#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
HEXA	3073	broad.mit.edu	37	15	72643552	72643552	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr15:72643552C>A	ENST00000268097.5	-	6	1097	c.594G>T	c.(592-594)ttG>ttT	p.L198F	HEXA_ENST00000566304.1_Missense_Mutation_p.L209F|HEXA_ENST00000429918.2_Missense_Mutation_p.L25F|HEXA_ENST00000457859.2_Missense_Mutation_p.L6F|RP11-106M3.3_ENST00000570175.1_RNA|HEXA_ENST00000567159.1_Missense_Mutation_p.L198F|RP11-106M3.2_ENST00000379915.4_RNA	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN	hexosaminidase A (alpha polypeptide)	198					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-N-acetylhexosaminidase activity (GO:0004563)|protein heterodimerization activity (GO:0046982)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						GGAACACGTTCAATTTATTGT	0.473																																						ENST00000268097.5																			0				breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						c.(592-594)ttG>ttT		hexosaminidase A (alpha polypeptide)							161.0	136.0	144.0					15																	72643552		2199	4297	6496	SO:0001583	missense	3073				cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity	g.chr15:72643552C>A	M13520	CCDS10243.1	15q24.1	2012-10-02			ENSG00000213614	ENSG00000213614	3.2.1.52		4878	protein-coding gene	gene with protein product	"""Tay Sachs disease"", ""GM2 gangliosidosis"""	606869				2952641, 3013851	Standard	NM_000520		Approved		uc002aun.4	P06865	OTTHUMG00000133445	ENST00000268097.5:c.594G>T	15.37:g.72643552C>A	ENSP00000268097:p.Leu198Phe					RP11-106M3.3_ENST00000570175.1_RNA|RP11-106M3.2_ENST00000379915.4_RNA|HEXA_ENST00000567159.1_Missense_Mutation_p.L198F|HEXA_ENST00000566304.1_Missense_Mutation_p.L209F|HEXA_ENST00000429918.2_Missense_Mutation_p.L25F|HEXA_ENST00000457859.2_Missense_Mutation_p.L6F	p.L198F	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN			6	1097	-			198					B4DKE7|E7ENH7|Q53HS8|Q6AI32	Missense_Mutation	SNP	ENST00000268097.5	37	c.594G>T	CCDS10243.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.755942	0.49362	.	.	ENSG00000213614	ENST00000268097;ENST00000457859;ENST00000429918	D;D;D	0.96913	-4.17;-4.17;-4.17	5.78	3.88	0.44766	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycoside hydrolase, family 20, catalytic core (1);Glycoside hydrolase, family 20 (1);	0.228413	0.45361	N	0.000368	D	0.86752	0.6008	N	0.04669	-0.19	0.38384	D	0.945222	B;B;B;B;B	0.15719	0.014;0.001;0.014;0.006;0.002	B;B;B;B;B	0.22152	0.038;0.019;0.038;0.023;0.018	T	0.77789	-0.2456	10	0.07482	T	0.82	-10.1601	5.9301	0.19134	0.0715:0.2888:0.5184:0.1213	.	25;209;25;78;198	E9PGL4;B4DVA7;B4DVL8;Q9BVJ8;P06865	.;.;.;.;HEXA_HUMAN	F	198;6;25	ENSP00000268097:L198F;ENSP00000398026:L6F;ENSP00000416187:L25F	ENSP00000268097:L198F	L	-	3	2	HEXA	70430606	0.986000	0.35501	1.000000	0.80357	0.993000	0.82548	0.207000	0.17395	0.750000	0.32877	0.655000	0.94253	TTG		0.473	HEXA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257317.2	NM_000520		9	348	1	0	1.12685e-05	1.12685e-05	0.00119236	9	348				
HDLBP	3069	broad.mit.edu	37	2	242194513	242194513	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:242194513C>A	ENST00000391975.1	-	9	1368	c.1141G>T	c.(1141-1143)Ggc>Tgc	p.G381C	HDLBP_ENST00000427183.2_Missense_Mutation_p.G348C|HDLBP_ENST00000310931.4_Missense_Mutation_p.G381C|HDLBP_ENST00000391976.2_Missense_Mutation_p.G381C	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	381	KH 4. {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)		CCTTTCTTGCCAATGATGAAA	0.478																																						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.(1141-1143)Ggc>Tgc		high density lipoprotein binding protein							196.0	209.0	205.0					2																	242194513		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.chr2:242194513C>A		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.1141G>T	2.37:g.242194513C>A	ENSP00000375836:p.Gly381Cys					HDLBP_ENST00000310931.4_Missense_Mutation_p.G381C|HDLBP_ENST00000427183.2_Missense_Mutation_p.G348C|HDLBP_ENST00000391976.2_Missense_Mutation_p.G381C	p.G381C	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)	9	1368	-		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)	381			KH 4.		B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Missense_Mutation	SNP	ENST00000391975.1	37	c.1141G>T	CCDS2547.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	34|34|34	5.374320|5.374320|5.374320	0.95923|0.95923|0.95923	.|.|.	.|.|.	ENSG00000115677|ENSG00000115677|ENSG00000115677	ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183|ENST00000453141|ENST00000373292	D;D;D;D|.|.	0.88741|.|.	-2.42;-2.42;-2.42;-2.42|.|.	5.93|5.93|5.93	5.93|5.93|5.93	0.95920|0.95920|0.95920	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	D|D|D	0.84543|0.84543|0.84543	0.5495|0.5495|0.5495	M|M|M	0.86651|0.86651|0.86651	2.83|2.83|2.83	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;D;D|.|.	0.89917|.|.	1.0;1.0;1.0|.|.	D;D;D|.|.	0.97110|.|.	1.0;1.0;1.0|.|.	D|D|D	0.85095|0.85095|0.85095	0.0954|0.0954|0.0954	10|5|5	0.87932|.|.	D|.|.	0|.|.	-37.045|-37.045|-37.045	20.3539|20.3539|20.3539	0.98825|0.98825|0.98825	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	381;348;381|.|.	B2R5V9;E7EM71;Q00341|.|.	.;.;VIGLN_HUMAN|.|.	C|F|L	381;381;381;348|258|189	ENSP00000375836:G381C;ENSP00000375837:G381C;ENSP00000312042:G381C;ENSP00000399139:G348C|.|.	ENSP00000312042:G381C|.|.	G|L|W	-|-|-	1|3|2	0|2|0	HDLBP|HDLBP|HDLBP	241843186|241843186|241843186	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.997000|0.997000|0.997000	0.53966|0.53966|0.53966	0.963000|0.963000|0.963000	0.63663|0.63663|0.63663	7.755000|7.755000|7.755000	0.85180|0.85180|0.85180	2.826000|2.826000|2.826000	0.97356|0.97356|0.97356	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GGC|TTG|TGG		0.478	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	NM_203346		12	1227	1	0	1.12685e-05	1.12685e-05	0.00119236	12	1227				
