N	0.99981	B	0.26935	0.164	B	0.19946	0.027	T	0.74839	-0.3528	10	0.72032	D	0.01	.	6.1199	0.20148	0.1849:0.0:0.8151:0.0	.	127	C9IYN2	.	I	127;104	ENSP00000400972:S104I	ENSP00000363168:S127I	S	+	2	0	AGAP6	51424179	1.000000	0.71417	0.936000	0.37596	0.258000	0.26162	1.038000	0.30254	0.263000	0.21812	0.184000	0.17185	AGC		0.269	AGAP6-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001077665		9	269	1	0	0.00448238	1	0.00456825	9	269				
BCRP7	100133163	broad.mit.edu	37	22	18846098	18846098	+	3'UTR	SNP	G	G	A	rs9306211	byFrequency	TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr22:18846098G>A	ENST00000412938.1	+	0	3456																											ATGCCTCGGCGCTCGATCTCC	0.622																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18846098G>A																												ENST00000412938.1:c.*3453G>A	22.37:g.18846098G>A														0	3456	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.622	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			7	174	0	0	0	1	0	7	174				
NCOA6	23054	broad.mit.edu	37	20	33345756	33345756	+	Silent	SNP	T	T	C			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr20:33345756T>C	ENST00000374796.2	-	8	3365	c.795A>G	c.(793-795)caA>caG	p.Q265Q	NCOA6_ENST00000359003.2_Silent_p.Q265Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	265	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-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)	p.Q265Q(1)		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						gttgttgttgttgctgctgct	0.537																																						ENST00000374796.2																			1	Substitution - coding silent(1)	p.Q265Q(1)	central_nervous_system(1)	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.(793-795)caA>caG		nuclear receptor coactivator 6							62.0	52.0	55.0					20																	33345756		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.chr20:33345756T>C	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.795A>G	20.37:g.33345756T>C						NCOA6_ENST00000359003.2_Silent_p.Q265Q	p.Q265Q			Q14686	NCOA6_HUMAN			8	3365	-			265			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.795A>G	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		6	341	0	0	0	1	0	6	341				
SUSD1	64420	broad.mit.edu	37	9	114911537	114911537	+	Silent	SNP	G	G	T			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr9:114911537G>T	ENST00000374270.3	-	3	532	c.360C>A	c.(358-360)ggC>ggA	p.G120G	SUSD1_ENST00000374263.3_Silent_p.G120G|SUSD1_ENST00000374264.2_Silent_p.G120G	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	120						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						TACAAAAGGTGCCATCGTTGG	0.468																																						ENST00000374270.3																		SUSD1/ROD1(2)	0				central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						c.(358-360)ggC>ggA		sushi domain containing 1							306.0	286.0	293.0					9																	114911537		2203	4300	6503	SO:0001819	synonymous_variant	64420					integral to membrane	calcium ion binding	g.chr9:114911537G>T	AL137432	CCDS6783.1, CCDS65105.1, CCDS65106.1	9q31.3-q33.1	2008-02-05			ENSG00000106868	ENSG00000106868			25413	protein-coding gene	gene with protein product						12975309	Standard	NM_022486		Approved	DKFZP761E1824	uc004bfu.3	Q6UWL2	OTTHUMG00000020499	ENST00000374270.3:c.360C>A	9.37:g.114911537G>T						SUSD1_ENST00000374264.2_Silent_p.G120G|SUSD1_ENST00000374263.3_Silent_p.G120G	p.G120G	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN			3	532	-			120					A1A4C5|A8KA03|Q5T8V6|Q5T8V7|Q6P9G7|Q8WU83|Q96DM9|Q9H6V2|Q9NTA7	Silent	SNP	ENST00000374270.3	37	c.360C>A	CCDS6783.1	.	.	.	.	.	.	.	.	.	.	G	9.466	1.094271	0.20471	.	.	ENSG00000106868	ENST00000355396	.	.	.	5.23	4.34	0.51931	.	.	.	.	.	T	0.63873	0.2548	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62296	-0.6884	4	.	.	.	-25.4964	12.7168	0.57119	0.0814:0.0:0.9186:0.0	.	.	.	.	N	104	.	.	H	-	1	0	SUSD1	113951358	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.281000	0.43452	1.205000	0.43262	0.655000	0.94253	CAC		0.468	SUSD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053668.3	NM_022486		399	834	1	0	3.56204e-131	1	3.88321e-131	399	834				
ADCY9	115	broad.mit.edu	37	16	4016765	4016765	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr16:4016765G>A	ENST00000294016.3	-	11	3611	c.3073C>T	c.(3073-3075)Cgg>Tgg	p.R1025W		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	1025					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GCCTGGTCCCGCATGCTCTGG	0.577																																						ENST00000294016.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(3073-3075)Cgg>Tgg		adenylate cyclase 9							151.0	131.0	138.0					16																	4016765		2197	4300	6497	SO:0001583	missense	115				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:4016765G>A	AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"""Adenylate cyclases"""	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.3073C>T	16.37:g.4016765G>A	ENSP00000294016:p.Arg1025Trp						p.R1025W	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN			11	3611	-			1025					A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	ENST00000294016.3	37	c.3073C>T	CCDS32382.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.090001	0.55968	.	.	ENSG00000162104	ENST00000294016	D	0.84873	-1.91	5.52	0.205	0.15204	Adenylyl cyclase class-3/4/guanylyl cyclase (1);	0.000000	0.85682	D	0.000000	D	0.90359	0.6983	L	0.58101	1.795	0.49483	D	0.999795	D	0.89917	1.0	D	0.91635	0.999	D	0.90009	0.4120	10	0.87932	D	0	.	18.4251	0.90606	0.0:0.0:0.7116:0.2884	.	1025	O60503	ADCY9_HUMAN	W	1025	ENSP00000294016:R1025W	ENSP00000294016:R1025W	R	-	1	2	ADCY9	3956766	1.000000	0.71417	0.997000	0.53966	0.952000	0.60782	0.692000	0.25482	-0.162000	0.10964	-0.467000	0.05162	CGG		0.577	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			6	871	0	0	0	1	0	6	871				
TAF5L	27097	broad.mit.edu	37	1	229750171	229750171	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr1:229750171C>T	ENST00000366676.1	-	1	58	c.59G>A	c.(58-60)cGg>cAg	p.R20Q	TAF5L_ENST00000258281.2_Missense_Mutation_p.R20Q|TAF5L_ENST00000366674.1_Missense_Mutation_p.R20Q|TAF5L_ENST00000366675.3_Missense_Mutation_p.R20Q|TAF5L_ENST00000477957.1_5'UTR			O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	20					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				CACGTACTGCCGGCGTTTGAG	0.562																																						ENST00000366675.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11						c.(58-60)cGg>cAg		TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa							110.0	94.0	100.0					1																	229750171		2203	4300	6503	SO:0001583	missense	27097				histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:229750171C>T	AF069736	CCDS1581.1, CCDS31051.1	1q42.11-q42.3	2013-01-10	2002-08-29		ENSG00000135801	ENSG00000135801		"""WD repeat domain containing"""	17304	protein-coding gene	gene with protein product	"""PCAF associated factor 65 beta"""		"""TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"""			9674425, 11124703	Standard	XM_005273100		Approved	PAF65B	uc001htq.3	O75529	OTTHUMG00000039463	ENST00000366676.1:c.59G>A	1.37:g.229750171C>T	ENSP00000355636:p.Arg20Gln					TAF5L_ENST00000258281.2_Missense_Mutation_p.R20Q|TAF5L_ENST00000366676.1_Missense_Mutation_p.R20Q|TAF5L_ENST00000477957.1_5'UTR|TAF5L_ENST00000366674.1_Missense_Mutation_p.R20Q	p.R20Q	NM_001025247.1	NP_001020418.1	O75529	TAF5L_HUMAN			2	147	-	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)	20					Q5TDI5|Q5TDI6|Q8IW31	Missense_Mutation	SNP	ENST00000366676.1	37	c.59G>A	CCDS1581.1	.	.	.	.	.	.	.	.	.	.	C	36	5.878785	0.97055	.	.	ENSG00000135801	ENST00000366676;ENST00000258281;ENST00000366675;ENST00000366674	T;T;T	0.66460	-0.21;-0.21;0.21	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.79678	0.4487	M	0.68952	2.095	0.80722	D	1	D;D	0.76494	0.994;0.999	P;P	0.61275	0.572;0.886	T	0.77776	-0.2461	9	.	.	.	-20.2862	20.0015	0.97412	0.0:1.0:0.0:0.0	.	20;20	O75529-2;O75529	.;TAF5L_HUMAN	Q	20	ENSP00000355636:R20Q;ENSP00000258281:R20Q;ENSP00000355635:R20Q	.	R	-	2	0	TAF5L	227816794	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	5.752000	0.68728	2.732000	0.93576	0.563000	0.77884	CGG		0.562	TAF5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095229.1	NM_014409		81	317	0	0	0	1	0	81	317				
KIAA0226L	80183	broad.mit.edu	37	13	46946147	46946147	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr13:46946147G>A	ENST00000429979.1	-	3	1068	c.464C>T	c.(463-465)gCc>gTc	p.A155V	KIAA0226L_ENST00000378784.4_Missense_Mutation_p.A88V|KIAA0226L_ENST00000534925.1_Missense_Mutation_p.A20V|KIAA0226L_ENST00000378781.3_Missense_Mutation_p.A155V|KIAA0226L_ENST00000322896.6_Intron|KIAA0226L_ENST00000378797.2_Missense_Mutation_p.A155V|KIAA0226L_ENST00000409879.2_Intron|KIAA0226L_ENST00000389908.3_Missense_Mutation_p.A155V|RNU2-6P_ENST00000411404.1_RNA|KIAA0226L_ENST00000378787.3_Missense_Mutation_p.A155V|KIAA0226L_ENST00000480935.1_5'Flank	NM_025113.2	NP_079389.2	Q9H714	K226L_HUMAN	KIAA0226-like	155										NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						TGGGGAGGTGGCCAAAATCCC	0.507																																						ENST00000429979.1																			0				NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						c.(463-465)gCc>gTc		KIAA0226-like							71.0	69.0	70.0					13																	46946147		2203	4300	6503	SO:0001583	missense	80183							g.chr13:46946147G>A	AK025215	CCDS31970.2, CCDS66543.1, CCDS66544.1, CCDS66545.1, CCDS73569.1	13q14.11	2011-08-09	2011-08-09	2011-08-09	ENSG00000102445	ENSG00000102445			20420	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 18"""	C13orf18			Standard	NM_001286766		Approved	FLJ21562	uc010acl.3	Q9H714	OTTHUMG00000016868	ENST00000429979.1:c.464C>T	13.37:g.46946147G>A	ENSP00000396935:p.Ala155Val					KIAA0226L_ENST00000378797.2_Missense_Mutation_p.A155V|KIAA0226L_ENST00000389908.3_Missense_Mutation_p.A155V|KIAA0226L_ENST00000378784.4_Missense_Mutation_p.A88V|KIAA0226L_ENST00000409879.2_Intron|KIAA0226L_ENST00000322896.6_Intron|KIAA0226L_ENST00000378781.3_Missense_Mutation_p.A155V|KIAA0226L_ENST00000534925.1_Missense_Mutation_p.A20V|KIAA0226L_ENST00000378787.3_Missense_Mutation_p.A155V	p.A155V	NM_025113.2	NP_079389.2	Q9H714	CM018_HUMAN			3	1068	-			155					A8KAG9|A8XR19|B3KS87|Q5W051|Q5W053|Q6PJ74|Q6PK94|Q86XH7|Q8N5J6	Missense_Mutation	SNP	ENST00000429979.1	37	c.464C>T	CCDS31970.2	.	.	.	.	.	.	.	.	.	.	G	10.02	1.235398	0.22626	.	.	ENSG00000102445	ENST00000378781;ENST00000429979;ENST00000378797;ENST00000378784;ENST00000389908;ENST00000378787;ENST00000534925;ENST00000417405;ENST00000439642	T;T;T;T;T;T;T;T;T	0.58506	0.38;0.54;0.48;0.55;0.54;0.48;0.63;0.44;0.33	5.83	1.91	0.25777	.	0.973510	0.08458	N	0.942813	T	0.36580	0.0972	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.17852	0.024;0.013;0.003;0.006;0.013	B;B;B;B;B	0.22601	0.04;0.022;0.003;0.008;0.022	T	0.31806	-0.9930	10	0.59425	D	0.04	-1.9327	5.9517	0.19250	0.0743:0.2475:0.5512:0.1271	.	155;155;155;88;155	E7EMA2;Q9H714-1;Q9H714;Q9H714-3;Q9H714-4	.;.;K226L_HUMAN;.;.	V	155;155;155;88;155;155;20;20;155	ENSP00000368057:A155V;ENSP00000396935:A155V;ENSP00000368074:A155V;ENSP00000368061:A88V;ENSP00000374558:A155V;ENSP00000368064:A155V;ENSP00000437501:A20V;ENSP00000402357:A20V;ENSP00000414579:A155V	ENSP00000368057:A155V	A	-	2	0	KIAA0226L	45844148	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.370000	0.20433	0.105000	0.17753	-1.854000	0.00565	GCC		0.507	KIAA0226L-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044809.2	NM_025113		4	231	0	0	0	1	0	4	231				
ASPM	259266	broad.mit.edu	37	1	197072532	197072532	+	Missense_Mutation	SNP	G	G	A	rs368693433		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr1:197072532G>A	ENST00000367409.4	-	18	6105	c.5849C>T	c.(5848-5850)gCg>gTg	p.A1950V	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1950	IQ 12. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CACCAGTACCGCATGACGGAG	0.393																																						ENST00000367409.4																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(5848-5850)gCg>gTg		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)		G	,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	219.0	213.0	215.0		,5849	5.6	0.0	1		215	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense	ASPM	NM_001206846.1,NM_018136.4	,64	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,benign	,1950/3478	197072532	2,13004	2203	4300	6503	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197072532G>A	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.5849C>T	1.37:g.197072532G>A	ENSP00000356379:p.Ala1950Val					ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	p.A1950V	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			18	6105	-			1950			IQ 12.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.5849C>T	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	G	14.20	2.465838	0.43839	2.27E-4	1.16E-4	ENSG00000066279	ENST00000367409	T	0.72942	-0.7	5.62	5.62	0.85841	.	0.240301	0.35013	N	0.003508	T	0.73682	0.3618	M	0.88031	2.925	0.33688	D	0.61294	P	0.46512	0.879	B	0.40256	0.324	D	0.84790	0.0778	10	0.52906	T	0.07	.	11.2614	0.49085	0.0:0.2325:0.6416:0.1259	.	1950	Q8IZT6	ASPM_HUMAN	V	1950	ENSP00000356379:A1950V	ENSP00000356379:A1950V	A	-	2	0	ASPM	195339155	0.377000	0.25106	0.044000	0.18714	0.002000	0.02628	3.229000	0.51278	2.648000	0.89879	0.650000	0.86243	GCG		0.393	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		7	1150	0	0	0	1	0	7	1150				
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G	rs372894655	byFrequency	TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532			T	MLL	ALL								A|||	612	0.122204	0.1505	0.1066	5008	,	,		12422	0.0833		0.0716	False		,,,				2504	0.1871					ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		19	Substitution - coding silent(19)	p.S167S(19)	lung(8)|kidney(5)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(499-501)agT>agC		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							8.0	15.0	13.0					9																	20414343		1537	3257	4794	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414343A>G	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.501T>C	9.37:g.20414343A>G						MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S	p.S167S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	787	-			167			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.501T>C	CCDS6494.1																																																																																				0.532	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		25	302	0	0	0	1	0	25	302				
ACTR1B	10120	broad.mit.edu	37	2	98273974	98273974	+	Splice_Site	SNP	T	T	A			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr2:98273974T>A	ENST00000289228.5	-	9	1142		c.e9-2			NM_005735.3	NP_005726.1	P42025	ACTY_HUMAN	ARP1 actin-related protein 1 homolog B, centractin beta (yeast)						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)			endometrium(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	15						CTCCGAAGCCTGTGAACACAA	0.587																																						ENST00000289228.5																			0				endometrium(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	15						c.e9-2		ARP1 actin-related protein 1 homolog B, centractin beta (yeast)							93.0	101.0	98.0					2																	98273974		2203	4300	6503	SO:0001630	splice_region_variant	10120					centrosome|dynactin complex	ATP binding|protein binding	g.chr2:98273974T>A	X82207	CCDS2033.1	2q11.1-q11.2	2008-05-20	2001-11-28		ENSG00000115073	ENSG00000115073			168	protein-coding gene	gene with protein product		605144	"""ARP1 (actin-related protein 1, yeast) homolog B (centractin beta)"""	CTRN2		7696711, 10343100	Standard	NM_005735		Approved		uc002syb.2	P42025	OTTHUMG00000130549	ENST00000289228.5:c.926-2A>T	2.37:g.98273974T>A								NM_005735.3	NP_005726.1	P42025	ACTY_HUMAN			9	1142	-								D3DVH2|Q53SK5|Q9BRB7	Splice_Site	SNP	ENST00000289228.5	37		CCDS2033.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.600952	0.87055	.	.	ENSG00000115073	ENST00000289228	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3258	0.60459	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ACTR1B	97640406	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.639000	0.83342	2.034000	0.60081	0.459000	0.35465	.		0.587	ACTR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252973.1	NM_005735	Intron	5	547	0	0	0	1	0	5	547				
TMCC1	23023	broad.mit.edu	37	3	129370592	129370592	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr3:129370592T>A	ENST00000393238.3	-	6	2034	c.1694A>T	c.(1693-1695)cAg>cTg	p.Q565L	TMCC1_ENST00000329333.5_Missense_Mutation_p.Q386L|TMCC1_ENST00000426664.2_Missense_Mutation_p.Q451L|TMCC1_ENST00000432054.2_Missense_Mutation_p.Q241L	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	565						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						CTGCTGCTGCTGCAGCTCCAT	0.572																																						ENST00000393238.3																		PLXND1/TMCC1(4)	0				breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						c.(1693-1695)cAg>cTg		transmembrane and coiled-coil domain family 1							79.0	76.0	77.0					3																	129370592		2203	4300	6503	SO:0001583	missense	23023					integral to membrane		g.chr3:129370592T>A	AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"""Transmembrane and coiled-coil domain containing"""	29116	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 1"""			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.1694A>T	3.37:g.129370592T>A	ENSP00000376930:p.Gln565Leu					TMCC1_ENST00000432054.2_Missense_Mutation_p.Q241L|TMCC1_ENST00000426664.2_Missense_Mutation_p.Q451L|TMCC1_ENST00000329333.5_Missense_Mutation_p.Q386L	p.Q565L	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN			6	2034	-			565					A8K5Y3|B4DE04|Q68E06|Q8IXM8	Missense_Mutation	SNP	ENST00000393238.3	37	c.1694A>T	CCDS33855.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.009576	0.75046	.	.	ENSG00000172765	ENST00000432054;ENST00000393238;ENST00000426664;ENST00000329333	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.61261	0.2333	L	0.46614	1.455	0.80722	D	1	D;D	0.67145	0.996;0.985	D;D	0.85130	0.997;0.973	T	0.58278	-0.7664	10	0.33940	T	0.23	-18.4911	15.1509	0.72696	0.0:0.0:0.0:1.0	.	386;565	B4DE04;O94876	.;TMCC1_HUMAN	L	241;565;451;386	ENSP00000404711:Q241L;ENSP00000376930:Q565L;ENSP00000389892:Q451L;ENSP00000327349:Q386L	ENSP00000327349:Q386L	Q	-	2	0	TMCC1	130853282	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.735000	0.84939	2.172000	0.68678	0.533000	0.62120	CAG		0.572	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008		6	412	0	0	0	1	0	6	412				
DAB2IP	153090	broad.mit.edu	37	9	124528949	124528949	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr9:124528949G>A	ENST00000408936.3	+	9	1819	c.1637G>A	c.(1636-1638)cGc>cAc	p.R546H	DAB2IP_ENST00000259371.2_Missense_Mutation_p.R518H|DAB2IP_ENST00000309989.1_Missense_Mutation_p.R422H			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	546	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|angiogenesis (GO:0001525)|cell cycle (GO:0007049)|cell motility involved in cerebral cortex radial glia guided migration (GO:0021814)|cellular protein catabolic process (GO:0044257)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|layer formation in cerebral cortex (GO:0021819)|negative regulation of angiogenesis (GO:0016525)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of GTPase activity (GO:0034260)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuron projection morphogenesis (GO:0048812)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of dendrite development (GO:1900006)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of synapse maturation (GO:0090129)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of ARF GTPase activity (GO:0032312)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein complex assembly (GO:0043254)|response to unfolded protein (GO:0006986)|transformed cell apoptotic process (GO:0006927)|tube formation (GO:0035148)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	axon (GO:0030424)|cerebellar mossy fiber (GO:0044300)|climbing fiber (GO:0044301)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|neuronal cell body (GO:0043025)|neuronal cell body membrane (GO:0032809)|parallel fiber (GO:1990032)|plasma membrane (GO:0005886)	14-3-3 protein binding (GO:0071889)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|mitogen-activated protein kinase kinase binding (GO:0031434)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase 2A binding (GO:0051721)|Ras GTPase activator activity (GO:0005099)|SH3 domain binding (GO:0017124)|signaling adaptor activity (GO:0035591)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						CCTGATGACCGCACTGCCCGC	0.627																																						ENST00000408936.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(1636-1638)cGc>cAc		DAB2 interacting protein							165.0	146.0	153.0					9																	124528949		2203	4300	6503	SO:0001583	missense	153090				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity	g.chr9:124528949G>A	AF367051	CCDS6832.1, CCDS6833.2	9q33.1-q33.3	2008-07-21			ENSG00000136848	ENSG00000136848			17294	protein-coding gene	gene with protein product	"""nGAP-like protein"", ""DOC-2/DAB2 interactive protein"", ""ASK-interacting protein"", ""ASK1-interacting protein 1"""	609205				11944990, 11812785	Standard	XM_005251721		Approved	AF9Q34, DIP1/2, KIAA1743, AIP1	uc004bln.3	Q5VWQ8	OTTHUMG00000020595	ENST00000408936.3:c.1637G>A	9.37:g.124528949G>A	ENSP00000386183:p.Arg546His					DAB2IP_ENST00000259371.2_Missense_Mutation_p.R518H|DAB2IP_ENST00000309989.1_Missense_Mutation_p.R422H	p.R546H			Q5VWQ8	DAB2P_HUMAN			9	1819	+			546			Ras-GAP.		A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	Missense_Mutation	SNP	ENST00000408936.3	37	c.1637G>A		.	.	.	.	.	.	.	.	.	.	G	25.6	4.659874	0.88154	.	.	ENSG00000136848	ENST00000259371;ENST00000408936;ENST00000373782;ENST00000309989	T;T;T;T	0.80304	-1.36;-1.36;-1.36;-1.36	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	D	0.88396	0.6425	M	0.68952	2.095	0.80722	D	1	D	0.76494	0.999	D	0.71870	0.975	D	0.89826	0.3992	10	0.87932	D	0	.	17.225	0.86967	0.0:0.0:1.0:0.0	.	518	G3XA90	.	H	518;546;455;422	ENSP00000259371:R518H;ENSP00000386183:R546H;ENSP00000362887:R455H;ENSP00000310827:R422H	ENSP00000259371:R518H	R	+	2	0	DAB2IP	123568770	1.000000	0.71417	0.998000	0.56505	0.571000	0.35966	9.813000	0.99286	2.364000	0.80123	0.655000	0.94253	CGC		0.627	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317857.1	NM_032552		6	795	0	0	0	1	0	6	795				
IRF5	3663	broad.mit.edu	37	7	128588348	128588348	+	Missense_Mutation	SNP	G	G	A	rs201569154		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr7:128588348G>A	ENST00000402030.2	+	8	1289	c.1217G>A	c.(1216-1218)cGc>cAc	p.R406H	IRF5_ENST00000473745.1_Missense_Mutation_p.R406H|IRF5_ENST00000249375.4_Missense_Mutation_p.R406H|IRF5_ENST00000477535.1_Missense_Mutation_p.R320H|IRF5_ENST00000357234.5_Missense_Mutation_p.R422H	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	Q13568	IRF5_HUMAN	interferon regulatory factor 5	406					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						TGGCCTGACCGCAAACCCCGA	0.527													G|||	1	0.000199681	0.0	0.0	5008	,	,		20523	0.0		0.001	False		,,,				2504	0.0					ENST00000402030.2																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						c.(1216-1218)cGc>cAc		interferon regulatory factor 5							121.0	120.0	120.0					7																	128588348		2203	4300	6503	SO:0001583	missense	3663				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:128588348G>A		CCDS5808.1, CCDS43645.1, CCDS56512.1	7q32	2008-07-18			ENSG00000128604	ENSG00000128604			6120	protein-coding gene	gene with protein product		607218					Standard	XM_005250317		Approved		uc003vog.3	Q13568	OTTHUMG00000158410	ENST00000402030.2:c.1217G>A	7.37:g.128588348G>A	ENSP00000385352:p.Arg406His					IRF5_ENST00000249375.4_Missense_Mutation_p.R406H|IRF5_ENST00000357234.5_Missense_Mutation_p.R422H|IRF5_ENST00000477535.1_Missense_Mutation_p.R320H|IRF5_ENST00000473745.1_Missense_Mutation_p.R406H	p.R406H	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	Q13568	IRF5_HUMAN			8	1289	+			406					A4D1J8|A8DUA8|A8DUA9|E7EQ16|E7EW54|Q1A7B4|Q64GA9|Q64GB1|Q64GB2|Q6RCM8|Q9BQF0	Missense_Mutation	SNP	ENST00000402030.2	37	c.1217G>A	CCDS5808.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	9.838	1.190210	0.21954	.	.	ENSG00000128604	ENST00000357234;ENST00000477535;ENST00000402030;ENST00000249375;ENST00000473745;ENST00000412326	D;D;D;D;D	0.94758	-3.51;-3.51;-3.51;-3.51;-3.51	5.39	-1.38	0.09027	SMAD domain-like (1);SMAD/FHA domain (1);Interferon regulatory factor-3 (1);	1.924310	0.02538	N	0.094301	D	0.87581	0.6213	N	0.25647	0.755	0.09310	N	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.04013	0.0;0.0;0.001	T	0.73665	-0.3911	10	0.25106	T	0.35	-0.8749	0.5929	0.00731	0.2382:0.1348:0.2381:0.3889	.	320;406;422	E7EW54;Q13568;Q13568-2	.;IRF5_HUMAN;.	H	422;320;406;406;406;396	ENSP00000349770:R422H;ENSP00000419950:R320H;ENSP00000385352:R406H;ENSP00000249375:R406H;ENSP00000419149:R406H	ENSP00000249375:R406H	R	+	2	0	IRF5	128375584	0.000000	0.05858	0.889000	0.34880	0.936000	0.57629	-1.254000	0.02874	-0.263000	0.09378	-0.311000	0.09066	CGC		0.527	IRF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350934.1	NM_001098627		6	468	0	0	0	1	0	6	468				
GRM1	2911	broad.mit.edu	37	6	146351187	146351187	+	Silent	SNP	C	C	T			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr6:146351187C>T	ENST00000282753.1	+	1	769	c.534C>T	c.(532-534)ttC>ttT	p.F178F	GRM1_ENST00000361719.2_Silent_p.F178F|GRM1_ENST00000355289.4_Silent_p.F178F|GRM1_ENST00000492807.2_Silent_p.F178F|GRM1_ENST00000507907.1_Silent_p.F178F|GRM1_ENST00000392299.2_Silent_p.F178F			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	178					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		TCCAGCTCTTCGACATCCCCC	0.542																																						ENST00000392299.2																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(532-534)ttC>ttT		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						83.0	84.0	84.0					6																	146351187		2203	4300	6503	SO:0001819	synonymous_variant	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146351187C>T	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.534C>T	6.37:g.146351187C>T						GRM1_ENST00000507907.1_Silent_p.F178F|GRM1_ENST00000361719.2_Silent_p.F178F|GRM1_ENST00000282753.1_Silent_p.F178F|GRM1_ENST00000492807.2_Silent_p.F178F|GRM1_ENST00000355289.4_Silent_p.F178F	p.F178F			Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	2	1004	+		Ovarian(120;0.0387)	178					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Silent	SNP	ENST00000282753.1	37	c.534C>T	CCDS5209.1																																																																																				0.542	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		191	358	0	0	0	1	0	191	358				
ZNF626	199777	broad.mit.edu	37	19	20807460	20807460	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr19:20807460T>C	ENST00000601440.1	-	4	1369	c.1223A>G	c.(1222-1224)tAc>tGc	p.Y408C	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	408					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Y408C(1)		breast(1)|endometrium(1)|lung(3)|skin(1)	6						GTTAGAGGAGTACTTAAAAGC	0.408																																						ENST00000601440.1																			1	Substitution - Missense(1)	p.Y408C(1)	lung(1)	breast(1)|endometrium(1)|lung(3)|skin(1)	6						c.(1222-1224)tAc>tGc		zinc finger protein 626							59.0	62.0	61.0					19																	20807460		2156	4279	6435	SO:0001583	missense	199777				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20807460T>C	BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"""Zinc fingers, C2H2-type"", ""-"""	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.1223A>G	19.37:g.20807460T>C	ENSP00000469958:p.Tyr408Cys					CTC-513N18.7_ENST00000595094.1_lincRNA	p.Y408C	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN			4	1369	-			408					Q8N8T4|Q96QM1	Missense_Mutation	SNP	ENST00000601440.1	37	c.1223A>G	CCDS42535.1	.	.	.	.	.	.	.	.	.	.	N	0.009	-1.833357	0.00579	.	.	ENSG00000188171	ENST00000392298;ENST00000453075;ENST00000305570	.	.	.	0.898	0.898	0.19264	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28067	0.0692	L	0.31845	0.965	0.20074	N	0.999937	B	0.06786	0.001	B	0.15052	0.012	T	0.20739	-1.0266	8	0.34782	T	0.22	.	5.5612	0.17144	0.0:0.0:0.0:1.0	.	408	Q68DY1	ZN626_HUMAN	C	408;332;408	.	ENSP00000445201:Y408C	Y	-	2	0	ZNF626	20599300	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-5.822000	0.00096	0.243000	0.21327	0.240000	0.17902	TAC		0.408	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447845.2	NM_145297		5	465	0	0	0	1	0	5	465				
FRG1B	284802	broad.mit.edu	37	20	29633900	29633900	+	Missense_Mutation	SNP	A	A	G	rs60081496		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr20:29633900A>G	ENST00000278882.3	+	9	919	c.539A>G	c.(538-540)gAa>gGa	p.E180G	FRG1B_ENST00000358464.4_Missense_Mutation_p.E180G			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	180								p.E180G(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAAACAAGAGAACCAAATTGA	0.264																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.E180G(2)	kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(538-540)gAa>gGa																																						SO:0001583	missense	0							g.chr20:29633900A>G			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.539A>G	20.37:g.29633900A>G	ENSP00000278882:p.Glu180Gly					FRG1B_ENST00000358464.4_Missense_Mutation_p.E180G	p.E180G							9	919	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.539A>G		.	.	.	.	.	.	.	.	.	.	a	9.128	1.010735	0.19277	.	.	ENSG00000149531	ENST00000278882;ENST00000358464	.	.	.	1.62	1.62	0.23740	.	.	.	.	.	T	0.41351	0.1155	.	.	.	0.21697	N	0.999586	.	.	.	.	.	.	T	0.36625	-0.9740	5	0.87932	D	0	.	7.2988	0.26408	1.0:0.0:0.0:0.0	rs60081496	.	.	.	G	180	.	ENSP00000278882:E180G	E	+	2	0	FRG1B	28247561	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	4.560000	0.60802	0.995000	0.38917	0.411000	0.27672	GAA		0.264	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		9	300	0	0	0	1	0	9	300				
TBP	6908	broad.mit.edu	37	6	170871055	170871055	+	Silent	SNP	G	G	A	rs112928724|rs369312237		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr6:170871055G>A	ENST00000392092.2	+	3	510	c.231G>A	c.(229-231)caG>caA	p.Q77Q	TBP_ENST00000540980.1_Silent_p.Q57Q|TBP_ENST00000230354.6_Silent_p.Q77Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	77	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		aacagcagcagcagcagcagc	0.572																																						ENST00000392092.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26						c.(229-231)caG>caA		TATA box binding protein							14.0	18.0	17.0					6																	170871055		1934	3804	5738	SO:0001819	synonymous_variant	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170871055G>A	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.231G>A	6.37:g.170871055G>A						TBP_ENST00000540980.1_Silent_p.Q57Q|TBP_ENST00000230354.6_Silent_p.Q77Q	p.Q77Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	3	510	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	77			Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	c.231G>A	CCDS5315.1																																																																																				0.572	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		8	225	0	0	0	1	0	8	225				
TRH	7200	broad.mit.edu	37	3	129695840	129695840	+	Silent	SNP	G	G	A			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr3:129695840G>A	ENST00000302649.3	+	3	1037	c.510G>A	c.(508-510)gaG>gaA	p.E170E	TRH_ENST00000507066.1_Silent_p.E166E	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	170					adult walking behavior (GO:0007628)|cell-cell signaling (GO:0007267)|eating behavior (GO:0042755)|histamine metabolic process (GO:0001692)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of feeding behavior (GO:2000252)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of insulin secretion (GO:0032024)|response to cold (GO:0009409)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	thyrotropin-releasing hormone activity (GO:0008437)	p.E170E(1)		NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						Gggaagaagaggaggaggagg	0.642																																					Esophageal Squamous(60;321 1330 17401 41911)	ENST00000302649.3																			1	Substitution - coding silent(1)	p.E170E(1)	prostate(1)	NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						c.(508-510)gaG>gaA		thyrotropin-releasing hormone							33.0	35.0	34.0					3																	129695840		2202	4300	6502	SO:0001819	synonymous_variant	7200				cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity	g.chr3:129695840G>A		CCDS3066.1	3q13.3-q21	2013-02-28				ENSG00000170893		"""Endogenous ligands"""	12298	protein-coding gene	gene with protein product	"""prothyroliberin"""	613879				2126343, 1900134	Standard	NM_007117		Approved		uc003enc.4	P20396		ENST00000302649.3:c.510G>A	3.37:g.129695840G>A						TRH_ENST00000507066.1_Silent_p.E166E	p.E170E	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN			3	1037	+			170					B2R8R1|Q2TB83	Silent	SNP	ENST00000302649.3	37	c.510G>A	CCDS3066.1																																																																																				0.642	TRH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356592.1	NM_007117		5	333	0	0	0	1	0	5	333				
GPR125	166647	broad.mit.edu	37	4	22390725	22390725	+	Silent	SNP	C	C	T			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr4:22390725C>T	ENST00000334304.5	-	18	2978	c.2709G>A	c.(2707-2709)cgG>cgA	p.R903R	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	903					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)	p.R903R(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				GTGCGTTTGGCCGACTGCCGT	0.418																																						ENST00000334304.5																			1	Substitution - coding silent(1)	p.R903R(1)	lung(1)	breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56						c.(2707-2709)cgG>cgA		G protein-coupled receptor 125							206.0	217.0	213.0					4																	22390725		2203	4300	6503	SO:0001819	synonymous_variant	166647				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	g.chr4:22390725C>T	AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.2709G>A	4.37:g.22390725C>T						GPR125_ENST00000282943.5_5'UTR	p.R903R	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN			18	2978	-		Breast(46;0.198)	903					Q6UXK9|Q86SQ5|Q8TC55	Silent	SNP	ENST00000334304.5	37	c.2709G>A	CCDS33964.1																																																																																				0.418	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3			9	1119	0	0	0	1	0	9	1119				
INTS4L1	285905	broad.mit.edu	37	7	64639752	64639752	+	RNA	SNP	A	A	T	rs201003787	byFrequency	TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr7:64639752A>T	ENST00000587624.1	+	0	635							Q96LV5	IN4L1_HUMAN	integrator complex subunit 4-like 1																		TTGATTTCCTAGTTGACATGT	0.443																																						ENST00000587624.1																			0																																																			0							g.chr7:64639752A>T			7q11.21	2013-03-26			ENSG00000164669	ENSG00000164669			21925	other	unknown							Standard	XR_426205		Approved	FLJ25037		Q96LV5	OTTHUMG00000156510		7.37:g.64639752A>T														0	635	+									RNA	SNP	ENST00000587624.1	37																																																																																						0.443	INTS4L1-002	KNOWN	non_canonical_conserved|basic	processed_transcript	pseudogene	OTTHUMT00000460821.1	XR_041315		18	152	0	0	0	1	0	18	152				
FOXN1	8456	broad.mit.edu	37	17	26851719	26851719	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr17:26851719G>A	ENST00000226247.2	+	2	351	c.322G>A	c.(322-324)Gca>Aca	p.A108T	FOXN1_ENST00000579795.1_Missense_Mutation_p.A108T	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	108					defense response (GO:0006952)|epidermis development (GO:0008544)|epithelial cell proliferation (GO:0050673)|hair follicle development (GO:0001942)|keratinocyte differentiation (GO:0030216)|lymphocyte homeostasis (GO:0002260)|nail development (GO:0035878)|organ morphogenesis (GO:0009887)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					TGAGGAGGCCGCAGCAAGCAG	0.667																																						ENST00000226247.2																			0				endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(322-324)Gca>Aca		forkhead box N1							25.0	27.0	26.0					17																	26851719		2202	4298	6500	SO:0001583	missense	8456				defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr17:26851719G>A	Y11739	CCDS11232.1	17q11-q12	2014-09-17	2003-06-12	2003-06-13	ENSG00000109101	ENSG00000109101		"""Forkhead boxes"""	12765	protein-coding gene	gene with protein product		600838	"""winged-helix nude"", ""Rowett nude"""	WHN, RONU		9321431	Standard	NM_003593		Approved	FKHL20	uc002hbj.3	O15353	OTTHUMG00000132603	ENST00000226247.2:c.322G>A	17.37:g.26851719G>A	ENSP00000226247:p.Ala108Thr					FOXN1_ENST00000579795.1_Missense_Mutation_p.A108T	p.A108T	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN			2	351	+	Lung NSC(42;0.00431)		108					B2R9Q7|O15352	Missense_Mutation	SNP	ENST00000226247.2	37	c.322G>A	CCDS11232.1	.	.	.	.	.	.	.	.	.	.	C	15.24	2.775438	0.49786	.	.	ENSG00000109101	ENST00000226247	D	0.91894	-2.93	5.49	0.553	0.17235	.	0.444607	0.23141	N	0.051470	T	0.76969	0.4062	N	0.04508	-0.205	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.63479	-0.6628	10	0.18276	T	0.48	.	6.5115	0.22224	0.117:0.3429:0.4602:0.0799	.	108	O15353	FOXN1_HUMAN	T	108	ENSP00000226247:A108T	ENSP00000226247:A108T	A	+	1	0	FOXN1	23875846	0.002000	0.14202	0.082000	0.20525	0.786000	0.44442	-0.092000	0.11129	0.034000	0.15491	-1.168000	0.01747	GCA		0.667	FOXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255832.1			4	166	0	0	0	1	0	4	166				
NPEPPS	9520	broad.mit.edu	37	17	45662927	45662927	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr17:45662927G>A	ENST00000322157.4	+	6	947	c.710G>A	c.(709-711)cGc>cAc	p.R237H	NPEPPS_ENST00000544660.1_Missense_Mutation_p.R157H|NPEPPS_ENST00000525037.1_3'UTR|NPEPPS_ENST00000530173.1_Missense_Mutation_p.R233H	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	237					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular response to hypoxia (GO:0071456)|protein polyubiquitination (GO:0000209)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						AAGTTTGCCCGCACACCTGTT	0.353																																						ENST00000322157.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						c.(709-711)cGc>cAc		aminopeptidase puromycin sensitive							120.0	113.0	115.0					17																	45662927		1842	4088	5930	SO:0001583	missense	9520				proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding	g.chr17:45662927G>A	Y07701	CCDS45721.1	17q12-q21	2008-07-18			ENSG00000141279	ENSG00000141279	3.4.11.2		7900	protein-coding gene	gene with protein product	"""puromycin-sensitive aminopeptidase"", ""metalloproteinase MP100"""	606793				9048733, 10329370	Standard	NM_006310		Approved	PSA, MP100	uc002ilr.4	P55786	OTTHUMG00000165471	ENST00000322157.4:c.710G>A	17.37:g.45662927G>A	ENSP00000320324:p.Arg237His					NPEPPS_ENST00000525037.1_3'UTR|NPEPPS_ENST00000530173.1_Missense_Mutation_p.R233H|NPEPPS_ENST00000544660.1_Missense_Mutation_p.R157H	p.R237H	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN			6	947	+			237					B7Z463|Q6P145|Q9NP16|Q9UEM2	Missense_Mutation	SNP	ENST00000322157.4	37	c.710G>A	CCDS45721.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.959496	0.74016	.	.	ENSG00000141279	ENST00000530173;ENST00000322157;ENST00000539572;ENST00000544660	T;T;T	0.02763	4.17;4.17;4.17	5.52	5.52	0.82312	Peptidase M1, membrane alanine aminopeptidase, N-terminal (4);	0.085770	0.64402	D	0.000002	T	0.20659	0.0497	M	0.91140	3.18	0.53688	D	0.999978	D;D;D	0.71674	0.998;0.973;0.973	D;P;P	0.63381	0.914;0.738;0.791	T	0.02471	-1.1154	10	0.62326	D	0.03	.	19.4252	0.94739	0.0:0.0:1.0:0.0	.	237;233;237	A6NEC2;E9PLK3;P55786	PSAL_HUMAN;.;PSA_HUMAN	H	233;237;224;157	ENSP00000433287:R233H;ENSP00000320324:R237H;ENSP00000442461:R157H	ENSP00000320324:R237H	R	+	2	0	NPEPPS	43017926	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.166000	0.71896	2.600000	0.87896	0.650000	0.86243	CGC		0.353	NPEPPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384269.1	NM_006310		7	651	0	0	0	1	0	7	651				
TEP1	7011	broad.mit.edu	37	14	20841276	20841276	+	Missense_Mutation	SNP	G	G	A	rs370861793		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr14:20841276G>A	ENST00000262715.5	-	48	6885	c.6845C>T	c.(6844-6846)gCc>gTc	p.A2282V	TEP1_ENST00000556935.1_Missense_Mutation_p.A2174V|TEP1_ENST00000545983.1_Missense_Mutation_p.A620V	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2282					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		AGCAGTGACGGCTGCAGAACT	0.512																																						ENST00000262715.5																			0				NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(6844-6846)gCc>gTc		telomerase-associated protein 1		G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	71.0	69.0	69.0		6845	4.6	0.9	14		69	0,8600		0,0,4300	no	missense	TEP1	NM_007110.4	64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	2282/2628	20841276	1,13005	2203	4300	6503	SO:0001583	missense	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20841276G>A		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.6845C>T	14.37:g.20841276G>A	ENSP00000262715:p.Ala2282Val					TEP1_ENST00000545983.1_Missense_Mutation_p.A620V|TEP1_ENST00000556935.1_Missense_Mutation_p.A2174V	p.A2282V	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	48	6885	-	all_cancers(95;0.00123)	all_lung(585;0.235)	2282					A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	c.6845C>T	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	G	12.92	2.083157	0.36758	2.27E-4	0.0	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935;ENST00000545983	T;T;T	0.81078	2.17;2.17;-1.45	5.47	4.57	0.56435	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.722991	0.13739	N	0.366119	T	0.73466	0.3590	L	0.50333	1.59	0.41394	D	0.987636	B;B;B;B	0.18166	0.007;0.018;0.026;0.011	B;B;B;B	0.19946	0.005;0.027;0.015;0.012	T	0.63786	-0.6558	10	0.11182	T	0.66	-5.363	10.9068	0.47084	0.0886:0.0:0.9114:0.0	.	620;2174;1625;2282	B4E0B6;G3V5X7;G3V2A4;Q99973	.;.;.;TEP1_HUMAN	V	2282;2282;2174;620	ENSP00000262715:A2282V;ENSP00000452574:A2174V;ENSP00000438849:A620V	ENSP00000262715:A2282V	A	-	2	0	TEP1	19911116	0.974000	0.33945	0.948000	0.38648	0.818000	0.46254	1.121000	0.31283	1.416000	0.47057	0.655000	0.94253	GCC		0.512	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		5	501	0	0	0	1	0	5	501				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522772	95522772	+	RNA	SNP	T	T	C	rs368571207		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	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			8	346	0	0	0	1	0	8	346				
BMS1P20	96610	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G	rs187344612		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr22:22664606A>G	ENST00000426066.1	+	0	787					NR_027293.1				BMS1 pseudogene 20																		GTCTTCATGCAAACTTGGTAT	0.398																																						ENST00000426066.1																			0																																																			0							g.chr22:22664606A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664606A>G								NR_027293.1						0	787	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.398	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			4	134	0	0	0	1	0	4	134				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr2:95522786T>C	ENST00000432432.2	-	0	241					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene									p.K44K(1)									CGGCGTCGCCTTTGACAGCTG	0.687																																						ENST00000432432.2																			1	Substitution - coding silent(1)	p.K44K(1)	prostate(1)																																																0							g.chr2:95522786T>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.95522786T>C								NR_040113.1						0	241	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.687	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			9	370	0	0	0	1	0	9	370				