ATP2B2	491	broad.mit.edu	37	3	10452375	10452375	+	Silent	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:10452375G>T	ENST00000352432.4	-	2	393	c.324C>A	c.(322-324)ctC>ctA	p.L108L	ATP2B2_ENST00000360273.2_Silent_p.L108L|ATP2B2_ENST00000343816.4_Silent_p.L108L|ATP2B2_ENST00000383800.4_Silent_p.L108L|ATP2B2_ENST00000397077.1_Silent_p.L108L			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	108					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CCAGGATGATGAGCGTCACGT	0.552																																					Ovarian(125;1619 1709 15675 19819 38835)	ENST00000397077.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						c.(322-324)ctC>ctA		ATPase, Ca++ transporting, plasma membrane 2							186.0	198.0	194.0					3																	10452375		2203	4300	6503	SO:0001819	synonymous_variant	491				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	g.chr3:10452375G>T	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.324C>A	3.37:g.10452375G>T						ATP2B2_ENST00000343816.4_Silent_p.L108L|ATP2B2_ENST00000360273.2_Silent_p.L108L|ATP2B2_ENST00000383800.4_Silent_p.L108L|ATP2B2_ENST00000352432.4_Silent_p.L108L	p.L108L			Q01814	AT2B2_HUMAN			5	899	-			108					O00766|Q12994|Q16818	Silent	SNP	ENST00000352432.4	37	c.324C>A	CCDS33701.1																																																																																				0.552	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683		14	1155	1	0	3.86212e-05	3.86212e-05	0.00332401	14	1155				
VCPIP1	80124	broad.mit.edu	37	8	67578760	67578760	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr8:67578760C>A	ENST00000310421.4	-	1	692	c.434G>T	c.(433-435)cGg>cTg	p.R145L	C8orf44_ENST00000521889.1_5'Flank|C8orf44-SGK3_ENST00000519289.1_5'Flank|C8orf44_ENST00000519561.1_5'Flank	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	145					endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			AAGCTTGGCCCGGCCTGTCTG	0.517																																					NSCLC(179;265 2915 6144 43644)	ENST00000310421.4																			0				breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(433-435)cGg>cTg		valosin containing protein (p97)/p47 complex interacting protein 1							106.0	97.0	100.0					8																	67578760		2203	4300	6503	SO:0001583	missense	80124				protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity	g.chr8:67578760C>A	AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"""OTU domain containing"""	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.434G>T	8.37:g.67578760C>A	ENSP00000309031:p.Arg145Leu						p.R145L	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)		1	692	-		Lung NSC(129;0.142)|all_lung(136;0.227)	145					Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Missense_Mutation	SNP	ENST00000310421.4	37	c.434G>T	CCDS6192.1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.599893	0.46318	.	.	ENSG00000175073	ENST00000310421	T	0.33654	1.4	6.17	6.17	0.99709	.	0.250144	0.40554	N	0.001077	T	0.19406	0.0466	N	0.08118	0	0.35845	D	0.826367	B	0.23891	0.093	B	0.21151	0.033	T	0.13899	-1.0492	10	0.87932	D	0	-9.9394	8.1392	0.31073	0.0:0.8201:0.0:0.1799	.	145	Q96JH7	VCIP1_HUMAN	L	145	ENSP00000309031:R145L	ENSP00000309031:R145L	R	-	2	0	VCPIP1	67741314	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.008000	0.57103	2.941000	0.99782	0.655000	0.94253	CGG		0.517	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1			8	572	1	0	2.17888e-05	2.17888e-05	0.00213033	8	572				
PKM	5315	broad.mit.edu	37	15	72500985	72500985	+	Silent	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr15:72500985G>T	ENST00000335181.5	-	6	916	c.813C>A	c.(811-813)atC>atA	p.I271I	PKM_ENST00000565184.1_Silent_p.I271I|PKM_ENST00000389093.3_Silent_p.I271I|PKM_ENST00000568459.1_Silent_p.I271I|PKM_ENST00000319622.6_Silent_p.I271I|PKM_ENST00000568883.1_Silent_p.I106I|PKM_ENST00000565154.1_Silent_p.I271I|PKM_ENST00000449901.2_Silent_p.I256I	NM_002654.4	NP_002645.3	P14618	KPYM_HUMAN	pyruvate kinase, muscle	271					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|programmed cell death (GO:0012501)|small molecule metabolic process (GO:0044281)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)	p.I271I(1)		endometrium(1)|lung(7)	8					Pyruvic acid(DB00119)	CATGATTCTCGATTTTGCTGA	0.512																																						ENST00000319622.6																			1	Substitution - coding silent(1)	p.I271I(1)	large_intestine(1)	endometrium(1)|lung(7)	8						c.(811-813)atC>atA		pyruvate kinase, muscle							181.0	155.0	164.0					15																	72500985		2199	4297	6496	SO:0001819	synonymous_variant	5315							g.chr15:72500985G>T	M23725	CCDS32284.1, CCDS32285.1, CCDS55972.1, CCDS73752.1	15q23	2012-10-02		2012-05-23	ENSG00000067225	ENSG00000067225	2.7.1.40		9021	protein-coding gene	gene with protein product		179050		PKM2		2040271	Standard	NM_002654		Approved	THBP1, OIP3, PK3	uc002atr.1	P14618	OTTHUMG00000172709	ENST00000335181.5:c.813C>A	15.37:g.72500985G>T						PKM_ENST00000335181.5_Silent_p.I271I|PKM_ENST00000565184.1_Silent_p.I271I|PKM_ENST00000568883.1_Silent_p.I106I|PKM_ENST00000449901.2_Silent_p.I256I|PKM_ENST00000568459.1_Silent_p.I271I|PKM_ENST00000389093.3_Silent_p.I271I|PKM_ENST00000565154.1_Silent_p.I271I	p.I271I	NM_001206796.1|NM_182470.2|NM_182471.2	NP_001193725.1|NP_872270.1|NP_872271.1					6	1269	-								A6NFK3|B2R5N8|B3KRY0|B4DFX8|B4DUU6|P14786|Q53GK4|Q96E76|Q9BWB5|Q9UCV6|Q9UPF2	Silent	SNP	ENST00000335181.5	37	c.813C>A	CCDS32284.1																																																																																				0.512	PKM-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420056.1			11	487	1	0	0.000151284	0.000151284	0.00973904	11	487				
EMC1	23065	broad.mit.edu	37	1	19567555	19567555	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:19567555C>A	ENST00000477853.1	-	6	633	c.591G>T	c.(589-591)gtG>gtT	p.V197V	EMC1_ENST00000375208.3_Silent_p.V175V|RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000375199.3_Silent_p.V197V	NM_001271427.1|NM_001271428.1|NM_015047.2	NP_001258356.1|NP_001258357.1|NP_055862.1	Q8N766	EMC1_HUMAN	ER membrane protein complex subunit 1	197						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											TGACAATGTTCACATGGCTGA	0.502											OREG0013169	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000477853.1																			0											c.(589-591)gtG>gtT		ER membrane protein complex subunit 1							154.0	153.0	154.0					1																	19567555		2203	4300	6503	SO:0001819	synonymous_variant	23065							g.chr1:19567555C>A		CCDS190.1, CCDS59190.1, CCDS59191.1	1p36.13	2012-05-23	2012-05-23	2012-05-23	ENSG00000127463	ENSG00000127463			28957	protein-coding gene	gene with protein product			"""KIAA0090"""	KIAA0090		22119785	Standard	NM_015047		Approved		uc001bbo.4	Q8N766	OTTHUMG00000002497	ENST00000477853.1:c.591G>T	1.37:g.19567555C>A			OREG0013169	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	734	EMC1_ENST00000375199.3_Silent_p.V197V|EMC1_ENST00000375208.3_Silent_p.V175V	p.V197V	NM_001271428.1|NM_015047.1	NP_001258357.1|NP_055862.1					6	633	-								A8K6F3|Q14700|Q5TG62|Q63HL0|Q63HL3|Q8NBH8	Silent	SNP	ENST00000477853.1	37	c.591G>T	CCDS190.1																																																																																				0.502	EMC1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000007076.2	NM_015047		17	655	1	0	5.3912e-06	7.07596e-05	0.000617672	17	655				
ZNF844	284391	broad.mit.edu	37	19	12187475	12187475	+	Missense_Mutation	SNP	C	C	G			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:12187475C>G	ENST00000439326.3	+	4	1715	c.1540C>G	c.(1540-1542)Cat>Gat	p.H514D	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	514					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.H514D(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						AAAGCCTTCACATCTGCCTCA	0.408																																						ENST00000439326.3																			1	Substitution - Missense(1)	p.H514D(1)	endometrium(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						c.(1540-1542)Cat>Gat		zinc finger protein 844							87.0	81.0	83.0					19																	12187475		692	1591	2283	SO:0001583	missense	284391				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12187475C>G	AL832297	CCDS45985.1	19p13.2	2013-01-08			ENSG00000223547	ENSG00000223547		"""Zinc fingers, C2H2-type"", ""-"""	25932	protein-coding gene	gene with protein product							Standard	NM_001136501		Approved	FLJ14959	uc002mtb.2	Q08AG5	OTTHUMG00000156405	ENST00000439326.3:c.1540C>G	19.37:g.12187475C>G	ENSP00000392024:p.His514Asp					ZNF844_ENST00000441304.2_3'UTR	p.H514D	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN			4	1715	+			514					Q5JPI8	Missense_Mutation	SNP	ENST00000439326.3	37	c.1540C>G	CCDS45985.1	.	.	.	.	.	.	.	.	.	.	c	0.059	-1.227642	0.01518	.	.	ENSG00000223547	ENST00000439326;ENST00000541708	T	0.06371	3.31	2.45	-4.91	0.03085	.	.	.	.	.	T	0.02649	0.0080	N	0.04387	-0.21	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44019	-0.9355	9	0.25106	T	0.35	.	9.0916	0.36614	0.0:0.4133:0.4132:0.1735	.	514	Q08AG5	ZN844_HUMAN	D	514	ENSP00000392024:H514D	ENSP00000392024:H514D	H	+	1	0	ZNF844	12048475	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-4.066000	0.00302	-2.826000	0.00341	-1.839000	0.00587	CAT		0.408	ZNF844-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344086.2			6	384	0	0	0	1.12685e-05	0	6	384				
ACADM	34	broad.mit.edu	37	1	76198337	76198337	+	Nonsense_Mutation	SNP	G	G	T	rs147559466	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:76198337G>T	ENST00000370841.4	+	3	564	c.127G>T	c.(127-129)Gaa>Taa	p.E43*	ACADM_ENST00000541113.1_Nonsense_Mutation_p.E7*|ACADM_ENST00000420607.2_Nonsense_Mutation_p.E47*|ACADM_ENST00000370834.5_Nonsense_Mutation_p.E43*|ACADM_ENST00000543667.1_5'UTR	NM_000016.4|NM_001127328.1	NP_000007.1|NP_001120800.1	P11310	ACADM_HUMAN	acyl-CoA dehydrogenase, C-4 to C-12 straight chain	43					cardiac muscle cell differentiation (GO:0055007)|carnitine biosynthetic process (GO:0045329)|carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|glycogen biosynthetic process (GO:0005978)|liver development (GO:0001889)|medium-chain fatty acid catabolic process (GO:0051793)|medium-chain fatty acid metabolic process (GO:0051791)|oxidation-reduction process (GO:0055114)|post-embryonic development (GO:0009791)|regulation of gluconeogenesis (GO:0006111)|response to cold (GO:0009409)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|identical protein binding (GO:0042802)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)			breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18					Flavin adenine dinucleotide(DB03147)	AGAGTTCACCGAACAGCAGAA	0.358																																						ENST00000370841.4																			0				breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18	GRCh37	CM042915	ACADM	M	rs147559466	c.(127-129)Gaa>Taa		acyl-CoA dehydrogenase, C-4 to C-12 straight chain							90.0	103.0	99.0					1																	76198337		2202	4300	6502	SO:0001587	stop_gained	34				carnitine biosynthetic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|medium-chain fatty acid catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|identical protein binding|medium-chain-acyl-CoA dehydrogenase activity	g.chr1:76198337G>T	M16827	CCDS668.1, CCDS44165.1, CCDS65562.1, CCDS72807.1	1p31	2014-09-17	2010-04-30		ENSG00000117054	ENSG00000117054	1.3.99.3		89	protein-coding gene	gene with protein product		607008	"""acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain"""			3035565	Standard	NM_000016		Approved	MCAD, MCADH, ACAD1	uc009wbp.3	P11310	OTTHUMG00000009784	ENST00000370841.4:c.127G>T	1.37:g.76198337G>T	ENSP00000359878:p.Glu43*					ACADM_ENST00000370834.5_Nonsense_Mutation_p.E43*|ACADM_ENST00000541113.1_Nonsense_Mutation_p.E7*|ACADM_ENST00000420607.2_Nonsense_Mutation_p.E47*|ACADM_ENST00000543667.1_5'UTR	p.E43*	NM_000016.4|NM_001127328.1	NP_000007.1|NP_001120800.1	P11310	ACADM_HUMAN			3	564	+			43					Q5T4U4|Q9NYF1	Nonsense_Mutation	SNP	ENST00000370841.4	37	c.127G>T	CCDS668.1	.	.	.	.	.	.	.	.	.	.	G	41	8.742409	0.98937	.	.	ENSG00000117054	ENST00000370841;ENST00000370834;ENST00000541113;ENST00000420607	.	.	.	5.77	5.77	0.91146	.	0.048472	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	19.5899	0.95506	0.0:0.0:1.0:0.0	.	.	.	.	X	43;43;7;47	.	ENSP00000359871:E43X	E	+	1	0	ACADM	75970925	1.000000	0.71417	0.991000	0.47740	0.824000	0.46624	7.319000	0.79040	2.720000	0.93068	0.650000	0.86243	GAA		0.358	ACADM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026967.1			12	682	1	0	1.49906e-05	1.49906e-05	0.00153956	12	682				