SH3TC1	54436	broad.mit.edu	37	4	8218705	8218705	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr4:8218705C>G	ENST00000245105.3	+	7	717	c.650C>G	c.(649-651)cCt>cGt	p.P217R	SH3TC1_ENST00000539824.1_Missense_Mutation_p.P141R	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	217										NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						GTCCTGTGTCCTGACCACCAT	0.682																																					NSCLC(145;2298 2623 35616 37297)	ENST00000539824.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(421-423)cCt>cGt		SH3 domain and tetratricopeptide repeats 1							108.0	94.0	99.0					4																	8218705		2203	4300	6503	SO:0001583	missense	54436						binding	g.chr4:8218705C>G	AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"""Tetratricopeptide (TTC) repeat domain containing"""	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.650C>G	4.37:g.8218705C>G	ENSP00000245105:p.Pro217Arg					SH3TC1_ENST00000245105.3_Missense_Mutation_p.P217R	p.P141R			Q8TE82	S3TC1_HUMAN			7	796	+			217					Q4W5G5	Missense_Mutation	SNP	ENST00000245105.3	37	c.422C>G	CCDS3399.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.057449	0.36277	.	.	ENSG00000125089	ENST00000245105;ENST00000539824;ENST00000535265;ENST00000508641	T;T;T	0.76186	-1.0;-0.99;0.19	3.92	3.06	0.35304	.	0.353893	0.25523	N	0.030088	T	0.79240	0.4412	L	0.43152	1.355	0.34759	D	0.732591	D	0.62365	0.991	D	0.66847	0.947	D	0.83857	0.0266	10	0.72032	D	0.01	-1.8145	11.6341	0.51194	0.0:0.8195:0.1805:0.0	.	217	Q8TE82	S3TC1_HUMAN	R	217;141;46;26	ENSP00000245105:P217R;ENSP00000441045:P141R;ENSP00000426035:P26R	ENSP00000245105:P217R	P	+	2	0	SH3TC1	8269605	1.000000	0.71417	0.973000	0.42090	0.376000	0.30014	2.970000	0.49240	0.617000	0.30160	0.313000	0.20887	CCT		0.682	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2	NM_018986		84	374	0	0	0	1	0	84	374				
DCX	1641	broad.mit.edu	37	X	110644391	110644391	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chrX:110644391G>A	ENST00000338081.3	-	3	946	c.775C>T	c.(775-777)Cgc>Tgc	p.R259C	DCX_ENST00000496551.1_5'UTR|DCX_ENST00000356915.2_Missense_Mutation_p.R178C|DCX_ENST00000371993.2_Missense_Mutation_p.R178C|DCX_ENST00000356220.3_Missense_Mutation_p.R178C|DCX_ENST00000488120.1_Missense_Mutation_p.R178C	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	259			R -> C (in SBHX). {ECO:0000269|PubMed:12390976}.|R -> L (in SBHX).		axon extension (GO:0048675)|axon guidance (GO:0007411)|brain development (GO:0007420)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neuron migration (GO:0001764)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuron projection (GO:0043005)	microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)	p.R178C(1)|p.R259C(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						AGCTTGGGGCGCACAAAGTCC	0.537																																						ENST00000338081.3																			2	Substitution - Missense(2)	p.R178C(1)|p.R259C(1)	kidney(2)	breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41	GRCh37	CM023910	DCX	M		c.(775-777)Cgc>Tgc		doublecortin							128.0	105.0	113.0					X																	110644391		2203	4300	6503	SO:0001583	missense	1641				axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding	g.chrX:110644391G>A	AF040254	CCDS14556.1, CCDS14557.1, CCDS14558.1	Xq22.3-q23	2008-08-01	2008-08-01		ENSG00000077279	ENSG00000077279			2714	protein-coding gene	gene with protein product	"""doublecortex"""	300121	"""doublecortex; lissencephaly, X-linked (doublecortin)"""			9489699, 9489700	Standard	NM_178151		Approved	SCLH, DC, LISX, DBCN, XLIS	uc004epd.3	O43602	OTTHUMG00000022204	ENST00000338081.3:c.775C>T	X.37:g.110644391G>A	ENSP00000337697:p.Arg259Cys					DCX_ENST00000371993.2_Missense_Mutation_p.R178C|DCX_ENST00000356915.2_Missense_Mutation_p.R178C|DCX_ENST00000356220.3_Missense_Mutation_p.R178C|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000488120.1_Missense_Mutation_p.R178C	p.R259C	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN			3	946	-			259		R -> C (in SBHX).|R -> L (in SBHX).			A6NFY6|A9Z1V8|D3DUY8|D3DUY9|D3DUZ0|O43911|Q5JYZ5	Missense_Mutation	SNP	ENST00000338081.3	37	c.775C>T	CCDS14556.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.679772	0.88542	.	.	ENSG00000077279	ENST00000356915;ENST00000371993;ENST00000338081;ENST00000356220;ENST00000488120	D;D;D;D;D	0.93953	-3.32;-3.32;-3.32;-3.32;-3.32	4.74	4.74	0.60224	Doublecortin domain (3);	0.131721	0.50627	D	0.000104	D	0.95592	0.8567	L	0.59436	1.845	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.66351	0.943;0.917	D	0.96124	0.9087	10	0.72032	D	0.01	.	17.6068	0.88040	0.0:0.0:1.0:0.0	.	247;259	B4DM53;O43602	.;DCX_HUMAN	C	178;178;259;178;178	ENSP00000349385:R178C;ENSP00000361061:R178C;ENSP00000337697:R259C;ENSP00000348553:R178C;ENSP00000419861:R178C	ENSP00000337697:R259C	R	-	1	0	DCX	110531047	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.624000	0.74243	2.283000	0.76528	0.600000	0.82982	CGC		0.537	DCX-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357058.1	NM_178153		7	481	0	0	0	1	0	7	481				
PER2	8864	broad.mit.edu	37	2	239169499	239169499	+	Silent	SNP	G	G	A	rs145850151		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr2:239169499G>A	ENST00000254657.3	-	13	1791	c.1512C>T	c.(1510-1512)aaC>aaT	p.N504N	PER2_ENST00000254658.3_3'UTR	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	504					circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		CCTCATGGCCGTTGCTGTCGC	0.602													G|||	1	0.000199681	0.0	0.0	5008	,	,		17233	0.0		0.001	False		,,,				2504	0.0					ENST00000254657.3																			0				NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(1510-1512)aaC>aaT		period circadian clock 2							173.0	191.0	185.0					2																	239169499		2203	4300	6503	SO:0001819	synonymous_variant	8864				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity	g.chr2:239169499G>A	AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"""period (Drosophila) homolog 2"", ""period homolog 2 (Drosophila)"""			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.1512C>T	2.37:g.239169499G>A						PER2_ENST00000254658.3_3'UTR	p.N504N	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)	13	1791	-		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)	504					A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Silent	SNP	ENST00000254657.3	37	c.1512C>T	CCDS2528.1																																																																																				0.602	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257167.1	NM_022817		9	1274	0	0	0	1	0	9	1274				
MKI67	4288	broad.mit.edu	37	10	129906577	129906577	+	Missense_Mutation	SNP	G	G	A	rs117795868		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr10:129906577G>A	ENST00000368654.3	-	13	3902	c.3527C>T	c.(3526-3528)aCg>aTg	p.T1176M	MKI67_ENST00000368653.3_Missense_Mutation_p.T816M	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1176	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TGGTTTGGGCGTAAGCATGGC	0.463													G|||	1	0.000199681	0.0	0.0	5008	,	,		21842	0.001		0.0	False		,,,				2504	0.0					ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(3526-3528)aCg>aTg		marker of proliferation Ki-67							292.0	278.0	283.0					10																	129906577		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129906577G>A	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.3527C>T	10.37:g.129906577G>A	ENSP00000357643:p.Thr1176Met					MKI67_ENST00000368653.3_Missense_Mutation_p.T816M	p.T1176M	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	3902	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	1176			16 X 122 AA approximate repeats.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.3527C>T	CCDS7659.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	12.05	1.822665	0.32237	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.03301	3.98;3.98	2.74	1.83	0.25207	.	1.848640	0.03443	N	0.209516	T	0.15998	0.0385	M	0.72118	2.19	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.96;0.991;0.989	T	0.06058	-1.0848	10	0.52906	T	0.07	.	5.4955	0.16799	0.1565:0.0:0.8435:0.0	.	1175;816;1176	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	M	1176;816;1175	ENSP00000357643:T1176M;ENSP00000357642:T816M	ENSP00000357642:T816M	T	-	2	0	MKI67	129796567	0.005000	0.15991	0.002000	0.10522	0.005000	0.04900	0.110000	0.15437	0.740000	0.32651	0.462000	0.41574	ACG		0.463	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		7	1199	0	0	0	1	0	7	1199				
MMP9	4318	broad.mit.edu	37	20	44639630	44639630	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr20:44639630G>A	ENST00000372330.3	+	4	609	c.590G>A	c.(589-591)gGc>gAc	p.G197D	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)	197					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)	CCTGGCCCCGGCATTCAGGGA	0.602																																						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.(589-591)gGc>gAc		matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)						86.0	80.0	82.0					20																	44639630		2203	4300	6503	SO:0001583	missense	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.chr20:44639630G>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.590G>A	20.37:g.44639630G>A	ENSP00000361405:p.Gly197Asp						p.G197D	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN			4	609	+		Myeloproliferative disorder(115;0.0122)	197					B2R7V9|Q3LR70|Q8N725|Q9H4Z1|Q9UCJ9|Q9UCL1|Q9UDK2	Missense_Mutation	SNP	ENST00000372330.3	37	c.590G>A	CCDS13390.1	.	.	.	.	.	.	.	.	.	.	G	32	5.125006	0.94429	.	.	ENSG00000100985	ENST00000372330	T	0.23754	1.89	4.62	4.62	0.57501	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.47414	0.1444	M	0.76328	2.33	0.80722	D	1	P	0.40660	0.726	P	0.53649	0.731	T	0.50642	-0.8804	10	0.87932	D	0	.	16.9809	0.86327	0.0:0.0:1.0:0.0	.	197	P14780	MMP9_HUMAN	D	197	ENSP00000361405:G197D	ENSP00000361405:G197D	G	+	2	0	MMP9	44073037	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	9.601000	0.98297	2.553000	0.86117	0.650000	0.86243	GGC		0.602	MMP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080337.1			6	682	0	0	0	1	0	6	682				
OGFR	11054	broad.mit.edu	37	20	61444809	61444809	+	Silent	SNP	A	A	G	rs574057701	byFrequency	TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr20:61444809A>G	ENST00000290291.6	+	7	1867	c.1842A>G	c.(1840-1842)ccA>ccG	p.P614P	OGFR_ENST00000370461.1_Silent_p.P562P	NM_007346.2	NP_031372.2	Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	614	7 X 20 AA approximate tandem repeats of [ST]-P-S-E-T-P-G-P-[SR]-P-A-G-P-[AT]- [GR]-D-E-P-A-[EK].				opioid receptor signaling pathway (GO:0038003)|regulation of cell growth (GO:0001558)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	opioid receptor activity (GO:0004985)			endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17	Breast(26;3.65e-08)					GGGACGAGCCAGCCGAGAGCC	0.756													N|||	12	0.00239617	0.0008	0.0029	5008	,	,		10149	0.0		0.003	False		,,,				2504	0.0061					ENST00000370461.1																			0				endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17						c.(1684-1686)ccA>ccG		opioid growth factor receptor							4.0	7.0	6.0					20																	61444809		1785	3645	5430	SO:0001819	synonymous_variant	11054				regulation of cell growth	cytoplasm|membrane|nucleus	opioid receptor activity	g.chr20:61444809A>G	AF109134	CCDS13504.1	20q13.3	2008-05-02			ENSG00000060491	ENSG00000060491			15768	protein-coding gene	gene with protein product		606459				10677613	Standard	NM_007346		Approved	7-60	uc002ydj.3	Q9NZT2	OTTHUMG00000032937	ENST00000290291.6:c.1842A>G	20.37:g.61444809A>G						OGFR_ENST00000370468.3_Intron|OGFR_ENST00000290291.6_Silent_p.P614P	p.P562P			Q9NZT2	OGFR_HUMAN			5	3963	+	Breast(26;3.65e-08)		614			7 X 20 AA approximate tandem repeats of [ST]-P-S-E-T-P-G-P-[SR]-P-A-G-P-[AT]- [GR]-D-E-P-A-[EK].		O96029|Q4VXW5|Q96CM2|Q9BQW1|Q9H4H0|Q9H7J5|Q9NZT3|Q9NZT4	Silent	SNP	ENST00000290291.6	37	c.1686A>G	CCDS13504.1																																																																																				0.756	OGFR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080067.1			7	152	0	0	0	1	0	7	152				
PASK	23178	broad.mit.edu	37	2	242066535	242066535	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr2:242066535C>T	ENST00000405260.1	-	10	2493	c.1795G>A	c.(1795-1797)Ggt>Agt	p.G599S	PASK_ENST00000234040.4_Missense_Mutation_p.G599S|PASK_ENST00000403638.3_Missense_Mutation_p.G599S|PASK_ENST00000358649.4_Missense_Mutation_p.G599S|PASK_ENST00000544142.1_Missense_Mutation_p.G413S|PASK_ENST00000539818.1_Missense_Mutation_p.G383S	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	599					negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GCCAGCTGACCCTTGGCCTGG	0.667																																						ENST00000403638.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53						c.(1795-1797)Ggt>Agt		PAS domain containing serine/threonine kinase							31.0	37.0	35.0					2																	242066535		2201	4295	6496	SO:0001583	missense	23178				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr2:242066535C>T	U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.1795G>A	2.37:g.242066535C>T	ENSP00000384016:p.Gly599Ser					PASK_ENST00000544142.1_Missense_Mutation_p.G413S|PASK_ENST00000358649.4_Missense_Mutation_p.G599S|PASK_ENST00000539818.1_Missense_Mutation_p.G383S|PASK_ENST00000234040.4_Missense_Mutation_p.G599S|PASK_ENST00000405260.1_Missense_Mutation_p.G599S	p.G599S	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)	10	1886	-		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	599					G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Missense_Mutation	SNP	ENST00000405260.1	37	c.1795G>A	CCDS2545.1	.	.	.	.	.	.	.	.	.	.	C	12.68	2.009368	0.35415	.	.	ENSG00000115687	ENST00000234040;ENST00000544142;ENST00000405260;ENST00000358649;ENST00000539818;ENST00000403638	T;T;T;T;T;T	0.72167	-0.63;-0.62;-0.63;-0.58;-0.6;0.26	4.63	2.74	0.32292	.	0.226096	0.30732	N	0.008999	T	0.63307	0.2500	L	0.34521	1.04	0.09310	N	1	B;D;B;D;B	0.61697	0.214;0.99;0.319;0.977;0.214	B;P;B;P;B	0.51806	0.056;0.68;0.121;0.566;0.056	T	0.54316	-0.8312	10	0.49607	T	0.09	.	5.8111	0.18467	0.0:0.7558:0.0:0.2442	.	564;413;599;599;599	B7Z7R6;F5GYW7;Q96RG2-2;G5E9F1;Q96RG2	.;.;.;.;PASK_HUMAN	S	599;413;599;599;383;599	ENSP00000234040:G599S;ENSP00000441374:G413S;ENSP00000384016:G599S;ENSP00000351475:G599S;ENSP00000443083:G383S;ENSP00000384438:G599S	ENSP00000234040:G599S	G	-	1	0	PASK	241715208	0.000000	0.05858	0.033000	0.17914	0.044000	0.14063	0.026000	0.13599	1.211000	0.43351	0.561000	0.74099	GGT		0.667	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148		48	498	0	0	0	1	0	48	498				
LOC644669	644669	broad.mit.edu	37	18	15323340	15323340	+	RNA	SNP	A	A	G			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr18:15323340A>G	ENST00000455308.2	-	0	508				RNU6-721P_ENST00000410155.1_RNA	NR_027417.1																						CTTATGGCCAATAAAAGTGGT	0.299																																						ENST00000455308.2																			0																																																			0							g.chr18:15323340A>G																													18.37:g.15323340A>G								NR_027417.1						0	508	-									RNA	SNP	ENST00000455308.2	37																																																																																						0.299	AP005901.1-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373635.1			5	62	0	0	0	1	0	5	62				
MEGF8	1954	broad.mit.edu	37	19	42862961	42862961	+	Missense_Mutation	SNP	G	G	A	rs371976691		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr19:42862961G>A	ENST00000251268.6	+	30	5198	c.5198G>A	c.(5197-5199)cGt>cAt	p.R1733H	MEGF8_ENST00000334370.4_Missense_Mutation_p.R1666H	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1733					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				AGGAATGTGCGTGGCTCATCT	0.612																																						ENST00000334370.4																			0				breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(4996-4998)cGt>cAt		multiple EGF-like-domains 8		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	63.0	57.0	59.0		4997	0.5	0.0	19		59	0,8598		0,0,4299	no	missense	MEGF8	NM_001410.2	29	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	benign	1666/2779	42862961	1,13003	2203	4299	6502	SO:0001583	missense	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42862961G>A	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.5198G>A	19.37:g.42862961G>A	ENSP00000251268:p.Arg1733His					MEGF8_ENST00000251268.6_Missense_Mutation_p.R1733H	p.R1666H	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN			29	5632	+		Prostate(69;0.00682)	1733					A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	37	c.4997G>A		.	.	.	.	.	.	.	.	.	.	G	4.386	0.071245	0.08436	2.27E-4	0.0	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.21191	2.02;2.02	2.71	0.483	0.16820	Galactose oxidase/kelch, beta-propeller (1);	.	.	.	.	T	0.06735	0.0172	N	0.08118	0	0.09310	N	1	P;B	0.36660	0.564;0.127	B;B	0.26517	0.03;0.07	T	0.27706	-1.0066	9	0.21540	T	0.41	1.3309	3.1445	0.06467	0.1486:0.0:0.5888:0.2626	.	1733;1666	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	H	1666;1733	ENSP00000334219:R1666H;ENSP00000251268:R1733H	ENSP00000251268:R1733H	R	+	2	0	MEGF8	47554801	0.001000	0.12720	0.000000	0.03702	0.088000	0.18126	0.661000	0.25023	0.208000	0.20626	0.462000	0.41574	CGT		0.612	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		20	68	0	0	0	1	0	20	68				
FAM120C	54954	broad.mit.edu	37	X	54099471	54099471	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chrX:54099471C>A	ENST00000375180.2	-	16	3342	c.3286G>T	c.(3286-3288)Gac>Tac	p.D1096Y	FAM120C_ENST00000328235.4_3'UTR	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	1096							poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GCTTATCAGTCCTCTTTCCGT	0.418																																						ENST00000375180.2																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(3286-3288)Gac>Tac		family with sequence similarity 120C							235.0	186.0	203.0					X																	54099471		2203	4300	6503	SO:0001583	missense	54954							g.chrX:54099471C>A	AY150025	CCDS14356.1, CCDS55421.1, CCDS75987.1	Xp11.22	2011-04-13	2006-07-04	2006-07-04	ENSG00000184083	ENSG00000184083			16949	protein-coding gene	gene with protein product		300741	"""chromosome X open reading frame 17"""	CXorf17		14585507	Standard	XM_006724589		Approved	ORF34, FLJ20506	uc004dsz.4	Q9NX05	OTTHUMG00000021625	ENST00000375180.2:c.3286G>T	X.37:g.54099471C>A	ENSP00000364324:p.Asp1096Tyr					FAM120C_ENST00000328235.4_3'UTR	p.D1096Y	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN			16	3342	-			1096					B2RMT7	Missense_Mutation	SNP	ENST00000375180.2	37	c.3286G>T	CCDS14356.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.579228	0.46006	.	.	ENSG00000184083	ENST00000375180	T	0.24908	1.83	4.52	2.74	0.32292	.	0.372810	0.22141	N	0.064050	T	0.18509	0.0444	N	0.08118	0	0.80722	D	1	D	0.53885	0.963	P	0.50708	0.648	T	0.05131	-1.0904	10	0.87932	D	0	.	8.735	0.34523	0.0:0.7975:0.0:0.2025	.	1096	Q9NX05	F120C_HUMAN	Y	1096	ENSP00000364324:D1096Y	ENSP00000364324:D1096Y	D	-	1	0	FAM120C	54116196	0.994000	0.37717	0.837000	0.33122	0.604000	0.37047	1.002000	0.29796	0.434000	0.26340	-0.192000	0.12808	GAC		0.418	FAM120C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056795.2	NM_017848		231	816	1	0	8.35633e-98	1	9.07258e-98	231	816				
NACA	4666	broad.mit.edu	37	12	57111912	57111912	+	Silent	SNP	G	G	A	rs2926744		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr12:57111912G>A	ENST00000454682.1	-	3	3683	c.3402C>T	c.(3400-3402)ccC>ccT	p.P1134P	NACA_ENST00000393891.4_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1134	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						CTTTTGGGGAGGGAGGAGTTG	0.642			T	BCL6	NHL																																	ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(3400-3402)ccC>ccT		nascent polypeptide-associated complex alpha subunit							61.0	59.0	60.0					12																	57111912		1261	2772	4033	SO:0001819	synonymous_variant	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57111912G>A	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.3402C>T	12.37:g.57111912G>A						NACA_ENST00000548563.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000356769.3_Intron	p.P1134P	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	3683	-			0						Silent	SNP	ENST00000454682.1	37	c.3402C>T																																																																																					0.642	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		5	753	0	0	0	1	0	5	753				
C2	717	broad.mit.edu	37	6	31901955	31901955	+	Missense_Mutation	SNP	G	G	A	rs201130773		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr6:31901955G>A	ENST00000299367.5	+	6	1004	c.728G>A	c.(727-729)cGt>cAt	p.R243H	CFB_ENST00000556679.1_Intron|C2_ENST00000418949.2_Missense_Mutation_p.R243H|C2_ENST00000442278.2_Missense_Mutation_p.R111H|CFB_ENST00000456570.1_Intron|C2_ENST00000452323.2_Intron|C2_ENST00000469372.1_Intron|CFB_ENST00000477310.1_Intron	NM_000063.4	NP_000054.2	P06681	CO2_HUMAN	complement component 2	243					complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		AGCCTGGGCCGTAAAATCCAA	0.547													G|||	1	0.000199681	0.0	0.0	5008	,	,		19168	0.0		0.001	False		,,,				2504	0.0					ENST00000299367.5																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27						c.(727-729)cGt>cAt		complement component 2							108.0	113.0	112.0					6																	31901955		2203	4300	6503	SO:0001583	missense	717							g.chr6:31901955G>A		CCDS4728.1, CCDS54991.1, CCDS56416.1, CCDS75427.1, CCDS75428.1	6p21.3	2014-09-17			ENSG00000166278	ENSG00000166278		"""Complement system"""	1248	protein-coding gene	gene with protein product		613927					Standard	NM_001145903		Approved		uc011hbs.1	P06681	OTTHUMG00000031190	ENST00000299367.5:c.728G>A	6.37:g.31901955G>A	ENSP00000299367:p.Arg243His					C2_ENST00000418949.2_Missense_Mutation_p.R243H|C2_ENST00000442278.2_Missense_Mutation_p.R111H|C2_ENST00000469372.1_Intron|CFB_ENST00000477310.1_Intron|CFB_ENST00000556679.1_Intron|C2_ENST00000452323.2_Intron|CFB_ENST00000456570.1_Intron	p.R243H	NM_000063.4	NP_000054.2				LUAD - Lung adenocarcinoma(999;0.247)	6	1004	+		Ovarian(999;0.00965)						B4DPF3|B4DV20|E9PFN7|O19694|Q13904	Missense_Mutation	SNP	ENST00000299367.5	37	c.728G>A	CCDS4728.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	14.47	2.543921	0.45280	.	.	ENSG00000166278	ENST00000452202;ENST00000299367;ENST00000442278;ENST00000447952;ENST00000418949;ENST00000494905	T;T;T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21;-1.21;-1.21	5.46	5.46	0.80206	.	0.000000	0.38897	N	0.001530	D	0.86510	0.5950	.	.	.	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.996;0.97	D	0.87766	0.2602	9	0.87932	D	0	-14.0377	15.1563	0.72746	0.0:0.0:1.0:0.0	.	214;111;243;243	B4DV48;E9PFN7;P06681;Q8N6L6	.;.;CO2_HUMAN;.	H	120;243;111;181;243;102	ENSP00000406121:R120H;ENSP00000299367:R243H;ENSP00000395683:R111H;ENSP00000391354:R181H;ENSP00000406190:R243H;ENSP00000419048:R102H	ENSP00000299367:R243H	R	+	2	0	C2	32009934	0.998000	0.40836	0.954000	0.39281	0.776000	0.43924	4.689000	0.61723	2.726000	0.93360	0.655000	0.94253	CGT		0.547	C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076379.9			7	1076	0	0	0	1	0	7	1076				
NQO1	1728	broad.mit.edu	37	16	69752046	69752046	+	Missense_Mutation	SNP	C	C	T	rs541026990	byFrequency	TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr16:69752046C>T	ENST00000320623.5	-	3	794	c.283G>A	c.(283-285)Gca>Aca	p.A95T	NQO1_ENST00000439109.2_Missense_Mutation_p.A95T|NQO1_ENST00000564043.1_Missense_Mutation_p.A74T|NQO1_ENST00000379046.2_Missense_Mutation_p.A95T|NQO1_ENST00000379047.3_Missense_Mutation_p.A95T|NQO1_ENST00000561500.1_Missense_Mutation_p.A95T	NM_000903.2	NP_000894.1	P15559	NQO1_HUMAN	NAD(P)H dehydrogenase, quinone 1	95					aging (GO:0007568)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of catalytic activity (GO:0043086)|nitric oxide biosynthetic process (GO:0006809)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cellular amino acid metabolic process (GO:0006521)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|synaptic transmission, cholinergic (GO:0007271)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|NAD(P)H dehydrogenase (quinone) activity (GO:0003955)|poly(A) RNA binding (GO:0044822)|superoxide dismutase activity (GO:0004784)			autonomic_ganglia(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	10					Carboplatin(DB00958)|Cisplatin(DB00515)|Dicoumarol(DB00266)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|Menadione(DB00170)|Oxaliplatin(DB00526)|Vitamin E(DB00163)	ACAAGGTCTGCGGCTTCCAGC	0.488													C|||	3	0.000599042	0.0	0.0	5008	,	,		19199	0.0		0.0	False		,,,				2504	0.0031					ENST00000320623.5																			0				autonomic_ganglia(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	10						c.(283-285)Gca>Aca		NAD(P)H dehydrogenase, quinone 1	Dicumarol(DB00266)|Menadione(DB00170)						174.0	182.0	180.0					16																	69752046		2198	4300	6498	SO:0001583	missense	1728				nitric oxide biosynthetic process|regulation of cellular amino acid metabolic process|response to toxin|synaptic transmission, cholinergic|xenobiotic metabolic process	cytosol	coenzyme binding|cytochrome-b5 reductase activity|electron carrier activity|NAD(P)H dehydrogenase (quinone) activity	g.chr16:69752046C>T	M81600	CCDS10883.1, CCDS32471.1, CCDS32472.1, CCDS67067.1	16q12-q22	2012-10-02	2001-11-30	2001-12-07	ENSG00000181019	ENSG00000181019	1.6.5.2		2874	protein-coding gene	gene with protein product		125860	"""diaphorase (NADH/NADPH) (cytochrome b-5 reductase)"""	NMOR1, DIA4		2843525	Standard	NM_001286137		Approved	DHQU, QR1, DTD	uc002exp.3	P15559	OTTHUMG00000137575	ENST00000320623.5:c.283G>A	16.37:g.69752046C>T	ENSP00000319788:p.Ala95Thr					NQO1_ENST00000561500.1_Missense_Mutation_p.A95T|NQO1_ENST00000439109.2_Missense_Mutation_p.A95T|NQO1_ENST00000379046.2_Missense_Mutation_p.A95T|NQO1_ENST00000379047.3_Missense_Mutation_p.A95T|NQO1_ENST00000564043.1_Missense_Mutation_p.A74T	p.A95T	NM_000903.2	NP_000894.1	P15559	NQO1_HUMAN			3	794	-			95					B2R5Y9|B4DNM7|B7ZAD1|Q86UK1	Missense_Mutation	SNP	ENST00000320623.5	37	c.283G>A	CCDS10883.1	.	.	.	.	.	.	.	.	.	.	C	35	5.531448	0.96446	.	.	ENSG00000181019	ENST00000320623;ENST00000379047;ENST00000379046;ENST00000439109	T;T;T;T	0.18960	2.18;2.18;2.18;2.18	6.03	5.08	0.68730	Flavodoxin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.54367	0.1854	M	0.89715	3.055	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.992;0.996;0.999	T	0.64960	-0.6284	9	.	.	.	-7.291	15.2408	0.73468	0.0:0.9322:0.0:0.0678	.	95;95;95;95	B4DLR8;B4DNM7;B7ZAD1;P15559	.;.;.;NQO1_HUMAN	T	95	ENSP00000319788:A95T;ENSP00000368335:A95T;ENSP00000368334:A95T;ENSP00000398330:A95T	.	A	-	1	0	NQO1	68309547	1.000000	0.71417	0.989000	0.46669	0.973000	0.67179	5.380000	0.66202	1.562000	0.49601	0.655000	0.94253	GCA		0.488	NQO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268956.2			6	992	0	0	0	1	0	6	992				
RNF213	57674	broad.mit.edu	37	17	78343322	78343322	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr17:78343322C>T	ENST00000582970.1	+	45	12319	c.12176C>T	c.(12175-12177)gCc>gTc	p.A4059V	CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.A2132V|RNF213_ENST00000508628.2_Missense_Mutation_p.A4108V|CTD-2047H16.4_ENST00000575034.1_RNA	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4059					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)			GAAAAGCATGCCCGCTTCCGG	0.498																																						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.(12175-12177)gCc>gTc		ring finger protein 213							116.0	115.0	115.0					17																	78343322		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78343322C>T	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.12176C>T	17.37:g.78343322C>T	ENSP00000464087:p.Ala4059Val					RNF213_ENST00000336301.6_Missense_Mutation_p.A2132V|RNF213_ENST00000508628.2_Missense_Mutation_p.A4108V|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA	p.A4059V	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		45	12319	+	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.12176C>T	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.156124	0.57259	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.25085	1.82	5.22	4.23	0.50019	Zinc finger, RING/FYVE/PHD-type (1);	0.223032	0.45606	D	0.000343	T	0.24736	0.0600	L	0.56280	1.765	0.30288	N	0.790668	P;B	0.52316	0.952;0.174	B;B	0.41440	0.357;0.114	T	0.28870	-1.0030	10	0.59425	D	0.04	.	11.096	0.48145	0.0:0.8528:0.0:0.1472	.	4108;2132	C9JCP4;Q63HN8	.;RN213_HUMAN	V	4059;4108;2132	ENSP00000338218:A2132V	ENSP00000338218:A2132V	A	+	2	0	RNF213	75957917	1.000000	0.71417	0.971000	0.41717	0.894000	0.52154	4.258000	0.58822	2.603000	0.88011	0.650000	0.86243	GCC		0.498	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		5	659	0	0	0	1	0	5	659				
CNTNAP3B	728577	broad.mit.edu	37	9	43828154	43828154	+	Silent	SNP	T	T	C	rs140150445	byFrequency	TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr9:43828154T>C	ENST00000377564.3	+	9	1803	c.1410T>C	c.(1408-1410)gaT>gaC	p.D470D		NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	470	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						TGGTGGTGGATGATGACACAG	0.488													N|||	1183	0.236222	0.1959	0.2205	5008	,	,		7253	0.4127		0.2316	False		,,,				2504	0.1247					ENST00000377564.3																			0				central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						c.(1408-1410)gaT>gaC		contactin associated protein-like 3B																																				SO:0001819	synonymous_variant	728577				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr9:43828154T>C	BX538190	CCDS75836.1	9p12	2007-12-14			ENSG00000154529	ENSG00000154529			32035	protein-coding gene	gene with protein product						15820314	Standard	XM_006716853		Approved		uc004abr.1	Q96NU0	OTTHUMG00000013174	ENST00000377564.3:c.1410T>C	9.37:g.43828154T>C							p.D470D	NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN			9	1803	+			470			Laminin G-like 2.		B1B0V7|B1B0V8|B1B0V9|B1B0W0|B1B0X8|B1B162|Q4VXF0|Q9H7W3	Silent	SNP	ENST00000377564.3	37	c.1410T>C	CCDS55312.1	384	0.17582417582417584	58	0.11788617886178862	46	0.1270718232044199	151	0.263986013986014	129	0.17018469656992086	N	2.598	-0.293646	0.05568	.	.	ENSG00000154529	ENST00000377561	.	.	.	2.66	-2.45	0.06481	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.54753	P	1.6000000000016E-5	.	.	.	.	.	.	T	0.26052	-1.0114	3	.	.	.	.	8.7373	0.34537	0.0:0.505:0.0:0.495	.	.	.	.	T	519	.	.	M	+	2	0	CNTNAP3B	43768150	0.002000	0.14202	0.000000	0.03702	0.123000	0.20343	-1.157000	0.03157	-0.975000	0.03546	-2.339000	0.00246	ATG		0.488	CNTNAP3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036930.3			7	137	0	0	0	1	0	7	137				
PREX1	57580	broad.mit.edu	37	20	47309258	47309258	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr20:47309258G>A	ENST00000371941.3	-	8	1010	c.988C>T	c.(988-990)Cga>Tga	p.R330*	PREX1_ENST00000396220.1_Nonsense_Mutation_p.R330*	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	330	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GTGTTGATTCGACCCCTGAAG	0.577																																						ENST00000396220.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110						c.(988-990)Cga>Tga		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1							231.0	182.0	199.0					20																	47309258		2203	4300	6503	SO:0001587	stop_gained	57580				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr20:47309258G>A	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.988C>T	20.37:g.47309258G>A	ENSP00000361009:p.Arg330*					PREX1_ENST00000371941.3_Nonsense_Mutation_p.R330*	p.R330*			Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		8	1010	-			330			PH.		E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Nonsense_Mutation	SNP	ENST00000371941.3	37	c.988C>T	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	G	37	6.315272	0.97467	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	.	.	.	5.22	5.22	0.72569	.	0.000000	0.46145	U	0.000302	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.0674	0.64839	0.0:0.0:0.8494:0.1506	.	.	.	.	X	330	.	ENSP00000361009:R330X	R	-	1	2	PREX1	46742665	1.000000	0.71417	0.768000	0.31515	0.923000	0.55619	3.913000	0.56394	2.601000	0.87937	0.650000	0.86243	CGA		0.577	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		95	358	0	0	0	1	0	95	358				
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V	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>gTt		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>A	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>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	p.G12V	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>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	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		27	110	1	0	4.87955e-14	1	5.23372e-14	27	110				
KRTAP4-11	653240	broad.mit.edu	37	17	39274087	39274087	+	Missense_Mutation	SNP	G	G	C	rs141357429		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr17:39274087G>C	ENST00000391413.2	-	1	519	c.481C>G	c.(481-483)Ctg>Gtg	p.L161V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	161	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)		p.L161V(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ACTGGACGCAGGcagcagcag	0.657																																						ENST00000391413.2																			1	Substitution - Missense(1)	p.L161V(1)	prostate(1)	endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(481-483)Ctg>Gtg		keratin associated protein 4-11							17.0	21.0	20.0					17																	39274087		692	1589	2281	SO:0001583	missense	653240					keratin filament		g.chr17:39274087G>C	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.481C>G	17.37:g.39274087G>C	ENSP00000375232:p.Leu161Val						p.L161V	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	519	-		Breast(137;0.000496)	161			27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.481C>G	CCDS45675.1	249	0.11401098901098901	67	0.13617886178861788	40	0.11049723756906077	104	0.18181818181818182	38	0.05013192612137203	.	1.347	-0.592411	0.03799	.	.	ENSG00000212721	ENST00000391413	T	0.00614	6.21	4.35	0.986	0.19784	.	.	.	.	.	T	0.00012	0.0000	L	0.31752	0.955	0.80722	P	0.0	B	0.30068	0.267	B	0.18871	0.023	T	0.19063	-1.0317	8	0.11794	T	0.64	.	5.8913	0.18915	0.1751:0.0:0.6569:0.168	.	161	Q9BYQ6	KR411_HUMAN	V	161	ENSP00000375232:L161V	ENSP00000375232:L161V	L	-	1	2	KRTAP4-11	36527613	0.671000	0.27521	0.912000	0.35992	0.970000	0.65996	0.971000	0.29396	0.348000	0.23949	0.609000	0.83330	CTG		0.657	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			4	98	0	0	0	1	0	4	98				
NBPF15	284565	broad.mit.edu	37	1	148594439	148594439	+	Silent	SNP	A	A	G			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr1:148594439A>G	ENST00000369187.3	+	19	2301	c.1812A>G	c.(1810-1812)ttA>ttG	p.L604L	NBPF15_ENST00000442702.2_Silent_p.L604L	NM_173638.3	NP_775909.2	Q8N660	NBPFF_HUMAN	neuroblastoma breakpoint family, member 15	604	NBPF 6. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12	all_hematologic(923;0.032)					CTGAAGTCTTACAGGACTCAC	0.463																																						ENST00000442702.2																			0				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12						c.(1810-1812)ttA>ttG		neuroblastoma breakpoint family, member 15																																				SO:0001819	synonymous_variant	284565					cytoplasm		g.chr1:148594439A>G	BC023087	CCDS72852.1	1q21.1	2014-01-16			ENSG00000243452	ENSG00000266338		"""neuroblastoma breakpoint family"""	28791	protein-coding gene	gene with protein product		610414, 614005	"""neuroblastoma breakpoint family, member 16"""	NBPF16		16079250	Standard	NM_173638		Approved	MGC8902	uc001esc.2	Q8N660	OTTHUMG00000013634	ENST00000369187.3:c.1812A>G	1.37:g.148594439A>G						NBPF15_ENST00000369187.3_Silent_p.L604L	p.L604L	NM_001170755.1	NP_001164226.1	Q8N660	NBPFF_HUMAN			21	2879	+	all_hematologic(923;0.032)		604			NBPF 6.		Q3BBV9|Q8IX77	Silent	SNP	ENST00000369187.3	37	c.1812A>G	CCDS932.1																																																																																				0.463	NBPF15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038609.3	NM_173638		7	995	0	0	0	1	0	7	995				
KRTAP4-9	100132386	broad.mit.edu	37	17	39262015	39262015	+	Silent	SNP	T	T	C	rs376253266		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr17:39262015T>C	ENST00000391415.1	+	1	432	c.375T>C	c.(373-375)tgT>tgC	p.C125C		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	125	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						ccagctgctgtcgccccagct	0.662																																						ENST00000391415.1																			0				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						c.(373-375)tgT>tgC		keratin associated protein 4-9							16.0	22.0	20.0					17																	39262015		691	1590	2281	SO:0001819	synonymous_variant	100132386					keratin filament		g.chr17:39262015T>C	AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"""Keratin associated proteins"""	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.375T>C	17.37:g.39262015T>C							p.C125C	NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN			1	432	+			125			29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].			Silent	SNP	ENST00000391415.1	37	c.375T>C	CCDS54124.1																																																																																				0.662	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257688.1	NM_001146041		9	221	0	0	0	1	0	9	221				
CDC42BPG	55561	broad.mit.edu	37	11	64594614	64594614	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr11:64594614G>A	ENST00000342711.5	-	34	4296	c.4297C>T	c.(4297-4299)Cgc>Tgc	p.R1433C		NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						AGCTTGGAGCGCACAAAAGGG	0.652																																						ENST00000342711.5																			0				central_nervous_system(1)|lung(3)	4						c.(4297-4299)Cgc>Tgc		CDC42 binding protein kinase gamma (DMPK-like)							133.0	114.0	120.0					11																	64594614		2201	4297	6498	SO:0001583	missense	55561				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr11:64594614G>A	AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"""Pleckstrin homology (PH) domain containing"""	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.4297C>T	11.37:g.64594614G>A	ENSP00000345133:p.Arg1433Cys						p.R1433C	NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN			34	4296	-			1433						Missense_Mutation	SNP	ENST00000342711.5	37	c.4297C>T	CCDS31601.1	.	.	.	.	.	.	.	.	.	.	G	19.11	3.764319	0.69878	.	.	ENSG00000171219	ENST00000342711	T	0.76578	-1.03	4.72	4.72	0.59763	.	0.000000	0.43919	D	0.000518	D	0.87402	0.6168	M	0.82716	2.605	0.53688	D	0.99997	D	0.89917	1.0	D	0.91635	0.999	D	0.88618	0.3161	10	0.87932	D	0	.	10.7952	0.46455	0.0:0.0:0.8108:0.1892	.	1433	Q6DT37	MRCKG_HUMAN	C	1433	ENSP00000345133:R1433C	ENSP00000345133:R1433C	R	-	1	0	CDC42BPG	64351190	1.000000	0.71417	1.000000	0.80357	0.759000	0.43091	1.412000	0.34714	2.352000	0.79861	0.561000	0.74099	CGC		0.652	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	XM_290516		7	698	0	0	0	1	0	7	698				
GTF2IRD2P1	401375	broad.mit.edu	37	7	72657657	72657657	+	RNA	SNP	C	C	T			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr7:72657657C>T	ENST00000425256.1	-	0	2254									GTF2I repeat domain containing 2 pseudogene 1																		ttctggaattcggtcttgagt	0.488																																						ENST00000425256.1																			0																																																			0							g.chr7:72657657C>T	AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72657657C>T								NR_002164.1						0	2254	-									RNA	SNP	ENST00000425256.1	37																																																																																						0.488	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345921.1	NR_002164		6	673	0	0	0	1	0	6	673				
AKNA	80709	broad.mit.edu	37	9	117099578	117099578	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr9:117099578G>A	ENST00000307564.4	-	22	4237	c.4076C>T	c.(4075-4077)gCg>gTg	p.A1359V	AKNA_ENST00000374079.4_Missense_Mutation_p.A304V|AKNA_ENST00000374075.5_Missense_Mutation_p.A1278V|AKNA_ENST00000374088.3_Missense_Mutation_p.A1359V|AKNA_ENST00000492875.1_5'UTR|AKNA_ENST00000223791.3_Missense_Mutation_p.A819V	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	1359					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						TCCTGCAGGCGCATAGTACCT	0.637																																						ENST00000307564.4																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						c.(4075-4077)gCg>gTg		AT-hook transcription factor							39.0	42.0	41.0					9																	117099578		2203	4299	6502	SO:0001583	missense	80709				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr9:117099578G>A	AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.4076C>T	9.37:g.117099578G>A	ENSP00000303769:p.Ala1359Val					AKNA_ENST00000492875.1_5'UTR|AKNA_ENST00000374075.5_Missense_Mutation_p.A1278V|AKNA_ENST00000223791.3_Missense_Mutation_p.A819V|AKNA_ENST00000374079.4_Missense_Mutation_p.A304V|AKNA_ENST00000374088.3_Missense_Mutation_p.A1359V	p.A1359V	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN			22	4237	-			1359					Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Missense_Mutation	SNP	ENST00000307564.4	37	c.4076C>T	CCDS6805.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.39|12.39	1.924013|1.924013	0.34002|0.34002	.|.	.|.	ENSG00000106948|ENSG00000106948	ENST00000307564;ENST00000374079;ENST00000374088;ENST00000223791;ENST00000374075|ENST00000320310	T;T;T;T;T|.	0.24908|.	2.47;1.83;2.47;2.24;2.46|.	5.13|5.13	4.2|4.2	0.49525|0.49525	.|.	.|.	.|.	.|.	.|.	T|T	0.34774|0.34774	0.0909|0.0909	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	0.999999|0.999999	B;B|.	0.27117|.	0.105;0.168|.	B;B|.	0.21151|.	0.015;0.033|.	T|T	0.27434|0.27434	-1.0074|-1.0074	9|6	0.13108|0.87932	T|D	0.6|0	.|.	7.7356|7.7356	0.28812|0.28812	0.1261:0.0:0.8739:0.0|0.1261:0.0:0.8739:0.0	.|.	1359;1278|.	Q7Z591;Q7Z591-2|.	AKNA_HUMAN;.|.	V|C	1359;304;1359;819;1278|370	ENSP00000303769:A1359V;ENSP00000363192:A304V;ENSP00000363201:A1359V;ENSP00000223791:A819V;ENSP00000363188:A1278V|.	ENSP00000223791:A819V|ENSP00000314538:R370C	A|R	-|-	2|1	0|0	AKNA|AKNA	116139399|116139399	0.019000|0.019000	0.18553|0.18553	0.132000|0.132000	0.22025|0.22025	0.814000|0.814000	0.46013|0.46013	1.760000|1.760000	0.38430|0.38430	1.058000|1.058000	0.40530|0.40530	0.563000|0.563000	0.77884|0.77884	GCG|CGC		0.637	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053767.2	NM_030767		5	447	0	0	0	1	0	5	447				
ASL	435	broad.mit.edu	37	7	65557066	65557066	+	Missense_Mutation	SNP	G	G	A	rs200853731		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr7:65557066G>A	ENST00000304874.9	+	15	1238	c.1136G>A	c.(1135-1137)cGc>cAc	p.R379H	ASL_ENST00000395332.3_Missense_Mutation_p.R379H|ASL_ENST00000380839.4_Missense_Mutation_p.R353H|ASL_ENST00000395331.3_Missense_Mutation_p.R359H|ASL_ENST00000464970.1_3'UTR|AC068533.7_ENST00000450043.1_Silent_p.P147P	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase	379			R -> C (in ARGINSA; dbSNP:rs28940287). {ECO:0000269|PubMed:12408190}.		arginine biosynthetic process via ornithine (GO:0042450)|arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|internal protein amino acid acetylation (GO:0006475)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	argininosuccinate lyase activity (GO:0004056)	p.R379L(1)		breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	TACCTGGTCCGCAAAGGGGTA	0.637																																						ENST00000304874.9																			1	Substitution - Missense(1)	p.R379L(1)	lung(1)	breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18						c.(1135-1137)cGc>cAc		argininosuccinate lyase	L-Arginine(DB00125)						95.0	92.0	93.0					7																	65557066		2203	4300	6503	SO:0001583	missense	435				arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity	g.chr7:65557066G>A		CCDS5531.1, CCDS47597.1, CCDS47598.1	7q11.21	2012-10-02			ENSG00000126522	ENSG00000126522	4.3.2.1		746	protein-coding gene	gene with protein product		608310					Standard	NM_001024943		Approved		uc003tuo.3	P04424	OTTHUMG00000022876	ENST00000304874.9:c.1136G>A	7.37:g.65557066G>A	ENSP00000307188:p.Arg379His					ASL_ENST00000395332.3_Missense_Mutation_p.R379H|ASL_ENST00000395331.3_Missense_Mutation_p.R359H|AC068533.7_ENST00000450043.1_Silent_p.P147P|ASL_ENST00000464970.1_3'UTR|ASL_ENST00000380839.4_Missense_Mutation_p.R353H	p.R379H	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN			15	1238	+			379		R -> C (in ARGINSA; dbSNP:rs28940287).			E7EMI0|E9PE48|Q6LDS5|Q96HS2	Missense_Mutation	SNP	ENST00000304874.9	37	c.1136G>A	CCDS5531.1	.	.	.	.	.	.	.	.	.	.	g	27.0	4.786704	0.90367	.	.	ENSG00000126522	ENST00000304874;ENST00000380839;ENST00000395332;ENST00000395331	D;D;D;D	0.91464	-2.85;-2.85;-2.85;-2.85	5.5	4.63	0.57726	L-Aspartase-like (1);	0.000000	0.85682	D	0.000000	D	0.92909	0.7744	M	0.89601	3.045	0.58432	D	0.999999	P;P;B	0.42871	0.792;0.6;0.445	B;B;B	0.43838	0.433;0.077;0.102	D	0.93527	0.6866	10	0.87932	D	0	.	13.5557	0.61757	0.0753:0.0:0.9247:0.0	.	353;359;379	E9PE48;E7EMI0;P04424	.;.;ARLY_HUMAN	H	379;353;379;359	ENSP00000307188:R379H;ENSP00000370219:R353H;ENSP00000378741:R379H;ENSP00000378740:R359H	ENSP00000307188:R379H	R	+	2	0	ASL	65194501	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	4.997000	0.63921	1.327000	0.45338	0.491000	0.48974	CGC		0.637	ASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251695.2	NM_000048		6	697	0	0	0	1	0	6	697				