ZNF91	7644	broad.mit.edu	37	19	23544867	23544867	+	Missense_Mutation	SNP	T	T	C			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:23544867T>C	ENST00000300619.7	-	4	1119	c.914A>G	c.(913-915)cAt>cGt	p.H305R	ZNF91_ENST00000397082.2_Missense_Mutation_p.H273R|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	305					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				GGTTGAAGAATGGCTAAAAGC	0.413																																						ENST00000300619.7																			0											c.(913-915)cAt>cGt		zinc finger protein 91							78.0	82.0	81.0					19																	23544867		2175	4288	6463	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23544867T>C	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.914A>G	19.37:g.23544867T>C	ENSP00000300619:p.His305Arg					ZNF91_ENST00000397082.2_Missense_Mutation_p.H273R|ZNF91_ENST00000599743.1_Intron	p.H305R	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN			4	1119	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	305					A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.914A>G	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	T	0.014	-1.588219	0.00872	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.17691	2.26;2.26	2.03	0.954	0.19595	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05640	0.0148	N	0.04043	-0.29	0.09310	N	1	B;B	0.26081	0.116;0.141	B;B	0.15484	0.007;0.013	T	0.41251	-0.9519	9	0.07030	T	0.85	.	6.7777	0.23628	0.0:0.1365:0.0:0.8635	.	273;305	Q05481-2;Q05481	.;ZNF91_HUMAN	R	305;273	ENSP00000300619:H305R;ENSP00000380272:H273R	ENSP00000300619:H305R	H	-	2	0	ZNF91	23336707	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.802000	0.00184	-0.005000	0.14395	-1.601000	0.00813	CAT		0.413	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		8	748	0	0	0	3.86212e-05	0	8	748				
ITGB6	3694	broad.mit.edu	37	2	160994703	160994703	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:160994703C>A	ENST00000283249.2	-	9	1352	c.1115G>T	c.(1114-1116)cGg>cTg	p.R372L	ITGB6_ENST00000409967.2_Missense_Mutation_p.R372L|ITGB6_ENST00000428609.2_Missense_Mutation_p.R330L|ITGB6_ENST00000409872.1_Missense_Mutation_p.R372L	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	372					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						CACCTCAGACCGCAGTTCCTT	0.403																																						ENST00000283249.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						c.(1114-1116)cGg>cTg		integrin, beta 6							179.0	155.0	163.0					2																	160994703		2203	4300	6503	SO:0001583	missense	3694				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity	g.chr2:160994703C>A		CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221		"""Integrins"""	6161	protein-coding gene	gene with protein product		147558				1729173, 8120056	Standard	NM_001282353		Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000283249.2:c.1115G>T	2.37:g.160994703C>A	ENSP00000283249:p.Arg372Leu					ITGB6_ENST00000428609.2_Missense_Mutation_p.R330L|ITGB6_ENST00000409967.2_Missense_Mutation_p.R372L|ITGB6_ENST00000409872.1_Missense_Mutation_p.R372L	p.R372L			P18564	ITB6_HUMAN			9	1352	-			372					B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Missense_Mutation	SNP	ENST00000283249.2	37	c.1115G>T	CCDS2212.1	.	.	.	.	.	.	.	.	.	.	C	31	5.069244	0.93950	.	.	ENSG00000115221	ENST00000283249;ENST00000428609;ENST00000409967;ENST00000409872	D;D;D;D	0.97505	-4.41;-4.41;-4.41;-4.41	5.76	5.76	0.90799	Integrin beta subunit, N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.98438	0.9480	M	0.78285	2.405	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98288	1.0512	10	0.49607	T	0.09	.	20.3431	0.98773	0.0:1.0:0.0:0.0	.	330;372	E9PEE8;P18564	.;ITB6_HUMAN	L	372;330;372;372	ENSP00000283249:R372L;ENSP00000408024:R330L;ENSP00000386828:R372L;ENSP00000386367:R372L	ENSP00000283249:R372L	R	-	2	0	ITGB6	160702949	1.000000	0.71417	0.999000	0.59377	0.953000	0.61014	7.559000	0.82265	2.880000	0.98712	0.650000	0.86243	CGG		0.403	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255036.1	NM_000888		7	636	1	0	0.000157383	0.000157383	0.00973904	7	636				
PRB3	5544	broad.mit.edu	37	12	11420551	11420551	+	Missense_Mutation	SNP	C	C	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr12:11420551C>T	ENST00000279573.7	-	3	767	c.632G>A	c.(631-633)gGa>gAa	p.G211E	PRB3_ENST00000538488.1_Missense_Mutation_p.G190E|PRB3_ENST00000381842.3_Intron|PRB3_ENST00000440870.3_Intron			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	211	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.		Missing (in allele S).		defense response to Gram-negative bacterium (GO:0050829)	extracellular region (GO:0005576)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			CTGGTTTCCTCCTTGTGGGGG	0.627																																						ENST00000381842.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25								proline-rich protein BstNI subfamily 3							74.0	94.0	88.0					12																	11420551		1662	3708	5370	SO:0001583	missense	5544					extracellular region	Gram-negative bacterial cell surface binding	g.chr12:11420551C>T			12p13.2	2012-10-02				ENSG00000197870			9339	protein-coding gene	gene with protein product		168840				1894623	Standard	NM_006249		Approved	PRG	uc001qzs.3	Q04118		ENST00000279573.7:c.632G>A	12.37:g.11420551C>T	ENSP00000279573:p.Gly211Glu					PRB3_ENST00000279573.6_RNA|PRB3_ENST00000538488.1_RNA|PRB3_ENST00000440870.3_RNA		NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.201)		0	642	-								Q15188|Q4VAY3|Q4VAY4|Q7M4M9|Q9UCT9	RNA	SNP	ENST00000279573.7	37			.	.	.	.	.	.	.	.	.	.	.	3.758	-0.050200	0.07407	.	.	ENSG00000197870	ENST00000538488	T	0.08984	3.03	1.13	0.161	0.14977	.	2.415300	0.04566	N	0.392332	T	0.05823	0.0152	.	.	.	0.09310	N	1	B	0.27166	0.17	B	0.20384	0.029	T	0.38779	-0.9645	9	0.39692	T	0.17	.	3.799	0.08751	0.0:0.5104:0.0:0.4895	.	211	Q04118	PRB3_HUMAN	E	190	ENSP00000442626:G190E	ENSP00000279573:G211E	G	-	2	0	PRB3	11311818	0.000000	0.05858	0.003000	0.11579	0.015000	0.08874	-0.527000	0.06200	0.043000	0.15746	0.194000	0.17425	GGA		0.627	PRB3-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000402119.5	NM_006249		11	1131	0	0	0	8.12818e-05	0	11	1131				
DCP2	167227	broad.mit.edu	37	5	112321534	112321534	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr5:112321534G>T	ENST00000389063.2	+	2	254	c.56G>T	c.(55-57)cGa>cTa	p.R19L	DCP2_ENST00000543319.1_Intron|DCP2_ENST00000515408.1_Missense_Mutation_p.R19L	NM_152624.5	NP_689837	Q8IU60	DCP2_HUMAN	decapping mRNA 2	19					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)|RISC complex (GO:0016442)	exoribonuclease activity, producing 5'-phosphomonoesters (GO:0016896)|m7G(5')pppN diphosphatase activity (GO:0050072)|manganese ion binding (GO:0030145)|RNA binding (GO:0003723)			endometrium(3)|large_intestine(6)|lung(1)	10		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)		TTTGACAGCCGATTTATTTTG	0.358																																						ENST00000389063.2																			0				endometrium(3)|large_intestine(6)|lung(1)	10						c.(55-57)cGa>cTa		decapping mRNA 2							163.0	152.0	156.0					5																	112321534		2202	4300	6502	SO:0001583	missense	167227				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus|RNA-induced silencing complex	exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding|RNA binding	g.chr5:112321534G>T	AY135173	CCDS34210.1, CCDS56377.1	5q22	2013-05-02	2013-05-02		ENSG00000172795	ENSG00000172795	3.6.1.62	"""Nudix motif containing"""	24452	protein-coding gene	gene with protein product	"""nudix (nucleoside diphosphate linked moiety X)-type motif 20"", ""M(7)GpppN-mRNA hydrolase"""	609844	"""DCP2 decapping enzyme homolog (S. cerevisiae)"""			12218187, 12417715	Standard	NM_152624		Approved	NUDT20	uc003kqh.3	Q8IU60	OTTHUMG00000162853	ENST00000389063.2:c.56G>T	5.37:g.112321534G>T	ENSP00000373715:p.Arg19Leu					DCP2_ENST00000515408.1_Missense_Mutation_p.R19L|DCP2_ENST00000543319.1_Intron	p.R19L	NM_152624.5	NP_689837.2	Q8IU60	DCP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)	2	254	+		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)	19					C9J778|Q6P2D4|Q7Z5W5|Q8NBG5	Missense_Mutation	SNP	ENST00000389063.2	37	c.56G>T	CCDS34210.1	.	.	.	.	.	.	.	.	.	.	G	34	5.317160	0.95682	.	.	ENSG00000172795	ENST00000515408;ENST00000389063	T;T	0.71341	-0.56;-0.56	5.48	5.48	0.80851	mRNA decapping protein 2, Box A (1);	0.058834	0.64402	N	0.000001	D	0.88901	0.6563	M	0.93375	3.41	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91169	0.4967	10	0.87932	D	0	.	19.7147	0.96110	0.0:0.0:1.0:0.0	.	19	Q8IU60	DCP2_HUMAN	L	19	ENSP00000425770:R19L;ENSP00000373715:R19L	ENSP00000373715:R19L	R	+	2	0	DCP2	112349433	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.373000	0.97168	2.732000	0.93576	0.591000	0.81541	CGA		0.358	DCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370765.3	NM_152624		13	499	1	0	3.45872e-05	3.45872e-05	0.0032145	13	499				
SKA1	220134	broad.mit.edu	37	18	47918506	47918506	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr18:47918506C>A	ENST00000285116.3	+	7	868	c.657C>A	c.(655-657)ttC>ttA	p.F219L	SKA1_ENST00000488454.1_Missense_Mutation_p.F68L|SKA1_ENST00000398452.2_Missense_Mutation_p.F219L|SKA1_ENST00000417656.2_Missense_Mutation_p.F173L	NM_001039535.2|NM_145060.3	NP_001034624.1|NP_659497.1	Q96BD8	SKA1_HUMAN	spindle and kinetochore associated complex subunit 1	219					cell division (GO:0051301)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of microtubule polymerization or depolymerization (GO:0031110)	condensed chromosome outer kinetochore (GO:0000940)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|spindle microtubule (GO:0005876)	microtubule binding (GO:0008017)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(1)|prostate(1)	13						TAAAGGAGTTCACAACTTTGA	0.378																																						ENST00000285116.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(1)|prostate(1)	13						c.(655-657)ttC>ttA		spindle and kinetochore associated complex subunit 1							91.0	94.0	93.0					18																	47918506		2203	4300	6503	SO:0001583	missense	220134				cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytosol|spindle microtubule	microtubule binding	g.chr18:47918506C>A	BC015706	CCDS11946.1	18q21.1	2013-01-17	2009-08-19	2009-08-19	ENSG00000154839	ENSG00000154839			28109	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 24"""	C18orf24		17093495	Standard	NM_145060		Approved	MGC10200	uc002leu.3	Q96BD8	OTTHUMG00000132685	ENST00000285116.3:c.657C>A	18.37:g.47918506C>A	ENSP00000285116:p.Phe219Leu					SKA1_ENST00000398452.2_Missense_Mutation_p.F219L|SKA1_ENST00000417656.2_Missense_Mutation_p.F173L|SKA1_ENST00000488454.1_Missense_Mutation_p.F68L	p.F219L	NM_001039535.2|NM_145060.3	NP_001034624.1|NP_659497.1	Q96BD8	SKA1_HUMAN			7	868	+			219					B2R9Y6|B4E0P4	Missense_Mutation	SNP	ENST00000285116.3	37	c.657C>A	CCDS11946.1	.	.	.	.	.	.	.	.	.	.	C	18.32	3.598148	0.66332	.	.	ENSG00000154839	ENST00000285116;ENST00000417656;ENST00000398452	T;T;T	0.37752	1.18;1.18;1.18	6.04	5.18	0.71444	.	0.046452	0.85682	D	0.000000	T	0.47820	0.1466	L	0.61036	1.89	0.45762	D	0.998652	P;P	0.48089	0.884;0.905	P;P	0.54401	0.507;0.751	T	0.49254	-0.8959	10	0.62326	D	0.03	.	9.4762	0.38873	0.0:0.8409:0.0:0.1591	.	173;219	Q96BD8-2;Q96BD8	.;SKA1_HUMAN	L	219;173;219	ENSP00000285116:F219L;ENSP00000397222:F173L;ENSP00000381470:F219L	ENSP00000285116:F219L	F	+	3	2	SKA1	46172504	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	1.222000	0.32515	1.568000	0.49683	0.563000	0.77884	TTC		0.378	SKA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255982.2	NM_145060		9	508	1	0	0.00010058	0.00010058	0.0072096	9	508				