TRPM6	140803	broad.mit.edu	37	9	77354692	77354692	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr9:77354692G>A	ENST00000360774.1	-	34	5671	c.5434C>T	c.(5434-5436)Cgg>Tgg	p.R1812W	TRPM6_ENST00000376872.3_Missense_Mutation_p.R767W|TRPM6_ENST00000361255.3_Missense_Mutation_p.R1807W|TRPM6_ENST00000449912.2_Missense_Mutation_p.R1807W|TRPM6_ENST00000451710.3_Missense_Mutation_p.R1816W|TRPM6_ENST00000376871.3_Missense_Mutation_p.R649W|TRPM6_ENST00000376864.4_Missense_Mutation_p.R1816W	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1812	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TGCCATGTCCGCACAACCTCA	0.488																																						ENST00000451710.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						c.(5446-5448)Cgg>Tgg		transient receptor potential cation channel, subfamily M, member 6							147.0	146.0	146.0					9																	77354692		2203	4300	6503	SO:0001583	missense	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77354692G>A	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.5434C>T	9.37:g.77354692G>A	ENSP00000354006:p.Arg1812Trp					TRPM6_ENST00000449912.2_Missense_Mutation_p.R1807W|TRPM6_ENST00000376864.4_Missense_Mutation_p.R1816W|TRPM6_ENST00000376871.3_Missense_Mutation_p.R649W|TRPM6_ENST00000376872.3_Missense_Mutation_p.R767W|TRPM6_ENST00000361255.3_Missense_Mutation_p.R1807W|TRPM6_ENST00000360774.1_Missense_Mutation_p.R1812W	p.R1816W			Q9BX84	TRPM6_HUMAN			33	5683	-			1812			Alpha-type protein kinase.		Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.5446C>T	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.782492	0.49891	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000376871;ENST00000449912;ENST00000361255;ENST00000376870;ENST00000376864	T;T;T;T;T;T;T	0.07327	3.2;3.2;3.2;3.2;3.2;3.2;3.2	5.96	4.12	0.48240	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.422510	0.29410	N	0.012235	T	0.17831	0.0428	L	0.27053	0.805	0.27804	N	0.942373	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.996;0.995;0.995	D;D;D;P;B;B	0.74023	0.982;0.982;0.982;0.545;0.409;0.409	T	0.04191	-1.0970	10	0.72032	D	0.01	.	15.6115	0.76721	0.0:0.0:0.7486:0.2514	.	359;645;763;1812;1807;1807	Q9BX84-7;Q9BX84-6;Q9BX84-5;Q9BX84;Q9BX84-3;Q9BX84-2	.;.;.;TRPM6_HUMAN;.;.	W	1812;1816;767;649;1807;1807;358;1816	ENSP00000354006:R1812W;ENSP00000407341:R1816W;ENSP00000366068:R767W;ENSP00000366067:R649W;ENSP00000396672:R1807W;ENSP00000354962:R1807W;ENSP00000366060:R1816W	ENSP00000354006:R1812W	R	-	1	2	TRPM6	76544512	0.749000	0.28305	0.927000	0.36925	0.165000	0.22458	2.006000	0.40874	0.845000	0.35118	-0.953000	0.02652	CGG		0.488	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		8	664	0	0	0	1	0	8	664				
RANBP2	5903	broad.mit.edu	37	2	109371685	109371685	+	Missense_Mutation	SNP	A	A	T			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr2:109371685A>T	ENST00000283195.6	+	17	2562	c.2436A>T	c.(2434-2436)aaA>aaT	p.K812N		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	812					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CTTTACTGAAAATGATTTGCC	0.348																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(2434-2436)aaA>aaT		RAN binding protein 2							156.0	173.0	167.0					2																	109371685		2202	4299	6501	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109371685A>T	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.2436A>T	2.37:g.109371685A>T	ENSP00000283195:p.Lys812Asn						p.K812N	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			17	2562	+			812					Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.2436A>T	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	a	16.71	3.197492	0.58126	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.23147	1.92	5.8	5.8	0.92144	.	.	.	.	.	T	0.17066	0.0410	L	0.27053	0.805	0.33230	D	0.555798	P	0.38922	0.651	B	0.32677	0.15	T	0.24799	-1.0150	9	0.42905	T	0.14	-15.3403	11.2285	0.48899	0.929:0.0:0.071:0.0	.	812	P49792	RBP2_HUMAN	N	812	ENSP00000283195:K812N	ENSP00000283195:K812N	K	+	3	2	RANBP2	108738117	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.509000	0.53386	2.210000	0.71456	0.443000	0.29094	AAA		0.348	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		10	1102	0	0	0	1	0	10	1102				
CADM1	23705	broad.mit.edu	37	11	115080343	115080343	+	Silent	SNP	G	G	T			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr11:115080343G>T	ENST00000452722.3	-	8	1049	c.1029C>A	c.(1027-1029)acC>acA	p.T343T	CADM1_ENST00000536727.1_Intron|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000542447.2_Intron|CADM1_ENST00000331581.6_Silent_p.T343T|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_ENST00000542447.2_Intron|CADM1_ENST00000331581.6_Silent_p.T343T|CADM1_ENST00000452722.2_Silent_p.T343T|CADM1_ENST00000536727.1_Intron	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	362	1	0	5.9392e-07	1	6.1954e-07	6	362				
IGHV1OR15-9	390531	broad.mit.edu	37	15	20170018	20170018	+	RNA	SNP	C	C	G			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr15:20170018C>G	ENST00000338912.5	-	0	253									immunoglobulin heavy variable 1/OR15-9 (non-functional)									p.G85A(1)									GGTGACTCTGCCCTGGAACTT	0.547																																						ENST00000338912.5																			1	Substitution - Missense(1)	p.G85A(1)	lung(1)																	171.0	166.0	167.0					15																	20170018		2107	4229	6336			0							g.chr15:20170018C>G	L25542		15q11.1	2013-10-18	2008-08-22		ENSG00000188403	ENSG00000188403		"""Immunoglobulins / IGH orphons"""	5569	other	immunoglobulin gene			"""immunoglobulin heavy variable 1/OR15-9"", ""V-set and immunoglobulin domain containing 7"""	VSIG7		7959766	Standard	NG_032069		Approved	IGHV1/OR15-9, IGHV1OR159			OTTHUMG00000171652		15.37:g.20170018C>G														0	253	-									RNA	SNP	ENST00000338912.5	37																																																																																						0.547	IGHV1OR15-9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000414646.4			5	788	0	0	0	1	0	5	788				
TRIM58	25893	broad.mit.edu	37	1	248023988	248023988	+	Missense_Mutation	SNP	G	G	A	rs201462673		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr1:248023988G>A	ENST00000366481.3	+	2	538	c.490G>A	c.(490-492)Gtg>Atg	p.V164M		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	164						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.V164L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGAGGCCAACGTGGGGAAAAA	0.478													G|||	1	0.000199681	0.0	0.0	5008	,	,		19435	0.001		0.0	False		,,,				2504	0.0					ENST00000366481.3																			1	Substitution - Missense(1)	p.V164L(1)	lung(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63						c.(490-492)Gtg>Atg		tripartite motif containing 58		G	MET/VAL	0,4406		0,0,2203	106.0	105.0	106.0		490	2.1	0.4	1		106	3,8597	3.0+/-9.4	0,3,4297	no	missense	TRIM58	NM_015431.3	21	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign	164/487	248023988	3,13003	2203	4300	6503	SO:0001583	missense	25893					intracellular	zinc ion binding	g.chr1:248023988G>A	AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	24150	protein-coding gene	gene with protein product			"""tripartite motif-containing 58"""				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.490G>A	1.37:g.248023988G>A	ENSP00000355437:p.Val164Met						p.V164M	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		2	538	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	164					Q6B0H9	Missense_Mutation	SNP	ENST00000366481.3	37	c.490G>A	CCDS1636.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	2.615	-0.289792	0.05568	0.0	3.49E-4	ENSG00000162722	ENST00000366481	T	0.61510	0.1	4.02	2.13	0.27403	.	0.287861	0.24601	N	0.037136	T	0.43055	0.1230	L	0.46157	1.445	0.23210	N	0.998114	B	0.28512	0.214	B	0.17433	0.018	T	0.32981	-0.9886	10	0.49607	T	0.09	.	5.6579	0.17652	0.1092:0.2001:0.6907:0.0	.	164	Q8NG06	TRI58_HUMAN	M	164	ENSP00000355437:V164M	ENSP00000355437:V164M	V	+	1	0	TRIM58	246090611	0.045000	0.20229	0.400000	0.26346	0.001000	0.01503	0.046000	0.14035	0.467000	0.27218	-0.150000	0.13652	GTG		0.478	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096860.1	NM_015431		57	197	0	0	0	1	0	57	197				
FURIN	5045	broad.mit.edu	37	15	91420170	91420170	+	Silent	SNP	G	G	A			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr15:91420170G>A	ENST00000268171.3	+	5	696	c.417G>A	c.(415-417)gcG>gcA	p.A139A		NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)	139					cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of low-density lipoprotein particle receptor catabolic process (GO:0032804)|negative regulation of transforming growth factor beta1 production (GO:0032911)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-translational protein modification (GO:0043687)|protein processing (GO:0016485)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)|regulation of protein catabolic process (GO:0042176)|secretion by cell (GO:0032940)|signal peptide processing (GO:0006465)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|nerve growth factor binding (GO:0048406)|peptidase activity (GO:0008233)|peptide binding (GO:0042277)|protease binding (GO:0002020)|serine-type endopeptidase activity (GO:0004252)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			CGGCCTGGGCGCAGGGCTACA	0.567																																						ENST00000268171.3																			0				breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36						c.(415-417)gcG>gcA		furin (paired basic amino acid cleaving enzyme)							116.0	101.0	106.0					15																	91420170		2198	4298	6496	SO:0001819	synonymous_variant	5045				cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity	g.chr15:91420170G>A	X17094	CCDS10364.1	15q26.1	2007-01-24	2002-12-04	2002-12-06	ENSG00000140564	ENSG00000140564			8568	protein-coding gene	gene with protein product		136950	"""paired basic amino acid cleaving enzyme (furin, membrane associated receptor protein)"""	PCSK3, FUR, PACE		2251280, 1741956	Standard	NM_002569		Approved	SPC1	uc002bpu.1	P09958	OTTHUMG00000149831	ENST00000268171.3:c.417G>A	15.37:g.91420170G>A							p.A139A	NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	Lung(145;0.189)		5	696	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		139					Q14336|Q6LBS3|Q9UCZ5	Silent	SNP	ENST00000268171.3	37	c.417G>A	CCDS10364.1																																																																																				0.567	FURIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313492.1	NM_002569		5	618	0	0	0	1	0	5	618				
DNAH3	55567	broad.mit.edu	37	16	21011731	21011731	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr16:21011731C>T	ENST00000261383.3	-	43	6235	c.6236G>A	c.(6235-6237)gGc>gAc	p.G2079D	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2079	AAA 3. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GGCTGATTTGCCAGTGCCTGT	0.498																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(6235-6237)gGc>gAc		dynein, axonemal, heavy chain 3							217.0	180.0	192.0					16																	21011731		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21011731C>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.6236G>A	16.37:g.21011731C>T	ENSP00000261383:p.Gly2079Asp					DNAH3_ENST00000415178.1_3'UTR	p.G2079D	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	43	6235	-			2079			AAA 3 (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.6236G>A	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.032588	0.93575	.	.	ENSG00000158486	ENST00000261383	D	0.92099	-2.97	5.52	5.52	0.82312	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.98134	0.9384	H	0.99211	4.47	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99239	1.0884	10	0.87932	D	0	.	19.8041	0.96521	0.0:1.0:0.0:0.0	.	2079	Q8TD57	DYH3_HUMAN	D	2079	ENSP00000261383:G2079D	ENSP00000261383:G2079D	G	-	2	0	DNAH3	20919232	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.516000	0.81772	2.756000	0.94617	0.563000	0.77884	GGC		0.498	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		5	356	0	0	0	1	0	5	356				
FGF7	2252	broad.mit.edu	37	15	49776611	49776611	+	Silent	SNP	T	T	G			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr15:49776611T>G	ENST00000267843.4	+	4	1106	c.495T>G	c.(493-495)gtT>gtG	p.V165V	FAM227B_ENST00000561064.1_Intron|FAM227B_ENST00000299338.6_Intron|FGF7_ENST00000560704.1_3'UTR	NM_002009.3	NP_002000.1	P21781	FGF7_HUMAN	fibroblast growth factor 7	165					actin cytoskeleton reorganization (GO:0031532)|branching involved in salivary gland morphogenesis (GO:0060445)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis development (GO:0008544)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle morphogenesis (GO:0031069)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|mesenchymal cell proliferation (GO:0010463)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein localization to cell surface (GO:0034394)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|response to wounding (GO:0009611)|secretion by lung epithelial cell involved in lung growth (GO:0061033)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)	p.V165V(1)		kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		all_lung(180;0.00391)		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)		AAATGTTTGTTGCCTTAAATC	0.358																																						ENST00000267843.4																			1	Substitution - coding silent(1)	p.V165V(1)	lung(1)	kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						c.(493-495)gtT>gtG		fibroblast growth factor 7	Palifermin(DB00039)						38.0	37.0	38.0					15																	49776611		2027	3862	5889	SO:0001819	synonymous_variant	2252				actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth		chemoattractant activity|growth factor activity	g.chr15:49776611T>G	M60828	CCDS10131.1	15q21.2	2014-01-30	2010-08-18		ENSG00000140285	ENSG00000140285		"""Endogenous ligands"""	3685	protein-coding gene	gene with protein product	"""keratinocyte growth factor"""	148180	"""fibroblast growth factor 7 (keratinocyte growth factor)"""			7749227, 1409637	Standard	NM_002009		Approved	KGF	uc001zxn.3	P21781	OTTHUMG00000131517	ENST00000267843.4:c.495T>G	15.37:g.49776611T>G						FAM227B_ENST00000561064.1_Intron|FGF7_ENST00000560704.1_3'UTR|FAM227B_ENST00000299338.6_Intron	p.V165V	NM_002009.3	NP_002000.1	P21781	FGF7_HUMAN		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)	4	1106	+		all_lung(180;0.00391)	165					H0YNY5|Q6FGV5|Q96FG5	Silent	SNP	ENST00000267843.4	37	c.495T>G	CCDS10131.1																																																																																				0.358	FGF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254374.3	NM_002009		8	292	0	0	0	1	0	8	292				
C9orf139	401563	broad.mit.edu	37	9	139929395	139929395	+	Silent	SNP	C	C	T			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr9:139929395C>T	ENST00000314330.2	+	3	1976	c.462C>T	c.(460-462)tgC>tgT	p.C154C	FUT7_ENST00000314412.6_5'Flank|RP11-229P13.20_ENST00000457302.2_lincRNA	NM_207511.1	NP_997394.1	Q6ZV77	CI139_HUMAN	chromosome 9 open reading frame 139	154										cervix(1)|lung(2)	3	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.99e-05)|Epithelial(140;0.000493)		GGGGGTTTTGCCCAGAAATGG	0.622																																						ENST00000314330.2																			0				cervix(1)|lung(2)	3						c.(460-462)tgC>tgT		chromosome 9 open reading frame 139							40.0	51.0	47.0					9																	139929395		2201	4290	6491	SO:0001819	synonymous_variant	401563							g.chr9:139929395C>T		CCDS7023.1	9q34.3	2008-02-05			ENSG00000180539	ENSG00000180539			31426	protein-coding gene	gene with protein product							Standard	NM_207511		Approved	FLJ36268, FLJ42909	uc004ckp.1	Q6ZV77	OTTHUMG00000020959	ENST00000314330.2:c.462C>T	9.37:g.139929395C>T							p.C154C	NM_207511.1	NP_997394.1	Q6ZV77	CI139_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.99e-05)|Epithelial(140;0.000493)	3	1976	+	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0821)	154					A2RUA3|B9EGW2|Q5SPY0|Q8N224	Silent	SNP	ENST00000314330.2	37	c.462C>T	CCDS7023.1																																																																																				0.622	C9orf139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055213.2	NM_207511		5	535	0	0	0	1	0	5	535				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522727	95522727	+	RNA	SNP	C	C	A	rs201214605		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr2:95522727C>A	ENST00000432432.2	-	0	300					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene									p.R64L(2)									CTGCTTGTCCCGGGCGTCCAG	0.731																																						ENST00000432432.2																			2	Substitution - Missense(2)	p.R64L(2)	lung(1)|kidney(1)																																																0							g.chr2:95522727C>A			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.95522727C>A								NR_040113.1						0	300	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.731	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			7	240	1	0	7.93312e-07	1	8.24301e-07	7	240				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-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)	p.Q269Q(15)		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						gctgctgctgctgttgttgtt	0.537																																						ENST00000374796.2																			15	Substitution - coding silent(15)	p.Q269Q(15)	lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)	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.(805-807)caG>caA		nuclear receptor coactivator 6							64.0	52.0	56.0					20																	33345744		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.chr20:33345744C>T	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.807G>A	20.37:g.33345744C>T						NCOA6_ENST00000359003.2_Silent_p.Q269Q	p.Q269Q			Q14686	NCOA6_HUMAN			8	3377	-			269			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.807G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		6	338	0	0	0	1	0	6	338				
ADAMTS4	9507	broad.mit.edu	37	1	161167857	161167857	+	Silent	SNP	G	G	T			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr1:161167857G>T	ENST00000367996.5	-	1	989	c.561C>A	c.(559-561)gcC>gcA	p.A187A	ADAMTS4_ENST00000367995.3_Silent_p.A187A|NDUFS2_ENST00000367993.3_5'Flank|ADAMTS4_ENST00000478394.1_5'Flank	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	187					defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		Tinzaparin(DB06822)	CTTGACCGCTGGCAGGACTCT	0.632																																						ENST00000367996.4																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43						c.(559-561)gcC>gcA		ADAM metallopeptidase with thrombospondin type 1 motif, 4							62.0	61.0	61.0					1																	161167857		2203	4300	6503	SO:0001819	synonymous_variant	9507				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding	g.chr1:161167857G>T	AB014588	CCDS1223.1	1q31-q32	2008-02-05	2005-08-19		ENSG00000158859	ENSG00000158859		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	220	protein-coding gene	gene with protein product		603876	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4"""			10094461	Standard	NM_005099		Approved	KIAA0688, ADAMTS-2, ADMP-1	uc001fyt.4	O75173	OTTHUMG00000034349	ENST00000367996.5:c.561C>A	1.37:g.161167857G>T						ADAMTS4_ENST00000367995.3_Silent_p.A187A	p.A187A	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		1	989	-	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		187					Q5VTW2|Q6P4Q8|Q6UWA8|Q9UN83	Silent	SNP	ENST00000367996.5	37	c.561C>A	CCDS1223.1																																																																																				0.632	ADAMTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083066.2	NM_005099		117	396	1	0	3.68091e-61	1	3.98017e-61	117	396				
C1QTNF7	114905	broad.mit.edu	37	4	15444203	15444203	+	Missense_Mutation	SNP	G	G	A	rs150953206	byFrequency	TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr4:15444203G>A	ENST00000444304.2	+	3	976	c.650G>A	c.(649-651)cGg>cAg	p.R217Q	C1QTNF7_ENST00000295297.4_Missense_Mutation_p.R224Q|C1QTNF7_ENST00000429690.1_Missense_Mutation_p.R217Q			Q9BXJ2	C1QT7_HUMAN	C1q and tumor necrosis factor related protein 7	217	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				protein homooligomerization (GO:0051260)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)				endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	16						GGGCAATACCGGATAAAGACC	0.458													G|||	4	0.000798722	0.0	0.0	5008	,	,		20002	0.0		0.0	False		,,,				2504	0.0041					ENST00000295297.4																			0				endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	16						c.(670-672)cGg>cAg		C1q and tumor necrosis factor related protein 7		G	GLN/ARG,GLN/ARG,GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	116.0	120.0	119.0		671,650,650	3.9	1.0	4	dbSNP_134	119	5,8595	4.3+/-15.6	0,5,4295	yes	missense,missense,missense	C1QTNF7	NM_001135170.1,NM_001135171.1,NM_031911.4	43,43,43	0,7,6496	AA,AG,GG		0.0581,0.0454,0.0538	possibly-damaging,possibly-damaging,possibly-damaging	224/297,217/290,217/290	15444203	7,12999	2203	4300	6503	SO:0001583	missense	114905					collagen		g.chr4:15444203G>A	AF329839	CCDS3414.1, CCDS47025.1	4p15.3	2008-08-29			ENSG00000163145	ENSG00000163145			14342	protein-coding gene	gene with protein product							Standard	NM_001135170		Approved	CTRP7	uc003gnp.3	Q9BXJ2	OTTHUMG00000097095	ENST00000444304.2:c.650G>A	4.37:g.15444203G>A	ENSP00000388914:p.Arg217Gln					C1QTNF7_ENST00000429690.1_Missense_Mutation_p.R217Q|C1QTNF7_ENST00000444304.2_Missense_Mutation_p.R217Q	p.R224Q	NM_001135170.1	NP_001128642.1	Q9BXJ2	C1QT7_HUMAN			3	930	+			217			C1q.		B2RBT3|J3KPW3	Missense_Mutation	SNP	ENST00000444304.2	37	c.671G>A	CCDS3414.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.276090	0.59649	4.54E-4	5.81E-4	ENSG00000163145	ENST00000295297;ENST00000429690;ENST00000444304	T;T;T	0.74947	-0.89;-0.89;-0.89	5.91	3.88	0.44766	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.208186	0.40469	N	0.001094	T	0.59487	0.2197	L	0.27975	0.815	0.40721	D	0.982661	P	0.42993	0.797	B	0.39531	0.302	T	0.59257	-0.7488	9	.	.	.	.	10.9568	0.47362	0.2194:0.0:0.7806:0.0	.	217	Q9BXJ2	C1QT7_HUMAN	Q	224;217;217	ENSP00000295297:R224Q;ENSP00000410722:R217Q;ENSP00000388914:R217Q	.	R	+	2	0	C1QTNF7	15053301	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.162000	0.58177	1.505000	0.48720	0.655000	0.94253	CGG		0.458	C1QTNF7-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000250891.2			6	835	0	0	0	1	0	6	835				
EPB41L3	23136	broad.mit.edu	37	18	5416153	5416153	+	Silent	SNP	C	C	T			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr18:5416153C>T	ENST00000341928.2	-	13	2071	c.1731G>A	c.(1729-1731)caG>caA	p.Q577Q	EPB41L3_ENST00000427684.2_Intron|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000342933.3_Silent_p.Q577Q|EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000540638.2_Intron	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	577	Spectrin--actin-binding. {ECO:0000255}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TGCCAGTTTGCTGTCTGTAGC	0.572																																						ENST00000341928.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(1729-1731)caG>caA		erythrocyte membrane protein band 4.1-like 3							106.0	97.0	100.0					18																	5416153		2203	4300	6503	SO:0001819	synonymous_variant	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5416153C>T	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.1731G>A	18.37:g.5416153C>T						EPB41L3_ENST00000342933.3_Silent_p.Q577Q|EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000427684.2_Intron	p.Q577Q	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN			13	2071	-			577			Spectrin--actin-binding (Potential).		B7Z4I5|F5GX05|O95713|Q9BRP5	Silent	SNP	ENST00000341928.2	37	c.1731G>A	CCDS11838.1																																																																																				0.572	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		6	531	0	0	0	1	0	6	531				
SIN3A	25942	broad.mit.edu	37	15	75684712	75684712	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr15:75684712G>A	ENST00000394947.3	-	15	3036	c.2722C>T	c.(2722-2724)Cgg>Tgg	p.R908W	SIN3A_ENST00000360439.4_Missense_Mutation_p.R908W|SIN3A_ENST00000394949.4_Missense_Mutation_p.R908W	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						GAACAAATCCGTAGCAGCCTC	0.453																																						ENST00000394947.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						c.(2722-2724)Cgg>Tgg		SIN3 transcription regulator family member A							132.0	126.0	128.0					15																	75684712		2197	4294	6491	SO:0001583	missense	25942				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding	g.chr15:75684712G>A	AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"""SIN3 homolog A, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog A (yeast)"""			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.2722C>T	15.37:g.75684712G>A	ENSP00000378402:p.Arg908Trp					SIN3A_ENST00000394949.4_Missense_Mutation_p.R908W|SIN3A_ENST00000360439.4_Missense_Mutation_p.R908W	p.R908W	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN			15	3036	-			908						Missense_Mutation	SNP	ENST00000394947.3	37	c.2722C>T	CCDS10279.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.178429	0.78564	.	.	ENSG00000169375	ENST00000394947;ENST00000394949;ENST00000360439	T;T;T	0.47528	0.84;0.84;0.84	5.6	4.61	0.57282	.	0.000000	0.85682	D	0.000000	T	0.63757	0.2538	L	0.56769	1.78	0.80722	D	1	D	0.76494	0.999	D	0.66602	0.945	T	0.66712	-0.5854	10	0.72032	D	0.01	-24.3297	16.3591	0.83246	0.0:0.0:0.8595:0.1405	.	908	Q96ST3	SIN3A_HUMAN	W	908	ENSP00000378402:R908W;ENSP00000378403:R908W;ENSP00000353622:R908W	ENSP00000353622:R908W	R	-	1	2	SIN3A	73471765	1.000000	0.71417	0.994000	0.49952	0.958000	0.62258	3.068000	0.50018	2.644000	0.89710	0.655000	0.94253	CGG		0.453	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286469.1	NM_015477		5	654	0	0	0	1	0	5	654				
FLG	2312	broad.mit.edu	37	1	152278047	152278047	+	Silent	SNP	G	G	A	rs200815866	byFrequency	TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr1:152278047G>A	ENST00000368799.1	-	3	9350	c.9315C>T	c.(9313-9315)taC>taT	p.Y3105Y	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3105	Ser-rich.		Y -> D (in dbSNP:rs2065958).		establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCCTGACCGTATTGGGATG	0.602									Ichthyosis				g|||	19	0.00379393	0.0	0.0086	5008	,	,		12362	0.0079		0.001	False		,,,				2504	0.0041					ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(9313-9315)taC>taT		filaggrin		C		0,3880		0,0,1940	201.0	257.0	239.0		9315	-8.4	0.0	1		239	3,8431		0,3,4214	no	coding-synonymous	FLG	NM_002016.1		0,3,6154	AA,AG,GG		0.0356,0.0,0.0244		3105/4062	152278047	3,12311	1940	4217	6157	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152278047G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.9315C>T	1.37:g.152278047G>A						FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.Y3105Y	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	9350	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3105		Y -> D (in dbSNP:rs2065958).	Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.9315C>T	CCDS30860.1																																																																																				0.602	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		7	1212	0	0	0	1	0	7	1212				
ARHGEF7	8874	broad.mit.edu	37	13	111862267	111862267	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr13:111862267G>A	ENST00000375741.2	+	5	699	c.449G>A	c.(448-450)cGc>cAc	p.R150H	ARHGEF7_ENST00000375739.2_Missense_Mutation_p.R100H|ARHGEF7_ENST00000218789.5_5'UTR|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.R129H|ARHGEF7_ENST00000426073.2_5'UTR|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.R47H|ARHGEF7_ENST00000375736.4_5'UTR|ARHGEF7_ENST00000370623.3_Intron|ARHGEF7_ENST00000544132.1_Intron|ARHGEF7_ENST00000375723.1_5'UTR	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	150					apoptotic signaling pathway (GO:0097190)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|hematopoietic progenitor cell differentiation (GO:0002244)|lamellipodium assembly (GO:0030032)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of GTPase activity (GO:0043547)|positive regulation of lamellipodium morphogenesis (GO:2000394)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase binding (GO:0019901)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			TCGTCTCACCGCATAAAGTCT	0.517																																						ENST00000375741.2																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41						c.(448-450)cGc>cAc		Rho guanine nucleotide exchange factor (GEF) 7							184.0	178.0	180.0					13																	111862267		2203	4300	6503	SO:0001583	missense	8874				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr13:111862267G>A	D63476	CCDS9521.1, CCDS32009.1, CCDS45068.1, CCDS45069.1	13q33.3	2013-01-10			ENSG00000102606	ENSG00000102606		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	15607	protein-coding gene	gene with protein product	"""SH3 domain-containing proline-rich protein"", ""PAK-interacting exchange factor beta"", ""rho"", ""guanine nucleotide exchange factor 7"""	605477				9207241, 9726964	Standard	NM_003899		Approved	KIAA0142, PIXB, DKFZp761K1021, Nbla10314, DKFZp686C12170, BETA-PIX, COOL1, P85SPR, P85, P85COOL1, P50BP, PAK3, P50	uc001vrs.2	Q14155	OTTHUMG00000017357	ENST00000375741.2:c.449G>A	13.37:g.111862267G>A	ENSP00000364893:p.Arg150His					ARHGEF7_ENST00000218789.5_5'UTR|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.R129H|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.R47H|ARHGEF7_ENST00000426073.2_5'UTR|ARHGEF7_ENST00000370623.3_Intron|ARHGEF7_ENST00000375723.1_5'UTR|ARHGEF7_ENST00000375736.4_5'UTR|ARHGEF7_ENST00000544132.1_Intron|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.R100H	p.R150H	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.188)		5	699	+	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		150					B1ALK6|B1ALK8|Q3LIA4|Q5W9H0|Q6P9G3|Q6PII2|Q86W63|Q8N3M1	Missense_Mutation	SNP	ENST00000375741.2	37	c.449G>A	CCDS45068.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.152947	0.57259	.	.	ENSG00000102606	ENST00000317133;ENST00000375741;ENST00000375739;ENST00000545635;ENST00000426768;ENST00000375737	T;T;T;T;T	0.53206	0.64;0.63;0.67;0.85;0.65	5.39	5.39	0.77823	Calponin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.58148	0.2102	L	0.29908	0.895	0.80722	D	1	B;D;P;P	0.76494	0.016;0.999;0.597;0.719	B;D;B;B	0.65010	0.014;0.931;0.047;0.148	T	0.60717	-0.7208	10	0.66056	D	0.02	.	19.5049	0.95111	0.0:0.0:1.0:0.0	.	47;100;150;129	B7Z6G2;Q14155-2;Q14155;Q14155-3	.;.;ARHG7_HUMAN;.	H	129;150;100;127;47;47	ENSP00000325994:R129H;ENSP00000364893:R150H;ENSP00000364891:R100H;ENSP00000389890:R47H;ENSP00000364889:R47H	ENSP00000325994:R129H	R	+	2	0	ARHGEF7	110660268	1.000000	0.71417	0.691000	0.30163	0.414000	0.31173	8.953000	0.93041	2.677000	0.91161	0.655000	0.94253	CGC		0.517	ARHGEF7-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001113511		10	1188	0	0	0	1	0	10	1188				
KRTAP1-1	81851	broad.mit.edu	37	17	39197304	39197304	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr17:39197304T>C	ENST00000306271.4	-	1	409	c.346A>G	c.(346-348)Atc>Gtc	p.I116V		NM_030967.2	NP_112229.1	Q07627	KRA11_HUMAN	keratin associated protein 1-1	116						keratin filament (GO:0045095)		p.I116V(1)		NS(2)|endometrium(2)|kidney(5)|lung(4)|prostate(1)	14		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			CACCACCTGATACGGGTGCTC	0.662																																						ENST00000306271.4																			1	Substitution - Missense(1)	p.I116V(1)	NS(1)	NS(2)|endometrium(2)|kidney(5)|lung(4)|prostate(1)	14						c.(346-348)Atc>Gtc		keratin associated protein 1-1							22.0	27.0	25.0					17																	39197304		2019	4148	6167	SO:0001583	missense	81851					extracellular region|keratin filament		g.chr17:39197304T>C	AJ406926	CCDS42324.1	17q21.2	2014-06-05			ENSG00000188581	ENSG00000188581		"""Keratin associated proteins"""	16772	protein-coding gene	gene with protein product		608819				11279113	Standard	NM_030967		Approved	KAP1.1B, HB2A, KAP1.1, KAP1.1A	uc002hvw.1	Q07627	OTTHUMG00000133592	ENST00000306271.4:c.346A>G	17.37:g.39197304T>C	ENSP00000305975:p.Ile116Val						p.I116V	NM_030967.2	NP_112229.1	Q07627	KRA11_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	409	-		Breast(137;0.000496)	116					A6NC32|Q96S60|Q96S67	Missense_Mutation	SNP	ENST00000306271.4	37	c.346A>G	CCDS42324.1	.	.	.	.	.	.	.	.	.	.	T	8.173	0.792133	0.16258	.	.	ENSG00000188581	ENST00000306271;ENST00000543328	T	0.29655	1.56	4.28	-1.23	0.09465	.	.	.	.	.	T	0.12135	0.0295	N	0.03253	-0.375	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.34079	-0.9843	9	0.20046	T	0.44	.	9.4726	0.38851	0.0:0.573:0.0:0.427	.	116	Q07627	KRA11_HUMAN	V	116;106	ENSP00000305975:I116V	ENSP00000305975:I116V	I	-	1	0	KRTAP1-1	36450830	0.132000	0.22450	0.024000	0.17045	0.516000	0.34256	0.017000	0.13399	-0.199000	0.10317	0.529000	0.55759	ATC		0.662	KRTAP1-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257696.1	NM_030967		5	221	0	0	0	1	0	5	221				
PRKAG3	53632	broad.mit.edu	37	2	219691687	219691687	+	Missense_Mutation	SNP	G	G	A	rs376397046		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr2:219691687G>A	ENST00000529249.1	-	10	1447	c.1132C>T	c.(1132-1134)Cgg>Tgg	p.R378W	PRKAG3_ENST00000545803.1_Missense_Mutation_p.R194W|PRKAG3_ENST00000392098.3_3'UTR|PRKAG3_ENST00000439262.2_Missense_Mutation_p.R353W			Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	378	CBS 3. {ECO:0000255|PROSITE- ProRule:PRU00703}.				cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|protein phosphorylation (GO:0006468)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)	AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|protein kinase binding (GO:0019901)			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Acetylsalicylic acid(DB00945)	GACACACGCCGGTCCACAAAG	0.602																																						ENST00000439262.2																			0				large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(1057-1059)Cgg>Tgg		protein kinase, AMP-activated, gamma 3 non-catalytic subunit		G	TRP/ARG	0,4406		0,0,2203	91.0	85.0	87.0		1132	5.8	1.0	2		87	1,8599	1.2+/-3.3	0,1,4299	no	missense	PRKAG3	NM_017431.2	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	378/490	219691687	1,13005	2203	4300	6503	SO:0001583	missense	53632				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding	g.chr2:219691687G>A	AF214519	CCDS2424.1	2q35	2012-09-20			ENSG00000115592	ENSG00000115592			9387	protein-coding gene	gene with protein product		604976				10818001	Standard	NM_017431		Approved		uc002vjb.1	Q9UGI9	OTTHUMG00000133078	ENST00000529249.1:c.1132C>T	2.37:g.219691687G>A	ENSP00000436068:p.Arg378Trp					PRKAG3_ENST00000545803.1_Missense_Mutation_p.R194W|PRKAG3_ENST00000392098.3_3'UTR|PRKAG3_ENST00000529249.1_Missense_Mutation_p.R378W	p.R353W	NM_017431.2	NP_059127.2	Q9UGI9	AAKG3_HUMAN		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	10	1152	-		Renal(207;0.0474)	378					Q4QQG8|Q4V779|Q9NRL1	Missense_Mutation	SNP	ENST00000529249.1	37	c.1057C>T	CCDS2424.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.389513	0.82902	0.0	1.16E-4	ENSG00000115592	ENST00000439262;ENST00000545803;ENST00000529249	D;D;D	0.93811	-3.29;-3.29;-3.29	5.77	5.77	0.91146	Cystathionine beta-synthase, core (3);	0.000000	0.85682	D	0.000000	D	0.96629	0.8900	M	0.83118	2.625	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96766	0.9565	10	0.87932	D	0	-20.4027	13.8848	0.63702	0.0:0.0:0.8478:0.1522	.	378	Q9UGI9	AAKG3_HUMAN	W	353;194;378	ENSP00000397133:R353W;ENSP00000444536:R194W;ENSP00000436068:R378W	ENSP00000233944:R378W	R	-	1	2	PRKAG3	219399931	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.979000	0.49313	2.729000	0.93468	0.655000	0.94253	CGG		0.602	PRKAG3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385992.1			5	516	0	0	0	1	0	5	516				
TPTE2P6	374491	broad.mit.edu	37	13	25161397	25161397	+	RNA	SNP	C	C	G	rs3874227	byFrequency	TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr13:25161397C>G	ENST00000453498.1	+	0	921				TPTE2P6_ENST00000440905.1_RNA																							TGAAACATCTCTACAACTGGA	0.343																																						ENST00000453498.1																			0																																																			0							g.chr13:25161397C>G																													13.37:g.25161397C>G														0	921	+									RNA	SNP	ENST00000453498.1	37																																																																																						0.343	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			19	284	0	0	0	1	0	19	284				
ZNF845	91664	broad.mit.edu	37	19	53856730	53856730	+	Silent	SNP	G	G	A	rs201351032	byFrequency	TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr19:53856730G>A	ENST00000595091.1	+	5	3021	c.2802G>A	c.(2800-2802)aaG>aaA	p.K934K	ZNF845_ENST00000458035.1_Silent_p.K934K			Q96IR2	ZN845_HUMAN	zinc finger protein 845	934					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K934K(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TAATTCATAAGACAATTCATA	0.368													.|||	271	0.0541134	0.0507	0.0576	5008	,	,		22260	0.0456		0.0924	False		,,,				2504	0.0256					ENST00000458035.1																			3	Substitution - coding silent(3)	p.K934K(3)	kidney(3)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(2800-2802)aaG>aaA		zinc finger protein 845																																				SO:0001819	synonymous_variant	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53856730G>A	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2802G>A	19.37:g.53856730G>A						ZNF845_ENST00000595091.1_Silent_p.K934K	p.K934K	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	2919	+			934						Silent	SNP	ENST00000595091.1	37	c.2802G>A	CCDS46170.1																																																																																				0.368	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		6	130	0	0	0	1	0	6	130				
FRG1B	284802	broad.mit.edu	37	20	29614328	29614328	+	Splice_Site	SNP	G	G	A	rs200267032		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr20:29614328G>A	ENST00000278882.3	+	2	320		c.e2+1		FRG1B_ENST00000439954.2_Splice_Site|FRG1B_ENST00000358464.4_Splice_Site			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B											endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TGATACGTTGGTGAGTCAGTT	0.289																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.e2+1																																						SO:0001630	splice_region_variant	0							g.chr20:29614328G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.-61+1G>A	20.37:g.29614328G>A						FRG1B_ENST00000358464.4_Splice_Site|FRG1B_ENST00000439954.2_Splice_Site								2	320	+								C4AME5	Splice_Site	SNP	ENST00000278882.3	37																																																																																						0.289	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579	Intron	4	154	0	0	0	1	0	4	154				
LYG1	129530	broad.mit.edu	37	2	99907775	99907775	+	Silent	SNP	G	G	A			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr2:99907775G>A	ENST00000409448.1	-	6	574	c.258C>T	c.(256-258)atC>atT	p.I86I	LYG1_ENST00000308528.4_Silent_p.I86I			Q8N1E2	LYG1_HUMAN	lysozyme G-like 1	86					cell wall macromolecule catabolic process (GO:0016998)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						AGACACCAGCGATCACGGCAG	0.488																																						ENST00000409448.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						c.(256-258)atC>atT		lysozyme G-like 1							177.0	145.0	156.0					2																	99907775		2203	4300	6503	SO:0001819	synonymous_variant	129530				cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity	g.chr2:99907775G>A	BC029126	CCDS2043.1	2q11.2	2008-02-05			ENSG00000144214	ENSG00000144214			27014	protein-coding gene	gene with protein product						12574869	Standard	NM_174898		Approved	SALW1939	uc002szy.3	Q8N1E2	OTTHUMG00000130639	ENST00000409448.1:c.258C>T	2.37:g.99907775G>A						LYG1_ENST00000308528.4_Silent_p.I86I	p.I86I			Q8N1E2	LYG1_HUMAN			6	574	-			86					Q53RV9	Silent	SNP	ENST00000409448.1	37	c.258C>T	CCDS2043.1																																																																																				0.488	LYG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330315.1	NM_174898		98	296	0	0	0	1	0	98	296				
MLLT3	4300	broad.mit.edu	37	9	20414346	20414346	+	Silent	SNP	G	G	A			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr9:20414346G>A	ENST00000380338.4	-	5	784	c.498C>T	c.(496-498)agC>agT	p.S166S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S163S|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	166	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S166S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.527			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		4	Substitution - coding silent(4)	p.S166S(4)	urinary_tract(2)|lung(1)|prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(496-498)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							8.0	15.0	13.0					9																	20414346		1434	3114	4548	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414346G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.498C>T	9.37:g.20414346G>A						MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S163S	p.S166S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	784	-			166			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.498C>T	CCDS6494.1																																																																																				0.527	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		7	315	0	0	0	1	0	7	315				
ZNF610	162963	broad.mit.edu	37	19	52869863	52869863	+	Missense_Mutation	SNP	G	G	A	rs150692972		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr19:52869863G>A	ENST00000403906.3	+	6	1688	c.1232G>A	c.(1231-1233)cGc>cAc	p.R411H	ZNF610_ENST00000601151.1_Missense_Mutation_p.R368H|ZNF610_ENST00000327920.8_Missense_Mutation_p.R411H|ZNF610_ENST00000321287.8_Missense_Mutation_p.R411H	NM_001161425.1	NP_001154897.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	411					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		GTCTTTGGGCGCAAATTATAC	0.423													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19080	0.0		0.0	False		,,,				2504	0.0					ENST00000601151.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34						c.(1102-1104)cGc>cAc		zinc finger protein 610		G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	58.0	55.0	56.0		1232,1232,1103,1232	-3.8	0.0	19	dbSNP_134	56	0,8600		0,0,4300	no	missense,missense,missense,missense	ZNF610	NM_001161425.1,NM_001161426.1,NM_001161427.1,NM_173530.2	29,29,29,29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign,benign,benign,benign	411/463,411/463,368/420,411/463	52869863	2,13004	2203	4300	6503	SO:0001583	missense	162963				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52869863G>A	AK093359	CCDS12851.1, CCDS54309.1	19q13.41	2013-01-08			ENSG00000167554	ENSG00000167554		"""Zinc fingers, C2H2-type"", ""-"""	26687	protein-coding gene	gene with protein product						12477932	Standard	NM_001161425		Approved	FLJ36040	uc002pyx.4	Q8N9Z0		ENST00000403906.3:c.1232G>A	19.37:g.52869863G>A	ENSP00000383922:p.Arg411His					ZNF610_ENST00000321287.8_Missense_Mutation_p.R411H|ZNF610_ENST00000403906.3_Missense_Mutation_p.R411H|ZNF610_ENST00000327920.8_Missense_Mutation_p.R411H	p.R368H	NM_001161427.1	NP_001154899.1	Q8N9Z0	ZN610_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)	5	1555	+			411					A8K4C3|Q86YH8|Q8NDS9	Missense_Mutation	SNP	ENST00000403906.3	37	c.1103G>A	CCDS12851.1	.	.	.	.	.	.	.	.	.	.	G	1.007	-0.688972	0.03328	4.54E-4	0.0	ENSG00000167554	ENST00000403906;ENST00000321287;ENST00000327920	T;T	0.07327	3.2;3.2	1.88	-3.76	0.04359	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03827	0.0108	L	0.39020	1.185	0.09310	N	1	B;B	0.29378	0.205;0.243	B;B	0.11329	0.004;0.006	T	0.44847	-0.9301	9	0.10636	T	0.68	.	0.1648	0.00107	0.3126:0.152:0.2481:0.2874	.	368;411	Q8N9Z0-2;Q8N9Z0	.;ZN610_HUMAN	H	411;368;411	ENSP00000383922:R411H;ENSP00000327597:R411H	ENSP00000324441:R368H	R	+	2	0	ZNF610	57561675	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.844000	0.04345	-2.397000	0.00581	-1.058000	0.02302	CGC		0.423	ZNF610-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462880.1	NM_173530		5	419	0	0	0	1	0	5	419				