SUMO3	6612	broad.mit.edu	37	21	46233942	46233942	+	Silent	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr21:46233942G>T	ENST00000397898.3	-	2	181	c.99C>A	c.(97-99)atC>atA	p.I33I	SUMO3_ENST00000411651.2_Silent_p.I33I|SUMO3_ENST00000332859.6_Silent_p.I33I|SUMO3_ENST00000479153.1_5'UTR|SUMO3_ENST00000397893.3_Silent_p.I33I					small ubiquitin-like modifier 3											prostate(1)	1				Colorectal(79;0.058)		TGTGCCTCTTGATCTTGAACT	0.622																																						ENST00000332859.6																			0				prostate(1)	1						c.(97-99)atC>atA		small ubiquitin-like modifier 3							179.0	158.0	165.0					21																	46233942		2203	4300	6503	SO:0001819	synonymous_variant	6612				protein sumoylation	cytoplasm|kinetochore	protein binding	g.chr21:46233942G>T		CCDS33587.1, CCDS68220.1	21q22.3	2013-06-05	2013-06-05	2004-05-19	ENSG00000184900	ENSG00000184900			11124	protein-coding gene	gene with protein product		602231	"""SMT3 (suppressor of mif two 3, yeast) homolog 1"", ""SMT3 suppressor of mif two 3 homolog 3 (yeast)"", ""SMT3 suppressor of mif two 3 homolog 3 (S. cerevisiae)"""	SMT3H1		9119407	Standard	NM_006936		Approved	SMT3A	uc002zfz.1	P55854	OTTHUMG00000090256	ENST00000397898.3:c.99C>A	21.37:g.46233942G>T						SUMO3_ENST00000397893.3_Silent_p.I33I|SUMO3_ENST00000479153.1_5'UTR|SUMO3_ENST00000397898.3_Silent_p.I33I|SUMO3_ENST00000411651.2_Silent_p.I33I	p.I33I	NM_006936.2	NP_008867.2	P55854	SUMO3_HUMAN		Colorectal(79;0.058)	2	259	-			33			Ubiquitin-like.			Silent	SNP	ENST00000397898.3	37	c.99C>A																																																																																					0.622	SUMO3-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000206561.1			13	642	1	0	5.3912e-06	7.07596e-05	0.000617672	13	642				
SLC25A13	10165	broad.mit.edu	37	7	95813702	95813702	+	Missense_Mutation	SNP	C	C	T	rs398122839		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr7:95813702C>T	ENST00000265631.5	-	11	1200	c.1064G>A	c.(1063-1065)cGa>cAa	p.R355Q	SLC25A13_ENST00000416240.2_Missense_Mutation_p.R356Q|SLC25A13_ENST00000542654.1_Missense_Mutation_p.R247Q			Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	355					aspartate transport (GO:0015810)|ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular respiration (GO:0045333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|transporter activity (GO:0005215)			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	GTTCTGCATTCGAGTTTTTAC	0.373													C|||	1	0.000199681	0.0	0.0	5008	,	,		13282	0.0		0.0	False		,,,				2504	0.001					ENST00000416240.2																			0				breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42						c.(1066-1068)cGa>cAa		solute carrier family 25 (aspartate/glutamate carrier), member 13	L-Aspartic Acid(DB00128)						81.0	75.0	77.0					7																	95813702		2203	4300	6503	SO:0001583	missense	10165				ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity	g.chr7:95813702C>T	AF118838	CCDS5645.1, CCDS55130.1	7q21.3	2013-05-22	2012-03-29		ENSG00000004864	ENSG00000004864		"""Solute carriers"", ""EF-hand domain containing"""	10983	protein-coding gene	gene with protein product	"""mitochondrial aspartate glutamate carrier 2"""	603859	"""solute carrier family 25, member 13 (citrin)"""	CTLN2		10369257	Standard	NM_014251		Approved	CITRIN, ARALAR2	uc003uog.4	Q9UJS0	OTTHUMG00000023074	ENST00000265631.5:c.1064G>A	7.37:g.95813702C>T	ENSP00000265631:p.Arg355Gln					SLC25A13_ENST00000265631.5_Missense_Mutation_p.R355Q|SLC25A13_ENST00000542654.1_Missense_Mutation_p.R247Q	p.R356Q	NM_001160210.1|NM_014251.2	NP_001153682.1|NP_055066.1	Q9UJS0	CMC2_HUMAN	STAD - Stomach adenocarcinoma(171;0.194)		11	1257	-	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		355					O14566|O14575|Q546F9|Q9NZW1|Q9UNI7	Missense_Mutation	SNP	ENST00000265631.5	37	c.1067G>A	CCDS5645.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.952987	0.92660	.	.	ENSG00000004864	ENST00000265631;ENST00000416240;ENST00000542654	D;D;D	0.83591	-1.74;-1.74;-1.74	4.56	3.68	0.42216	Mitochondrial carrier domain (2);	0.000000	0.64402	D	0.000001	D	0.90728	0.7090	M	0.83774	2.66	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.995;0.997;0.997	D	0.91822	0.5468	10	0.87932	D	0	-7.7694	12.8922	0.58078	0.0:0.9209:0.0:0.0791	.	247;356;355	F5GX33;Q546F9;Q9UJS0	.;.;CMC2_HUMAN	Q	355;356;247	ENSP00000265631:R355Q;ENSP00000400101:R356Q;ENSP00000440484:R247Q	ENSP00000265631:R355Q	R	-	2	0	SLC25A13	95651638	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.651000	0.83577	1.279000	0.44446	0.655000	0.94253	CGA		0.373	SLC25A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059395.2	NM_014251		66	261	0	0	0	0.000147903	0	66	261				
SPATA18	132671	broad.mit.edu	37	4	52960706	52960706	+	Missense_Mutation	SNP	G	G	A	rs562919654		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr4:52960706G>A	ENST00000295213.4	+	12	1951	c.1577G>A	c.(1576-1578)cGg>cAg	p.R526Q	SPATA18_ENST00000419395.2_Missense_Mutation_p.R494Q	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	526					cellular response to DNA damage stimulus (GO:0006974)|mitochondrial protein catabolic process (GO:0035694)|mitochondrion degradation by induced vacuole formation (GO:0035695)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial outer membrane (GO:0005741)				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			TCTCGAAGTCGGAGTCCTTCT	0.348																																						ENST00000295213.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						c.(1576-1578)cGg>cAg		spermatogenesis associated 18							116.0	121.0	119.0					4																	52960706		2203	4300	6503	SO:0001583	missense	132671				mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding	g.chr4:52960706G>A	BC025396	CCDS3489.1, CCDS75124.1	4q11	2012-01-23	2012-01-23		ENSG00000163071	ENSG00000163071			29579	protein-coding gene	gene with protein product		612814	"""spermatogenesis associated 18 homolog (rat)"""			21300779	Standard	XR_245253		Approved	FLJ32906	uc003gzl.3	Q8TC71	OTTHUMG00000128698	ENST00000295213.4:c.1577G>A	4.37:g.52960706G>A	ENSP00000295213:p.Arg526Gln					SPATA18_ENST00000419395.2_Missense_Mutation_p.R494Q	p.R526Q	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)		12	1951	+			526					B4E2R0|E5RLK1|Q8IY48|Q8N7D7	Missense_Mutation	SNP	ENST00000295213.4	37	c.1577G>A	CCDS3489.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.719010	0.89205	.	.	ENSG00000163071	ENST00000295213;ENST00000419395	T;T	0.36340	1.26;1.29	4.84	4.84	0.62591	.	0.197922	0.43579	D	0.000555	T	0.55955	0.1953	M	0.61703	1.905	0.38418	D	0.946104	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.60459	-0.7259	10	0.66056	D	0.02	-9.9646	13.6443	0.62272	0.0:0.0:1.0:0.0	.	494;526	Q8TC71-2;Q8TC71	.;MIEAP_HUMAN	Q	526;494	ENSP00000295213:R526Q;ENSP00000415309:R494Q	ENSP00000295213:R526Q	R	+	2	0	SPATA18	52655463	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	4.694000	0.61760	2.677000	0.91161	0.655000	0.94253	CGG		0.348	SPATA18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250597.2	NM_145263		118	478	0	0	0	0.000147903	0	118	478				
ZNF429	353088	broad.mit.edu	37	19	21720483	21720483	+	Missense_Mutation	SNP	G	G	C			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:21720483G>C	ENST00000358491.4	+	4	1836	c.1628G>C	c.(1627-1629)gGc>gCc	p.G543A	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	543					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)			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						GAAGAATGTGGCAAAGCTTTT	0.363																																						ENST00000358491.4																			0				endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						c.(1627-1629)gGc>gCc		zinc finger protein 429							42.0	47.0	45.0					19																	21720483		2134	4270	6404	SO:0001583	missense	353088				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21720483G>C	AY269786	CCDS42537.1	19p12	2014-02-14			ENSG00000197013	ENSG00000197013		"""Zinc fingers, C2H2-type"", ""-"""	20817	protein-coding gene	gene with protein product							Standard	NM_001001415		Approved		uc002nqd.1	Q86V71	OTTHUMG00000182848	ENST00000358491.4:c.1628G>C	19.37:g.21720483G>C	ENSP00000351280:p.Gly543Ala					ZNF429_ENST00000597078.1_Intron	p.G543A	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN			4	1836	+			543					A6NLV7|Q9BZE6	Missense_Mutation	SNP	ENST00000358491.4	37	c.1628G>C	CCDS42537.1	.	.	.	.	.	.	.	.	.	.	.	6.378	0.437817	0.12104	.	.	ENSG00000197013	ENST00000358491	T	0.07021	3.23	0.876	0.876	0.19138	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27559	0.0677	M	0.87682	2.9	0.23653	N	0.997196	D	0.89917	1.0	D	0.71414	0.973	T	0.04140	-1.0974	9	0.87932	D	0	.	6.65	0.22957	0.0:0.0:1.0:0.0	.	543	Q86V71	ZN429_HUMAN	A	543	ENSP00000351280:G543A	ENSP00000351280:G543A	G	+	2	0	ZNF429	21512323	1.000000	0.71417	0.272000	0.24630	0.271000	0.26615	3.895000	0.56258	0.293000	0.22520	0.298000	0.19748	GGC		0.363	ZNF429-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463981.1	NM_001001415		7	493	0	0	0	0.00010058	0	7	493				
TIGD7	91151	broad.mit.edu	37	16	3350485	3350485	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr16:3350485C>A	ENST00000396862.1	-	2	1958	c.130G>T	c.(130-132)Gac>Tac	p.D44Y	TIGD7_ENST00000574598.1_5'Flank|TIGD7_ENST00000268674.2_Missense_Mutation_p.D44Y	NM_033208.3	NP_149985.2	Q6NT04	TIGD7_HUMAN	tigger transposable element derived 7	44	HTH psq-type. {ECO:0000255|PROSITE- ProRule:PRU00320}.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						TTTTTAATGTCATAAAATGTT	0.363																																						ENST00000396862.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						c.(130-132)Gac>Tac		tigger transposable element derived 7							103.0	103.0	103.0					16																	3350485		2197	4300	6497	SO:0001583	missense	91151				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr16:3350485C>A	AF251050	CCDS10500.1	16p13.11	2008-02-05			ENSG00000140993	ENSG00000140993			18331	protein-coding gene	gene with protein product		612969					Standard	NM_033208		Approved	Sancho	uc002cus.3	Q6NT04	OTTHUMG00000129325	ENST00000396862.1:c.130G>T	16.37:g.3350485C>A	ENSP00000380071:p.Asp44Tyr					TIGD7_ENST00000268674.2_Missense_Mutation_p.D44Y	p.D44Y	NM_033208.3	NP_149985.2	Q6NT04	TIGD7_HUMAN			2	1958	-			44			HTH psq-type.		Q9BXZ0	Missense_Mutation	SNP	ENST00000396862.1	37	c.130G>T	CCDS10500.1	.	.	.	.	.	.	.	.	.	.	C	13.04	2.117075	0.37339	.	.	ENSG00000140993	ENST00000426381;ENST00000396862;ENST00000268674	T;T	0.46819	0.86;0.86	4.29	3.34	0.38264	Homeodomain-related (1);Homeodomain-like (1);Helix-turn-helix, Psq-like (1);Centromere protein Cenp-B, DNA-binding domain 1 (1);	0.000000	0.36555	U	0.002540	T	0.45597	0.1350	N	0.19112	0.55	0.33142	D	0.544487	D	0.59767	0.986	P	0.61397	0.888	T	0.56908	-0.7901	10	0.54805	T	0.06	.	7.7276	0.28769	0.0:0.8858:0.0:0.1142	.	44	Q6NT04	TIGD7_HUMAN	Y	44	ENSP00000380071:D44Y;ENSP00000268674:D44Y	ENSP00000268674:D44Y	D	-	1	0	TIGD7	3290486	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.816000	0.38992	1.028000	0.39785	0.655000	0.94253	GAC		0.363	TIGD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251465.1	NM_033208		10	660	1	0	6.40141e-05	6.40141e-05	0.00496729	10	660				