ASB2	51676	broad.mit.edu	37	14	94417346	94417346	+	Splice_Site	SNP	G	G	A			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr14:94417346G>A	ENST00000315988.4	-	4	1223	c.735C>T	c.(733-735)taC>taT	p.Y245Y	ASB2_ENST00000555019.1_Splice_Site_p.Y293Y|MIR4506_ENST00000584693.1_RNA|ASB2_ENST00000556337.1_Intron	NM_016150.4	NP_057234.2	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	245					intracellular signal transduction (GO:0035556)|myoblast differentiation (GO:0045445)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)	Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		GCCACTCACCGTACTTGGCTA	0.577																																						ENST00000555019.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27						c.e6+1		ankyrin repeat and SOCS box containing 2							222.0	216.0	218.0					14																	94417346		2203	4300	6503	SO:0001630	splice_region_variant	51676				intracellular signal transduction			g.chr14:94417346G>A	AF159164	CCDS9915.1, CCDS55940.1	14q31-q32	2013-01-10	2011-01-25					"""Ankyrin repeat domain containing"""	16012	protein-coding gene	gene with protein product		605759	"""ankyrin repeat and SOCS box-containing 2"""				Standard	NM_016150		Approved	ASB-2	uc001ycd.3	Q96Q27		ENST00000315988.4:c.736+1C>T	14.37:g.94417346G>A						ASB2_ENST00000315988.4_Splice_Site_p.Y245_splice|ASB2_ENST00000556337.1_Intron	p.Y293_splice	NM_001202429.1	NP_001189358.1	Q96Q27	ASB2_HUMAN		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)	6	1309	-		all_cancers(154;0.13)	245					B2RDP9|B4E166|Q9NSU5|Q9Y567	Splice_Site	SNP	ENST00000315988.4	37	c.880_splice	CCDS9915.1																																																																																				0.577	ASB2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412845.1		Silent	8	1504	0	0	0	1	0	8	1504				
ATXN10	25814	broad.mit.edu	37	22	46098600	46098600	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr22:46098600G>A	ENST00000252934.5	+	5	785	c.520G>A	c.(520-522)Gtt>Att	p.V174I	ATXN10_ENST00000498009.1_3'UTR|ATXN10_ENST00000381061.4_Missense_Mutation_p.V110I	NM_013236.3	NP_037368.1	Q9UBB4	ATX10_HUMAN	ataxin 10	174					cell death (GO:0008219)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	10		Ovarian(80;0.00973)|all_neural(38;0.0417)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)		CAAAAAAATTGTTGCCTACTC	0.323																																						ENST00000252934.5																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	10						c.(520-522)Gtt>Att		ataxin 10							101.0	94.0	96.0					22																	46098600		2203	4300	6503	SO:0001583	missense	25814				cell death|neuron projection development	dendrite|neuronal cell body|perinuclear region of cytoplasm		g.chr22:46098600G>A	AK095309	CCDS14070.1, CCDS54540.1	22q13	2013-02-15	2004-08-12	2004-08-12	ENSG00000130638	ENSG00000130638		"""Ataxins"""	10549	protein-coding gene	gene with protein product		611150	"""spinocerebellar ataxia 10"""	SCA10		9973298	Standard	NM_013236		Approved	E46L, FLJ37990	uc003bgm.2	Q9UBB4	OTTHUMG00000150451	ENST00000252934.5:c.520G>A	22.37:g.46098600G>A	ENSP00000252934:p.Val174Ile					ATXN10_ENST00000498009.1_3'UTR|ATXN10_ENST00000381061.4_Missense_Mutation_p.V110I	p.V174I	NM_013236.3	NP_037368.1	Q9UBB4	ATX10_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)	5	785	+		Ovarian(80;0.00973)|all_neural(38;0.0417)	174					A6NLC4|B4DG05|O14998|O15009|Q6I9X4	Missense_Mutation	SNP	ENST00000252934.5	37	c.520G>A	CCDS14070.1	.	.	.	.	.	.	.	.	.	.	G	18.73	3.687268	0.68157	.	.	ENSG00000130638	ENST00000381061;ENST00000252934;ENST00000396011	T;T	0.50277	0.75;0.75	5.9	5.9	0.94986	Armadillo-like helical (1);Armadillo-type fold (1);	0.059143	0.64402	D	0.000002	T	0.38772	0.1053	N	0.20986	0.625	0.53005	D	0.999969	P;P	0.45176	0.73;0.852	B;B	0.41299	0.353;0.243	T	0.09773	-1.0659	10	0.28530	T	0.3	-9.6916	19.2565	0.93948	0.0:0.0:1.0:0.0	.	110;174	A6NLC4;Q9UBB4	.;ATX10_HUMAN	I	110;174;174	ENSP00000370449:V110I;ENSP00000252934:V174I	ENSP00000252934:V174I	V	+	1	0	ATXN10	44477264	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	2.370000	0.44240	2.800000	0.96347	0.591000	0.81541	GTT		0.323	ATXN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318142.2	NM_013236		94	273	0	0	0	1	0	94	273				
ZBTB40	9923	broad.mit.edu	37	1	22838561	22838563	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr1:22838561_22838563delAAG	ENST00000375647.4	+	11	2602_2604	c.2395_2397delAAG	c.(2395-2397)aagdel	p.K803del	ZBTB40_ENST00000374651.4_In_Frame_Del_p.K691del|ZBTB40_ENST00000404138.1_In_Frame_Del_p.K803del	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	803					bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		CGATGCCCCCAAGAAGAAGAAGA	0.517																																						ENST00000404138.1																			0				endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(2395-2397)del		zinc finger and BTB domain containing 40																																				SO:0001651	inframe_deletion	9923				bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:22838561_22838563delAAG	AB007947	CCDS224.1	1p36	2013-01-08			ENSG00000184677	ENSG00000184677		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	29045	protein-coding gene	gene with protein product		612106					Standard	NM_014870		Approved	KIAA0478, ZNF923	uc001bfu.2	Q9NUA8	OTTHUMG00000002897	ENST00000375647.4:c.2395_2397delAAG	1.37:g.22838570_22838572delAAG	ENSP00000364798:p.Lys803del					ZBTB40_ENST00000375647.4_In_Frame_Del_p.K803del|ZBTB40_ENST00000374651.4_In_Frame_Del_p.K691del	p.K803del	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)	12	2906_2908	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	803					O75066|Q5TFU5|Q8N1R1	In_Frame_Del	DEL	ENST00000375647.4	37	c.2395_2397delAAG	CCDS224.1																																																																																				0.517	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008094.1	NM_014870		11	378						11	378	---	---	---	---
CNKSR1	10256	broad.mit.edu	37	1	26514778	26514778	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr1:26514778delC	ENST00000374253.5	+	17	1568	c.1529delC	c.(1528-1530)gccfs	p.A510fs	CNKSR1_ENST00000531191.1_Frame_Shift_Del_p.A245fs|CNKSR1_ENST00000361530.6_Frame_Shift_Del_p.A503fs|CATSPER4_ENST00000456354.2_5'Flank	NM_006314.2	NP_006305.2	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	510					Ras protein signal transduction (GO:0007265)|Rho protein signal transduction (GO:0007266)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|plasma membrane (GO:0005886)	protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGGCCGGGCCCCCCCACCC	0.607																																					NSCLC(180;1396 2109 28270 30756 34275)	ENST00000531191.1																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28						c.(733-735)gcfs		connector enhancer of kinase suppressor of Ras 1							62.0	64.0	64.0					1																	26514778		2203	4300	6503	SO:0001589	frameshift_variant	10256				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging	g.chr1:26514778delC	AF100153	CCDS276.1, CCDS72732.1	1p35.3	2013-01-10			ENSG00000142675	ENSG00000142675		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19700	protein-coding gene	gene with protein product		603272				9814705	Standard	NM_006314		Approved	CNK1, KSR, CNK	uc001blm.4	Q969H4	OTTHUMG00000007541	ENST00000374253.5:c.1529delC	1.37:g.26514778delC	ENSP00000363371:p.Ala510fs					CNKSR1_ENST00000361530.6_Frame_Shift_Del_p.A503fs|CNKSR1_ENST00000374253.5_Frame_Shift_Del_p.A510fs	p.A245fs			Q969H4	CNKR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)	16	1741	+		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	510			PDZ.		B1AMW9|O95381	Frame_Shift_Del	DEL	ENST00000374253.5	37	c.734delC																																																																																					0.607	CNKSR1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000089943.2	NM_006314		7	391						7	391	---	---	---	---
PHACTR4	65979	broad.mit.edu	37	1	28800272	28800273	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr1:28800272_28800273insC	ENST00000373839.3	+	7	1291_1292	c.1030_1031insC	c.(1030-1032)tccfs	p.S344fs	PHACTR4_ENST00000373836.3_Frame_Shift_Ins_p.S354fs|PHACTR4_ENST00000493669.1_3'UTR	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	344	Pro-rich.				actin cytoskeleton organization (GO:0030036)|closure of optic fissure (GO:0061386)|enteric nervous system development (GO:0048484)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of catalytic activity (GO:0043085)|regulation of cell cycle (GO:0051726)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)	actin binding (GO:0003779)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase type 1 activator activity (GO:0071862)	p.P356fs*33(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TCGCTCTCCGTCCCCCCCACTG	0.515																																						ENST00000373839.3																			1	Deletion - Frameshift(1)	p.P356fs*33(1)	ovary(1)	NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32						c.(1030-1032)cccfs		phosphatase and actin regulator 4																																				SO:0001589	frameshift_variant	65979						actin binding|protein phosphatase inhibitor activity	g.chr1:28800272_28800273insC	AF130081	CCDS41293.1, CCDS41294.1	1p35.2	2014-06-13			ENSG00000204138	ENSG00000204138		"""Phosphatase and actin regulators"""	25793	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 124"""	608726				11483580, 15107502	Standard	NM_023923		Approved	FLJ13171, PPP1R124	uc001bpy.3	Q8IZ21	OTTHUMG00000003541	ENST00000373839.3:c.1037dupC	1.37:g.28800279_28800279dupC	ENSP00000362945:p.Ser344fs					PHACTR4_ENST00000373836.3_Frame_Shift_Ins_p.P354fs|PHACTR4_ENST00000493669.1_3'UTR	p.P344fs	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)	7	1291_1292	+		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)	344			Pro-rich.		A2APK6|B9ZVW0|D3DPM3|Q68DD4|Q6NUN6|Q8N384|Q9H395|Q9H6X0|Q9H8W6	Frame_Shift_Ins	INS	ENST00000373839.3	37	c.1030_1031insC	CCDS41293.1																																																																																				0.515	PHACTR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009868.4	NM_023923		12	1079						12	1079	---	---	---	---
BRDT	676	broad.mit.edu	37	1	92447228	92447230	+	In_Frame_Del	DEL	AGC	AGC	-	rs375773077		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr1:92447228_92447230delAGC	ENST00000362005.3	+	13	2336_2338	c.1918_1920delAGC	c.(1918-1920)agcdel	p.S648del	BRDT_ENST00000399546.2_In_Frame_Del_p.S648del|BRDT_ENST00000402388.1_In_Frame_Del_p.S648del|BRDT_ENST00000394530.3_In_Frame_Del_p.S602del|BRDT_ENST00000370389.2_In_Frame_Del_p.S575del	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	648	Ser-rich.				cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		ACTGAGTGAGagcagcagcagca	0.419																																						ENST00000370389.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56						c.(1699-1701)del		bromodomain, testis-specific																																				SO:0001651	inframe_deletion	676				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	g.chr1:92447228_92447230delAGC	AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"""cancer/testis antigen 9"""	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.1918_1920delAGC	1.37:g.92447237_92447239delAGC	ENSP00000354568:p.Ser648del					BRDT_ENST00000402388.1_In_Frame_Del_p.S648del|BRDT_ENST00000362005.3_In_Frame_Del_p.S648del|BRDT_ENST00000399546.2_In_Frame_Del_p.S648del|BRDT_ENST00000394530.3_In_Frame_Del_p.S602del	p.S575del	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN		all cancers(265;0.0228)|Epithelial(280;0.133)	12	2623_2625	+		all_lung(203;0.00531)|Lung NSC(277;0.0194)	648					A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	In_Frame_Del	DEL	ENST00000362005.3	37	c.1699_1701delAGC	CCDS735.1																																																																																				0.419	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027980.2	NM_207189		8	342						8	342	---	---	---	---
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121116645	121116645	+	lincRNA	DEL	T	T	-	rs377003181		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr1:121116645delT	ENST00000437515.1	-	0	329					NR_104189.1																						CAAGCCCCCCTTTAAAAAAAA	0.393																																						ENST00000437515.1																			0																																																			0							g.chr1:121116645delT																													1.37:g.121116645delT														0	329	-									RNA	DEL	ENST00000437515.1	37																																																																																						0.393	RP11-343N15.1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000098477.2			17	196						17	196	---	---	---	---
LOC101927209	101927209	broad.mit.edu	37	1	142720897	142720898	+	lincRNA	INS	-	-	A	rs112730110|rs374883772	byFrequency	TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr1:142720897_142720898insA	ENST00000610091.1	-	0	204_205																											GCTCTTCCTCTAAGCCACTGGT	0.277													|||unknown(NO_COVERAGE)	2342	0.467652	0.2436	0.7118	5008	,	,		10169	0.4038		0.666	False		,,,				2504	0.4591					ENST00000595144.1																			0																																																			0							g.chr1:142720897_142720898insA																													1.37:g.142720899_142720899dupA														0	204_205	-									RNA	INS	ENST00000610091.1	37																																																																																						0.277	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			20	120						20	120	---	---	---	---
RP11-782C8.1	0	broad.mit.edu	37	1	143217265	143217266	+	lincRNA	INS	-	-	A	rs200536781		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr1:143217265_143217266insA	ENST00000438000.1	+	0	59																											GTTAGTAAAGCAAAAAAAAAAC	0.282																																						ENST00000438000.1																			0																																																			0							g.chr1:143217265_143217266insA																													1.37:g.143217275_143217275dupA														0	59	+									RNA	INS	ENST00000438000.1	37																																																																																						0.282	RP11-782C8.1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037560.1			10	49						10	49	---	---	---	---
SEC22B	9554	broad.mit.edu	37	1	145109975	145109976	+	RNA	INS	-	-	C	rs376446977|rs11458983		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr1:145109975_145109976insC	ENST00000453618.1	+	0	673							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											CAGGAACTTTGCTAAAGATCTA	0.386																																						ENST00000453618.1																			0													SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)																																						9554				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding	g.chr1:145109975_145109976insC	AF047442		1q21.1	2012-04-20	2010-03-12	2006-04-25	ENSG00000223380				10700	protein-coding gene	gene with protein product		604029	"""SEC22, vesicle trafficking protein (S. cerevisiae)-like 1"", ""SEC22 vesicle trafficking protein-like 1 (S. cerevisiae)"", ""SEC22 vesicle trafficking protein homolog B (S. cerevisiae)"""	SEC22L1		9094723, 16354670	Standard	NM_004892		Approved	sec22b, ERS-24	uc031poa.1	O75396	OTTHUMG00000013745		1.37:g.145109976_145109976dupC										O75396	SC22B_HUMAN			0	673	+								A8K1G0	RNA	INS	ENST00000453618.1	37																																																																																						0.386	SEC22B-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000038523.5	NM_004892		6	13						6	13	---	---	---	---
ANKRD35	148741	broad.mit.edu	37	1	145562117	145562117	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr1:145562117delA	ENST00000355594.4	+	10	1892	c.1805delA	c.(1804-1806)gaafs	p.E602fs		NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	602										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTTGGAGGGGAAAAGGCCCTA	0.577																																					Melanoma(9;127 754 22988 51047)	ENST00000355594.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47						c.(1804-1806)gafs		ankyrin repeat domain 35							35.0	44.0	41.0					1																	145562117		2202	4300	6502	SO:0001589	frameshift_variant	148741							g.chr1:145562117delA	AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"""Ankyrin repeat domain containing"""	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.1805delA	1.37:g.145562117delA	ENSP00000347802:p.Glu602fs						p.E602fs	NM_144698.3	NP_653299.3	Q8N283	ANR35_HUMAN			10	1892	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		602					A6NEU0|B4DL62|Q3MJ10|Q96LS3	Frame_Shift_Del	DEL	ENST00000355594.4	37	c.1805delA	CCDS919.1																																																																																				0.577	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038515.1	NM_144698		7	533						7	533	---	---	---	---
LINGO4	339398	broad.mit.edu	37	1	151773603	151773603	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr1:151773603delA	ENST00000368820.3	-	2	2515	c.1578delT	c.(1576-1578)tttfs	p.F526fs	RP11-98D18.17_ENST00000601909.1_lincRNA	NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	526						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TGCTATCCAGAAAAAAAGGCC	0.582																																						ENST00000368820.3																			0				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(1576-1578)ttfs		leucine rich repeat and Ig domain containing 4							131.0	137.0	135.0					1																	151773603		2203	4300	6503	SO:0001589	frameshift_variant	339398					integral to membrane		g.chr1:151773603delA		CCDS30855.1	1q21.3	2013-01-11	2007-02-01	2007-02-01	ENSG00000213171	ENSG00000213171		"""Immunoglobulin superfamily / I-set domain containing"""	31814	protein-coding gene	gene with protein product		609794	"""leucine rich repeat neuronal 6D"""	LRRN6D			Standard	NM_001004432		Approved		uc001ezf.1	Q6UY18	OTTHUMG00000013059	ENST00000368820.3:c.1578delT	1.37:g.151773603delA	ENSP00000357810:p.Phe526fs						p.F526fs	NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		2	2515	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		526						Frame_Shift_Del	DEL	ENST00000368820.3	37	c.1578delT	CCDS30855.1																																																																																				0.582	LINGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036639.1	XM_291387		12	1203						12	1203	---	---	---	---
KCNN3	3782	broad.mit.edu	37	1	154842199	154842200	+	In_Frame_Ins	INS	-	-	GCTGCT	rs56352724|rs3831942|rs367921715|rs58327065		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr1:154842199_154842200insGCTGCT	ENST00000271915.4	-	1	556_557	c.241_242insAGCAGC	c.(241-243)cca>cAGCAGCca	p.80_81insQQ	KCNN3_ENST00000358505.2_5'Flank	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	80	Gln-rich.		Missing.		potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)	p.Q80_P81insQQ(2)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	GGGATGCGGTGgctgctgctgc	0.698																																						ENST00000271915.3																			2	Insertion - In frame(2)	p.Q80_P81insQQ(2)	prostate(2)	cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28						c.(241-243)acc>AGCAGCacc		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3																																				SO:0001652	inframe_insertion	3782					integral to membrane	calmodulin binding	g.chr1:154842199_154842200insGCTGCT	AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.236_241dupAGCAGC	1.37:g.154842200_154842205dupGCTGCT	ENSP00000271915:p.Gln79_Gln80dup						p.80_81insSS	NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00819)		1	556_557	-	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		80			Poly-Gln.		B1ANX0|O43517|Q86VF9|Q8WXG7	In_Frame_Ins	INS	ENST00000271915.4	37	c.241_242insAGCAGC	CCDS30880.1																																																																																				0.698	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249		12	49						12	49	---	---	---	---
NES	10763	broad.mit.edu	37	1	156642804	156642804	+	Frame_Shift_Del	DEL	G	G	-	rs372020167		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr1:156642804delG	ENST00000368223.3	-	4	1308	c.1176delC	c.(1174-1176)cccfs	p.P392fs		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	392	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCTGAGGTGTGGGGGGGATGG	0.597																																						ENST00000368223.3																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64						c.(1174-1176)ccfs		nestin							74.0	93.0	86.0					1																	156642804		2203	4299	6502	SO:0001589	frameshift_variant	10763				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity	g.chr1:156642804delG	X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.1176delC	1.37:g.156642804delG	ENSP00000357206:p.Pro392fs						p.P392fs	NM_006617.1	NP_006608.1	P48681	NEST_HUMAN			4	1308	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		392			Tail.		O00552|Q3LIF5|Q5SYZ6	Frame_Shift_Del	DEL	ENST00000368223.3	37	c.1176delC	CCDS1151.1																																																																																				0.597	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		7	1416						7	1416	---	---	---	---
GPR25	2848	broad.mit.edu	37	1	200842776	200842778	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr1:200842776_200842778delTGC	ENST00000304244.2	+	1	694_696	c.611_613delTGC	c.(610-615)ttgctg>ttg	p.204_205LL>L		NM_005298.2	NP_005289.2	O00155	GPR25_HUMAN	G protein-coupled receptor 25	204	Poly-Leu.				G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						GGCCTCAGCTTGCTGCTGCTGCT	0.724																																						ENST00000304244.2																			0				large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						c.(610-615)ttg>t		G protein-coupled receptor 25				110,4002		8,94,1954						2.2	1.0			14	235,7753		17,201,3776	no	coding	GPR25	NM_005298.2		25,295,5730	A1A1,A1R,RR		2.9419,2.6751,2.8512				345,11755				SO:0001651	inframe_deletion	2848					integral to plasma membrane		g.chr1:200842776_200842778delTGC	U91939	CCDS1405.1	1q32.1	2012-08-21			ENSG00000170128	ENSG00000170128		"""GPCR / Class A : Orphans"""	4480	protein-coding gene	gene with protein product		602174				9020062	Standard	NM_005298		Approved		uc001gvn.2	O00155	OTTHUMG00000035788	ENST00000304244.2:c.611_613delTGC	1.37:g.200842785_200842787delTGC	ENSP00000301917:p.Leu209del						p.LL208del	NM_005298.2	NP_005289.2	O00155	GPR25_HUMAN			1	694_696	+			208			Poly-Leu.		A0AVJ5	In_Frame_Del	DEL	ENST00000304244.2	37	c.611_613delTGC	CCDS1405.1																																																																																				0.724	GPR25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087056.1	NM_005298		8	170						8	170	---	---	---	---
CPSF3	51692	broad.mit.edu	37	2	9595887	9595888	+	Splice_Site	DEL	GT	GT	-			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr2:9595887_9595888delGT	ENST00000238112.3	+	13	1809		c.e13+1		CPSF3_ENST00000460593.1_Splice_Site	NM_016207.3	NP_057291.1	Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3, 73kDa						gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)|ribonucleoprotein complex (GO:0030529)	5'-3' exonuclease activity (GO:0008409)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		AAATTGACAGGTGTGTGTGTGT	0.366																																					Colon(194;1259 2048 3845 5218 19985)	ENST00000460593.1																			0				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.e13+1		cleavage and polyadenylation specific factor 3, 73kDa																																				SO:0001630	splice_region_variant	51692				histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex	5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding	g.chr2:9595887_9595888delGT	AF171877	CCDS1664.1	2p25.1	2009-01-06	2002-08-29		ENSG00000119203	ENSG00000119203			2326	protein-coding gene	gene with protein product		606029	"""cleavage and polyadenylation specific factor 3, 73kD subunit"""			8929409	Standard	NM_016207		Approved	CPSF-73, CPSF73, YSH1	uc002qzo.2	Q9UKF6	OTTHUMG00000090415	ENST00000238112.3:c.1603+1GT>-	2.37:g.9595897_9595898delGT						CPSF3_ENST00000238112.3_Splice_Site				Q9UKF6	CPSF3_HUMAN		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)	13	2630	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)						O14769|Q53RS2|Q96F36	Splice_Site	DEL	ENST00000238112.3	37		CCDS1664.1																																																																																				0.366	CPSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206843.1	NM_016207	Intron	7	304						7	304	---	---	---	---
OTOF	9381	broad.mit.edu	37	2	26693554	26693556	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	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_ENST00000339598.3_In_Frame_Del_p.K543del|OTOF_ENST00000402415.3_In_Frame_Del_p.K620del|OTOF_ENST00000403946.3_In_Frame_Del_p.K1310del	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_ENST00000339598.3_In_Frame_Del_p.K543del|OTOF_ENST00000403946.3_In_Frame_Del_p.K1310del|OTOF_ENST00000338581.6_In_Frame_Del_p.K543del	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			10	486						10	486	---	---	---	---
C2orf71	388939	broad.mit.edu	37	2	29295647	29295649	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr2:29295647_29295649delTCC	ENST00000331664.5	-	1	1478_1480	c.1479_1481delGGA	c.(1477-1482)gaggaa>gaa	p.493_494EE>E		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	493					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CATTTTGTCTTCCTCCTCCTCCT	0.542																																						ENST00000331664.5																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						c.(1477-1482)gaa>ga		chromosome 2 open reading frame 71																																				SO:0001651	inframe_deletion	388939				response to stimulus|visual perception	photoreceptor outer segment		g.chr2:29295647_29295649delTCC		CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.1479_1481delGGA	2.37:g.29295656_29295658delTCC	ENSP00000332809:p.Glu494del						p.EE493del	NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN			1	1478_1480	-			493						In_Frame_Del	DEL	ENST00000331664.5	37	c.1479_1481delGGA	CCDS42669.1																																																																																				0.542	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	NM_001029883		9	973						9	973	---	---	---	---
USP34	9736	broad.mit.edu	37	2	61575023	61575025	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr2:61575023_61575025delTGG	ENST00000398571.2	-	15	2341_2343	c.2265_2267delCCA	c.(2263-2268)caccat>cat	p.755_756HH>H		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	755					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			gtggtggtgatggtggtggtggt	0.389																																						ENST00000398571.2																			0				autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138						c.(2263-2268)cat>ca		ubiquitin specific peptidase 34																																				SO:0001651	inframe_deletion	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61575023_61575025delTGG	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.2265_2267delCCA	2.37:g.61575032_61575034delTGG	ENSP00000381577:p.His760del						p.HH759del	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		15	2341_2343	-			759					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	In_Frame_Del	DEL	ENST00000398571.2	37	c.2265_2267delCCA	CCDS42686.1																																																																																				0.389	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			8	404						8	404	---	---	---	---
DYSF	8291	broad.mit.edu	37	2	71801420	71801422	+	In_Frame_Del	DEL	CCG	CCG	-	rs377079619		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr2:71801420_71801422delCCG	ENST00000258104.3	+	30	3544_3546	c.3267_3269delCCG	c.(3265-3270)ttccgc>ttc	p.R1093del	DYSF_ENST00000429174.2_In_Frame_Del_p.R1093del|DYSF_ENST00000413539.2_In_Frame_Del_p.R1124del|DYSF_ENST00000409582.3_In_Frame_Del_p.R1110del|DYSF_ENST00000410041.1_In_Frame_Del_p.R1111del|DYSF_ENST00000394120.2_In_Frame_Del_p.R1094del|DYSF_ENST00000409651.1_In_Frame_Del_p.R1125del|DYSF_ENST00000409366.1_In_Frame_Del_p.R1094del|DYSF_ENST00000409762.1_In_Frame_Del_p.R1110del|DYSF_ENST00000410020.3_In_Frame_Del_p.R1111del|DYSF_ENST00000409744.1_In_Frame_Del_p.R1080del	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1093	Arg-rich.				plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CAGATGCCTTCCGCCGCCGCCGC	0.655																																						ENST00000258104.3																			0				autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						c.(3265-3270)ttc>tt		dysferlin																																				SO:0001651	inframe_deletion	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71801420_71801422delCCG	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.3267_3269delCCG	2.37:g.71801429_71801431delCCG	ENSP00000258104:p.Arg1093del					DYSF_ENST00000429174.2_In_Frame_Del_p.FR1089del|DYSF_ENST00000409582.3_In_Frame_Del_p.FR1106del|DYSF_ENST00000394120.2_In_Frame_Del_p.FR1090del|DYSF_ENST00000409651.1_In_Frame_Del_p.FR1121del|DYSF_ENST00000410020.3_In_Frame_Del_p.FR1107del|DYSF_ENST00000410041.1_In_Frame_Del_p.FR1107del|DYSF_ENST00000409762.1_In_Frame_Del_p.FR1106del|DYSF_ENST00000409744.1_In_Frame_Del_p.FR1076del|DYSF_ENST00000409366.1_In_Frame_Del_p.FR1090del|DYSF_ENST00000413539.2_In_Frame_Del_p.FR1120del	p.FR1089del	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN			30	3544_3546	+			1089			Arg-rich.		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	In_Frame_Del	DEL	ENST00000258104.3	37	c.3267_3269delCCG	CCDS1918.1																																																																																				0.655	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		10	1067						10	1067	---	---	---	---
SLC4A5	57835	broad.mit.edu	37	2	74479414	74479416	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr2:74479414_74479416delCCA	ENST00000377634.4	-	16	1767_1769	c.1368_1370delTGG	c.(1366-1371)ggtggc>ggc	p.456_457GG>G	SLC4A5_ENST00000377632.1_In_Frame_Del_p.456_457GG>G|SLC4A5_ENST00000358683.4_In_Frame_Del_p.392_393GG>G|SLC4A5_ENST00000423644.1_In_Frame_Del_p.456_457GG>G|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000346834.4_In_Frame_Del_p.456_457GG>G|SLC4A5_ENST00000394019.2_In_Frame_Del_p.456_457GG>G|SLC4A5_ENST00000359484.4_In_Frame_Del_p.392_393GG>G|SLC4A5_ENST00000357822.5_In_Frame_Del_p.456_457GG>G					solute carrier family 4 (sodium bicarbonate cotransporter), member 5											breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						gccgccactgccaccaccaccac	0.635																																						ENST00000394019.2																			0				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(1366-1371)ggc>gg		solute carrier family 4 (sodium bicarbonate cotransporter), member 5																																				SO:0001651	inframe_deletion	57835					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	g.chr2:74479414_74479416delCCA	AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"""Solute carriers"""	18168	protein-coding gene	gene with protein product		606757	"""solute carrier family 4, sodium bicarbonate cotransporter, member 5"""			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000377634.4:c.1368_1370delTGG	2.37:g.74479423_74479425delCCA	ENSP00000366861:p.Gly457del					SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000357822.5_In_Frame_Del_p.GG456del|SLC4A5_ENST00000359484.4_In_Frame_Del_p.GG392del|SLC4A5_ENST00000377634.4_In_Frame_Del_p.GG456del|SLC4A5_ENST00000346834.4_In_Frame_Del_p.GG456del|SLC4A5_ENST00000358683.4_In_Frame_Del_p.GG392del|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000423644.1_In_Frame_Del_p.GG456del|SLC4A5_ENST00000377632.1_In_Frame_Del_p.GG456del	p.GG456del	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN			16	1765_1767	-			456			Gly-rich.			In_Frame_Del	DEL	ENST00000377634.4	37	c.1368_1370delTGG	CCDS1936.1																																																																																				0.635	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206583.3			8	317						8	317	---	---	---	---
IGKV1D-8	28904	broad.mit.edu	37	2	90259860	90259861	+	RNA	INS	-	-	C			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr2:90259860_90259861insC	ENST00000471857.1	+	0	236									immunoglobulin kappa variable 1D-8																		AATTTACTCAGCCAATGTGCTC	0.48																																						ENST00000471857.1																			0																																																			0							g.chr2:90259860_90259861insC	Z00008		2p11.2	2012-02-08			ENSG00000239819	ENSG00000239819		"""Immunoglobulins / IGK locus"""	5759	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151570		2.37:g.90259862_90259862dupC														0	236	+									RNA	INS	ENST00000471857.1	37																																																																																						0.480	IGKV1D-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323145.2	NG_000833		14	816						14	816	---	---	---	---
SLC9A4	389015	broad.mit.edu	37	2	103149137	103149137	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr2:103149137delA	ENST00000295269.4	+	12	2844	c.2387delA	c.(2386-2388)caafs	p.Q796fs		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	796					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CCTTTGCTCCAAAAAAAATAG	0.473																																						ENST00000295269.4																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(2386-2388)cafs		solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4							43.0	37.0	39.0					2																	103149137		2203	4300	6503	SO:0001589	frameshift_variant	389015				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr2:103149137delA		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"""Solute carriers"""	11077	protein-coding gene	gene with protein product		600531	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 4"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 4"""			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.2387delA	2.37:g.103149137delA	ENSP00000295269:p.Gln796fs						p.Q796fs	NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN			12	2844	+			796					Q69YK0	Frame_Shift_Del	DEL	ENST00000295269.4	37	c.2387delA	CCDS33264.1																																																																																				0.473	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3		9	256						9	256	---	---	---	---
RANBP2	5903	broad.mit.edu	37	2	109382805	109382805	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr2:109382805delT	ENST00000283195.6	+	20	5936	c.5810delT	c.(5809-5811)attfs	p.I1937fs		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1937					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CGTGGTGTGATTTTTGGCCAA	0.413																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(5809-5811)atfs		RAN binding protein 2							93.0	111.0	105.0					2																	109382805		2195	4282	6477	SO:0001589	frameshift_variant	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109382805delT	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.5810delT	2.37:g.109382805delT	ENSP00000283195:p.Ile1937fs						p.I1937fs	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			20	5936	+			1937					Q13074|Q15280|Q53TE2|Q59FH7	Frame_Shift_Del	DEL	ENST00000283195.6	37	c.5810delT	CCDS2079.1																																																																																				0.413	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		7	1804						7	1804	---	---	---	---
SLC20A1	6574	broad.mit.edu	37	2	113416607	113416608	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr2:113416607_113416608delAG	ENST00000272542.3	+	7	1523_1524	c.984_985delAG	c.(982-987)ccagagfs	p.E329fs	SLC20A1_ENST00000480984.1_3'UTR	NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	329					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	high-affinity inorganic phosphate:sodium symporter activity (GO:0005316)|inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|sodium:phosphate symporter activity (GO:0005436)	p.R332fs*14(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						AGGAAGCTCCAGAGAGAGAGAG	0.515																																						ENST00000272542.3																			1	Deletion - Frameshift(1)	p.R332fs*14(1)	large_intestine(1)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						c.(982-987)ccagfs		solute carrier family 20 (phosphate transporter), member 1																																				SO:0001589	frameshift_variant	6574				phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity	g.chr2:113416607_113416608delAG		CCDS2099.1	2q13	2013-05-22			ENSG00000144136	ENSG00000144136		"""Solute carriers"""	10946	protein-coding gene	gene with protein product	"""gibbon ape leukemia virus receptor 1"""	137570		GLVR1		8041748	Standard	NM_005415		Approved	PiT-1, Glvr-1	uc002tib.3	Q8WUM9	OTTHUMG00000131317	ENST00000272542.3:c.984_985delAG	2.37:g.113416617_113416618delAG	ENSP00000272542:p.Glu329fs					SLC20A1_ENST00000480984.1_3'UTR	p.PE328fs	NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN			7	1523_1524	+			328					Q08344|Q6DHX8|Q9UQ82	Frame_Shift_Del	DEL	ENST00000272542.3	37	c.984_985delAG	CCDS2099.1																																																																																				0.515	SLC20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254086.2	NM_005415		11	501						11	501	---	---	---	---
PLA2R1	22925	broad.mit.edu	37	2	160801442	160801442	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr2:160801442delT	ENST00000283243.7	-	28	4325	c.4119delA	c.(4117-4119)aaafs	p.K1373fs	PLA2R1_ENST00000460710.1_5'UTR	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	1373	C-type lectin 8. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						ATATAAAGCCTTTTTTTTCTT	0.403																																						ENST00000283243.7																		PLA2R1/RBMS1(2)	0				central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						c.(4117-4119)aafs		phospholipase A2 receptor 1, 180kDa							137.0	138.0	138.0					2																	160801442		2203	4300	6503	SO:0001589	frameshift_variant	0				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr2:160801442delT	U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"""C-type lectin domain containing"""	9042	protein-coding gene	gene with protein product		604939	"""phospholipase A2 receptor 1, 180kD"""			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.4119delA	2.37:g.160801442delT	ENSP00000283243:p.Lys1373fs					PLA2R1_ENST00000460710.1_5'UTR	p.K1373fs	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN			28	4325	-			1373			C-type lectin 8.		B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Frame_Shift_Del	DEL	ENST00000283243.7	37	c.4119delA	CCDS33309.1																																																																																				0.403	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1			8	890						8	890	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168104998	168105000	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr2:168104998_168105000delCCT	ENST00000409195.1	+	9	7185_7187	c.7096_7098delCCT	c.(7096-7098)cctdel	p.P2370del	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_In_Frame_Del_p.P2148del|XIRP2_ENST00000295237.9_In_Frame_Del_p.P2370del|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2195					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GTTTCTGCCGCCTCCTCCTCCTC	0.468																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(7096-7098)del		xin actin-binding repeat containing 2																																				SO:0001651	inframe_deletion	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168104998_168105000delCCT	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.7096_7098delCCT	2.37:g.168105007_168105009delCCT	ENSP00000386840:p.Pro2370del					XIRP2_ENST00000409273.1_In_Frame_Del_p.P2148del|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_In_Frame_Del_p.P2370del	p.P2370del	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	7185_7187	+			2195					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	In_Frame_Del	DEL	ENST00000409195.1	37	c.7096_7098delCCT	CCDS42769.1																																																																																				0.468	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		8	728						8	728	---	---	---	---
DNAH7	56171	broad.mit.edu	37	2	196788373	196788374	+	Frame_Shift_Ins	INS	-	-	T	rs397987193|rs71015736|rs34468832		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr2:196788373_196788374insT	ENST00000312428.6	-	23	3870_3871	c.3770_3771insA	c.(3769-3771)aatfs	p.N1257fs		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1257	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CATCGCTAATATTTTTTTTTAC	0.421																																						ENST00000312428.6																			0				NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(3769-3771)aatfs		dynein, axonemal, heavy chain 7				0,3664		0,0,1832						-9.7	0.0		dbSNP_126	97	3,7917		0,3,3957	no	frameshift	DNAH7	NM_018897.2		0,3,5789	A1A1,A1R,RR		0.0379,0.0,0.0259				3,11581				SO:0001589	frameshift_variant	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196788373_196788374insT	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.3771dupA	2.37:g.196788382_196788382dupT	ENSP00000311273:p.Asn1257fs						p.N1257fs	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			23	3870_3871	-			1257			Stem (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Frame_Shift_Ins	INS	ENST00000312428.6	37	c.3770_3771insA	CCDS42794.1																																																																																				0.421	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		7	416						7	416	---	---	---	---
ANKRD44	91526	broad.mit.edu	37	2	197943383	197943384	+	Frame_Shift_Del	DEL	TG	TG	-	rs139294990		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr2:197943383_197943384delTG	ENST00000409153.1	-	16	1875_1876	c.1693_1694delCA	c.(1693-1695)catfs	p.H565fs	ANKRD44_ENST00000328737.2_Intron|ANKRD44_ENST00000539527.1_Frame_Shift_Del_p.H493fs|ANKRD44_ENST00000282272.8_Intron|ANKRD44_ENST00000337207.5_Intron|ANKRD44_ENST00000450567.1_Intron			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	0										NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			ATTTGGGGTATGTGTGTGTGTG	0.411																																						ENST00000409153.1																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45						c.(1693-1695)tfs		ankyrin repeat domain 44																																				SO:0001589	frameshift_variant	91526						protein binding	g.chr2:197943383_197943384delTG	AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	25259	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit B"""						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000409153.1:c.1693_1694delCA	2.37:g.197943393_197943394delTG	ENSP00000387141:p.His565fs					ANKRD44_ENST00000539527.1_Frame_Shift_Del_p.H493fs|ANKRD44_ENST00000450567.1_Intron|ANKRD44_ENST00000337207.5_Intron|ANKRD44_ENST00000282272.8_Intron|ANKRD44_ENST00000328737.2_Intron	p.H565fs			Q8N8A2	ANR44_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		16	1875_1876	-			811					Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Frame_Shift_Del	DEL	ENST00000409153.1	37	c.1693_1694delCA																																																																																					0.411	ANKRD44-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000335114.3	NM_153697		11	96						11	96	---	---	---	---
SGOL2	151246	broad.mit.edu	37	2	201437003	201437004	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr2:201437003_201437004insT	ENST00000357799.4	+	7	2032_2033	c.1934_1935insT	c.(1933-1938)aattttfs	p.NF645fs		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	645					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						AAAAAAGGTAATTTTTTTTTCA	0.337																																						ENST00000357799.4																			0				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						c.(1933-1935)attfs		shugoshin-like 2 (S. pombe)																																				SO:0001589	frameshift_variant	151246				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	g.chr2:201437003_201437004insT	AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.1943dupT	2.37:g.201437012_201437012dupT	ENSP00000350447:p.Asn645fs						p.I645fs	NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN			7	2032_2033	+			645					Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Frame_Shift_Ins	INS	ENST00000357799.4	37	c.1934_1935insT	CCDS42796.1																																																																																				0.337	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	NM_152524		9	652						9	652	---	---	---	---
SLC11A1	6556	broad.mit.edu	37	2	219252307	219252307	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr2:219252307delT	ENST00000233202.6	+	7	931	c.591delT	c.(589-591)gctfs	p.A197fs	SLC11A1_ENST00000539932.1_Frame_Shift_Del_p.A79fs	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	197					activation of protein kinase activity (GO:0032147)|antigen processing and presentation of peptide antigen (GO:0048002)|cadmium ion transmembrane transport (GO:0070574)|cellular cadmium ion homeostasis (GO:0006876)|cellular iron ion homeostasis (GO:0006879)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|defense response to protozoan (GO:0042832)|divalent metal ion export (GO:0070839)|inflammatory response (GO:0006954)|interaction with host (GO:0051701)|interleukin-2 production (GO:0032623)|interleukin-3 production (GO:0032632)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)|L-arginine import (GO:0043091)|macrophage activation (GO:0042116)|manganese ion transport (GO:0006828)|MHC class II biosynthetic process (GO:0045342)|mRNA stabilization (GO:0048255)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of cytokine production (GO:0001818)|nitrite transport (GO:0015707)|phagocytosis (GO:0006909)|phagosome maturation (GO:0090382)|positive regulation of cytokine production (GO:0001819)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of gene expression (GO:0010628)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of phagocytosis (GO:0050766)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein import into nucleus, translocation (GO:0000060)|respiratory burst (GO:0045730)|response to bacterium (GO:0009617)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|T cell cytokine production (GO:0002369)|T cell proliferation involved in immune response (GO:0002309)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)|wound healing (GO:0042060)	cell outer membrane (GO:0009279)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosome (GO:0005764)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|tertiary granule membrane (GO:0070821)	manganese ion transmembrane transporter activity (GO:0005384)|metal ion:proton antiporter activity (GO:0051139)|protein homodimerization activity (GO:0042803)|transition metal ion transmembrane transporter activity (GO:0046915)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCTGGAAGCTTTTTTTGGAC	0.448																																						ENST00000233202.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(589-591)gcfs		solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1							305.0	318.0	314.0					2																	219252307		2203	4300	6503	SO:0001589	frameshift_variant	6556				activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity	g.chr2:219252307delT	D38171	CCDS2415.1	2q35	2013-07-18	2013-07-18		ENSG00000018280	ENSG00000018280		"""Solute carriers"""	10907	protein-coding gene	gene with protein product	"""natural resistance-associated macrophage protein 1"""	600266		LSH, NRAMP, NRAMP1		7964458, 7980580	Standard	NM_000578		Approved		uc002vhv.3	P49279	OTTHUMG00000086747	ENST00000233202.6:c.591delT	2.37:g.219252307delT	ENSP00000233202:p.Ala197fs					SLC11A1_ENST00000539932.1_Frame_Shift_Del_p.A79fs	p.A197fs	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	7	931	+		Renal(207;0.0474)	197					C0H5Y3	Frame_Shift_Del	DEL	ENST00000233202.6	37	c.591delT	CCDS2415.1																																																																																				0.448	SLC11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195076.2	NM_000578		8	2117						8	2117	---	---	---	---
IRS1	3667	broad.mit.edu	37	2	227660808	227660810	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr2:227660808_227660810delGCT	ENST00000305123.5	-	1	3665_3667	c.2645_2647delAGC	c.(2644-2649)cagccc>ccc	p.Q882del	IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	882	Poly-Gln.				cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		TGCAGCAAGGgctgctgctgctg	0.626																																						ENST00000305123.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69						c.(2644-2649)ccc>c		insulin receptor substrate 1																																				SO:0001651	inframe_deletion	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227660808_227660810delGCT		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"""Pleckstrin homology (PH) domain containing"""	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.2645_2647delAGC	2.37:g.227660817_227660819delGCT	ENSP00000304895:p.Gln882del						p.QP882del	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	3665_3667	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	882			Poly-Gln.			In_Frame_Del	DEL	ENST00000305123.5	37	c.2645_2647delAGC	CCDS2463.1																																																																																				0.626	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		11	456						11	456	---	---	---	---
TRPM8	79054	broad.mit.edu	37	2	234879010	234879010	+	Frame_Shift_Del	DEL	C	C	-	rs201204922		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr2:234879010delC	ENST00000324695.4	+	17	2335	c.2295delC	c.(2293-2295)cacfs	p.H765fs	TRPM8_ENST00000433712.2_Intron	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	765					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	CGGTGCCACACCCCCCCGAGC	0.577																																						ENST00000324695.4																			0				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66						c.(2293-2295)cafs		transient receptor potential cation channel, subfamily M, member 8	Menthol(DB00825)						309.0	295.0	300.0					2																	234879010		2203	4300	6503	SO:0001589	frameshift_variant	79054					integral to membrane		g.chr2:234879010delC	AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.2295delC	2.37:g.234879010delC	ENSP00000323926:p.His765fs					TRPM8_ENST00000433712.2_Intron	p.H765fs	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	17	2335	+		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)	765					A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Frame_Shift_Del	DEL	ENST00000324695.4	37	c.2295delC	CCDS33407.1																																																																																				0.577	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131005.4	NM_024080		11	1850						11	1850	---	---	---	---
SYN2	6854	broad.mit.edu	37	3	12046124	12046126	+	RNA	DEL	AGC	AGC	-	rs76272937|rs74800608|rs375843790|rs74185804|rs202010288	byFrequency	TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr3:12046124_12046126delAGC	ENST00000432424.2	+	0	245_247							Q92777	SYN2_HUMAN	synapsin II						neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						AGCCCCAGCAAGCGCCGAcgccg	0.764														5004	0.999201	0.9992	1.0	5008	,	,		2724	1.0		0.999	False		,,,				2504	0.998					ENST00000432424.2																			0				breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18								synapsin II																																						6854				neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity	g.chr3:12046124_12046126delAGC		CCDS74900.1, CCDS74901.1	3p25.2	2013-09-20			ENSG00000157152	ENSG00000157152			11495	protein-coding gene	gene with protein product		600755				8530057	Standard	XM_006713311		Approved	SYNII, SYNIIa, SYNIIb	uc003bwm.3	Q92777	OTTHUMG00000155335		3.37:g.12046124_12046126delAGC										Q86VA8	Q86VA8_HUMAN			0	245_247	+								A8MY98	RNA	DEL	ENST00000432424.2	37																																																																																						0.764	SYN2-002	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000339528.3	NM_133625		7	16						7	16	---	---	---	---
CACNA1D	776	broad.mit.edu	37	3	53529193	53529195	+	Start_Codon_Del	DEL	GAT	GAT	-			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr3:53529193_53529195delGAT	ENST00000350061.5	+	0	511_513				CACNA1D_ENST00000288139.4_Start_Codon_Del|CACNA1D_ENST00000422281.2_Start_Codon_Del	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit						adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	aatgttcgtGgatgatgatgatg	0.581																																						ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90								calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)																																			SO:0001582	initiator_codon_variant	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53529193_53529195delGAT	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278		3.37:g.53529202_53529204delGAT						CACNA1D_ENST00000350061.5_Start_Codon_Del|CACNA1D_ENST00000422281.2_Start_Codon_Del		NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	0	118_120	+								B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Translation_Start_Site	DEL	ENST00000350061.5	37		CCDS46848.1																																																																																				0.581	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		9	519						9	519	---	---	---	---
LNP1	348801	broad.mit.edu	37	3	100148586	100148588	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr3:100148586_100148588delGAT	ENST00000383693.3	+	2	1293_1295	c.13_15delGAT	c.(13-15)gatdel	p.D10del	LNP1_ENST00000489752.1_In_Frame_Del_p.D10del	NM_001085451.1	NP_001078920.1	A1A4G5	LNP1_HUMAN	leukemia NUP98 fusion partner 1	10	Poly-Asp.									cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						GGAGCACAAAGATGATGATGATG	0.507																																						ENST00000383693.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						c.(13-15)del		leukemia NUP98 fusion partner 1																																				SO:0001651	inframe_deletion	348801							g.chr3:100148586_100148588delGAT		CCDS43120.1	3q12.2	2014-05-12			ENSG00000206535	ENSG00000206535			28014	protein-coding gene	gene with protein product						16467868	Standard	NM_001085451		Approved	NP3	uc003dtx.4	A1A4G5	OTTHUMG00000159082	ENST00000383693.3:c.13_15delGAT	3.37:g.100148595_100148597delGAT	ENSP00000373191:p.Asp10del					LNP1_ENST00000489752.1_In_Frame_Del_p.D10del	p.D10del	NM_001085451.1	NP_001078920.1	A1A4G5	LNP1_HUMAN			2	1293_1295	+			10			Poly-Asp.		B7ZLT3	In_Frame_Del	DEL	ENST00000383693.3	37	c.13_15delGAT	CCDS43120.1																																																																																				0.507	LNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353232.1			9	1105						9	1105	---	---	---	---
KIAA2018	205717	broad.mit.edu	37	3	113380090	113380090	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr3:113380090delT	ENST00000478658.1	-	5	456	c.439delA	c.(439-441)attfs	p.I148fs	KIAA2018_ENST00000316407.4_Frame_Shift_Del_p.I148fs|KIAA2018_ENST00000491165.1_Intron			Q68DE3	K2018_HUMAN	KIAA2018	148						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TAAACAATAATTTTTTTTTGA	0.373																																						ENST00000316407.4																			0				NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						c.(439-441)ttfs		KIAA2018							90.0	87.0	88.0					3																	113380090		1813	4072	5885	SO:0001589	frameshift_variant	205717				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr3:113380090delT	AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.439delA	3.37:g.113380090delT	ENSP00000420721:p.Ile148fs					KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Frame_Shift_Del_p.I148fs	p.I148fs	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN			7	849	-			148					Q7Z3L9|Q8IVF3|Q9H8T4	Frame_Shift_Del	DEL	ENST00000478658.1	37	c.439delA	CCDS43133.1																																																																																				0.373	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		8	630						8	630	---	---	---	---
TMCC1	23023	broad.mit.edu	37	3	129546680	129546682	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr3:129546680_129546682delGCA	ENST00000393238.3	-	3	880_882	c.540_542delTGC	c.(538-543)gctgca>gca	p.180_181AA>A	TMCC1_ENST00000426664.2_In_Frame_Del_p.66_67AA>A	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	180						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						TGGTAGACATgcagcagcagcag	0.483																																						ENST00000393238.3																		PLXND1/TMCC1(4)	0				breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						c.(538-543)gca>gc		transmembrane and coiled-coil domain family 1																																				SO:0001651	inframe_deletion	23023					integral to membrane		g.chr3:129546680_129546682delGCA	AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"""Transmembrane and coiled-coil domain containing"""	29116	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 1"""			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.540_542delTGC	3.37:g.129546689_129546691delGCA	ENSP00000376930:p.Ala181del					TMCC1_ENST00000426664.2_In_Frame_Del_p.AA66del	p.AA180del	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN			3	880_882	-			180					A8K5Y3|B4DE04|Q68E06|Q8IXM8	In_Frame_Del	DEL	ENST00000393238.3	37	c.540_542delTGC	CCDS33855.1																																																																																				0.483	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008		9	284						9	284	---	---	---	---
PBX2P1	5088	broad.mit.edu	37	3	142895210	142895211	+	RNA	INS	-	-	G	rs565418740|rs533999492	byFrequency	TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr3:142895210_142895211insG	ENST00000560287.1	+	0	84_85									pre-B-cell leukemia homeobox 2 pseudogene 1																		AGGCGGGGCCCGGGGGGGGCCT	0.762																																						ENST00000560287.1																			0																																																			0							g.chr3:142895210_142895211insG			3q24	2014-03-25	2007-01-30	2007-01-30	ENSG00000244171	ENSG00000244171		"""Homeoboxes / TALE class"""	8635	pseudogene	pseudogene			"""pre-B-cell leukemia transcription factor pseudogene 1"""	PBX2, PBXP1		1682799	Standard	NG_002434		Approved				OTTHUMG00000159350		3.37:g.142895218_142895218dupG														0	84_85	+									RNA	INS	ENST00000560287.1	37																																																																																						0.762	PBX2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417717.1	NG_002434		7	98						7	98	---	---	---	---
MED12L	116931	broad.mit.edu	37	3	151148114	151148116	+	In_Frame_Del	DEL	CAG	CAG	-	rs147600909		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr3:151148114_151148116delCAG	ENST00000474524.1	+	42	6369_6371	c.6331_6333delCAG	c.(6331-6333)cagdel	p.Q2115del	MED12L_ENST00000273432.4_In_Frame_Del_p.Q1779del	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	2115	Gln-rich.					mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.Q2111E(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCAGCAGACCCAGCAGCAGCAGC	0.527																																						ENST00000474524.1																			1	Substitution - Missense(1)	p.Q2111E(1)	lung(1)	NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(6331-6333)del		mediator complex subunit 12-like																																				SO:0001651	inframe_deletion	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151148114_151148116delCAG	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.6331_6333delCAG	3.37:g.151148123_151148125delCAG	ENSP00000417235:p.Gln2115del					MED12L_ENST00000273432.4_In_Frame_Del_p.Q1779del	p.Q2115del	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		42	6369_6371	+			2115			Gln-rich.		Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	In_Frame_Del	DEL	ENST00000474524.1	37	c.6331_6333delCAG	CCDS33876.1																																																																																				0.527	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		8	468						8	468	---	---	---	---
ABCC5	10057	broad.mit.edu	37	3	183665257	183665257	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr3:183665257delA	ENST00000334444.6	-	23	3509	c.3269delT	c.(3268-3270)ttgfs	p.L1090fs	ABCC5_ENST00000265586.6_Frame_Shift_Del_p.L1047fs	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1090	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	ACACGTAAACAAAAAAAAAGG	0.532																																						ENST00000334444.6																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(3268-3270)tgfs		ATP-binding cassette, sub-family C (CFTR/MRP), member 5							49.0	58.0	55.0					3																	183665257		1969	4159	6128	SO:0001589	frameshift_variant	10057					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr3:183665257delA	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.3269delT	3.37:g.183665257delA	ENSP00000333926:p.Leu1090fs					ABCC5_ENST00000265586.6_Frame_Shift_Del_p.L1047fs	p.L1090fs	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		23	3509	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		1090			ABC transmembrane type-1 2.		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Frame_Shift_Del	DEL	ENST00000334444.6	37	c.3269delT	CCDS43176.1																																																																																				0.532	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688		8	154						8	154	---	---	---	---
YTHDC1	91746	broad.mit.edu	37	4	69202891	69202893	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr4:69202891_69202893delTCC	ENST00000344157.4	-	4	1070_1072	c.735_737delGGA	c.(733-738)gaggaa>gaa	p.245_246EE>E	YTHDC1_ENST00000355665.3_In_Frame_Del_p.245_246EE>E|YTHDC1_ENST00000579690.1_In_Frame_Del_p.245_246EE>E	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	245	Glu-rich.				mRNA splice site selection (GO:0006376)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.E245E(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						ttcttcttcttcctcctcctcct	0.473																																						ENST00000344157.4																			1	Substitution - coding silent(1)	p.E245E(1)	large_intestine(1)	NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						c.(733-738)gaa>ga		YTH domain containing 1																																				SO:0001651	inframe_deletion	91746							g.chr4:69202891_69202893delTCC	AK098515	CCDS3522.2, CCDS33992.1	4q13.3	2009-01-14			ENSG00000083896	ENSG00000083896			30626	protein-coding gene	gene with protein product						12368078, 10564280	Standard	XM_005265706		Approved	YT521, KIAA1966, YT521-B	uc003hdx.3	Q96MU7	OTTHUMG00000129306	ENST00000344157.4:c.735_737delGGA	4.37:g.69202900_69202902delTCC	ENSP00000339245:p.Glu249del					YTHDC1_ENST00000355665.3_In_Frame_Del_p.EE247del|YTHDC1_ENST00000579690.1_In_Frame_Del_p.EE247del	p.EE247del	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN			4	1070_1072	-			247			Glu-rich.		Q4W5Q3|Q7Z622|Q8TF35	In_Frame_Del	DEL	ENST00000344157.4	37	c.735_737delGGA	CCDS33992.1																																																																																				0.473	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251437.1	NM_133370		9	288						9	288	---	---	---	---
CCDC158	339965	broad.mit.edu	37	4	77305357	77305357	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr4:77305357delT	ENST00000388914.3	-	5	762	c.610delA	c.(610-612)atafs	p.I204fs	CCDC158_ENST00000434846.2_Frame_Shift_Del_p.I204fs	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	204										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TGTTCACATATTTTTTTGCCT	0.393																																						ENST00000388914.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						c.(610-612)tafs		coiled-coil domain containing 158							106.0	97.0	100.0					4																	77305357		1872	4116	5988	SO:0001589	frameshift_variant	339965							g.chr4:77305357delT	BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.610delA	4.37:g.77305357delT	ENSP00000373566:p.Ile204fs					CCDC158_ENST00000434846.2_Frame_Shift_Del_p.I204fs	p.I204fs	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN			5	762	-			204					Q8IYQ1|Q8N7D4|Q8N7E3	Frame_Shift_Del	DEL	ENST00000388914.3	37	c.610delA	CCDS43242.1																																																																																				0.393	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362694.2	NM_001042784		10	653						10	653	---	---	---	---
PRDM8	56978	broad.mit.edu	37	4	81123250	81123252	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr4:81123250_81123252delCAG	ENST00000504452.1	+	8	1473_1475	c.634_636delCAG	c.(634-636)cagdel	p.Q217del	PRDM8_ENST00000415738.2_In_Frame_Del_p.Q217del|PRDM8_ENST00000339711.4_In_Frame_Del_p.Q217del			Q9NQV8	PRDM8_HUMAN	PR domain containing 8	217	Gly-rich.|Poly-Gln.				corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						tggcaaagaccagcagcagcagc	0.655											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000339711.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						c.(634-636)del		PR domain containing 8			,	0,83,3743		0,0,0,8,67,1838					,	-0.4	0.0			26	6,139,7809		0,0,6,5,129,3837	no	codingComplex,codingComplex	PRDM8	NM_020226.3,NM_001099403.1	,	0,0,6,13,196,5675	A1A1,A1A2,A1R,A2A2,A2R,RR		1.823,2.1694,1.9355	,	,		6,222,11552				SO:0001651	inframe_deletion	56978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:81123250_81123252delCAG	AF275815	CCDS43243.1	4q21	2008-08-21				ENSG00000152784			13993	protein-coding gene	gene with protein product							Standard	NM_020226		Approved		uc003hmc.4	Q9NQV8		ENST00000504452.1:c.634_636delCAG	4.37:g.81123259_81123261delCAG	ENSP00000423985:p.Gln217del		OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1203	PRDM8_ENST00000504452.1_In_Frame_Del_p.Q217del|PRDM8_ENST00000415738.2_In_Frame_Del_p.Q217del	p.Q217del	NM_020226.3	NP_064611.3	Q9NQV8	PRDM8_HUMAN			10	1865_1867	+			217			Gly-rich.|Poly-Gln.		A8K7X2|Q6IQ36	In_Frame_Del	DEL	ENST00000504452.1	37	c.634_636delCAG	CCDS43243.1																																																																																				0.655	PRDM8-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362793.1			8	377						8	377	---	---	---	---
NPNT	255743	broad.mit.edu	37	4	106863682	106863684	+	In_Frame_Del	DEL	CCA	CCA	-	rs368167746		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr4:106863682_106863684delCCA	ENST00000379987.2	+	8	1198_1200	c.982_984delCCA	c.(982-984)ccadel	p.P333del	NPNT_ENST00000506666.1_In_Frame_Del_p.P363del|NPNT_ENST00000453617.2_In_Frame_Del_p.P350del|NPNT_ENST00000514622.1_In_Frame_Del_p.P333del|NPNT_ENST00000427316.2_In_Frame_Del_p.P363del|NPNT_ENST00000305572.8_In_Frame_Del_p.P333del	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	333	Pro-rich.				branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to tumor necrosis factor (GO:0071356)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|pilomotor reflex (GO:0097195)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|ureteric bud development (GO:0001657)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integrin alpha8-beta1 complex (GO:0034678)|proteinaceous extracellular matrix (GO:0005578)|smooth muscle contractile fiber (GO:0030485)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		AATTCCTACTCCACCACCACCAC	0.522																																						ENST00000379987.2																			0				kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21						c.(982-984)del		nephronectin																																				SO:0001651	inframe_deletion	255743				cell differentiation	membrane	calcium ion binding	g.chr4:106863682_106863684delCCA		CCDS34046.1, CCDS54784.1, CCDS54785.1, CCDS54786.1, CCDS54787.1	4q25	2005-10-07							27405	protein-coding gene	gene with protein product		610306				15754038	Standard	NM_001033047		Approved	EGFL6L, POEM	uc011cfd.2	Q6UXI9		ENST00000379987.2:c.982_984delCCA	4.37:g.106863691_106863693delCCA	ENSP00000369323:p.Pro333del					NPNT_ENST00000514622.1_In_Frame_Del_p.P333del|NPNT_ENST00000305572.8_In_Frame_Del_p.P333del|NPNT_ENST00000506666.1_In_Frame_Del_p.P363del|NPNT_ENST00000453617.2_In_Frame_Del_p.P350del|NPNT_ENST00000427316.2_In_Frame_Del_p.P363del	p.P333del	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)	8	1198_1200	+		Hepatocellular(203;0.217)	333			Pro-rich.		A6NFT9|A8K1W4|B4DIT4|B4DYK3|B4E2H7|B4E3H2|D6RCA1|E9PCK8|E9PCQ1|E9PE64|E9PF04	In_Frame_Del	DEL	ENST00000379987.2	37	c.982_984delCCA	CCDS34046.1																																																																																				0.522	NPNT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364083.1	NM_198278		8	551						8	551	---	---	---	---
ADAD1	132612	broad.mit.edu	37	4	123302211	123302211	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr4:123302211delA	ENST00000296513.2	+	4	422	c.237delA	c.(235-237)ccafs	p.P79fs	ADAD1_ENST00000388725.2_Frame_Shift_Del_p.P61fs|ADAD1_ENST00000388724.2_Frame_Shift_Del_p.P79fs|ADAD1_ENST00000492454.1_3'UTR	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	79					multicellular organismal development (GO:0007275)|RNA processing (GO:0006396)|spermatid development (GO:0007286)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						TCCTTCCTCCAAAAAAAATAC	0.358																																						ENST00000296513.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(235-237)ccfs		adenosine deaminase domain containing 1 (testis-specific)							63.0	70.0	68.0					4																	123302211		2202	4300	6502	SO:0001589	frameshift_variant	132612				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding	g.chr4:123302211delA	AK057303	CCDS34058.1, CCDS54800.1, CCDS54801.1	4q27	2007-05-31			ENSG00000164113	ENSG00000164113			30713	protein-coding gene	gene with protein product		614130				7543294, 9541871	Standard	NM_139243		Approved	Tenr	uc003iep.3	Q96M93	OTTHUMG00000150128	ENST00000296513.2:c.237delA	4.37:g.123302211delA	ENSP00000296513:p.Pro79fs					ADAD1_ENST00000388724.2_Frame_Shift_Del_p.P79fs|ADAD1_ENST00000388725.2_Frame_Shift_Del_p.P61fs|ADAD1_ENST00000492454.1_3'UTR	p.P79fs	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN			4	422	+			79					A6NKN4|B7WPB0|D3DNX2|Q8IWG6|Q8NA06	Frame_Shift_Del	DEL	ENST00000296513.2	37	c.237delA	CCDS34058.1																																																																																				0.358	ADAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316452.1	NM_139243		9	441						9	441	---	---	---	---
CLCN3	1182	broad.mit.edu	37	4	170618538	170618538	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr4:170618538delT	ENST00000513761.1	+	9	1775	c.1216delT	c.(1216-1218)tttfs	p.F407fs	CLCN3_ENST00000347613.4_Frame_Shift_Del_p.F407fs|CLCN3_ENST00000360642.3_Frame_Shift_Del_p.F380fs|CLCN3_ENST00000504131.2_Frame_Shift_Del_p.F390fs	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	407					chloride transmembrane transport (GO:1902476)|endosomal lumen acidification (GO:0048388)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|voltage-gated chloride channel activity (GO:0005247)			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		TTGGGGAGCCTTTTTCATTAG	0.438																																						ENST00000513761.1																			0				breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29						c.(1216-1218)ttfs		chloride channel, voltage-sensitive 3							145.0	144.0	144.0					4																	170618538		2203	4300	6503	SO:0001589	frameshift_variant	0				endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity	g.chr4:170618538delT	X78520	CCDS34100.1, CCDS34101.1, CCDS58932.1, CCDS75208.1	4q	2012-09-26	2012-02-23		ENSG00000109572	ENSG00000109572		"""Ion channels / Chloride channels : Voltage-sensitive"""	2021	protein-coding gene	gene with protein product		600580	"""chloride channel 3"""				Standard	NM_001243374		Approved	CLC3, ClC-3	uc003ish.3	P51790	OTTHUMG00000160973	ENST00000513761.1:c.1216delT	4.37:g.170618538delT	ENSP00000424603:p.Phe407fs					CLCN3_ENST00000347613.4_Frame_Shift_Del_p.F407fs|CLCN3_ENST00000360642.3_Frame_Shift_Del_p.F380fs|CLCN3_ENST00000504131.2_Frame_Shift_Del_p.F390fs	p.F407fs	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)	9	1775	+		Prostate(90;0.00601)|Renal(120;0.0183)	407					B7Z932|B9EGJ9|D3DP34|E9PB97|O14918|Q86Z21	Frame_Shift_Del	DEL	ENST00000513761.1	37	c.1216delT	CCDS34101.1																																																																																				0.438	CLCN3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363210.2			8	910						8	910	---	---	---	---
CDC25C	995	broad.mit.edu	37	5	137627690	137627690	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr5:137627690delT	ENST00000323760.6	-	8	1009	c.731delA	c.(730-732)aagfs	p.K244fs	CDC25C_ENST00000513970.1_Frame_Shift_Del_p.K244fs|CDC25C_ENST00000415130.2_Frame_Shift_Del_p.K171fs|CDC25C_ENST00000357274.3_Frame_Shift_Del_p.K201fs|CDC25C_ENST00000348983.3_Frame_Shift_Del_p.K171fs|CDC25C_ENST00000514555.1_Frame_Shift_Del_p.K214fs|CDC25C_ENST00000356505.3_Frame_Shift_Del_p.K214fs	NM_001790.3	NP_001781.2	P30307	MPIP3_HUMAN	cell division cycle 25C	244					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|WW domain binding (GO:0050699)			endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			AGAAAAATACTTTTTTTTAAC	0.388																																						ENST00000323760.6																			0				endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16						c.(730-732)agfs		cell division cycle 25C							132.0	136.0	135.0					5																	137627690		2203	4300	6503	SO:0001589	frameshift_variant	995				cell cycle checkpoint|cell division|cell proliferation|DNA replication|G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm	protein tyrosine phosphatase activity|WW domain binding	g.chr5:137627690delT	M34065	CCDS4202.1, CCDS4203.1	5q31	2013-01-17	2013-01-17		ENSG00000158402	ENSG00000158402		"""Protein tyrosine phosphatases / Class III Cys-based PTPs"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1727	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 60"""	157680	"""cell division cycle 25C"", ""cell division cycle 25 homolog C (S. cerevisiae)"", ""cell division cycle 25 homolog C (S. pombe)"""	CDC25		1703321	Standard	XM_005272145		Approved	PPP1R60	uc003lcp.1	P30307	OTTHUMG00000129203	ENST00000323760.6:c.731delA	5.37:g.137627690delT	ENSP00000321656:p.Lys244fs					CDC25C_ENST00000415130.2_Frame_Shift_Del_p.K171fs|CDC25C_ENST00000513970.1_Frame_Shift_Del_p.K244fs|CDC25C_ENST00000514555.1_Frame_Shift_Del_p.K214fs|CDC25C_ENST00000356505.3_Frame_Shift_Del_p.K214fs|CDC25C_ENST00000348983.3_Frame_Shift_Del_p.K171fs|CDC25C_ENST00000357274.3_Frame_Shift_Del_p.K201fs	p.K244fs	NM_001790.3	NP_001781.2	P30307	MPIP3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		8	1009	-			244					D3DQB8|Q96PL3|Q9H168|Q9H2E8|Q9H2E9|Q9H2F1	Frame_Shift_Del	DEL	ENST00000323760.6	37	c.731delA	CCDS4202.1																																																																																				0.388	CDC25C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251280.1			7	673						7	673	---	---	---	---
TIGD6	81789	broad.mit.edu	37	5	149375600	149375600	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr5:149375600delT	ENST00000296736.3	-	2	1086	c.312delA	c.(310-312)aaafs	p.K104fs	TIGD6_ENST00000515406.2_Frame_Shift_Del_p.K104fs	NM_030953.3	NP_112215.1	Q17RP2	TIGD6_HUMAN	tigger transposable element derived 6	104	HTH CENPB-type. {ECO:0000255|PROSITE- ProRule:PRU00583}.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|stomach(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			AGTTTAGTGCTTTTTTCCGAA	0.423																																						ENST00000296736.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|stomach(1)	10						c.(310-312)aafs		tigger transposable element derived 6							169.0	167.0	168.0					5																	149375600		2203	4300	6503	SO:0001589	frameshift_variant	81789				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr5:149375600delT	AK056604	CCDS4301.1	5q33.1	2008-02-05			ENSG00000164296	ENSG00000164296			18332	protein-coding gene	gene with protein product						11230166	Standard	NM_030953		Approved	DKFZp761E2110	uc003lrj.3	Q17RP2	OTTHUMG00000130045	ENST00000296736.3:c.312delA	5.37:g.149375600delT	ENSP00000296736:p.Lys104fs					TIGD6_ENST00000515406.2_Frame_Shift_Del_p.K104fs	p.K104fs	NM_030953.3	NP_112215.1	Q17RP2	TIGD6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		2	1086	-			104			HTH CENPB-type.		B3KTZ8|Q96MQ4|Q9H0X7	Frame_Shift_Del	DEL	ENST00000296736.3	37	c.312delA	CCDS4301.1																																																																																				0.423	TIGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252324.1	NM_030953		7	1418						7	1418	---	---	---	---
EHMT2	10919	broad.mit.edu	37	6	31857309	31857311	+	In_Frame_Del	DEL	TCT	TCT	-	rs138941874		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr6:31857309_31857311delTCT	ENST00000375537.4	-	8	939_941	c.933_935delAGA	c.(931-936)gaagag>gag	p.311_312EE>E	EHMT2_ENST00000395728.3_In_Frame_Del_p.368_369EE>E|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375528.4_In_Frame_Del_p.368_369EE>E|EHMT2_ENST00000375530.4_In_Frame_Del_p.311_312EE>E	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	311	Poly-Glu.				DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						ctcctcttcctcttcttcttctt	0.493																																						ENST00000395728.3																			0				central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						c.(1102-1107)gag>ga		euchromatic histone-lysine N-methyltransferase 2																																				SO:0001651	inframe_deletion	10919				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr6:31857309_31857311delTCT	AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	14129	protein-coding gene	gene with protein product		604599	"""chromosome 6 open reading frame 30"", ""HLA-B associated transcript 8"""	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.933_935delAGA	6.37:g.31857318_31857320delTCT	ENSP00000364687:p.Glu323del					EHMT2_ENST00000375530.4_In_Frame_Del_p.EE321del|EHMT2_ENST00000375537.4_In_Frame_Del_p.EE321del|EHMT2_ENST00000375528.4_In_Frame_Del_p.EE378del|EHMT2_ENST00000480912.1_5'UTR	p.EE378del			Q96KQ7	EHMT2_HUMAN			7	1103_1105	-			321					B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	In_Frame_Del	DEL	ENST00000375537.4	37	c.1104_1106delAGA	CCDS4725.1																																																																																				0.493	EHMT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076355.5	NM_006709		9	648						9	648	---	---	---	---
STK19	8859	broad.mit.edu	37	6	31939825	31939826	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr6:31939825_31939826insG	ENST00000375333.2	+	1	105_106	c.52_53insG	c.(52-54)cggfs	p.R18fs	DXO_ENST00000375349.3_5'UTR|DXO_ENST00000375356.3_5'Flank|DXO_ENST00000478221.1_5'UTR|DXO_ENST00000337523.5_5'UTR|STK19_ENST00000375331.2_Frame_Shift_Ins_p.R18fs	NM_032454.1	NP_115830.1	P49842	STK19_HUMAN	serine/threonine kinase 19	18					protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			skin(5)|upper_aerodigestive_tract(2)	7						GCGACAGTGGCGGGCAAACCCC	0.634																																						ENST00000375331.2																			0				skin(5)|upper_aerodigestive_tract(2)	7						c.(52-54)ggcfs		serine/threonine kinase 19																																				SO:0001589	frameshift_variant	8859					nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:31939825_31939826insG	X77474	CCDS4733.1, CCDS34417.1	6p21.33	2011-09-15			ENSG00000204344	ENSG00000204344			11398	protein-coding gene	gene with protein product		604977				8012361, 9812991	Standard	NM_032454		Approved	D6S60, G11, RP1	uc003nyv.3	P49842	OTTHUMG00000166424	ENST00000375333.2:c.55dupG	6.37:g.31939828_31939828dupG	ENSP00000364482:p.Arg18fs					DOM3Z_ENST00000478221.1_5'UTR|DOM3Z_ENST00000337523.5_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.G18fs|DOM3Z_ENST00000375349.3_5'UTR	p.G18fs	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN			1	218_219	+			18					A6NF95|A6NFW8|B0QZR5|Q13159|Q31617|Q5JP77|Q5ST72|Q5ST75	Frame_Shift_Ins	INS	ENST00000375333.2	37	c.52_53insG	CCDS4733.1																																																																																				0.634	STK19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076484.3			10	1246						10	1246	---	---	---	---
HLA-DRB6	3128	broad.mit.edu	37	6	32521865	32521866	+	RNA	INS	-	-	G	rs199584801|rs71536529|rs373940971	byFrequency	TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr6:32521865_32521866insG	ENST00000411500.1	-	0	740					NR_001298.1				major histocompatibility complex, class II, DR beta 6 (pseudogene)																		CTAAAATAACTATTTTTTCTGG	0.322																																						ENST00000411500.1																			0																																																			0							g.chr6:32521865_32521866insG	L76566		6p21.3	2011-07-08			ENSG00000229391	ENSG00000229391		"""Histocompatibility complex"""	4954	pseudogene	pseudogene						1529427, 10436177	Standard	NR_001298		Approved		uc003obn.1		OTTHUMG00000031028		6.37:g.32521865_32521866insG								NR_001298.1						0	740	-									RNA	INS	ENST00000411500.1	37																																																																																						0.322	HLA-DRB6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000272900.1	NR_001298		6	13						6	13	---	---	---	---
HSP90AB1	3326	broad.mit.edu	37	6	44221052	44221052	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr6:44221052delT	ENST00000371554.1	+	11	2216	c.2002delT	c.(2002-2004)tttfs	p.F668fs	SLC35B2_ENST00000495706.1_5'Flank|HSP90AB1_ENST00000371646.5_Frame_Shift_Del_p.F668fs|HSP90AB1_ENST00000353801.3_Frame_Shift_Del_p.F668fs|MIR4647_ENST00000583964.1_RNA			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	668					axon guidance (GO:0007411)|cellular response to interleukin-4 (GO:0071353)|cellular response to organic cyclic compound (GO:0071407)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|placenta development (GO:0001890)|positive regulation of cell size (GO:0045793)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein folding (GO:0006457)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to salt stress (GO:0009651)|response to unfolded protein (GO:0006986)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP binding (GO:0002135)|dATP binding (GO:0032564)|double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|poly(A) RNA binding (GO:0044822)|TPR domain binding (GO:0030911)|UTP binding (GO:0002134)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ATCTTCTGGCTTTTCCCTTGA	0.527																																						ENST00000371554.1																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33						c.(2002-2004)ttfs		heat shock protein 90kDa alpha (cytosolic), class B member 1							332.0	336.0	334.0					6																	44221052		2203	4300	6503	SO:0001589	frameshift_variant	3326				axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding	g.chr6:44221052delT	AF275719	CCDS4909.1	6p12	2011-09-02	2006-02-24	2006-02-24	ENSG00000096384	ENSG00000096384		"""Heat shock proteins / HSPC"""	5258	protein-coding gene	gene with protein product		140572	"""heat shock 90kD protein 1, beta"", ""heat shock 90kDa protein 1, beta"""	HSPC2, HSPCB		2768249, 16269234	Standard	NM_001271969		Approved		uc031sor.1	P08238	OTTHUMG00000014761	ENST00000371554.1:c.2002delT	6.37:g.44221052delT	ENSP00000360609:p.Phe668fs					HSP90AB1_ENST00000353801.3_Frame_Shift_Del_p.F668fs|HSP90AB1_ENST00000371646.5_Frame_Shift_Del_p.F668fs	p.F668fs			P08238	HS90B_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		11	2216	+	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		668					B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6	Frame_Shift_Del	DEL	ENST00000371554.1	37	c.2002delT	CCDS4909.1																																																																																				0.527	HSP90AB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040730.1	NM_007355		8	3195						8	3195	---	---	---	---
TDRD6	221400	broad.mit.edu	37	6	46660414	46660415	+	Frame_Shift_Ins	INS	-	-	A	rs145334816		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr6:46660414_46660415insA	ENST00000316081.6	+	1	4549_4550	c.4549_4550insA	c.(4549-4551)gaafs	p.E1517fs	TDRD6_ENST00000544460.1_Frame_Shift_Ins_p.E1517fs	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1517					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GTATAATCCAGAAAAAAAAATG	0.351																																						ENST00000544460.1																			0				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(4549-4551)aaafs		tudor domain containing 6																																				SO:0001589	frameshift_variant	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46660414_46660415insA	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.4558dupA	6.37:g.46660423_46660423dupA	ENSP00000346065:p.Glu1517fs					TDRD6_ENST00000316081.6_Frame_Shift_Ins_p.K1517fs	p.K1517fs	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	4803_4804	+			1517					B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Frame_Shift_Ins	INS	ENST00000316081.6	37	c.4549_4550insA	CCDS34470.1																																																																																				0.351	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		9	451						9	451	---	---	---	---
SYNCRIP	10492	broad.mit.edu	37	6	86332353	86332354	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr6:86332353_86332354insT	ENST00000369622.3	-	8	1354_1355	c.854_855insA	c.(853-855)aacfs	p.N285fs	SYNCRIP_ENST00000355238.6_Frame_Shift_Ins_p.N285fs	NM_001159675.1|NM_006372.4	NP_001153147.1|NP_006363.4	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	285	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to interferon-gamma (GO:0071346)|CRD-mediated mRNA stabilization (GO:0070934)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|endoplasmic reticulum (GO:0005783)|GAIT complex (GO:0097452)|histone pre-mRNA 3'end processing complex (GO:0071204)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		AAAAGCCTCTGTTTTTTTTCTT	0.411																																						ENST00000355238.6																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(853-855)aagfs		synaptotagmin binding, cytoplasmic RNA interacting protein																																				SO:0001589	frameshift_variant	10492				CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding	g.chr6:86332353_86332354insT	AF037448	CCDS5005.1, CCDS55041.1, CCDS75491.1	6q14-q15	2013-05-23			ENSG00000135316	ENSG00000135316		"""RNA binding motif (RRM) containing"""	16918	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein Q"""					9847309, 11352648	Standard	NM_006372		Approved	NSAP1, GRY-RBP, dJ3J17.2, HNRPQ1, hnRNP-Q, HNRNPQ	uc003pla.2	O60506	OTTHUMG00000015141	ENST00000369622.3:c.855dupA	6.37:g.86332361_86332361dupT	ENSP00000358635:p.Asn285fs					SYNCRIP_ENST00000369622.3_Frame_Shift_Ins_p.K285fs	p.K285fs	NM_001159673.1|NM_001159674.1|NM_001159676.1|NM_001159677.1|NM_001253771.1	NP_001153145.1|NP_001153146.1|NP_001153148.1|NP_001153149.1|NP_001240700.1	O60506	HNRPQ_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0389)	8	1060_1061	-		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)	285			RRM 2.		E1P501|E1P502|Q53H05|Q5TCG2|Q5TCG3|Q8IW78|Q8N599|Q96LC1|Q96LC2|Q9Y583	Frame_Shift_Ins	INS	ENST00000369622.3	37	c.854_855insA	CCDS5005.1																																																																																				0.411	SYNCRIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041396.1	NM_006372		8	757						8	757	---	---	---	---
EPB41L2	2037	broad.mit.edu	37	6	131191073	131191075	+	In_Frame_Del	DEL	CTG	CTG	-	rs147222924		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr6:131191073_131191075delCTG	ENST00000337057.3	-	15	2416_2418	c.2235_2237delCAG	c.(2233-2238)agcagt>agt	p.745_746SS>S	EPB41L2_ENST00000530757.1_Intron|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000524581.1_In_Frame_Del_p.123_124SS>S|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000530481.1_In_Frame_Del_p.675_676SS>S|EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000527659.1_In_Frame_Del_p.675_676SS>S|EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000368128.2_In_Frame_Del_p.745_746SS>S|EPB41L2_ENST00000527411.1_In_Frame_Del_p.675_676SS>S|EPB41L2_ENST00000529208.1_In_Frame_Del_p.675_676SS>S	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	745					cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CTCACTCTCACTGCTGCTGCTGC	0.562																																						ENST00000337057.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44						c.(2233-2238)agt>ag		erythrocyte membrane protein band 4.1-like 2																																				SO:0001651	inframe_deletion	2037				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity	g.chr6:131191073_131191075delCTG	AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.2235_2237delCAG	6.37:g.131191082_131191084delCTG	ENSP00000338481:p.Ser746del					EPB41L2_ENST00000527411.1_In_Frame_Del_p.SS675del|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000524581.1_In_Frame_Del_p.SS123del|EPB41L2_ENST00000530757.1_Intron|EPB41L2_ENST00000368128.2_In_Frame_Del_p.SS745del|EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000530481.1_In_Frame_Del_p.SS675del|EPB41L2_ENST00000529208.1_In_Frame_Del_p.SS675del|EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000527659.1_In_Frame_Del_p.SS675del|EPB41L2_ENST00000528282.1_Intron	p.SS745del	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)	15	2416_2418	-	Breast(56;0.0639)		745					B4DHI8|E9PPD9|Q5T4F0|Q68DV2	In_Frame_Del	DEL	ENST00000337057.3	37	c.2235_2237delCAG	CCDS5141.1																																																																																				0.562	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042204.3			11	485						11	485	---	---	---	---
TMEM184A	202915	broad.mit.edu	37	7	1586662	1586663	+	In_Frame_Ins	INS	-	-	GCC	rs3837151|rs3779607	byFrequency	TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr7:1586662_1586663insGCC	ENST00000297477.5	-	9	1483_1484	c.1167_1168insGGC	c.(1165-1170)cccagc>cccGGCagc	p.389_390PS>PGS	TMEM184A_ENST00000449955.1_5'Flank	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	389			S -> G (in dbSNP:rs3779607). {ECO:0000269|PubMed:15489334}.		germ-line sex determination (GO:0018992)|regulation of protein localization (GO:0032880)|regulation of secretion (GO:0051046)	early endosome membrane (GO:0031901)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		GAGCCGCCGCTGGGGTGGGTGC	0.703																																						ENST00000297477.5																			0				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12						c.(1165-1170)ccgcgg>ccGGCgcgg		transmembrane protein 184A				1912,2170		535,842,664						-3.6	0.0		dbSNP_132	17	3872,4214		1028,1816,1199	no	coding	TMEM184A	NM_001097620.1		1563,2658,1863	A1A1,A1R,RR		47.8852,46.8398,47.5345				5784,6384				SO:0001652	inframe_insertion	202915					integral to membrane		g.chr7:1586662_1586663insGCC		CCDS43537.1	7p22.3	2008-05-02			ENSG00000164855	ENSG00000164855			28797	protein-coding gene	gene with protein product						12477932	Standard	NM_001097620		Approved	MGC9712	uc003skv.4	Q6ZMB5	OTTHUMG00000119025	ENST00000297477.5:c.1167_1168insGGC	7.37:g.1586662_1586663insGCC	ENSP00000297477:p.Pro389_Ser390insGly						p.389_390PR>PAR	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)	9	1483_1484	-		Ovarian(82;0.0253)	389					Q8TBQ6	In_Frame_Ins	INS	ENST00000297477.5	37	c.1167_1168insGGC	CCDS43537.1																																																																																				0.703	TMEM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239229.4	NM_152689		11	193						11	193	---	---	---	---
PURB	5814	broad.mit.edu	37	7	44924131	44924131	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr7:44924131delA	ENST00000395699.2	-	1	829	c.817delT	c.(817-819)tgcfs	p.C273fs	MIR4657_ENST00000578157.1_RNA|RP4-673M15.1_ENST00000608450.1_RNA	NM_033224.3	NP_150093.1	Q96QR8	PURB_HUMAN	purine-rich element binding protein B	273					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of myeloid cell differentiation (GO:0045637)|transcription, DNA-templated (GO:0006351)	DNA replication factor A complex (GO:0005662)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)			large_intestine(2)|lung(3)|prostate(1)|skin(1)	7						GCATACCGGCAAAAGGCGCCT	0.582																																						ENST00000395699.2																			0				large_intestine(2)|lung(3)|prostate(1)|skin(1)	7						c.(817-819)gcfs		purine-rich element binding protein B							95.0	104.0	101.0					7																	44924131		2203	4300	6503	SO:0001589	frameshift_variant	5814				regulation of myeloid cell differentiation	DNA replication factor A complex	mRNA binding|single-stranded DNA binding|transcription factor binding	g.chr7:44924131delA		CCDS5499.1	7p13	2008-07-18			ENSG00000146676	ENSG00000146676			9702	protein-coding gene	gene with protein product		608887				1448097	Standard	NM_033224		Approved	PURBETA	uc003tme.3	Q96QR8	OTTHUMG00000023578	ENST00000395699.2:c.817delT	7.37:g.44924131delA	ENSP00000379051:p.Cys273fs						p.C273fs	NM_033224.3	NP_150093.1	Q96QR8	PURB_HUMAN			1	829	-			273					A4D2L7	Frame_Shift_Del	DEL	ENST00000395699.2	37	c.817delT	CCDS5499.1																																																																																				0.582	PURB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251332.2	NM_033224		7	1076						7	1076	---	---	---	---
VKORC1L1	154807	broad.mit.edu	37	7	65419353	65419354	+	3'UTR	INS	-	-	TTA	rs71982071|rs368976580|rs113545826|rs35431841	byFrequency	TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr7:65419353_65419354insTTA	ENST00000360768.3	+	0	702_703				VKORC1L1_ENST00000434382.2_In_Frame_Ins_p.171_172insI	NM_001284342.1|NM_173517.4	NP_001271271.1|NP_775788.2	Q8N0U8	VKORL_HUMAN	vitamin K epoxide reductase complex, subunit 1-like 1						cellular response to oxidative stress (GO:0034599)|peptidyl-glutamic acid carboxylation (GO:0017187)|vitamin K metabolic process (GO:0042373)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	quinone binding (GO:0048038)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			large_intestine(1)|prostate(1)	2		Lung NSC(55;0.197)			Menadione(DB00170)	GCAGCAGGTTTttattattatt	0.416														1135	0.226637	0.1694	0.2882	5008	,	,		16920	0.3085		0.161	False		,,,				2504	0.2434					ENST00000434382.2																			0				large_intestine(1)|prostate(1)	2						c.(487-489)tat>TTAtat		vitamin K epoxide reductase complex, subunit 1-like 1	Menadione(DB00170)|Warfarin(DB00682)																																			SO:0001624	3_prime_UTR_variant	154807					integral to membrane		g.chr7:65419353_65419354insTTA		CCDS5529.1, CCDS64663.1	7q11.21	2013-10-07			ENSG00000196715	ENSG00000196715			21492	protein-coding gene	gene with protein product		608838				23928358	Standard	NM_001284342		Approved		uc003tul.3	Q8N0U8	OTTHUMG00000129449	ENST00000360768.3:c.*67->TTA	7.37:g.65419360_65419362dupTTA						VKORC1L1_ENST00000360768.3_3'UTR	p.162_163insL			Q8N0U8	VKORL_HUMAN			2	490_491	+		Lung NSC(55;0.197)	0					B4E222|E7ETM5|Q6AHW9|Q6TEK6	In_Frame_Ins	INS	ENST00000360768.3	37	c.487_488insTTA	CCDS5529.1																																																																																				0.416	VKORC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251612.3	NM_173517		9	68						9	68	---	---	---	---
ACTL6B	51412	broad.mit.edu	37	7	100245130	100245131	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr7:100245130_100245131insG	ENST00000160382.5	-	8	801_802	c.695_696insC	c.(694-696)ccafs	p.P232fs		NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN	actin-like 6B	232					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|nervous system development (GO:0007399)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	structural constituent of cytoskeleton (GO:0005200)|transcription coactivator activity (GO:0003713)			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TCTTCCAGTTTGGGGGGGCACC	0.609																																						ENST00000160382.5																			0				endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13						c.(694-696)caafs		actin-like 6B																																				SO:0001589	frameshift_variant	51412				chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton	g.chr7:100245130_100245131insG	AB015906	CCDS5702.1	7q22	2008-02-01	2004-07-12	2004-07-14	ENSG00000077080	ENSG00000077080			160	protein-coding gene	gene with protein product		612458	"""actin-like 6"""	ACTL6		9799793	Standard	NM_016188		Approved	BAF53B	uc003uvy.3	O94805	OTTHUMG00000159661	ENST00000160382.5:c.696dupC	7.37:g.100245137_100245137dupG	ENSP00000160382:p.Pro232fs						p.Q232fs	NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN			8	801_802	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		232					A4D2D0|O75421	Frame_Shift_Ins	INS	ENST00000160382.5	37	c.695_696insC	CCDS5702.1																																																																																				0.609	ACTL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356745.1	NM_016188		7	675						7	675	---	---	---	---
SRPK2	6733	broad.mit.edu	37	7	104844170	104844172	+	In_Frame_Del	DEL	GGT	GGT	-			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr7:104844170_104844172delGGT	ENST00000393651.3	-	3	219_221	c.132_134delACC	c.(130-135)ccaccg>ccg	p.44_45PP>P	SRPK2_ENST00000489828.1_In_Frame_Del_p.33_34PP>P|SRPK2_ENST00000357311.3_In_Frame_Del_p.33_34PP>P	NM_182692.1	NP_872634.1			SRSF protein kinase 2									p.P33P(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						CAAAggtggcggtggtggtggtg	0.552																																						ENST00000357311.3																			1	Substitution - coding silent(1)	p.P33P(1)	large_intestine(1)	NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						c.(97-102)ccg>cc		SRSF protein kinase 2																																				SO:0001651	inframe_deletion	6733				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr7:104844170_104844172delGGT	U88666	CCDS5735.1, CCDS34724.1	7q22-q31.1	2010-06-23	2010-06-23		ENSG00000135250	ENSG00000135250			11306	protein-coding gene	gene with protein product	"""SR protein kinase 2"", ""serine/arginine-rich splicing factor kinase 2"""	602980	"""SFRS protein kinase 2"""			8208298, 9472028	Standard	NM_182692		Approved	SFRSK2	uc003vcv.4	P78362	OTTHUMG00000157405	ENST00000393651.3:c.132_134delACC	7.37:g.104844179_104844181delGGT	ENSP00000377262:p.Pro47del					SRPK2_ENST00000489828.1_In_Frame_Del_p.PP35del|SRPK2_ENST00000393651.3_In_Frame_Del_p.PP46del	p.PP35del	NM_001278273.1|NM_182691.1	NP_001265202.1|NP_872633.1	P78362	SRPK2_HUMAN			2	270_272	-			35						In_Frame_Del	DEL	ENST00000393651.3	37	c.99_101delACC	CCDS34724.1																																																																																				0.552	SRPK2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348723.1	NM_182691		7	179						7	179	---	---	---	---
OR9A4	130075	broad.mit.edu	37	7	141619203	141619203	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr7:141619203delT	ENST00000548136.1	+	1	587	c.528delT	c.(526-528)aatfs	p.N176fs	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	176						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					TGGTGAACAATTTTTTTTGTG	0.383																																						ENST00000548136.1																			0				NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22						c.(526-528)aafs		olfactory receptor, family 9, subfamily A, member 4							152.0	152.0	152.0					7																	141619203		2056	4243	6299	SO:0001589	frameshift_variant	130075				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:141619203delT		CCDS43661.1	7q34	2012-10-03			ENSG00000258083	ENSG00000258083		"""GPCR / Class A : Olfactory receptors"""	15095	protein-coding gene	gene with protein product							Standard	NM_001001656		Approved		uc003vwu.1	Q8NGU2	OTTHUMG00000158370	ENST00000548136.1:c.528delT	7.37:g.141619203delT	ENSP00000448789:p.Asn176fs					MGAM_ENST00000497554.1_Intron	p.N176fs	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN			1	587	+	Melanoma(164;0.0171)		176					B9EGV6|Q6IFI4	Frame_Shift_Del	DEL	ENST00000548136.1	37	c.528delT	CCDS43661.1																																																																																				0.383	OR9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350806.3	NM_001001656		8	761						8	761	---	---	---	---
TRBV7-4	28594	broad.mit.edu	37	7	142176678	142176679	+	RNA	DEL	CA	CA	-	rs147246909		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr7:142176678_142176679delCA	ENST00000390369.2	-	0	49									T cell receptor beta variable 7-4 (gene/pseudogene)																		GTAGTCATCGCACACACACACA	0.46																																						ENST00000390369.2																			0																	118,3528		13,92,1718						-5.4	0.0			116	306,7588		28,250,3669	no	intergenic				41,342,5387	A1A1,A1R,RR		3.8764,3.2364,3.6742				424,11116						0							g.chr7:142176678_142176679delCA	L36092		7q34	2012-02-07	2008-09-12		ENSG00000253409	ENSG00000253409		"""T cell receptors / TRB locus"""	12238	other	T cell receptor gene			"""T cell receptor beta variable 7-4"""			8650574	Standard	NG_001333		Approved	TRBV74, TCRBV6S8A2T, TCRBV7S4			OTTHUMG00000158508		7.37:g.142176688_142176689delCA														0	49	-									RNA	DEL	ENST00000390369.2	37																																																																																						0.460	TRBV7-4-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351214.2	NG_001333		12	286						12	286	---	---	---	---
WDR60	55112	broad.mit.edu	37	7	158704353	158704353	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr7:158704353delA	ENST00000407559.3	+	12	1731	c.1573delA	c.(1573-1575)aaafs	p.K526fs		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	526					cell projection organization (GO:0030030)	cilium (GO:0005929)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		AAACTTTGGGAAAAAAAATAC	0.328																																						ENST00000407559.3																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35						c.(1573-1575)aafs		WD repeat domain 60																																				SO:0001589	frameshift_variant	55112							g.chr7:158704353delA		CCDS47757.1	7q36.3	2013-11-15			ENSG00000126870	ENSG00000126870		"""WD repeat domain containing"""	21862	protein-coding gene	gene with protein product		615462				23910462	Standard	NM_018051		Approved	FLJ10300, FAP163	uc003woe.4	Q8WVS4	OTTHUMG00000151443	ENST00000407559.3:c.1573delA	7.37:g.158704353delA	ENSP00000384290:p.Lys526fs						p.K526fs	NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)	12	1731	+	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	526					Q9NW58	Frame_Shift_Del	DEL	ENST00000407559.3	37	c.1573delA	CCDS47757.1																																																																																				0.328	WDR60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322668.1	NM_018051		7	337						7	337	---	---	---	---
MCPH1	79648	broad.mit.edu	37	8	6289099	6289099	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr8:6289099delA	ENST00000344683.5	+	4	389	c.313delA	c.(313-315)aaafs	p.K107fs	MCPH1_ENST00000519480.1_Frame_Shift_Del_p.K107fs|MCPH1_ENST00000522905.1_Frame_Shift_Del_p.K107fs	NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1	107					cerebral cortex development (GO:0021987)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)		AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		AAGCCTAATTAAAAAAAAAGT	0.274																																					Colon(95;1448 1467 8277 34473 35819)	ENST00000344683.5																		AGPAT5/MCPH1(2)	0				central_nervous_system(1)|large_intestine(4)|skin(1)	6						c.(313-315)aafs		microcephalin 1							83.0	81.0	82.0					8																	6289099		1811	4070	5881	SO:0001589	frameshift_variant	79648					microtubule organizing center		g.chr8:6289099delA	AK022909	CCDS43689.1, CCDS55190.1, CCDS55191.1	8p23.1	2012-11-26	2007-11-26		ENSG00000147316	ENSG00000147316			6954	protein-coding gene	gene with protein product	"""BRCT-repeat inhibitor of TERT expression 1"""	607117	"""microcephaly, primary autosomal recessive 1"""			9683597, 17925396	Standard	NM_024596		Approved	FLJ12847, BRIT1	uc003wqi.3	Q8NEM0	OTTHUMG00000163618	ENST00000344683.5:c.313delA	8.37:g.6289099delA	ENSP00000342924:p.Lys107fs					MCPH1_ENST00000519480.1_Frame_Shift_Del_p.K107fs|MCPH1_ENST00000522905.1_Frame_Shift_Del_p.K107fs	p.K107fs	NM_024596.3	NP_078872.2	Q8NEM0	MCPH1_HUMAN		Colorectal(4;0.0505)	4	389	+		Hepatocellular(245;0.0663)	107					B4DWW2|E9PGU5|E9PH63|Q66GU1|Q9H9C7	Frame_Shift_Del	DEL	ENST00000344683.5	37	c.313delA	CCDS43689.1																																																																																				0.274	MCPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374532.2	NM_024596		13	439						13	439	---	---	---	---
PRKDC	5591	broad.mit.edu	37	8	48746799	48746799	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr8:48746799delT	ENST00000314191.2	-	60	8163	c.8107delA	c.(8107-8109)aggfs	p.R2703fs	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Frame_Shift_Del_p.R2703fs	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2704	KIP-binding.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	AGGCCCAGCCTTTTTTTCCCA	0.498								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(8107-8109)ggfs	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							248.0	251.0	250.0					8																	48746799		1981	4176	6157	SO:0001589	frameshift_variant	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48746799delT		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.8107delA	8.37:g.48746799delT	ENSP00000313420:p.Arg2703fs					PRKDC_ENST00000338368.3_Frame_Shift_Del_p.R2703fs|PRKDC_ENST00000523565.1_5'UTR	p.R2703fs	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			60	8163	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	2704			KIP-binding.		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Frame_Shift_Del	DEL	ENST00000314191.2	37	c.8107delA																																																																																					0.498	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		8	2054						8	2054	---	---	---	---
KIF24	347240	broad.mit.edu	37	9	34257623	34257623	+	Frame_Shift_Del	DEL	T	T	-	rs570788521	byFrequency	TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr9:34257623delT	ENST00000402558.2	-	10	2006	c.1982delA	c.(1981-1983)aagfs	p.K661fs	KIF24_ENST00000379166.2_Frame_Shift_Del_p.K661fs|KIF24_ENST00000379174.3_Frame_Shift_Del_p.K527fs|KIF24_ENST00000345050.2_Frame_Shift_Del_p.K527fs			Q5T7B8	KIF24_HUMAN	kinesin family member 24	661					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)	centriole (GO:0005814)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.K143fs*34(1)|p.K661fs*34(1)		breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			CTCTTCTGGCTTTTTTTTGGC	0.527													TTTTTTTT|TTTTTTTT|TTTTTTT|deletion	3	0.000599042	0.0	0.0043	5008	,	,		23710	0.0		0.0	False		,,,				2504	0.0					ENST00000379166.2																			2	Deletion - Frameshift(2)	p.K143fs*34(1)|p.K661fs*34(1)	large_intestine(2)	breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(1981-1983)agfs		kinesin family member 24							65.0	65.0	65.0					9																	34257623		2203	4300	6503	SO:0001589	frameshift_variant	347240				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:34257623delT	AK001795	CCDS6551.2	9p13.3	2013-01-10			ENSG00000186638	ENSG00000186638		"""Kinesins"", ""Sterile alpha motif (SAM) domain containing"""	19916	protein-coding gene	gene with protein product		613747	"""chromosome 9 open reading frame 48"""	C9orf48		12477932	Standard	NM_194313		Approved	bA571F15.4, FLJ10933, FLJ43884	uc003zua.4	Q5T7B8	OTTHUMG00000019810	ENST00000402558.2:c.1982delA	9.37:g.34257623delT	ENSP00000384433:p.Lys661fs					KIF24_ENST00000379174.3_Frame_Shift_Del_p.K527fs|KIF24_ENST00000402558.2_Frame_Shift_Del_p.K661fs|KIF24_ENST00000345050.2_Frame_Shift_Del_p.K527fs	p.K661fs	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)		11	2101	-			661					Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Frame_Shift_Del	DEL	ENST00000402558.2	37	c.1982delA	CCDS6551.2																																																																																				0.527	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052150.5			8	382						8	382	---	---	---	---
FAM166B	730112	broad.mit.edu	37	9	35562393	35562394	+	Frame_Shift_Ins	INS	-	-	TAGT	rs142582869|rs72402422|rs3068510	byFrequency	TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr9:35562393_35562394insTAGT	ENST00000399742.2	-	5	792_793	c.722_723insACTA	c.(721-723)tatfs	p.Y241fs	FAM166B_ENST00000492890.1_5'UTR	NM_001099951.2|NM_001164310.1	NP_001093421.1|NP_001157782.1	A8MTA8	F166B_HUMAN	family with sequence similarity 166, member B	241								p.Y225fs*1(1)		kidney(3)|large_intestine(1)|lung(4)|ovary(1)	9						CGTAGCCCCCATAGTTAGGTAA	0.564														577	0.115216	0.0628	0.0663	5008	,	,		14357	0.2252		0.0437	False		,,,				2504	0.181					ENST00000399742.2																			1	Insertion - Frameshift(1)	p.Y225fs*1(1)	large_intestine(1)	kidney(3)|large_intestine(1)|lung(4)|ovary(1)	9						c.(721-723)tggfs		family with sequence similarity 166, member B			,	210,3366		15,180,1593					,	-2.7	1.0		dbSNP_130	24	274,7576		6,262,3657	no	frameshift,utr-3	FAM166B	NM_001164310.1,NM_001099951.2	,	21,442,5250	A1A1,A1R,RR		3.4904,5.8725,4.236	,	,		484,10942				SO:0001589	frameshift_variant	730112							g.chr9:35562393_35562394insTAGT	BC129999	CCDS47963.1, CCDS56572.1	9p13.3	2008-06-10			ENSG00000215187	ENSG00000215187			34242	protein-coding gene	gene with protein product							Standard	NM_001099951		Approved		uc010mkr.3	A8MTA8	OTTHUMG00000019858	ENST00000399742.2:c.719_722dupACTA	9.37:g.35562394_35562397dupTAGT	ENSP00000382646:p.Tyr241fs					FAM166B_ENST00000492890.1_5'UTR	p.W241fs	NM_001099951.2|NM_001164310.1	NP_001093421.1|NP_001157782.1	A8MTA8	F166B_HUMAN			5	792_793	-			241					A1L3B2|B7ZBJ0	Frame_Shift_Ins	INS	ENST00000399742.2	37	c.722_723insACTA	CCDS56572.1																																																																																				0.564	FAM166B-005	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336563.1	NM_001099951		11	41						11	41	---	---	---	---
ECM2	1842	broad.mit.edu	37	9	95277146	95277148	+	In_Frame_Del	DEL	TCC	TCC	-	rs137929518	byFrequency	TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr9:95277146_95277148delTCC	ENST00000344604.5	-	4	968_970	c.819_821delGGA	c.(817-822)gaggat>gat	p.E273del	CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_In_Frame_Del_p.E251del	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	273	Poly-Glu.				cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						ctcctcctcatcctcctcctcct	0.606																																						ENST00000344604.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(817-822)gat>ga		extracellular matrix protein 2, female organ and adipocyte specific																																				SO:0001651	inframe_deletion	1842				cell-matrix adhesion		integrin binding	g.chr9:95277146_95277148delTCC	AB011792	CCDS6698.1, CCDS56578.1	9q22.3	2008-07-21			ENSG00000106823	ENSG00000106823			3154	protein-coding gene	gene with protein product	"""matrix glycoprotein SC1/ECM2"""	603479				9790758	Standard	NM_001393		Approved		uc011lty.2	O94769	OTTHUMG00000020226	ENST00000344604.5:c.819_821delGGA	9.37:g.95277155_95277157delTCC	ENSP00000344758:p.Glu273del					ECM2_ENST00000444490.2_In_Frame_Del_p.ED251del|CENPP_ENST00000375587.3_Intron	p.ED273del	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN			4	968_970	-			273			Poly-Glu.		B2R730|E2PU11|Q5T9F2|Q7Z3D0	In_Frame_Del	DEL	ENST00000344604.5	37	c.819_821delGGA	CCDS6698.1																																																																																				0.606	ECM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053091.1	NM_001393		12	693						12	693	---	---	---	---
AKNA	80709	broad.mit.edu	37	9	117122000	117122002	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr9:117122000_117122002delTCC	ENST00000307564.4	-	11	2525_2527	c.2364_2366delGGA	c.(2362-2367)gaggaa>gaa	p.788_789EE>E	AKNA_ENST00000374075.5_In_Frame_Del_p.707_708EE>E|AKNA_ENST00000312033.3_In_Frame_Del_p.788_789EE>E|AKNA_ENST00000374088.3_In_Frame_Del_p.788_789EE>E|AKNA_ENST00000223791.3_In_Frame_Del_p.248_249EE>E	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	788	PEST.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						TCccccctcttcctcctcctcct	0.596																																						ENST00000307564.4																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						c.(2362-2367)gaa>ga		AT-hook transcription factor																																				SO:0001651	inframe_deletion	80709				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr9:117122000_117122002delTCC	AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.2364_2366delGGA	9.37:g.117122009_117122011delTCC	ENSP00000303769:p.Glu790del					AKNA_ENST00000374088.3_In_Frame_Del_p.EE788del|AKNA_ENST00000374075.5_In_Frame_Del_p.EE707del|AKNA_ENST00000223791.3_In_Frame_Del_p.EE248del|AKNA_ENST00000312033.3_In_Frame_Del_p.EE788del	p.EE788del	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN			11	2525_2527	-			788			PEST.		Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	In_Frame_Del	DEL	ENST00000307564.4	37	c.2364_2366delGGA	CCDS6805.1																																																																																				0.596	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053767.2	NM_030767		8	452						8	452	---	---	---	---
WDR5	11091	broad.mit.edu	37	9	137019598	137019598	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr9:137019598delC	ENST00000358625.3	+	10	813	c.642delC	c.(640-642)aacfs	p.N214fs	WDR5_ENST00000425041.1_Frame_Shift_Del_p.N214fs	NM_017588.2	NP_060058.1	P61964	WDR5_HUMAN	WD repeat domain 5	214					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|histone H3-K4 methylation (GO:0051568)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|positive regulation of gluconeogenesis (GO:0045722)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|histone acetyltransferase complex (GO:0000123)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9		Myeloproliferative disorder(178;0.0255)|Medulloblastoma(224;0.123)		Epithelial(140;6.61e-13)|all cancers(34;5.66e-12)|OV - Ovarian serous cystadenocarcinoma(145;3.93e-08)|GBM - Glioblastoma multiforme(294;0.00326)|READ - Rectum adenocarcinoma(205;0.154)		ATGACGACAACCCCCCCGTGT	0.627																																						ENST00000358625.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9						c.(640-642)aafs		WD repeat domain 5							250.0	223.0	232.0					9																	137019598		2203	4300	6503	SO:0001589	frameshift_variant	11091				histone H3 acetylation|histone H3-K4 methylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|MLL1 complex|Set1C/COMPASS complex	protein binding	g.chr9:137019598delC	AJ011376	CCDS6981.1	9q34	2014-09-03			ENSG00000196363	ENSG00000196363		"""WD repeat domain containing"""	12757	protein-coding gene	gene with protein product	"""SWD3, Set1c WD40 repeat protein, homolog (S. cerevisiae)"", ""cilia and flagella associated protein 89"""	609012				11551928	Standard	XM_005272163		Approved	SWD3, CFAP89	uc004cey.3	P61964	OTTHUMG00000131707	ENST00000358625.3:c.642delC	9.37:g.137019598delC	ENSP00000351446:p.Asn214fs					WDR5_ENST00000425041.1_Frame_Shift_Del_p.N214fs	p.N214fs	NM_017588.2	NP_060058.1	P61964	WDR5_HUMAN		Epithelial(140;6.61e-13)|all cancers(34;5.66e-12)|OV - Ovarian serous cystadenocarcinoma(145;3.93e-08)|GBM - Glioblastoma multiforme(294;0.00326)|READ - Rectum adenocarcinoma(205;0.154)	10	813	+		Myeloproliferative disorder(178;0.0255)|Medulloblastoma(224;0.123)	214					Q91VA5|Q9NWX7|Q9UGP9	Frame_Shift_Del	DEL	ENST00000358625.3	37	c.642delC	CCDS6981.1																																																																																				0.627	WDR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254621.1	NM_052821		12	1554						12	1554	---	---	---	---
TUBBP5	643224	broad.mit.edu	37	9	141070119	141070120	+	RNA	INS	-	-	GG			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr9:141070119_141070120insGG	ENST00000503395.1	+	0	1199_1200									tubulin, beta pseudogene 5									p.S78S(1)									TCTGTGCGCTCGGGGCCCTTCG	0.678																																						ENST00000503395.1																			1	Substitution - coding silent(1)	p.S78S(1)	urinary_tract(1)																																																0							g.chr9:141070119_141070120insGG	AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141070122_141070123dupGG														0	1199_1200	+									RNA	INS	ENST00000503395.1	37																																																																																						0.678	TUBBP5-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373087.1	NR_027156		7	472						7	472	---	---	---	---
MYO3A	53904	broad.mit.edu	37	10	26462760	26462760	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr10:26462760delA	ENST00000265944.5	+	30	3733	c.3567delA	c.(3565-3567)ccafs	p.P1189fs	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1189					ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.M1192fs*1(2)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						ATCAGACTCCAAAAAAAATGA	0.403																																						ENST00000265944.5																			2	Deletion - Frameshift(2)	p.M1192fs*1(2)	ovary(1)|large_intestine(1)	NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.(3565-3567)ccfs		myosin IIIA							67.0	66.0	67.0					10																	26462760		2203	4300	6503	SO:0001589	frameshift_variant	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26462760delA	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.3567delA	10.37:g.26462760delA	ENSP00000265944:p.Pro1189fs					MYO3A_ENST00000543632.1_Intron	p.P1189fs	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN			30	3733	+			1189					Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Frame_Shift_Del	DEL	ENST00000265944.5	37	c.3567delA	CCDS7148.1																																																																																				0.403	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		8	290						8	290	---	---	---	---
CPXM2	119587	broad.mit.edu	37	10	125528165	125528167	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr10:125528165_125528167delCAG	ENST00000241305.3	-	9	1328_1330	c.1174_1176delCTG	c.(1174-1176)ctgdel	p.L392del	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	392	Poly-Leu.				cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CGAACTGCACCAGCAGCAGCAGC	0.626																																						ENST00000241305.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47						c.(1174-1176)del		carboxypeptidase X (M14 family), member 2																																				SO:0001651	inframe_deletion	119587				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:125528165_125528167delCAG	AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase"""					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.1174_1176delCTG	10.37:g.125528174_125528176delCAG	ENSP00000241305:p.Leu392del					CPXM2_ENST00000368854.3_5'UTR	p.L392del	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)	9	1328_1330	-		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)	392			Poly-Leu.		B4E3Q2	In_Frame_Del	DEL	ENST00000241305.3	37	c.1174_1176delCTG	CCDS7637.1																																																																																				0.626	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	NM_198148		7	822						7	822	---	---	---	---
DCHS1	8642	broad.mit.edu	37	11	6662142	6662142	+	Frame_Shift_Del	DEL	G	G	-	rs188153920	byFrequency	TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr11:6662142delG	ENST00000299441.3	-	2	1114	c.703delC	c.(703-705)cggfs	p.R236fs		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	236	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGGCCCTCCGGGGGGGTGAA	0.587																																						ENST00000299441.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103						c.(703-705)ggfs		dachsous cadherin-related 1							100.0	101.0	101.0					11																	6662142		2201	4296	6497	SO:0001589	frameshift_variant	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6662142delG	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.703delC	11.37:g.6662142delG	ENSP00000299441:p.Arg236fs						p.R236fs	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	1114	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	236			Cadherin 2.		O15098	Frame_Shift_Del	DEL	ENST00000299441.3	37	c.703delC	CCDS7771.1																																																																																				0.587	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		7	909						7	909	---	---	---	---
SPON1	10418	broad.mit.edu	37	11	14276276	14276277	+	RNA	DEL	GT	GT	-	rs144833103		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr11:14276276_14276277delGT	ENST00000310358.7	+	0	1627							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion (GO:0007155)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		GACCTATGAGGTGTGTGTGTGT	0.594																																						ENST00000310358.7																			0				NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21								spondin 1, extracellular matrix protein				1,106,4101		0,0,1,3,100,2000						5.7	1.0		dbSNP_134	77	4,167,8025		0,0,4,1,165,3928	no	splice-5	SPON1	NM_006108.3		0,0,5,4,265,5928	A1A1,A1A2,A1R,A2A2,A2R,RR		2.0864,2.5428,2.2412				5,273,12126						10418				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding	g.chr11:14276276_14276277delGT	AB018305	CCDS73262.1	11p15.2	2014-05-06	2004-03-05		ENSG00000152268	ENSG00000262655			11252	protein-coding gene	gene with protein product		604989	"""spondin 1, (f-spondin) extracellular matrix protein"""			9872452	Standard	NM_006108		Approved	KIAA0762, f-spondin	uc001mle.3	Q9HCB6	OTTHUMG00000181576		11.37:g.14276286_14276287delGT										Q9HCB6	SPON1_HUMAN		Epithelial(150;0.00898)	0	1627	+								A8K6W5|O94862|Q8NCD7|Q8WUR5	RNA	DEL	ENST00000310358.7	37																																																																																						0.594	SPON1-201	KNOWN	basic	processed_transcript	processed_transcript		NM_145584		10	335						10	335	---	---	---	---
MRPL49	740	broad.mit.edu	37	11	64888248	64888250	+	5'Flank	DEL	TCT	TCT	-	rs1065065		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr11:64888248_64888250delTCT	ENST00000279242.2	+	0	0				MRPL49_ENST00000534078.1_5'Flank|FAU_ENST00000531743.1_In_Frame_Del_p.K102del|FAU_ENST00000529259.1_3'UTR|FAU_ENST00000529639.1_In_Frame_Del_p.K102del|MRPL49_ENST00000526171.1_5'Flank|FAU_ENST00000279259.3_In_Frame_Del_p.E83del|FAU_ENST00000525297.1_In_Frame_Del_p.K67del|MRPL49_ENST00000531705.1_5'Flank|FAU_ENST00000527548.1_In_Frame_Del_p.K102del	NM_004927.3	NP_004918.1	Q13405	RM49_HUMAN	mitochondrial ribosomal protein L49						translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	structural constituent of ribosome (GO:0003735)			endometrium(1)|ovary(1)	2						GCCCGACCTGTCTTCTTCTTCTT	0.542																																						ENST00000529639.1																			0				NS(3)|kidney(1)|large_intestine(2)	6						c.(304-309)aca>a		Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV) ubiquitously expressed																																				SO:0001631	upstream_gene_variant	2197							g.chr11:64888248_64888250delTCT		CCDS8096.1	11q13.1	2012-11-14	2001-10-16	2001-10-19	ENSG00000149792	ENSG00000149792		"""Mitochondrial ribosomal proteins / large subunits"""	1176	protein-coding gene	gene with protein product	"""neighbor of FAU"", ""next to FAU"""	606866	"""chromosome 11 open reading frame 4"""	C11orf4		8786148	Standard	NM_004927		Approved	NOF, NOF1, L49mt	uc001oda.2	Q13405	OTTHUMG00000165608		11.37:g.64888257_64888259delTCT	Exception_encountered					FAU_ENST00000279259.3_In_Frame_Del_p.ED83del|FAU_ENST00000529259.1_3'UTR|FAU_ENST00000531743.1_In_Frame_Del_p.KT102del|FAU_ENST00000525297.1_In_Frame_Del_p.KT67del|FAU_ENST00000527548.1_In_Frame_Del_p.KT102del	p.KT102del	NM_001997.4	NP_001988.1	P35544	UBIM_HUMAN			5	696_698	-			0					B2R4G6	In_Frame_Del	DEL	ENST00000279242.2	37	c.305_307delAGA	CCDS8096.1																																																																																				0.542	MRPL49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385293.1	NM_004927		20	854						20	854	---	---	---	---
TAF1D	79101	broad.mit.edu	37	11	93471452	93471453	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr11:93471452_93471453insT	ENST00000448108.2	-	3	931_932	c.281_282insA	c.(280-282)aagfs	p.K94fs	TAF1D_ENST00000546088.1_5'Flank	NM_024116.3	NP_077021.1	Q9H5J8	TAF1D_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa	94					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	microtubule organizing center (GO:0005815)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			large_intestine(1)|lung(3)|prostate(1)|skin(2)	7						TCCTCTTTTTCTTTTTTTTATA	0.347																																						ENST00000448108.2																			0				large_intestine(1)|lung(3)|prostate(1)|skin(2)	7						c.(280-282)aaafs		TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa																																				SO:0001589	frameshift_variant	79101				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr11:93471452_93471453insT		CCDS8293.1	11q21	2012-05-30	2008-09-30	2008-09-30	ENSG00000166012	ENSG00000166012			28759	protein-coding gene	gene with protein product		612823	"""Josephin domain containing 3"""	JOSD3		15520167, 17318177	Standard	NM_024116		Approved	MGC5306, TAF(I)41	uc001pec.3	Q9H5J8	OTTHUMG00000167451	ENST00000448108.2:c.282dupA	11.37:g.93471460_93471460dupT	ENSP00000410409:p.Lys94fs						p.K94fs	NM_024116.3	NP_077021.1	Q9H5J8	TAF1D_HUMAN			3	931_932	-			94					Q6I9Y6	Frame_Shift_Ins	INS	ENST00000448108.2	37	c.281_282insA	CCDS8293.1																																																																																				0.347	TAF1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394662.2	NM_024116		7	884						7	884	---	---	---	---
ACSM4	341392	broad.mit.edu	37	12	7456935	7456935	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr12:7456935delT	ENST00000399422.4	+	1	56	c.8delT	c.(7-9)attfs	p.I3fs		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	3					acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty-acyl-CoA synthase activity (GO:0004321)|metal ion binding (GO:0046872)			endometrium(6)|kidney(1)|lung(14)	21						ACCATGAAGATTTTTTTCCGC	0.473																																						ENST00000399422.4																			0				endometrium(6)|kidney(1)|lung(14)	21						c.(7-9)atfs		acyl-CoA synthetase medium-chain family member 4							134.0	130.0	131.0					12																	7456935		1881	4115	5996	SO:0001589	frameshift_variant	341392				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr12:7456935delT		CCDS44825.1	12p13.31	2008-06-12			ENSG00000215009	ENSG00000215009		"""Acyl-CoA synthetase family"""	32016	protein-coding gene	gene with protein product	"""similar to olfactory specific medium-chain acyl CoA synthetase"""	614360				17762044	Standard	NM_001080454		Approved		uc001qsx.1	P0C7M7	OTTHUMG00000154975	ENST00000399422.4:c.8delT	12.37:g.7456935delT	ENSP00000382349:p.Ile3fs						p.I3fs	NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN			1	56	+			3					A8MTI6	Frame_Shift_Del	DEL	ENST00000399422.4	37	c.8delT	CCDS44825.1																																																																																				0.473	ACSM4-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337866.2	NM_001080454		8	1006						8	1006	---	---	---	---
STRAP	11171	broad.mit.edu	37	12	16047015	16047015	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr12:16047015delA	ENST00000419869.2	+	5	751	c.438delA	c.(436-438)atafs	p.I146fs	STRAP_ENST00000025399.6_Frame_Shift_Del_p.I159fs|STRAP_ENST00000538352.1_Frame_Shift_Del_p.I52fs	NM_007178.3	NP_009109.3	Q9Y3F4	STRAP_HUMAN	serine/threonine kinase receptor associated protein	146					maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|spliceosomal snRNP assembly (GO:0000387)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	15		Hepatocellular(102;0.121)				CTTCTGGTATAAAAAAAGCTC	0.294																																						ENST00000419869.2																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	15						c.(436-438)atfs		serine/threonine kinase receptor associated protein							103.0	116.0	112.0					12																	16047015		2203	4300	6503	SO:0001589	frameshift_variant	11171				mRNA processing|RNA splicing	cell junction|mitochondrion|spliceosomal complex	identical protein binding	g.chr12:16047015delA	AB024327	CCDS8676.1	12p13.1	2013-01-10			ENSG00000023734	ENSG00000023734		"""WD repeat domain containing"""	30796	protein-coding gene	gene with protein product	"""Unr-interacting protein"""	605986					Standard	NM_007178		Approved	UNRIP, pt-wd, MAWD	uc001rdc.4	Q9Y3F4	OTTHUMG00000168791	ENST00000419869.2:c.438delA	12.37:g.16047015delA	ENSP00000392270:p.Ile146fs					STRAP_ENST00000025399.6_Frame_Shift_Del_p.I159fs|STRAP_ENST00000538352.1_Frame_Shift_Del_p.I52fs	p.I146fs	NM_007178.3	NP_009109.3	Q9Y3F4	STRAP_HUMAN			5	751	+		Hepatocellular(102;0.121)	146					B2R5S5|B4DNJ6|Q5TZT4|Q9NTK0|Q9UQC8	Frame_Shift_Del	DEL	ENST00000419869.2	37	c.438delA	CCDS8676.1																																																																																				0.294	STRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401114.1	NM_007178		10	704						10	704	---	---	---	---
SCAF11	9169	broad.mit.edu	37	12	46318575	46318577	+	In_Frame_Del	DEL	GGT	GGT	-			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr12:46318575_46318577delGGT	ENST00000369367.3	-	12	4073_4075	c.3840_3842delACC	c.(3838-3843)ccaccc>ccc	p.1280_1281PP>P	SCAF11_ENST00000550629.1_5'Flank|SCAF11_ENST00000419565.2_In_Frame_Del_p.1280_1281PP>P|SCAF11_ENST00000549162.1_In_Frame_Del_p.1088_1089PP>P|SCAF11_ENST00000465950.1_In_Frame_Del_p.965_966PP>P	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	1280	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						TGGGGGAGGGGGTGGTGGTGGTG	0.483																																						ENST00000465950.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						c.(2893-2898)ccc>cc		SR-related CTD-associated factor 11																																				SO:0001651	inframe_deletion	9169				spliceosome assembly	nucleus	protein binding|zinc ion binding	g.chr12:46318575_46318577delGGT	Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"""RING-type (C3HC4) zinc fingers"""	10784	protein-coding gene	gene with protein product		603668	"""splicing factor, arginine/serine-rich 2, interacting protein"", ""serine/arginine-rich splicing factor 2, interacting protein"""	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.3840_3842delACC	12.37:g.46318584_46318586delGGT	ENSP00000358374:p.Pro1285del					SCAF11_ENST00000549162.1_In_Frame_Del_p.PP1092del|SCAF11_ENST00000419565.2_In_Frame_Del_p.PP1284del|SCAF11_ENST00000369367.3_In_Frame_Del_p.PP1284del	p.PP969del			Q99590	SCAFB_HUMAN			2	4104_4106	-			1284			Arg-rich.		A6NEU9|A6NLW5|Q8IW59	In_Frame_Del	DEL	ENST00000369367.3	37	c.2895_2897delACC	CCDS8748.2																																																																																				0.483	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719		10	459						10	459	---	---	---	---
SMARCC2	6601	broad.mit.edu	37	12	56558379	56558381	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr12:56558379_56558381delAGG	ENST00000267064.4	-	27	3360_3362	c.3274_3276delCCT	c.(3274-3276)cctdel	p.P1092del	RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Intron|SMARCC2_ENST00000394023.3_Intron|SMARCC2_ENST00000550164.1_In_Frame_Del_p.P1123del	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	1092	Pro-rich.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TGGATGGAGCAGGAGGAGGAGGA	0.591																																						ENST00000550164.1																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41						c.(3367-3369)del		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2																																				SO:0001651	inframe_deletion	6601				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr12:56558379_56558381delAGG	U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.3274_3276delCCT	12.37:g.56558388_56558390delAGG	ENSP00000267064:p.Pro1092del					SMARCC2_ENST00000394023.3_Intron|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000267064.4_In_Frame_Del_p.P1092del|SMARCC2_ENST00000347471.4_Intron	p.P1123del			Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		28	3381_3383	-			1092	HGHHHHLPFA -> MGSPPSPVR (in Ref. 1; AAC50694).		Pro-rich.		F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	In_Frame_Del	DEL	ENST00000267064.4	37	c.3367_3369delCCT	CCDS8907.1																																																																																				0.591	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			7	214						7	214	---	---	---	---
TSC22D1	8848	broad.mit.edu	37	13	45148691	45148693	+	In_Frame_Del	DEL	TGT	TGT	-	rs148625973|rs541782956	byFrequency	TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr13:45148691_45148693delTGT	ENST00000458659.2	-	1	2008_2010	c.1518_1520delACA	c.(1516-1521)caacag>cag	p.506_507QQ>Q	TSC22D1_ENST00000501704.2_In_Frame_Del_p.506_507QQ>Q|TSC22D1_ENST00000460842.1_5'Flank	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	506	Gln-rich.				negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		TGgttgttgctgttgttgttgtt	0.502														87	0.0173722	0.0598	0.0086	5008	,	,		24285	0.0		0.0	False		,,,				2504	0.002					ENST00000458659.2																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1516-1521)cag>ca		TSC22 domain family, member 1																																				SO:0001651	inframe_deletion	8848				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr13:45148691_45148693delTGT	AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804			16826	protein-coding gene	gene with protein product		607715	"""transforming growth factor beta 1 induced transcript 4"""	TGFB1I4		8651929, 9022669	Standard	NM_183422		Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.1518_1520delACA	13.37:g.45148700_45148702delTGT	ENSP00000397435:p.Gln509del					TSC22D1_ENST00000501704.2_In_Frame_Del_p.QQ508del	p.QQ508del	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)	1	2008_2010	-		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)	508			Gln-rich.		B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	In_Frame_Del	DEL	ENST00000458659.2	37	c.1518_1520delACA	CCDS31966.1																																																																																				0.502	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044743.2	NM_006022		8	777						8	777	---	---	---	---
DIAPH3	81624	broad.mit.edu	37	13	60582733	60582734	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr13:60582733_60582734insT	ENST00000400324.4	-	9	1178_1179	c.958_959insA	c.(958-960)attfs	p.I320fs	DIAPH3_ENST00000377908.2_Frame_Shift_Ins_p.I309fs|DIAPH3_ENST00000400330.1_Frame_Shift_Ins_p.I320fs|DIAPH3_ENST00000400320.1_Frame_Shift_Ins_p.I274fs|DIAPH3_ENST00000267215.4_Frame_Shift_Ins_p.I320fs|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400319.1_Frame_Shift_Ins_p.I250fs	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	320	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		AAATCTGTCAATTTTTTTTTCT	0.322																																						ENST00000400324.4																			0				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(958-960)tgafs		diaphanous-related formin 3			,	3,3461		0,3,1729					,	5.8	0.8			86	6,7780		0,6,3887	no	frameshift,frameshift	DIAPH3	NM_030932.3,NM_001042517.1	,	0,9,5616	A1A1,A1R,RR		0.0771,0.0866,0.08	,	,		9,11241				SO:0001589	frameshift_variant	81624				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr13:60582733_60582734insT	AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"""diaphanous (Drosophila, homolog) 3"", ""auditory neuropathy, autosomal dominant 1"", ""diaphanous homolog 3 (Drosophila)"""	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.959dupA	13.37:g.60582742_60582742dupT	ENSP00000383178:p.Ile320fs					DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400319.1_Frame_Shift_Ins_p.*250fs|DIAPH3_ENST00000400320.1_Frame_Shift_Ins_p.*274fs|DIAPH3_ENST00000400330.1_Frame_Shift_Ins_p.*320fs|DIAPH3_ENST00000377908.2_Frame_Shift_Ins_p.*309fs|DIAPH3_ENST00000267215.4_Frame_Shift_Ins_p.*320fs	p.*320fs	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN		GBM - Glioblastoma multiforme(99;2.77e-05)	9	1178_1179	-		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)	320			GBD/FH3.		A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Frame_Shift_Ins	INS	ENST00000400324.4	37	c.958_959insA	CCDS41898.1																																																																																				0.322	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3	NM_001042517		14	706						14	706	---	---	---	---
FBXL3	26224	broad.mit.edu	37	13	77581683	77581683	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr13:77581683delA	ENST00000355619.5	-	5	1208	c.884delT	c.(883-885)ttafs	p.L295fs	FBXL3_ENST00000477982.1_Intron	NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN	F-box and leucine-rich repeat protein 3	295					entrainment of circadian clock by photoperiod (GO:0043153)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.L295fs*3(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)		GBM - Glioblastoma multiforme(99;0.0521)		TTCTTCATATAAAAAAAAATA	0.418																																						ENST00000355619.5																			1	Insertion - Frameshift(1)	p.L295fs*3(1)	lung(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16						c.(883-885)tafs		F-box and leucine-rich repeat protein 3							72.0	73.0	72.0					13																	77581683		2203	4300	6503	SO:0001589	frameshift_variant	26224				regulation of circadian rhythm|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr13:77581683delA	AF129532	CCDS9457.1	13q22	2011-06-09	2004-07-20	2004-07-21	ENSG00000005812	ENSG00000005812		"""F-boxes / Leucine-rich repeats"""	13599	protein-coding gene	gene with protein product		605653	"""F-box and leucine-rich repeat protein 3A"""	FBXL3A		10531035, 10828603	Standard	NM_012158		Approved	FBL3, FBL3A	uc001vkd.3	Q9UKT7	OTTHUMG00000017099	ENST00000355619.5:c.884delT	13.37:g.77581683delA	ENSP00000347834:p.Leu295fs					FBXL3_ENST00000477982.1_Intron	p.L295fs	NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN		GBM - Glioblastoma multiforme(99;0.0521)	5	1208	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)	295					B2RB04|Q9P122	Frame_Shift_Del	DEL	ENST00000355619.5	37	c.884delT	CCDS9457.1																																																																																				0.418	FBXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045312.3			10	377						10	377	---	---	---	---
KDELC1	79070	broad.mit.edu	37	13	103443722	103443722	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr13:103443722delT	ENST00000376004.4	-	5	1067	c.731delA	c.(730-732)aagfs	p.K245fs	KDELC1_ENST00000460338.1_5'UTR	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1	245						endoplasmic reticulum lumen (GO:0005788)				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					ATTGGATTTCTTTTTTTCCAA	0.418																																						ENST00000376004.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19						c.(730-732)agfs		KDEL (Lys-Asp-Glu-Leu) containing 1							203.0	218.0	213.0					13																	103443722		2203	4300	6503	SO:0001589	frameshift_variant	79070					endoplasmic reticulum lumen		g.chr13:103443722delT	BC001297	CCDS9504.1	13q33	2010-11-18			ENSG00000134901	ENSG00000134901			19350	protein-coding gene	gene with protein product		611613					Standard	NM_024089		Approved	MGC5302, EP58	uc001vpq.4	Q6UW63	OTTHUMG00000017307	ENST00000376004.4:c.731delA	13.37:g.103443722delT	ENSP00000365172:p.Lys245fs					KDELC1_ENST00000460338.1_5'UTR	p.K245fs	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN			5	1067	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		245					Q53HL3|Q9BVD2	Frame_Shift_Del	DEL	ENST00000376004.4	37	c.731delA	CCDS9504.1																																																																																				0.418	KDELC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045699.1			7	1616						7	1616	---	---	---	---
LRP10	26020	broad.mit.edu	37	14	23341527	23341529	+	In_Frame_Del	DEL	CCT	CCT	-	rs528863117		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr14:23341527_23341529delCCT	ENST00000359591.4	+	1	706_708	c.15_17delCCT	c.(13-18)accctc>acc	p.L11del	LRP10_ENST00000546834.1_In_Frame_Del_p.L11del	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	11					endocytosis (GO:0006897)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		TGTTGGCCACCCTCCTCCTCCTC	0.67																																						ENST00000359591.4																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32						c.(13-18)acc>ac		low density lipoprotein receptor-related protein 10																																				SO:0001651	inframe_deletion	26020				endocytosis	coated pit|integral to membrane		g.chr14:23341527_23341529delCCT	AF131760	CCDS9578.1	14q11.2	2013-05-29			ENSG00000197324	ENSG00000197324		"""Low density lipoprotein receptors"""	14553	protein-coding gene	gene with protein product		609921				11123907	Standard	XM_005267510		Approved	DKFZP564C1940, MGC8675, LRP9, MST087, MSTP087	uc001whd.3	Q7Z4F1	OTTHUMG00000028705	ENST00000359591.4:c.15_17delCCT	14.37:g.23341536_23341538delCCT	ENSP00000352601:p.Leu11del					LRP10_ENST00000546834.1_In_Frame_Del_p.TL5del	p.TL5del	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN		GBM - Glioblastoma multiforme(265;0.00549)	1	706_708	+	all_cancers(95;4.69e-05)		5					A8K4R5|D3DS31|O95882|Q14CK7|Q86T02|Q8NCZ4|Q9HC42|Q9UG33	In_Frame_Del	DEL	ENST00000359591.4	37	c.15_17delCCT	CCDS9578.1																																																																																				0.670	LRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071663.3			7	647						7	647	---	---	---	---
IL25	64806	broad.mit.edu	37	14	23845057	23845058	+	Frame_Shift_Del	DEL	TG	TG	-	rs569851542		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr14:23845057_23845058delTG	ENST00000329715.2	+	2	760_761	c.502_503delTG	c.(502-504)tgtfs	p.C168fs	CMTM5_ENST00000359320.3_5'Flank|CMTM5_ENST00000397227.3_5'Flank|CMTM5_ENST00000555731.1_5'Flank|IL25_ENST00000397242.2_Frame_Shift_Del_p.C152fs|CMTM5_ENST00000342473.4_5'Flank|CMTM5_ENST00000339180.4_5'Flank|CMTM5_ENST00000382809.2_5'Flank	NM_022789.3	NP_073626.1	Q9H293	IL25_HUMAN	interleukin 25	168					eosinophil differentiation (GO:0030222)|inflammatory response to antigenic stimulus (GO:0002437)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to fungus (GO:0009620)|response to nematode (GO:0009624)	extracellular space (GO:0005615)	interleukin-17E receptor binding (GO:0030380)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)		TTCCTTAGCTTGTGTGTGTGTG	0.604																																						ENST00000329715.2																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9						c.(502-504)tfs		interleukin 25																																				SO:0001589	frameshift_variant	0				inflammatory response	extracellular space|membrane	cytokine activity|interleukin-17E receptor binding	g.chr14:23845057_23845058delTG	AF305200	CCDS9597.1, CCDS45086.1	14q11.2	2008-01-07	2006-05-17	2006-05-17	ENSG00000166090	ENSG00000166090		"""Interleukins and interleukin receptors"""	13765	protein-coding gene	gene with protein product		605658	"""interleukin 17E"""	IL17E		11058597, 11754819	Standard	NM_172314		Approved	IL-25, IL-17E	uc001wjq.3	Q9H293	OTTHUMG00000028749	ENST00000329715.2:c.502_503delTG	14.37:g.23845067_23845068delTG	ENSP00000328111:p.Cys168fs					IL25_ENST00000397242.2_Frame_Shift_Del_p.C152fs	p.C168fs	NM_022789.3	NP_073626.1	Q9H293	IL25_HUMAN		GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)	2	760_761	+	all_cancers(95;2e-05)		168					Q2M3F0|Q8IZV3|Q8WXB0	Frame_Shift_Del	DEL	ENST00000329715.2	37	c.502_503delTG	CCDS9597.1																																																																																				0.604	IL25-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071789.2			11	813						11	813	---	---	---	---
PSMA6	5687	broad.mit.edu	37	14	35782216	35782216	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr14:35782216delA	ENST00000261479.4	+	5	659	c.539delA	c.(538-540)gaafs	p.E180fs	PSMA6_ENST00000556506.1_Frame_Shift_Del_p.E180fs|KIAA0391_ENST00000557565.1_3'UTR|PSMA6_ENST00000540871.1_Frame_Shift_Del_p.E161fs|PSMA6_ENST00000553809.1_Frame_Shift_Del_p.E186fs|PSMA6_ENST00000555764.1_Frame_Shift_Del_p.E101fs	NM_002791.1	NP_002782.1	P60900	PSA6_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 6	180					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of inflammatory response (GO:0050727)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|myofibril (GO:0030016)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysome (GO:0005844)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)|sarcomere (GO:0030017)	endopeptidase activity (GO:0004175)|NF-kappaB binding (GO:0051059)|purine ribonucleoside triphosphate binding (GO:0035639)|RNA binding (GO:0003723)|threonine-type endopeptidase activity (GO:0004298)			kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1)	10	Breast(36;0.0519)|Hepatocellular(127;0.158)		Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)		AGCTTCCTTGAAAAAAAAGTG	0.403																																						ENST00000261479.4																			0				kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1)	10						c.(538-540)gafs		proteasome (prosome, macropain) subunit, alpha type, 6							102.0	111.0	108.0					14																	35782216		2203	4300	6503	SO:0001589	frameshift_variant	5687				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere	NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity	g.chr14:35782216delA	X59417	CCDS9655.1, CCDS61437.1, CCDS61438.1	14q13	2003-03-12			ENSG00000100902	ENSG00000100902		"""Proteasome (prosome, macropain) subunits"""	9535	protein-coding gene	gene with protein product		602855				1888762, 8811196	Standard	NM_002791		Approved	IOTA, PROS27, p27K, MGC22756, MGC2333, MGC23846	uc001wtd.3	P60900	OTTHUMG00000140221	ENST00000261479.4:c.539delA	14.37:g.35782216delA	ENSP00000261479:p.Glu180fs					PSMA6_ENST00000556506.1_Frame_Shift_Del_p.E180fs|PSMA6_ENST00000555764.1_Frame_Shift_Del_p.E101fs|PSMA6_ENST00000553809.1_Frame_Shift_Del_p.E186fs|PSMA6_ENST00000540871.1_Frame_Shift_Del_p.E161fs|KIAA0391_ENST00000557565.1_3'UTR	p.E180fs	NM_002791.1	NP_002782.1	P60900	PSA6_HUMAN	Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)	5	659	+	Breast(36;0.0519)|Hepatocellular(127;0.158)		180					B2R7J9|B4DQR4|B4DXJ9|P34062|Q6IB60	Frame_Shift_Del	DEL	ENST00000261479.4	37	c.539delA	CCDS9655.1																																																																																				0.403	PSMA6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276684.1			8	837						8	837	---	---	---	---
FERMT2	10979	broad.mit.edu	37	14	53339633	53339633	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr14:53339633delT	ENST00000395631.2	-	10	1373	c.1157delA	c.(1156-1158)aagfs	p.K386fs	FERMT2_ENST00000341590.3_Frame_Shift_Del_p.K386fs|FERMT2_ENST00000553373.1_Frame_Shift_Del_p.K386fs|FERMT2_ENST00000343279.4_Frame_Shift_Del_p.K386fs|FERMT2_ENST00000399304.3_Frame_Shift_Del_p.K386fs			Q96AC1	FERM2_HUMAN	fermitin family member 2	386	FERM.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|focal adhesion assembly (GO:0048041)|integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|protein localization to membrane (GO:0072657)|regulation of cell shape (GO:0008360)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|stress fiber (GO:0001725)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)		ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					CAGAGTCAGCTTTTTTGGCCT	0.343																																						ENST00000395631.2																		ERO1L/FERMT2(2)	0				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20						c.(1156-1158)agfs		fermitin family member 2							146.0	132.0	137.0					14																	53339633		2203	4300	6503	SO:0001589	frameshift_variant	10979				actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytosol|focal adhesion|stress fiber	binding	g.chr14:53339633delT	Z24725	CCDS9713.1, CCDS45107.1, CCDS45108.1	14q22.1	2013-01-10	2010-06-24	2007-12-14	ENSG00000073712	ENSG00000073712		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	15767	protein-coding gene	gene with protein product	"""kindlin-2"""	607746	"""pleckstrin homology domain containing, family C (with FERM domain) member 1"", ""fermitin family homolog 2 (Drosophila)"""	PLEKHC1		8175911, 12697302	Standard	NM_006832		Approved	mig-2, KIND2, UNC112B	uc001xac.3	Q96AC1	OTTHUMG00000140309	ENST00000395631.2:c.1157delA	14.37:g.53339633delT	ENSP00000378993:p.Lys386fs					FERMT2_ENST00000399304.3_Frame_Shift_Del_p.K386fs|FERMT2_ENST00000341590.3_Frame_Shift_Del_p.K386fs|FERMT2_ENST00000553373.1_Frame_Shift_Del_p.K386fs|FERMT2_ENST00000343279.4_Frame_Shift_Del_p.K386fs	p.K386fs			Q96AC1	FERM2_HUMAN			10	1373	-	Breast(41;0.0342)		386			FERM.|PH.		B5TJY2|Q14840|Q86TY7	Frame_Shift_Del	DEL	ENST00000395631.2	37	c.1157delA	CCDS9713.1																																																																																				0.343	FERMT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276907.2	NM_006832		7	496						7	496	---	---	---	---
TMED10	10972	broad.mit.edu	37	14	75601711	75601712	+	Splice_Site	INS	-	-	A	rs200389497	byFrequency	TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr14:75601711_75601712insA	ENST00000303575.4	-	5	590		c.e5-2		RP11-950C14.7_ENST00000556236.1_RNA|TMED10_ENST00000557670.1_Splice_Site	NM_006827.5	NP_006818.3	P49755	TMEDA_HUMAN	transmembrane emp24-like trafficking protein 10 (yeast)						beta-amyloid formation (GO:0034205)|cargo loading into vesicle (GO:0035459)|COPI coating of Golgi vesicle (GO:0048205)|COPI-coated vesicle budding (GO:0035964)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|kidney development (GO:0001822)|protein oligomerization (GO:0051259)|regulated secretory pathway (GO:0045055)|response to acid chemical (GO:0001101)|response to alkaloid (GO:0043279)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle targeting, to, from or within Golgi (GO:0048199)	cis-Golgi network (GO:0005801)|COPI-coated vesicle (GO:0030137)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|gamma-secretase complex (GO:0070765)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)|trans-Golgi network transport vesicle (GO:0030140)|zymogen granule membrane (GO:0042589)	syntaxin binding (GO:0019905)			endometrium(1)|large_intestine(5)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(234;0.0126)		TTGTTGACTCTAAAAAAAAACA	0.426																																						ENST00000303575.4																			0				endometrium(1)|large_intestine(5)|lung(3)	9						c.e5-2		transmembrane emp24-like trafficking protein 10 (yeast)																																				SO:0001630	splice_region_variant	10972				protein transport|regulated secretory pathway|vesicle targeting, to, from or within Golgi	cis-Golgi network|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|melanosome|microsome|zymogen granule membrane	protein binding	g.chr14:75601711_75601712insA	AL832012, X97442	CCDS9840.1	14q24.3	2008-08-11			ENSG00000170348	ENSG00000170348			16998	protein-coding gene	gene with protein product		605406				7596406, 8663407	Standard	NM_006827		Approved	TMP21, P24(DELTA)	uc001xrm.1	P49755		ENST00000303575.4:c.539-2->T	14.37:g.75601720_75601720dupA						TMED10_ENST00000557670.1_Splice_Site|RP11-950C14.7_ENST00000556236.1_RNA		NM_006827.5	NP_006818.3	P49755	TMEDA_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0126)	5	590	-								B2R605|Q15602|Q16536|Q86TC2|Q86TS5	Splice_Site	INS	ENST00000303575.4	37		CCDS9840.1																																																																																				0.426	TMED10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415034.1	NM_006827	Intron	10	377						10	377	---	---	---	---
CHGA	1113	broad.mit.edu	37	14	93397924	93397926	+	In_Frame_Del	DEL	GAG	GAG	-	rs371215355|rs575196921	byFrequency	TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr14:93397924_93397926delGAG	ENST00000216492.5	+	6	965_967	c.685_687delGAG	c.(685-687)gagdel	p.E236del	CHGA_ENST00000553866.1_3'UTR|CHGA_ENST00000334654.4_Intron	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN	chromogranin A (parathyroid secretory protein 1)	236					regulation of blood pressure (GO:0008217)	extracellular region (GO:0005576)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|secretory granule (GO:0030141)				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		AAAGAGAgaagaggaggaggagg	0.645														31	0.0061901	0.0197	0.0029	5008	,	,		19158	0.001		0.0	False		,,,				2504	0.002				Colon(31;154 822 45066 49155)|NSCLC(28;804 1157 13734 25204)	ENST00000216492.5																			0				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8						c.(685-687)del		chromogranin A (parathyroid secretory protein 1)																																				SO:0001651	inframe_deletion	1113				regulation of blood pressure	extracellular region|stored secretory granule		g.chr14:93397924_93397926delGAG		CCDS9906.1	14q32	2012-10-02			ENSG00000100604	ENSG00000100604			1929	protein-coding gene	gene with protein product	"""vasostatin"", ""pancreastatin"", ""parastatin"""	118910				3403545	Standard	NM_001275		Approved		uc001ybc.4	P10645		ENST00000216492.5:c.685_687delGAG	14.37:g.93397933_93397935delGAG	ENSP00000216492:p.Glu236del					CHGA_ENST00000334654.4_Intron|CHGA_ENST00000553866.1_3'UTR	p.E236del	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)	6	965_967	+		all_cancers(154;0.0843)	236					B2R9E9|Q53FA8|Q6NR84|Q96E84|Q96GL7|Q9BQB5	In_Frame_Del	DEL	ENST00000216492.5	37	c.685_687delGAG	CCDS9906.1																																																																																				0.645	CHGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412411.1	NM_001275		8	242						8	242	---	---	---	---
INF2	64423	broad.mit.edu	37	14	105174270	105174271	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr14:105174270_105174271insG	ENST00000392634.4	+	8	1778_1779	c.1666_1667insG	c.(1666-1668)cggfs	p.R556fs	INF2_ENST00000330634.7_Frame_Shift_Ins_p.R556fs	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	556	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		CAGCCATCGGCGGGTGAACCCA	0.663																																						ENST00000392634.4																			0				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(1666-1668)ggtfs		inverted formin, FH2 and WH2 domain containing																																				SO:0001589	frameshift_variant	64423				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding	g.chr14:105174270_105174271insG	AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"""inverted formin 2"""	610982	"""chromosome 14 open reading frame 151"", ""chromosome 14 open reading frame 173"""	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.1669dupG	14.37:g.105174273_105174273dupG	ENSP00000376410:p.Arg556fs					INF2_ENST00000330634.7_Frame_Shift_Ins_p.G556fs	p.G556fs	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)	8	1778_1779	+		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	556			FH2.		Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Frame_Shift_Ins	INS	ENST00000392634.4	37	c.1666_1667insG	CCDS9989.2																																																																																				0.663	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000074371.4	NM_022489		9	406						9	406	---	---	---	---
IGHV3-48	28424	broad.mit.edu	37	14	106993939	106993941	+	RNA	DEL	TAC	TAC	-	rs199815306|rs144292224	byFrequency	TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr14:106993939_106993941delTAC	ENST00000390624.2	-	0	302_304									immunoglobulin heavy variable 3-48																		TAGTATATGGTACTACTACTACT	0.502																																						ENST00000390624.2																			0																	307,3283		14,279,1502						-5.2	0.0		dbSNP_134	157	272,7558		29,214,3672	no	intergenic				43,493,5174	A1A1,A1R,RR		3.4738,8.5515,5.0701				579,10841						0							g.chr14:106993939_106993941delTAC	M99675		14q32.33	2012-02-08			ENSG00000211964	ENSG00000211964		"""Immunoglobulins / IGH locus"""	5606	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151959		14.37:g.106993948_106993950delTAC														0	302_304	-									RNA	DEL	ENST00000390624.2	37																																																																																						0.502	IGHV3-48-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324605.1	NG_001019		10	1226						10	1226	---	---	---	---
GOLGA8DP	100132979	broad.mit.edu	37	15	22709287	22709288	+	RNA	DEL	AG	AG	-			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr15:22709287_22709288delAG	ENST00000314246.8	-	0	1157				RN7SL545P_ENST00000495815.2_RNA			Q0D2H9	GOG8D_HUMAN	golgin A8 family, member D, pseudogene							Golgi apparatus (GO:0005794)											CAaaaaaaaaagaaaagaaaag	0.515																																						ENST00000314246.8																			0																																																			0							g.chr15:22709287_22709288delAG			15q11.2	2014-04-10	2011-04-15	2010-02-12	ENSG00000185182	ENSG00000185182			32376	pseudogene	pseudogene			"""golgi autoantigen, golgin subfamily a, 8D"""	GOLGA8D		12477932	Standard	NR_027407		Approved		uc010axw.2	Q0D2H9	OTTHUMG00000171882		15.37:g.22709287_22709288delAG														0	1157	-									RNA	DEL	ENST00000314246.8	37																																																																																						0.515	GOLGA8DP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415613.1	NR_027407		7	306						7	306	---	---	---	---
EIF3J	8669	broad.mit.edu	37	15	44829395	44829397	+	Start_Codon_Del	DEL	GGC	GGC	-			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr15:44829395_44829397delGGC	ENST00000535391.1	+	0	15_17				EIF3J_ENST00000424492.3_Start_Codon_Del|EIF3J_ENST00000261868.5_Start_Codon_Del|EIF3J-AS1_ENST00000313807.4_lincRNA					eukaryotic translation initiation factor 3, subunit J											endometrium(1)|large_intestine(5)|liver(2)|skin(1)	9		all_cancers(109;2.81e-14)|all_epithelial(112;2.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;3.13e-20)|GBM - Glioblastoma multiforme(94;9.81e-07)|COAD - Colon adenocarcinoma(120;0.0754)|Colorectal(105;0.0758)		GGCTCGAGATggcggcggcggcg	0.719																																						ENST00000261868.5																			0				endometrium(1)|large_intestine(5)|liver(2)|skin(1)	9								eukaryotic translation initiation factor 3, subunit J				1,1,72,3298		0,0,0,1,0,0,1,8,56,1620						4.4	1.0			13	26,28,170,6976		4,0,0,18,1,0,26,11,148,3392	no	codingComplex	EIF3J	NM_003758.2		4,0,0,19,1,0,27,19,204,5012	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		3.1111,2.1945,2.8188				27,29,242,10274				SO:0001582	initiator_codon_variant	8669					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr15:44829395_44829397delGGC	U97670	CCDS10111.1, CCDS61612.1, CCDS61613.1	15q21.1	2014-05-13	2007-07-27	2007-07-27	ENSG00000104131	ENSG00000104131			3270	protein-coding gene	gene with protein product		603910	"""eukaryotic translation initiation factor 3, subunit 1 alpha, 35kDa"""	EIF3S1		9822659	Standard	NM_001284335		Approved	eIF3-p35, eIF3-alpha, eIF3j	uc001ztv.3	O75822	OTTHUMG00000131158		15.37:g.44829404_44829406delGGC						EIF3J_ENST00000535391.1_Start_Codon_Del|EIF3J_ENST00000424492.3_Start_Codon_Del		NM_003758.2	NP_003749.2	O75822	EIF3J_HUMAN		all cancers(107;3.13e-20)|GBM - Glioblastoma multiforme(94;9.81e-07)|COAD - Colon adenocarcinoma(120;0.0754)|Colorectal(105;0.0758)	0	141_143	+		all_cancers(109;2.81e-14)|all_epithelial(112;2.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)							Translation_Start_Site	DEL	ENST00000535391.1	37																																																																																						0.719	EIF3J-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000396804.1	NM_003758		8	122						8	122	---	---	---	---
IL16	3603	broad.mit.edu	37	15	81592162	81592164	+	In_Frame_Del	DEL	CCT	CCT	-	rs562825970		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr15:81592162_81592164delCCT	ENST00000302987.4	+	13	2495_2497	c.2495_2497delCCT	c.(2494-2499)gcctcc>gcc	p.S838del	IL16_ENST00000394652.2_In_Frame_Del_p.S137del|IL16_ENST00000560230.1_3'UTR|IL16_ENST00000394660.2_In_Frame_Del_p.S838del			Q14005	IL16_HUMAN	interleukin 16	838					immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.S792delS(1)|p.S838delS(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						CACATCCGGGcctcctcctcctc	0.586																																						ENST00000394660.2																			2	Deletion - In frame(2)	p.S792delS(1)|p.S838delS(1)	large_intestine(2)	NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						c.(2494-2499)gcc>g		interleukin 16			,,	50,2,4208		3,0,44,0,2,2081					,,	3.2	0.1			40	99,6,8147		7,0,85,0,6,4028	no	codingComplex,codingComplex,codingComplex	IL16	NM_172217.3,NM_004513.5,NM_001172128.1	,,	10,0,129,0,8,6109	A1A1,A1A2,A1R,A2A2,A2R,RR		1.2724,1.2207,1.2548	,,	,,		149,8,12355				SO:0001651	inframe_deletion	3603				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	g.chr15:81592162_81592164delCCT	U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"""Interleukins and interleukin receptors"""	5980	protein-coding gene	gene with protein product	"""prointerleukin 16"", ""lymphocyte chemoattractant factor"""	603035	"""interleukin 16 (lymphocyte chemoattractant factor)"""			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.2495_2497delCCT	15.37:g.81592171_81592173delCCT	ENSP00000302935:p.Ser838del					IL16_ENST00000302987.4_In_Frame_Del_p.AS832del|IL16_ENST00000560230.1_3'UTR|IL16_ENST00000394652.2_In_Frame_Del_p.AS131del	p.AS832del	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN			14	2855_2857	+			832					A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	In_Frame_Del	DEL	ENST00000302987.4	37	c.2495_2497delCCT	CCDS42069.1																																																																																				0.586	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		7	330						7	330	---	---	---	---
BLM	641	broad.mit.edu	37	15	91304138	91304139	+	Frame_Shift_Ins	INS	-	-	A	rs367543043		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr15:91304138_91304139insA	ENST00000355112.3	+	7	1653_1654	c.1535_1536insA	c.(1534-1539)ggaaaafs	p.GK512fs	BLM_ENST00000560509.1_Frame_Shift_Ins_p.GK512fs	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	512	Necessary for interaction with SPIDR.				alpha-beta T cell differentiation (GO:0046632)|ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell division (GO:0051782)|negative regulation of DNA recombination (GO:0045910)|negative regulation of mitotic recombination (GO:0045950)|negative regulation of thymocyte apoptotic process (GO:0070244)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of transcription, DNA-templated (GO:0045893)|protein oligomerization (GO:0051259)|regulation of binding (GO:0051098)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to X-ray (GO:0010165)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear chromosome (GO:0000228)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|pronucleus (GO:0045120)|replication fork (GO:0005657)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent helicase activity (GO:0008026)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|p53 binding (GO:0002039)|single-stranded DNA binding (GO:0003697)	p.N515fs*16(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			CCAAGACTAGGAAAAAAAAATG	0.371			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome																													ENST00000355112.3			yes	Rec		Bloom Syndrome	15	15q26.1	641	"""Mis, N, F"""	Bloom Syndrome			"""L, E"""		"""leukemia, lymphoma, skin squamous cell , other cancers"""			1	Deletion - Frameshift(1)	p.N515fs*16(1)	ovary(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(1534-1536)gaafs	Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome, RecQ helicase-like																																				SO:0001589	frameshift_variant	641	Bloom syndrome	Familial Cancer Database		double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding	g.chr15:91304138_91304139insA	U39817	CCDS10363.1, CCDS73782.1	15q26.1	2014-09-17	2009-03-19		ENSG00000197299	ENSG00000197299			1058	protein-coding gene	gene with protein product		604610	"""Bloom syndrome"""			9388193	Standard	NM_000057		Approved	BS, RECQL3, RECQ2	uc002bpr.3	P54132	OTTHUMG00000149834	ENST00000355112.3:c.1544dupA	15.37:g.91304147_91304147dupA	ENSP00000347232:p.Gly512fs					BLM_ENST00000560509.1_Frame_Shift_Ins_p.E512fs	p.E512fs	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Lung(145;0.189)		7	1653_1654	+	Lung NSC(78;0.0875)|all_lung(78;0.109)		512					Q52M96	Frame_Shift_Ins	INS	ENST00000355112.3	37	c.1535_1536insA	CCDS10363.1																																																																																				0.371	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313495.1			8	439						8	439	---	---	---	---
VPS33B	26276	broad.mit.edu	37	15	91550236	91550238	+	In_Frame_Del	DEL	TCC	TCC	-	rs147271815		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr15:91550236_91550238delTCC	ENST00000333371.3	-	9	995_997	c.642_644delGGA	c.(640-645)gaggat>gat	p.E214del	VPS33B_ENST00000535843.1_In_Frame_Del_p.E123del|VPS33B_ENST00000535906.1_In_Frame_Del_p.E187del	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33 homolog B (yeast)	214					lysosome localization (GO:0032418)|melanosome localization (GO:0032400)|membrane fusion (GO:0061025)|platelet alpha granule organization (GO:0070889)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule (GO:0031091)				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	Lung NSC(78;0.0987)|all_lung(78;0.175)					GGTTTCGCCATCCTCCTCCTCCT	0.522																																						ENST00000333371.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16						c.(640-645)gat>ga		vacuolar protein sorting 33 homolog B (yeast)																																				SO:0001651	inframe_deletion	26276				cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis	late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule	protein binding	g.chr15:91550236_91550238delTCC	AF201694	CCDS10369.1, CCDS73783.1	15q26.1	2006-12-19	2006-12-19		ENSG00000184056	ENSG00000184056			12712	protein-coding gene	gene with protein product		608552	"""vacuolar protein sorting 33B (yeast homolog)"""			8996080	Standard	XM_005254887		Approved	FLJ14848	uc002bqp.1	Q9H267	OTTHUMG00000149835	ENST00000333371.3:c.642_644delGGA	15.37:g.91550245_91550247delTCC	ENSP00000327650:p.Glu214del					VPS33B_ENST00000535843.1_In_Frame_Del_p.ED123del|VPS33B_ENST00000535906.1_In_Frame_Del_p.ED187del	p.ED214del	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN			9	995_997	-	Lung NSC(78;0.0987)|all_lung(78;0.175)		214					B3KQF6|Q96K14|Q9NRP6|Q9NSF3	In_Frame_Del	DEL	ENST00000333371.3	37	c.642_644delGGA	CCDS10369.1																																																																																				0.522	VPS33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313496.1	NM_018668		8	891						8	891	---	---	---	---
SLC9A5	6553	broad.mit.edu	37	16	67300017	67300019	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr16:67300017_67300019delGAG	ENST00000299798.11	+	15	2172_2174	c.2107_2109delGAG	c.(2107-2109)gagdel	p.E708del	CTC-277H1.7_ENST00000573063.1_RNA	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	708					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		CGTGGAGTCTGAGGAGGAGGAGG	0.571																																						ENST00000299798.11																			0				breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27						c.(2107-2109)del		solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5																																				SO:0001651	inframe_deletion	6553				regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr16:67300017_67300019delGAG		CCDS42178.1	16q22.1	2013-05-22	2012-03-22		ENSG00000135740	ENSG00000135740		"""Solute carriers"""	11078	protein-coding gene	gene with protein product		600477	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 5"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 5"""			7759094, 9933642	Standard	NM_004594		Approved	NHE5	uc002esm.3	Q14940	OTTHUMG00000172935	ENST00000299798.11:c.2107_2109delGAG	16.37:g.67300026_67300028delGAG	ENSP00000299798:p.Glu708del						p.E708del	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)	15	2172_2174	+		Ovarian(137;0.0563)	708					A5PKY7|Q9Y626	In_Frame_Del	DEL	ENST00000299798.11	37	c.2107_2109delGAG	CCDS42178.1																																																																																				0.571	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421386.1			9	378						9	378	---	---	---	---
ZFHX3	463	broad.mit.edu	37	16	72991713	72991715	+	In_Frame_Del	DEL	CCA	CCA	-	rs4788682	byFrequency	TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr16:72991713_72991715delCCA	ENST00000268489.5	-	2	3002_3004	c.2330_2332delTGG	c.(2329-2334)gtggct>gct	p.V777del	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	777	Poly-Ala.		V -> A (in dbSNP:rs4788682). {ECO:0000269|PubMed:7592926}.		brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.V777V(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				gccgccgcagccaccgccgccgc	0.635																																						ENST00000268489.5																			1	Substitution - coding silent(1)	p.V777V(1)	lung(1)	NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(2329-2334)gct>g		zinc finger homeobox 3			,	1706,1886		582,542,672					,	5.5	0.1			17	4240,2792		1606,1028,882	no	coding,intron	ZFHX3	NM_006885.3,NM_001164766.1	,	2188,1570,1554	A1A1,A1R,RR		39.7042,47.4944,44.0324	,	,		5946,4678				SO:0001651	inframe_deletion	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72991713_72991715delCCA	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.2330_2332delTGG	16.37:g.72991713_72991715delCCA	ENSP00000268489:p.Val777del					ZFHX3_ENST00000397992.5_Intron	p.VA777del	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			2	3002_3004	-		Ovarian(137;0.13)	777		V -> A (in dbSNP:rs4788682).	Poly-Ala.		D3DWS8|O15101|Q13719	In_Frame_Del	DEL	ENST00000268489.5	37	c.2330_2332delTGG	CCDS10908.1																																																																																				0.635	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		17	609						17	609	---	---	---	---
RP11-252A24.2	0	broad.mit.edu	37	16	74372915	74372915	+	RNA	DEL	T	T	-	rs397827801|rs11353924|rs532713769|rs398078750		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr16:74372915delT	ENST00000429810.2	-	0	1404																											ACGTAGtttgttttttttttt	0.438																																						ENST00000429810.2																			0																																																			0							g.chr16:74372915delT																													16.37:g.74372915delT														0	1404	-									RNA	DEL	ENST00000429810.2	37																																																																																						0.438	RP11-252A24.2-003	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000434683.1			11	34						11	34	---	---	---	---
C17orf85	55421	broad.mit.edu	37	17	3721809	3721811	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr17:3721809_3721811delTCC	ENST00000389005.4	-	10	1083_1085	c.1056_1058delGGA	c.(1054-1059)gaggaa>gaa	p.352_353EE>E	C17orf85_ENST00000158149.3_In_Frame_Del_p.72_73EE>E	NM_001114118.2	NP_001107590.1	Q53F19	CQ085_HUMAN	chromosome 17 open reading frame 85	352	Glu-rich.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		ctcttcctcttcctcctcctcct	0.507																																						ENST00000158149.3																			0				endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10						c.(214-219)gaa>ga		chromosome 17 open reading frame 85																																				SO:0001651	inframe_deletion	55421						nucleotide binding	g.chr17:3721809_3721811delTCC		CCDS45578.1	17p13.2	2012-10-23			ENSG00000074356	ENSG00000074356			24612	protein-coding gene	gene with protein product	"""ELG protein"""					11412301	Standard	NM_001114118		Approved	HSA277841, ELG	uc010ckl.2	Q53F19	OTTHUMG00000177672	ENST00000389005.4:c.1056_1058delGGA	17.37:g.3721818_3721820delTCC	ENSP00000373657:p.Glu359del					C17orf85_ENST00000389005.4_In_Frame_Del_p.EE358del	p.EE78del			Q53F19	CQ085_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)	11	1111_1113	-			358					B3KWG7|Q7L406|Q96FK1|Q9NXZ4	In_Frame_Del	DEL	ENST00000389005.4	37	c.216_218delGGA	CCDS45578.1																																																																																				0.507	C17orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438385.1	NM_018553		8	525						8	525	---	---	---	---
PELP1	27043	broad.mit.edu	37	17	4608074	4608075	+	5'Flank	DEL	GT	GT	-	rs367809718		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr17:4608074_4608075delGT	ENST00000574876.1	-	0	0				PELP1_ENST00000572293.1_5'Flank|PELP1_ENST00000570823.1_5'Flank|PELP1_ENST00000269230.7_5'Flank|PELP1_ENST00000301396.4_5'Flank|RP11-314A20.2_ENST00000497885.1_RNA|PELP1_ENST00000436683.2_5'Flank			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1						cellular response to estrogen stimulus (GO:0071391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						AATCAGTAACGTGTGTGTGTGT	0.515																																						ENST00000497885.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr17:4608074_4608075delGT		CCDS58503.1, CCDS58503.2, CCDS62038.1	17p13.2	2012-05-02	2008-02-21			ENSG00000141456			30134	protein-coding gene	gene with protein product		609455	"""proline, glutamic acid and leucine rich protein 1"""			11481323, 12682072	Standard	NM_014389		Approved	MNAR	uc002fyi.4	Q8IZL8			17.37:g.4608084_4608085delGT	Exception_encountered							NR_103482.1						0	141	+								O15450|Q5EGN3|Q6NTE6|Q96FT1|Q9BU60	RNA	DEL	ENST00000574876.1	37		CCDS58503.1																																																																																				0.515	PELP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000439140.2	NM_014389		7	62						7	62	---	---	---	---
NUFIP2	57532	broad.mit.edu	37	17	27620990	27620992	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr17:27620990_27620992delGCT	ENST00000225388.4	-	1	144_146	c.86_88delAGC	c.(85-90)cagccg>ccg	p.Q29del	NUFIP2_ENST00000579665.1_In_Frame_Del_p.Q29del	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	29	His-rich.					cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			tggtggtgcggctgctgctgctg	0.591																																						ENST00000225388.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24						c.(85-90)ccg>c		nuclear fragile X mental retardation protein interacting protein 2																																				SO:0001651	inframe_deletion	57532					nucleus|polysomal ribosome	protein binding|RNA binding	g.chr17:27620990_27620992delGCT	AB037742	CCDS32600.1	17q11.1	2006-03-01				ENSG00000108256			17634	protein-coding gene	gene with protein product		609356				12837692, 16407062	Standard	NM_020772		Approved	KIAA1321, MGC117262, PIG1, 182-FIP, FIP-82, 82-FIP	uc002hdy.4	Q7Z417		ENST00000225388.4:c.86_88delAGC	17.37:g.27620999_27621001delGCT	ENSP00000225388:p.Gln29del					NUFIP2_ENST00000579665.1_In_Frame_Del_p.QP29del	p.QP29del	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)		1	144_146	-			29			His-rich.		A1L3A6|Q9P2M5	In_Frame_Del	DEL	ENST00000225388.4	37	c.86_88delAGC	CCDS32600.1																																																																																				0.591	NUFIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447015.2	NM_020772		11	556						11	556	---	---	---	---
NSRP1	84081	broad.mit.edu	37	17	28505166	28505167	+	Frame_Shift_Ins	INS	-	-	A	rs143842750	byFrequency	TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr17:28505166_28505167insA	ENST00000247026.5	+	4	312_313	c.249_250insA	c.(250-252)aaafs	p.K84fs	NSRP1_ENST00000540900.3_3'UTR	NM_001261467.1|NM_032141.3	NP_001248396.1|NP_115517.1	Q9H0G5	NSRP1_HUMAN	nuclear speckle splicing regulatory protein 1	84					developmental process (GO:0032502)|mRNA processing (GO:0006397)|nucleocytoplasmic transport (GO:0006913)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	14						ATGAAATGCAGAAAAAAAAGGA	0.332																																						ENST00000247026.5																			0				autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	14						c.(247-252)caaaaafs		nuclear speckle splicing regulatory protein 1																																				SO:0001589	frameshift_variant	84081				developmental process|nucleocytoplasmic transport|regulation of alternative nuclear mRNA splicing, via spliceosome	nuclear speck|ribonucleoprotein complex	mRNA binding|protein binding	g.chr17:28505166_28505167insA	AL136806	CCDS11255.1, CCDS74025.1	17q11.2	2011-05-24	2011-05-24	2011-05-24	ENSG00000126653	ENSG00000126653			25305	protein-coding gene	gene with protein product			"""coiled-coil domain containing 55"""	CCDC55		11230166	Standard	NM_032141		Approved	DKFZP434K1421, NSrp70	uc002heu.4	Q9H0G5	OTTHUMG00000132754	ENST00000247026.5:c.257dupA	17.37:g.28505174_28505174dupA	ENSP00000247026:p.Lys84fs					NSRP1_ENST00000540900.3_3'UTR	p.QK83fs	NM_001261467.1|NM_032141.3	NP_001248396.1|NP_115517.1	Q9H0G5	NSRP1_HUMAN			4	312_313	+			83					Q6FI71	Frame_Shift_Ins	INS	ENST00000247026.5	37	c.249_250insA	CCDS11255.1																																																																																				0.332	NSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256121.2	NM_032141		7	425						7	425	---	---	---	---
CDC27	996	broad.mit.edu	37	17	45219612	45219612	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr17:45219612delA	ENST00000066544.3	-	11	1454	c.1361delT	c.(1360-1362)ctafs	p.L454fs	CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	454					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TGCTTTTTGTAGATTAAAGGC	0.308																																						ENST00000066544.3																			0				NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						c.(1360-1362)cafs		cell division cycle 27							30.0	30.0	30.0					17																	45219612		2201	4295	6496	SO:0001589	frameshift_variant	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45219612delA	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1361delT	17.37:g.45219612delA	ENSP00000066544:p.Leu454fs					CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs	p.L454fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN			11	1454	-			454					G3V1C4|Q16349|Q96F35	Frame_Shift_Del	DEL	ENST00000066544.3	37	c.1361delT	CCDS11509.1																																																																																				0.308	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			27	239						27	239	---	---	---	---
COIL	8161	broad.mit.edu	37	17	55028016	55028016	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr17:55028016delT	ENST00000240316.4	-	2	621	c.587delA	c.(586-588)aagfs	p.K196fs		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	196	Lys-rich (basic).					Cajal body (GO:0015030)|cytoplasm (GO:0005737)|female germ cell nucleus (GO:0001674)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	disulfide oxidoreductase activity (GO:0015036)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					ATTCTTAGCCTTTTTTTTATA	0.393																																						ENST00000240316.4																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15						c.(586-588)agfs		coilin							141.0	132.0	135.0					17																	55028016		2203	4300	6503	SO:0001589	frameshift_variant	8161					Cajal body|nucleolus	protein C-terminus binding	g.chr17:55028016delT	U06632	CCDS11592.1	17q22	2012-10-02			ENSG00000121058	ENSG00000121058			2184	protein-coding gene	gene with protein product		600272				7971277	Standard	NM_004645		Approved	CLN80, p80-coilin	uc002iuu.3	P38432	OTTHUMG00000178126	ENST00000240316.4:c.587delA	17.37:g.55028016delT	ENSP00000240316:p.Lys196fs						p.K196fs	NM_004645.2	NP_004636.1	P38432	COIL_HUMAN			2	621	-	Breast(9;6.15e-08)		196			Lys-rich (basic).		B2R931	Frame_Shift_Del	DEL	ENST00000240316.4	37	c.587delA	CCDS11592.1																																																																																				0.393	COIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440618.1			11	643						11	643	---	---	---	---
COIL	8161	broad.mit.edu	37	17	55028117	55028118	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr17:55028117_55028118insT	ENST00000240316.4	-	2	519_520	c.485_486insA	c.(484-486)aacfs	p.N162fs		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	162						Cajal body (GO:0015030)|cytoplasm (GO:0005737)|female germ cell nucleus (GO:0001674)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	disulfide oxidoreductase activity (GO:0015036)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					TTTTTCTCTTGTTTTTTTTGCT	0.366																																						ENST00000240316.4																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15						c.(484-486)aaafs		coilin																																				SO:0001589	frameshift_variant	8161					Cajal body|nucleolus	protein C-terminus binding	g.chr17:55028117_55028118insT	U06632	CCDS11592.1	17q22	2012-10-02			ENSG00000121058	ENSG00000121058			2184	protein-coding gene	gene with protein product		600272				7971277	Standard	NM_004645		Approved	CLN80, p80-coilin	uc002iuu.3	P38432	OTTHUMG00000178126	ENST00000240316.4:c.486dupA	17.37:g.55028125_55028125dupT	ENSP00000240316:p.Asn162fs						p.K162fs	NM_004645.2	NP_004636.1	P38432	COIL_HUMAN			2	519_520	-	Breast(9;6.15e-08)		162					B2R931	Frame_Shift_Ins	INS	ENST00000240316.4	37	c.485_486insA	CCDS11592.1																																																																																				0.366	COIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440618.1			23	742						23	742	---	---	---	---
VEZF1	7716	broad.mit.edu	37	17	56056586	56056587	+	In_Frame_Ins	INS	-	-	TGT	rs199628152	byFrequency	TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr17:56056586_56056587insTGT	ENST00000581208.1	-	5	1104_1105	c.1064_1065insACA	c.(1063-1065)cat>caACAt	p.354_355insQ	VEZF1_ENST00000584396.1_In_Frame_Ins_p.345_346insQ	NM_007146.2	NP_009077.2	Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	354	Poly-Gln.			Missing (in Ref. 1; BAA05663). {ECO:0000305}.	angiogenesis (GO:0001525)|cellular defense response (GO:0006968)|endothelial cell development (GO:0001885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						AGCTTGTCACAtgttgttgttg	0.475														309	0.0617013	0.1483	0.0245	5008	,	,		20971	0.005		0.0169	False		,,,				2504	0.0757					ENST00000584396.1																			0				breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						c.(1036-1038)cgt>cACAgt		vascular endothelial zinc finger 1																																				SO:0001652	inframe_insertion	7716				cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr17:56056586_56056587insTGT	D28118	CCDS32687.1	17q22	2012-10-05	2006-08-16	2006-08-16	ENSG00000136451	ENSG00000136451		"""Zinc fingers, C2H2-type"""	12949	protein-coding gene	gene with protein product		606747	"""zinc finger protein 161"""	ZNF161		8035792	Standard	XM_005257643		Approved	DB1	uc002ivf.1	Q14119	OTTHUMG00000178777	ENST00000581208.1:c.1062_1064dupACA	17.37:g.56056593_56056595dupTGT	ENSP00000462337:p.Gln354_Gln354dup					VEZF1_ENST00000581208.1_In_Frame_Ins_p.355_355R>HS	p.346_346R>HS			Q14119	VEZF1_HUMAN			5	1125_1126	-			355			Poly-Gln.			In_Frame_Ins	INS	ENST00000581208.1	37	c.1037_1038insACA	CCDS32687.1																																																																																				0.475	VEZF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443321.1			7	1007						7	1007	---	---	---	---
PPM1D	8493	broad.mit.edu	37	17	58740624	58740624	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr17:58740624delA	ENST00000305921.3	+	6	1761	c.1529delA	c.(1528-1530)caafs	p.Q510fs	RNU6-623P_ENST00000363143.1_RNA	NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	510					G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of cell proliferation (GO:0008285)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)	p.N512fs*2(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			GTCATGGACCAAAAAAATTTG	0.378											OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																										ENST00000305921.3																			1	Deletion - Frameshift(1)	p.N512fs*2(1)	large_intestine(1)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15						c.(1528-1530)cafs		protein phosphatase, Mg2+/Mn2+ dependent, 1D							71.0	73.0	72.0					17																	58740624		2203	4300	6503	SO:0001589	frameshift_variant	8493				negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity	g.chr17:58740624delA	U78305	CCDS11625.1	17q23.3	2014-09-17	2010-03-05		ENSG00000170836	ENSG00000170836		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9277	protein-coding gene	gene with protein product	"""wild-type p53-induced phosphatase 1"", ""protein phosphatase 2C, delta isoform"""	605100	"""protein phosphatase 1D magnesium-dependent, delta isoform"""			9177166	Standard	NM_003620		Approved	Wip1, PP2C-DELTA	uc002iyt.2	O15297		ENST00000305921.3:c.1529delA	17.37:g.58740624delA	ENSP00000306682:p.Gln510fs		OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	1033		p.Q510fs	NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)		6	1761	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		510					Q53XP4|Q6P991|Q8IVR6	Frame_Shift_Del	DEL	ENST00000305921.3	37	c.1529delA	CCDS11625.1																																																																																				0.378	PPM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449474.1	NM_003620		7	734						7	734	---	---	---	---
LRRC37A16P	651250	broad.mit.edu	37	17	66141032	66141032	+	RNA	DEL	C	C	-	rs76883902|rs370970351|rs372081386	byFrequency	TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr17:66141032delC	ENST00000590019.1	-	0	70									leucine rich repeat containing 37, member A16, pseudogene																		AAAAAAAAAACATAAGCCAAA	0.338																																						ENST00000590019.1																			0																																																			0							g.chr17:66141032delC			17q24.2	2012-10-18				ENSG00000267023			43820	pseudogene	pseudogene							Standard	NG_023507		Approved				OTTHUMG00000180160		17.37:g.66141032delC														0	70	-									RNA	DEL	ENST00000590019.1	37																																																																																						0.338	LRRC37A16P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000450078.1			12	181						12	181	---	---	---	---
CBX4	8535	broad.mit.edu	37	17	77808241	77808243	+	In_Frame_Del	DEL	GTG	GTG	-	rs3833850		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr17:77808241_77808243delGTG	ENST00000269397.4	-	5	1375_1377	c.1198_1200delCAC	c.(1198-1200)cacdel	p.H400del		NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	400	His-rich.|Interaction with BMI1.|Poly-His.				chromatin modification (GO:0016568)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|single-stranded RNA binding (GO:0003727)|SUMO binding (GO:0032183)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGCCGACGGCgtggtggtggtgg	0.704																																						ENST00000269397.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18						c.(1198-1200)del		chromobox homolog 4																																				SO:0001651	inframe_deletion	8535				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity	g.chr17:77808241_77808243delGTG	AF013956	CCDS32758.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141582	ENSG00000141582			1554	protein-coding gene	gene with protein product	"""NS5ATP1-binding protein 16"", ""Pc class 2 homolog (Drosophila)"""	603079	"""chromobox homolog 4 (Drosophila Pc class)"""			9315667	Standard	NM_003655		Approved	hPC2, PC2, NBP16	uc002jxe.3	O00257	OTTHUMG00000150415	ENST00000269397.4:c.1198_1200delCAC	17.37:g.77808250_77808252delGTG	ENSP00000269397:p.His400del						p.H400del	NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		5	1375_1377	-			400			His-rich.|Interaction with BMI1.		B1PJR7|Q6TPI8|Q96C04	In_Frame_Del	DEL	ENST00000269397.4	37	c.1198_1200delCAC	CCDS32758.1																																																																																				0.704	CBX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318007.1	NM_003655		9	94						9	94	---	---	---	---
SLC38A10	124565	broad.mit.edu	37	17	79226066	79226066	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr17:79226066delT	ENST00000374759.3	-	13	2257	c.1874delA	c.(1873-1875)aagfs	p.K625fs	SLC38A10_ENST00000288439.5_Frame_Shift_Del_p.K625fs	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	625					amino acid transport (GO:0006865)|bone development (GO:0060348)|sodium ion transport (GO:0006814)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CCCCTTGGCCTTTTCCCCTCC	0.706																																						ENST00000374759.3																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1873-1875)agfs		solute carrier family 38, member 10							24.0	30.0	28.0					17																	79226066		2196	4289	6485	SO:0001589	frameshift_variant	124565				amino acid transport|sodium ion transport	integral to membrane		g.chr17:79226066delT	BC014642	CCDS11780.1, CCDS42397.1	17q25.3	2013-05-22			ENSG00000157637	ENSG00000157637		"""Solute carriers"""	28237	protein-coding gene	gene with protein product							Standard	XM_005257019		Approved	MGC15523, PP1744	uc002jzz.1	Q9HBR0	OTTHUMG00000168049	ENST00000374759.3:c.1874delA	17.37:g.79226066delT	ENSP00000363891:p.Lys625fs					SLC38A10_ENST00000288439.5_Frame_Shift_Del_p.K625fs	p.K625fs	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		13	2257	-	all_neural(118;0.0804)|Melanoma(429;0.242)		625					Q6ZRC5|Q8NA99|Q96C66	Frame_Shift_Del	DEL	ENST00000374759.3	37	c.1874delA	CCDS42397.1																																																																																				0.706	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397747.1	NM_138570		7	485						7	485	---	---	---	---
TRMT1	55621	broad.mit.edu	37	19	13215786	13215786	+	Frame_Shift_Del	DEL	G	G	-	rs371881044		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr19:13215786delG	ENST00000592062.1	-	18	2513	c.1943delC	c.(1942-1944)cctfs	p.P648fs	TRMT1_ENST00000221504.8_Frame_Shift_Del_p.P619fs|TRMT1_ENST00000357720.4_Frame_Shift_Del_p.P648fs|LYL1_ENST00000264824.4_5'Flank|TRMT1_ENST00000437766.1_Frame_Shift_Del_p.P648fs			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	648							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		CCCAGGTCCAGGGGGGGTCTG	0.602											OREG0025289	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000592062.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14						c.(1942-1944)ctfs		tRNA methyltransferase 1 homolog (S. cerevisiae)							103.0	118.0	113.0					19																	13215786		2203	4300	6503	SO:0001589	frameshift_variant	55621						RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding	g.chr19:13215786delG	AF196479	CCDS12293.1, CCDS45997.1	19p13.13	2012-06-12	2012-06-12						25980	protein-coding gene	gene with protein product		611669				10982862	Standard	NM_001142554		Approved	FLJ20244, TRM1	uc002mwl.3	Q9NXH9		ENST00000592062.1:c.1943delC	19.37:g.13215786delG	ENSP00000466967:p.Pro648fs		OREG0025289	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	685	TRMT1_ENST00000437766.1_Frame_Shift_Del_p.P648fs|TRMT1_ENST00000357720.4_Frame_Shift_Del_p.P648fs|TRMT1_ENST00000221504.8_Frame_Shift_Del_p.P619fs	p.P648fs			Q9NXH9	TRM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)	18	2513	-			648					O76103|Q548Y5|Q8WVA6	Frame_Shift_Del	DEL	ENST00000592062.1	37	c.1943delC	CCDS12293.1																																																																																				0.602	TRMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452780.2	NM_017722		7	1471						7	1471	---	---	---	---
PRX	57716	broad.mit.edu	37	19	40900180	40900182	+	In_Frame_Del	DEL	TCC	TCC	-	rs139624657|rs377069149|rs142743305		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr19:40900180_40900182delTCC	ENST00000324001.7	-	7	4347_4349	c.4077_4079delGGA	c.(4075-4080)gaggaa>gaa	p.1359_1360EE>E	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1359	Poly-Glu.		Missing. {ECO:0000269|PubMed:11133365}.		axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ACTGCcctcttcctcctcctcct	0.695																																						ENST00000324001.7																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47						c.(4075-4080)gaa>ga		periaxin																																				SO:0001651	inframe_deletion	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40900180_40900182delTCC	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.4077_4079delGGA	19.37:g.40900189_40900191delTCC	ENSP00000326018:p.Glu1361del					PRX_ENST00000291825.7_3'UTR	p.EE1359del	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		7	4347_4349	-			1359		Missing.	Poly-Glu.		Q9BXL9|Q9HCF2	In_Frame_Del	DEL	ENST00000324001.7	37	c.4077_4079delGGA	CCDS33028.1																																																																																				0.695	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		8	219						8	219	---	---	---	---
LIPE-AS1	100996307	broad.mit.edu	37	19	43136362	43136363	+	RNA	DEL	TG	TG	-	rs142080128		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr19:43136362_43136363delTG	ENST00000594688.1	+	0	1450				LIPE-AS1_ENST00000594624.2_RNA	NR_073179.1				LIPE antisense RNA 1																		TGAGTATGTATGTGTGTGTGTG	0.505																																						ENST00000594688.1																			0																																																			0							g.chr19:43136362_43136363delTG	AK096849, BM974950		19q13.2	2013-05-21			ENSG00000213904	ENSG00000213904		"""Long non-coding RNAs"""	48589	non-coding RNA	RNA, long non-coding							Standard	NR_073179		Approved				OTTHUMG00000182815		19.37:g.43136372_43136373delTG						LIPE-AS1_ENST00000594624.2_RNA		NR_073179.1						0	1450	+									RNA	DEL	ENST00000594688.1	37																																																																																						0.505	LIPE-AS1-004	KNOWN	basic	antisense	antisense	OTTHUMT00000464099.1	NR_073179		7	143						7	143	---	---	---	---
PVRL2	5819	broad.mit.edu	37	19	45381749	45381751	+	Intron	DEL	GAG	GAG	-	rs558397688	byFrequency	TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr19:45381749_45381751delGAG	ENST00000252483.5	+	6	1042				PVRL2_ENST00000252485.4_In_Frame_Del_p.E445del	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)						acrosome assembly (GO:0001675)|adherens junction organization (GO:0034332)|adhesion of symbiont to host (GO:0044406)|cell junction assembly (GO:0034329)|cell part morphogenesis (GO:0032990)|cell-cell junction organization (GO:0045216)|cilium organization (GO:0044782)|coreceptor-mediated virion attachment to host cell (GO:0046814)|cytoskeleton organization (GO:0007010)|establishment of mitochondrion localization (GO:0051654)|fertilization (GO:0009566)|fusion of virus membrane with host plasma membrane (GO:0019064)|homophilic cell adhesion (GO:0007156)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|sperm mitochondrion organization (GO:0030382)|spermatid development (GO:0007286)|spermatid nucleus differentiation (GO:0007289)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		TGGCAaggatgaggaggaggagg	0.591														41	0.0081869	0.0197	0.0014	5008	,	,		15541	0.003		0.003	False		,,,				2504	0.0082					ENST00000252485.4																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13						c.(1312-1314)del		poliovirus receptor-related 2 (herpesvirus entry mediator B)			,	121,4143		6,109,2017					,	-4.6	0.1			51	244,8010		12,220,3895	no	coding,intron	PVRL2	NM_002856.2,NM_001042724.1	,	18,329,5912	A1A1,A1R,RR		2.9561,2.8377,2.9158	,	,		365,12153				SO:0001627	intron_variant	5819				adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	g.chr19:45381749_45381751delGAG	X80038	CCDS12645.1, CCDS42576.1	19q13.32	2013-01-29			ENSG00000130202	ENSG00000130202		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9707	protein-coding gene	gene with protein product		600798		HVEB		7622062, 10196354	Standard	NM_001042724		Approved	PVRR2, PRR2, CD112	uc002ozw.1	Q92692	OTTHUMG00000180839	ENST00000252483.5:c.1043-3717GAG>-	19.37:g.45381758_45381760delGAG						PVRL2_ENST00000252483.5_Intron	p.E445del	NM_002856.2	NP_002847.1	Q92692	PVRL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0143)	6	1663_1665	+	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)	504					A8K5L5|O75455|Q6IBI6|Q96J29	In_Frame_Del	DEL	ENST00000252483.5	37	c.1312_1314delGAG	CCDS42576.1																																																																																				0.591	PVRL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453231.1	NM_002856		8	158						8	158	---	---	---	---
RSPH6A	81492	broad.mit.edu	37	19	46299165	46299167	+	In_Frame_Del	DEL	CCT	CCT	-	rs62639328|rs557359374	byFrequency	TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr19:46299165_46299167delCCT	ENST00000221538.3	-	6	2256_2258	c.2114_2116delAGG	c.(2113-2118)gagggc>ggc	p.E705del	RSPH6A_ENST00000597055.1_3'UTR|RSPH6A_ENST00000600188.1_In_Frame_Del_p.E441del	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	705	Glu-rich.					intracellular (GO:0005622)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						tcctcctcgccctcctcctcctc	0.586																																						ENST00000221538.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						c.(2113-2118)ggc>g		radial spoke head 6 homolog A (Chlamydomonas)																																				SO:0001651	inframe_deletion	81492					intracellular		g.chr19:46299165_46299167delCCT	AL136761	CCDS12675.1	19q13.3	2010-02-17	2009-11-18	2009-11-18	ENSG00000104941	ENSG00000104941			14241	protein-coding gene	gene with protein product		607548	"""radial spokehead-like 1"""	RSHL1		11237735	Standard	NM_030785		Approved	RSP4, RSP6, RSPH4B	uc002pdm.3	Q9H0K4		ENST00000221538.3:c.2114_2116delAGG	19.37:g.46299174_46299176delCCT	ENSP00000221538:p.Glu705del					RSPH6A_ENST00000600188.1_In_Frame_Del_p.EG441del|RSPH6A_ENST00000597055.1_3'UTR	p.EG705del	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN			6	2256_2258	-			705			Glu-rich.		Q53FE2|Q6PEZ9	In_Frame_Del	DEL	ENST00000221538.3	37	c.2114_2116delAGG	CCDS12675.1																																																																																				0.586	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461657.1			7	1024						7	1024	---	---	---	---
ZC3H4	23211	broad.mit.edu	37	19	47572401	47572403	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr19:47572401_47572403delCTC	ENST00000253048.5	-	14	2381_2383	c.2344_2346delGAG	c.(2344-2346)gagdel	p.E782del	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	782							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		TCCTCGCTCTCTCCTCCTCCTCC	0.7																																						ENST00000253048.5																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41						c.(2344-2346)del		zinc finger CCCH-type containing 4																																				SO:0001651	inframe_deletion	23211						nucleic acid binding|zinc ion binding	g.chr19:47572401_47572403delCTC	AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"""Zinc fingers, CCCH-type domain containing"""	17808	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 7"""	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.2344_2346delGAG	19.37:g.47572410_47572412delCTC	ENSP00000253048:p.Glu782del					ZC3H4_ENST00000594019.1_Intron	p.E782del	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)	14	2381_2383	-		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)	782					Q9Y420	In_Frame_Del	DEL	ENST00000253048.5	37	c.2344_2346delGAG	CCDS42582.1																																																																																				0.700	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			10	847						10	847	---	---	---	---
NAPSA	9476	broad.mit.edu	37	19	50868836	50868838	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr19:50868836_50868838delGCA	ENST00000253719.2	-	1	249_251	c.41_43delTGC	c.(40-45)ctgcct>cct	p.L14del	NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron|CTB-191K22.6_ENST00000597049.1_RNA	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	14					membrane protein proteolysis (GO:0033619)|proteolysis (GO:0006508)|surfactant homeostasis (GO:0043129)	alveolar lamellar body (GO:0097208)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	aspartic-type endopeptidase activity (GO:0004190)|endopeptidase activity (GO:0004175)|peptidase activity (GO:0008233)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		TTcagcagaggcagcagcagcag	0.596																																						ENST00000253719.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						c.(40-45)cct>c		napsin A aspartic peptidase																																				SO:0001651	inframe_deletion	9476				proteolysis	extracellular region	aspartic-type endopeptidase activity	g.chr19:50868836_50868838delGCA	AF090386	CCDS12794.1	19q13.33	2011-08-25				ENSG00000131400			13395	protein-coding gene	gene with protein product	"""kidney-derived aspartic protease-like protein"""	605631					Standard	NM_004851		Approved	NAP1, NAPA, Kdap, KAP	uc002prx.3	O96009		ENST00000253719.2:c.41_43delTGC	19.37:g.50868845_50868847delGCA	ENSP00000253719:p.Leu14del					NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron	p.LP14del	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)	1	249_251	-		all_neural(266;0.057)	14					Q8WWD9	In_Frame_Del	DEL	ENST00000253719.2	37	c.41_43delTGC	CCDS12794.1																																																																																				0.596	NAPSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464714.1	NM_004851		7	220						7	220	---	---	---	---
CNOT3	4849	broad.mit.edu	37	19	54649671	54649671	+	Frame_Shift_Del	DEL	T	T	-	rs36665	byFrequency	TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr19:54649671delT	ENST00000406403.1	+	8	2332	c.729delT	c.(727-729)cctfs	p.P244fs	CNOT3_ENST00000358389.3_Frame_Shift_Del_p.P63fs|CNOT3_ENST00000221232.5_Frame_Shift_Del_p.P244fs			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	244					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCACCTCCCCTCCCAGCCACA	0.632																																						ENST00000406403.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28						c.(727-729)ccfs		CCR4-NOT transcription complex, subunit 3							130.0	105.0	113.0					19																	54649671		2203	4300	6503	SO:0001589	frameshift_variant	4849				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr19:54649671delT	AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"""NOT3 (negative regulator of transcription 3, yeast) homolog"""	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.729delT	19.37:g.54649671delT	ENSP00000383954:p.Pro244fs					CNOT3_ENST00000221232.5_Frame_Shift_Del_p.P244fs|CNOT3_ENST00000358389.3_Frame_Shift_Del_p.P63fs	p.P244fs			O75175	CNOT3_HUMAN			8	2332	+	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		244					Q9NZN7|Q9UF76	Frame_Shift_Del	DEL	ENST00000406403.1	37	c.729delT	CCDS12880.1																																																																																				0.632	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3	NM_014516		9	510						9	510	---	---	---	---
KIR3DL1	3811	broad.mit.edu	37	19	55324675	55324675	+	Intron	DEL	A	A	-			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr19:55324675delA	ENST00000538269.1	+	2	61				KIR2DL4_ENST00000346587.4_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Frame_Shift_Del_p.K268fs|KIR2DL4_ENST00000359085.4_Frame_Shift_Del_p.K270fs|KIR3DL1_ENST00000541392.1_Intron|KIR2DL4_ENST00000396293.1_Intron|KIR2DL4_ENST00000345540.5_Intron|KIR2DL4_ENST00000463062.1_3'UTR|KIR2DL4_ENST00000357494.4_Intron			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)	p.M271fs*>3(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CTGGTGCTCCAAAAAAAAAGT	0.532																																						ENST00000396284.2																			1	Deletion - Frameshift(1)	p.M271fs*>3(1)	ovary(1)	NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	17						c.(796-798)aafs		killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4			,,	51,3917		3,45,1936	66.0	101.0	90.0		,,	-1.0	0.0	19	dbSNP_134	94	51,8005		2,47,3979	no	frameshift,frameshift,intron	KIR2DL4	NM_002255.5,NM_001080772.1,NM_001080770.1	,,	5,92,5915	A1A1,A1R,RR		0.6331,1.2853,0.8483	,,	,,	55324675	102,11922	2077	4226	6303	SO:0001627	intron_variant	0							g.chr19:55324675delA	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000538269.1:c.35-4314A>-	19.37:g.55324675delA						KIR2DL4_ENST00000463062.1_3'UTR|KIR2DL4_ENST00000396293.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR2DL4_ENST00000357494.4_Intron|KIR2DL4_ENST00000346587.4_Intron|KIR2DL4_ENST00000345540.5_Intron|KIR2DL4_ENST00000359085.4_Frame_Shift_Del_p.K270fs	p.K268fs						GBM - Glioblastoma multiforme(193;0.0192)	6	796	+								O43473|Q14946|Q16541	Frame_Shift_Del	DEL	ENST00000538269.1	37	c.796delA																																																																																					0.532	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_013289		7	180						7	180	---	---	---	---
CHGB	1114	broad.mit.edu	37	20	5903283	5903285	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr20:5903283_5903285delGAG	ENST00000378961.4	+	4	697_699	c.493_495delGAG	c.(493-495)gagdel	p.E169del		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	169	Poly-Glu.					extracellular region (GO:0005576)|secretory granule (GO:0030141)	hormone activity (GO:0005179)			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GAGAGAGGATGAGGAGGAGGAGG	0.532																																						ENST00000378961.4																			0				breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						c.(493-495)del		chromogranin B (secretogranin 1)																																				SO:0001651	inframe_deletion	1114					extracellular region	hormone activity	g.chr20:5903283_5903285delGAG		CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199			1930	protein-coding gene	gene with protein product	"""secretogranin B"""	118920		SCG1		3608978	Standard	NM_001819		Approved		uc002wmg.3	P05060	OTTHUMG00000031821	ENST00000378961.4:c.493_495delGAG	20.37:g.5903292_5903294delGAG	ENSP00000368244:p.Glu169del						p.E169del	NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN			4	697_699	+			169			Poly-Glu.		A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	In_Frame_Del	DEL	ENST00000378961.4	37	c.493_495delGAG	CCDS13092.1																																																																																				0.532	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077897.2	NM_001819		8	339						8	339	---	---	---	---
FRG1B	284802	broad.mit.edu	37	20	29624034	29624035	+	Intron	INS	-	-	G	rs201117819		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr20:29624034_29624035insG	ENST00000278882.3	+	4	446				FRG1B_ENST00000439954.2_Frame_Shift_Ins_p.I25fs|FRG1B_ENST00000358464.4_Intron			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B											endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TTTCTCCAATATTGATGAGGGC	0.287																																						ENST00000439954.2																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(73-75)tgafs																																						SO:0001627	intron_variant	0							g.chr20:29624034_29624035insG			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.67-8->G	20.37:g.29624034_29624035insG						FRG1B_ENST00000358464.4_Intron|FRG1B_ENST00000278882.3_Intron	p.*25fs							4	419_420	+								C4AME5	Frame_Shift_Ins	INS	ENST00000278882.3	37	c.73_74insG																																																																																					0.287	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		8	69						8	69	---	---	---	---
IFNGR2	3460	broad.mit.edu	37	21	34799292	34799292	+	Frame_Shift_Del	DEL	T	T	-	rs375419913		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr21:34799292delT	ENST00000290219.6	+	4	1162	c.514delT	c.(514-516)tttfs	p.F173fs	IFNGR2_ENST00000405436.1_Frame_Shift_Del_p.F94fs|IFNGR2_ENST00000381995.1_Frame_Shift_Del_p.F192fs	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN	interferon gamma receptor 2 (interferon gamma transducer 1)	173	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	interferon-gamma receptor activity (GO:0004906)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	CTCCACGGCCTTTTTTTGTTA	0.458																																						ENST00000290219.6																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13						c.(514-516)ttfs		interferon gamma receptor 2 (interferon gamma transducer 1)	Interferon gamma-1b(DB00033)						226.0	232.0	230.0					21																	34799292		2203	4300	6503	SO:0001589	frameshift_variant	3460				regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity	g.chr21:34799292delT		CCDS33544.1	21q22.1	2014-09-17			ENSG00000159128	ENSG00000159128		"""Interferons"", ""Fibronectin type III domain containing"""	5440	protein-coding gene	gene with protein product		147569		IFNGT1		3136170	Standard	NM_005534		Approved	AF-1	uc002yrp.4	P38484	OTTHUMG00000065188	ENST00000290219.6:c.514delT	21.37:g.34799292delT	ENSP00000290219:p.Phe173fs					IFNGR2_ENST00000381995.1_Frame_Shift_Del_p.F192fs|IFNGR2_ENST00000405436.1_Frame_Shift_Del_p.F94fs	p.F173fs	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN			4	1162	+			173			Fibronectin type-III 2.		Q9BTL5	Frame_Shift_Del	DEL	ENST00000290219.6	37	c.514delT	CCDS33544.1																																																																																				0.458	IFNGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139916.1			7	1510						7	1510	---	---	---	---
MCM3AP	8888	broad.mit.edu	37	21	47663397	47663397	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr21:47663397delG	ENST00000397708.1	-	25	5532	c.5278delC	c.(5278-5280)cggfs	p.R1760fs	MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP_ENST00000291688.1_Frame_Shift_Del_p.R1760fs|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000421927.1_RNA			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	1760	Acetyltransferase.				DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					ACAGGAAGCCGGGGGGGCGTC	0.527																																						ENST00000397708.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72						c.(5278-5280)ggfs		minichromosome maintenance complex component 3 associated protein																																				SO:0001589	frameshift_variant	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47663397delG	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.5278delC	21.37:g.47663397delG	ENSP00000380820:p.Arg1760fs					MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP_ENST00000291688.1_Frame_Shift_Del_p.R1760fs|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA	p.R1760fs			O60318	MCM3A_HUMAN			25	5532	-	Breast(49;0.112)		1760					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Frame_Shift_Del	DEL	ENST00000397708.1	37	c.5278delC	CCDS13734.1																																																																																				0.527	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		9	879						9	879	---	---	---	---
MED15	51586	broad.mit.edu	37	22	20918817	20918819	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr22:20918817_20918819delCAG	ENST00000263205.7	+	6	601_603	c.532_534delCAG	c.(532-534)cagdel	p.Q188del	MED15_ENST00000541476.1_In_Frame_Del_p.Q162del|MED15_ENST00000292733.7_In_Frame_Del_p.Q188del|MED15_ENST00000382974.2_In_Frame_Del_p.Q117del|MED15_ENST00000542773.1_5'UTR|MED15_ENST00000425759.2_In_Frame_Del_p.Q77del|MED15_ENST00000406969.1_In_Frame_Del_p.Q162del	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	188	Poly-Gln.				gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			ggcggcgctacagcagcagcagc	0.626											OREG0026319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000263205.7																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25						c.(532-534)del		mediator complex subunit 15																																				SO:0001651	inframe_deletion	51586				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	g.chr22:20918817_20918819delCAG	AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"""trinucleotide repeat containing 7"", ""PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"""	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.532_534delCAG	22.37:g.20918826_20918828delCAG	ENSP00000263205:p.Gln188del		OREG0026319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	744	MED15_ENST00000425759.2_In_Frame_Del_p.Q77del|MED15_ENST00000542773.1_5'UTR|MED15_ENST00000406969.1_In_Frame_Del_p.Q162del|MED15_ENST00000292733.7_In_Frame_Del_p.Q188del|MED15_ENST00000541476.1_In_Frame_Del_p.Q162del|MED15_ENST00000382974.2_In_Frame_Del_p.Q117del	p.Q188del	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)		6	601_603	+	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	188			Poly-Gln.		D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	In_Frame_Del	DEL	ENST00000263205.7	37	c.532_534delCAG	CCDS33602.1																																																																																				0.626	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	NM_015889		7	167						7	167	---	---	---	---
TCF20	6942	broad.mit.edu	37	22	42610573	42610575	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr22:42610573_42610575delAGG	ENST00000359486.3	-	1	873_875	c.737_739delCCT	c.(736-741)tccttc>ttc	p.S246del	TCF20_ENST00000335626.4_In_Frame_Del_p.S246del	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	246	Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GGTGAAGGGAaggaggaggagga	0.507																																						ENST00000359486.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						c.(736-741)ttc>t		transcription factor 20 (AR1)																																				SO:0001651	inframe_deletion	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42610573_42610575delAGG	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.737_739delCCT	22.37:g.42610582_42610584delAGG	ENSP00000352463:p.Ser246del					TCF20_ENST00000335626.4_In_Frame_Del_p.SF246del	p.SF246del	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN			1	873_875	-			246			Ser-rich.		A9JX12|O14528|Q13078|Q4V353|Q9H4M0	In_Frame_Del	DEL	ENST00000359486.3	37	c.737_739delCCT	CCDS14033.1																																																																																				0.507	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		11	434						11	434	---	---	---	---
TCF20	6942	broad.mit.edu	37	22	42610776	42610778	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr22:42610776_42610778delTGC	ENST00000359486.3	-	1	670_672	c.534_536delGCA	c.(532-537)cagcaa>caa	p.178_179QQ>Q	TCF20_ENST00000335626.4_In_Frame_Del_p.178_179QQ>Q	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	178	Poly-Gln.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CTGCTGGACTTGCTGCTGCTGCT	0.571																																						ENST00000359486.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						c.(532-537)caa>ca		transcription factor 20 (AR1)																																				SO:0001651	inframe_deletion	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42610776_42610778delTGC	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.534_536delGCA	22.37:g.42610785_42610787delTGC	ENSP00000352463:p.Gln179del					TCF20_ENST00000335626.4_In_Frame_Del_p.QQ178del	p.QQ178del	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN			1	670_672	-			178			Poly-Gln.		A9JX12|O14528|Q13078|Q4V353|Q9H4M0	In_Frame_Del	DEL	ENST00000359486.3	37	c.534_536delGCA	CCDS14033.1																																																																																				0.571	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		8	411						8	411	---	---	---	---
TSIX	9383	broad.mit.edu	37	X	73047124	73047125	+	lincRNA	DEL	AC	AC	-			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chrX:73047124_73047125delAC	ENST00000604411.1	+	0	35085_35086				XIST_ENST00000429829.1_lincRNA	NR_003255.2				TSIX transcript, XIST antisense RNA																		GCCACACATGACACACACACAC	0.47																																						ENST00000604411.1																			0																	21,2160		6,4,5,902,352						-3.8	0.0			146	63,3745		10,20,23,1404,917	no	intergenic				16,24,28,2306,1269	A1A1,A1R,A1,RR,R		1.6544,0.9629,1.4026				84,5905						0							g.chrX:73047124_73047125delAC			Xq13.2	2012-10-19	2012-08-15			ENSG00000270641		"""Long non-coding RNAs"", ""-"""	12377	non-coding RNA	RNA, long non-coding	"""XIST antisense RNA (non-protein coding)"", ""long intergenic non-protein coding RNA 13"""	300181	"""X (inactive)-specific transcript, antisense"", ""TSIX transcript, XIST antisense RNA (non-protein coding)"""			10192391	Standard	NR_003255		Approved	NCRNA00013, XIST-AS1, LINC00013	uc004ebn.2				X.37:g.73047134_73047135delAC						XIST_ENST00000429829.1_lincRNA		NR_003255.2						0	35085_35086	+									RNA	DEL	ENST00000604411.1	37																																																																																						0.470	TSIX-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000469120.1	NR_003255		13	688						13	688	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76855019	76855019	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chrX:76855019delT	ENST00000373344.5	-	25	6031	c.5817delA	c.(5815-5817)aaafs	p.K1939fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.K1901fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1939	Poly-Lys.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						AGCTACTATCTTTTTTCCCCT	0.353			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(5815-5817)aafs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						380.0	352.0	362.0					X																	76855019		2203	4295	6498	SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76855019delT	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.5817delA	X.37:g.76855019delT	ENSP00000362441:p.Lys1939fs					ATRX_ENST00000395603.3_Frame_Shift_Del_p.K1901fs|ATRX_ENST00000480283.1_5'UTR	p.K1939fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			25	6031	-			1939			Poly-Lys.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.5817delA	CCDS14434.1																																																																																				0.353	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		8	2372						8	2372	---	---	---	---
PAK3	5063	broad.mit.edu	37	X	110406206	110406208	+	In_Frame_Del	DEL	GAA	GAA	-	rs374572591		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chrX:110406206_110406208delGAA	ENST00000372010.1	+	10	1019_1021	c.577_579delGAA	c.(577-579)gaadel	p.E197del	PAK3_ENST00000518291.1_In_Frame_Del_p.E218del|PAK3_ENST00000425146.1_In_Frame_Del_p.E182del|PAK3_ENST00000360648.4_In_Frame_Del_p.E218del|PAK3_ENST00000446737.1_In_Frame_Del_p.E182del|PAK3_ENST00000417227.1_In_Frame_Del_p.E203del|PAK3_ENST00000262836.4_In_Frame_Del_p.E197del|PAK3_ENST00000372007.5_In_Frame_Del_p.E182del|PAK3_ENST00000519681.1_In_Frame_Del_p.E203del			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	197	Linker.|Poly-Glu.				activation of MAPK activity (GO:0000187)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|dendritic spine morphogenesis (GO:0060997)|MAPK cascade (GO:0000165)|regulation of actin filament polymerization (GO:0030833)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						agatgaagaggaagaagaagaag	0.394										TSP Lung(19;0.15)																												ENST00000519681.1																			0				breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						c.(595-597)del		p21 protein (Cdc42/Rac)-activated kinase 3																																				SO:0001651	inframe_deletion	5063				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding	g.chrX:110406206_110406208delGAA	AF068864	CCDS14554.1, CCDS48151.1, CCDS48152.1, CCDS48153.1	Xq22.3	2008-06-17	2008-06-17		ENSG00000077264	ENSG00000077264			8592	protein-coding gene	gene with protein product		300142	"""mental retardation, X-linked 47"", ""p21 (CDKN1A)-activated kinase 3"""	MRX30, MRX47		8826460, 9731525	Standard	NM_002578		Approved	hPAK3, bPAK	uc010npv.1	O75914	OTTHUMG00000022202	ENST00000372010.1:c.577_579delGAA	X.37:g.110406215_110406217delGAA	ENSP00000361080:p.Glu197del	TSP Lung(19;0.15)				PAK3_ENST00000417227.1_In_Frame_Del_p.E203del|PAK3_ENST00000372010.1_In_Frame_Del_p.E197del|PAK3_ENST00000446737.1_In_Frame_Del_p.E182del|PAK3_ENST00000425146.1_In_Frame_Del_p.E182del|PAK3_ENST00000372007.4_In_Frame_Del_p.E182del|PAK3_ENST00000518291.1_In_Frame_Del_p.E218del|PAK3_ENST00000360648.4_In_Frame_Del_p.E218del|PAK3_ENST00000262836.4_In_Frame_Del_p.E197del	p.E203del			O75914	PAK3_HUMAN			10	1037_1039	+			197			Linker.		A8K389|B1GX77|B1GX78|B1GX79|Q5JWX1|Q5JWX2|Q7Z2D6|Q7Z2E4|Q7Z3Z8|Q8WWK5|Q8WX23|Q9P0J8	In_Frame_Del	DEL	ENST00000372010.1	37	c.595_597delGAA	CCDS48153.1																																																																																				0.394	PAK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057918.1	NM_002578		17	689						17	689	---	---	---	---
HTATSF1	27336	broad.mit.edu	37	X	135585048	135585050	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chrX:135585048_135585050delAAG	ENST00000218364.4	+	5	856_858	c.682_684delAAG	c.(682-684)aagdel	p.K232del	HTATSF1_ENST00000535601.1_In_Frame_Del_p.K232del	NM_014500.4	NP_055315.2	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	232	Poly-Lys.				regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					TGATGCCTCAAAGAAGAAGAAGA	0.335																																						ENST00000535601.1																			0				NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30						c.(682-684)del		HIV-1 Tat specific factor 1																																				SO:0001651	inframe_deletion	27336				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding	g.chrX:135585048_135585050delAAG	U76992	CCDS14657.1	Xq26.3	2013-02-12	2006-01-09		ENSG00000102241	ENSG00000102241		"""RNA binding motif (RRM) containing"""	5276	protein-coding gene	gene with protein product		300346	"""HIV TAT specific factor 1"""			8849451	Standard	NM_014500		Approved	TAT-SF1	uc004ezx.3	O43719	OTTHUMG00000022510	ENST00000218364.4:c.682_684delAAG	X.37:g.135585057_135585059delAAG	ENSP00000218364:p.Lys232del					HTATSF1_ENST00000218364.4_In_Frame_Del_p.K232del	p.K232del	NM_001163280.1	NP_001156752.1	O43719	HTSF1_HUMAN			6	1104_1106	+	Acute lymphoblastic leukemia(192;0.000127)		232			Poly-Lys.		D3DWG9|Q59G06|Q99730	In_Frame_Del	DEL	ENST00000218364.4	37	c.682_684delAAG	CCDS14657.1																																																																																				0.335	HTATSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058497.1	NM_014500		8	600						8	600	---	---	---	---
CD99L2	83692	broad.mit.edu	37	X	149984524	149984526	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chrX:149984524_149984526delGTG	ENST00000370377.3	-	3	273_275	c.156_158delCAC	c.(154-159)accaca>aca	p.52_53TT>T	CD99L2_ENST00000466436.1_Intron|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000437787.2_In_Frame_Del_p.52_53TT>T|CD99L2_ENST00000355149.3_Intron	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	52	Poly-Thr.				cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CCTATTGGTTGTGGTGGTGGTGG	0.552																																						ENST00000370377.3																			0				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23						c.(154-159)aca>ac		CD99 molecule-like 2																																				SO:0001651	inframe_deletion	83692				cell adhesion	cell junction|integral to membrane		g.chrX:149984524_149984526delGTG	BC030536	CCDS14697.1, CCDS14698.1, CCDS35427.1, CCDS55527.1, CCDS76044.1	Xq28	2007-12-04	2006-03-28	2003-02-14	ENSG00000102181	ENSG00000102181			18237	protein-coding gene	gene with protein product		300846	"""MIC2 like 1"", ""CD99 antigen-like 2"""	MIC2L1			Standard	NM_001184808		Approved	CD99B	uc004fek.3	Q8TCZ2	OTTHUMG00000024247	ENST00000370377.3:c.156_158delCAC	X.37:g.149984533_149984535delGTG	ENSP00000359403:p.Thr54del					CD99L2_ENST00000466436.1_Intron|CD99L2_ENST00000355149.3_Intron|CD99L2_ENST00000437787.2_In_Frame_Del_p.TT52del|CD99L2_ENST00000346693.4_5'UTR	p.TT52del	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN			3	273_275	-	Acute lymphoblastic leukemia(192;6.56e-05)		52			Poly-Thr.		A8K2D5|A8K5R0|B3KWG2|B4DDL7|E7EMK5|E9PD27|Q8TAW2|Q8TCZ0|Q8TCZ1|Q9BQG9	In_Frame_Del	DEL	ENST00000370377.3	37	c.156_158delCAC	CCDS35427.1																																																																																				0.552	CD99L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061199.1	NM_031462		15	1262						15	1262	---	---	---	---