MEP1A	4224	broad.mit.edu	37	6	46797278	46797278	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr6:46797278C>A	ENST00000230588.4	+	10	1123	c.1114C>A	c.(1114-1116)Cgc>Agc	p.R372S		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	372	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			AGGCAATGTTCGCAAGTTGGT	0.488																																						ENST00000230588.4																			0				NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						c.(1114-1116)Cgc>Agc		meprin A, alpha (PABA peptide hydrolase)							137.0	145.0	143.0					6																	46797278		2203	4300	6503	SO:0001583	missense	4224				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	g.chr6:46797278C>A		CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.1114C>A	6.37:g.46797278C>A	ENSP00000230588:p.Arg372Ser						p.R372S	NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	Lung(136;0.192)		10	1123	+			372			MAM.		A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Missense_Mutation	SNP	ENST00000230588.4	37	c.1114C>A	CCDS4918.1	.	.	.	.	.	.	.	.	.	.	C	13.75	2.330826	0.41297	.	.	ENSG00000112818	ENST00000230588	T	0.02067	4.47	5.77	4.89	0.63831	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.342421	0.34435	N	0.003979	T	0.03783	0.0107	M	0.74881	2.28	0.43522	D	0.995798	D;D	0.58970	0.984;0.984	P;P	0.61070	0.858;0.883	T	0.53753	-0.8394	10	0.19147	T	0.46	-12.7042	10.0322	0.42107	0.1364:0.7941:0.0:0.0695	.	400;372	B7ZL91;Q16819	.;MEP1A_HUMAN	S	372	ENSP00000230588:R372S	ENSP00000230588:R372S	R	+	1	0	MEP1A	46905237	0.011000	0.17503	0.879000	0.34478	0.799000	0.45148	0.779000	0.26746	1.410000	0.46936	0.650000	0.86243	CGC		0.488	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040803.1	NM_005588		13	638	1	0	2.31682e-05	2.31682e-05	0.00220351	13	638				
PRSS3P2	154754	broad.mit.edu	37	7	142482242	142482242	+	RNA	SNP	G	G	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr7:142482242G>A	ENST00000603901.1	+	0	622					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)										GGTCTGCAATGGACAGCTTCA	0.493																																						ENST00000603901.1																			0																																																			0							g.chr7:142482242G>A			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142482242G>A								NR_001296.3						0	622	+									RNA	SNP	ENST00000603901.1	37																																																																																						0.493	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		7	153	0	0	0	3.86212e-05	0	7	153				
MIEF2	125170	broad.mit.edu	37	17	18167206	18167206	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr17:18167206C>A	ENST00000323019.4	+	4	704	c.493C>A	c.(493-495)Cgg>Agg	p.R165R	MIEF2_ENST00000395706.2_Silent_p.R176R|MIEF2_ENST00000395704.4_Nonsense_Mutation_p.S140*|MIEF2_ENST00000577216.1_3'UTR	NM_001144900.1|NM_139162.3	NP_001138372.1|NP_631901.2	Q96C03	MID49_HUMAN	mitochondrial elongation factor 2	165					mitochondrion organization (GO:0007005)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein targeting to membrane (GO:0090314)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)											GGCCTACTTTCGGAGCAAGTT	0.672																																						ENST00000395704.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|lung(4)	9						c.(418-420)tCg>tAg									30.0	30.0	30.0					17																	18167206		2202	4298	6500	SO:0001819	synonymous_variant	0					integral to membrane	protein binding	g.chr17:18167206C>A	BC014973	CCDS11193.1, CCDS45624.1, CCDS45625.1	17p11.2	2013-09-23	2013-09-23	2013-09-23	ENSG00000177427	ENSG00000177427			17920	protein-coding gene	gene with protein product		615498	"""Smith-Magenis syndrome chromosome region, candidate 7"""	SMCR7		11997338, 21508961	Standard	NM_001144900		Approved	MGC23130, MiD49	uc010vxq.2	Q96C03	OTTHUMG00000059392	ENST00000323019.4:c.493C>A	17.37:g.18167206C>A						SMCR7_ENST00000577216.1_3'UTR|SMCR7_ENST00000395706.2_Silent_p.R176R|SMCR7_ENST00000323019.4_Silent_p.R165R	p.S140*			Q96C03	SMCR7_HUMAN			4	567	+	all_neural(463;0.228)		21					J3KPT3|Q6ZRD4|Q96N07	Nonsense_Mutation	SNP	ENST00000323019.4	37	c.419C>A	CCDS11193.1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.070652	0.55539	.	.	ENSG00000177427	ENST00000395704	.	.	.	5.32	3.21	0.36854	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-28.9718	13.8672	0.63596	0.4861:0.5139:0.0:0.0	.	.	.	.	X	140	.	.	S	+	2	0	SMCR7	18107931	0.169000	0.23002	0.090000	0.20809	0.716000	0.41182	0.796000	0.26986	0.465000	0.27167	0.563000	0.77884	TCG		0.672	MIEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132060.2	NM_139162		6	206	1	0	8.12818e-05	8.12818e-05	0.00618932	6	206				
COL14A1	7373	broad.mit.edu	37	8	121160132	121160132	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr8:121160132G>T	ENST00000297848.3	+	2	321	c.51G>T	c.(49-51)ttG>ttT	p.L17F	COL14A1_ENST00000247781.3_Missense_Mutation_p.L17F|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Missense_Mutation_p.L17F|COL14A1_ENST00000537875.1_Missense_Mutation_p.L17F	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CACCTTTTTTGGCAATTGTTT	0.408																																						ENST00000297848.3																			0				NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119						c.(49-51)ttG>ttT		collagen, type XIV, alpha 1							116.0	109.0	111.0					8																	121160132		2203	4300	6503	SO:0001583	missense	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121160132G>T		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.51G>T	8.37:g.121160132G>T	ENSP00000297848:p.Leu17Phe					COL14A1_ENST00000537875.1_Missense_Mutation_p.L17F|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Missense_Mutation_p.L17F|COL14A1_ENST00000309791.4_Missense_Mutation_p.L17F	p.L17F	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		2	321	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		17						Missense_Mutation	SNP	ENST00000297848.3	37	c.51G>T	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	G	9.500	1.102890	0.20632	.	.	ENSG00000187955	ENST00000537875;ENST00000309791;ENST00000297848;ENST00000247781	T;D;D;D	0.88896	0.4;-2.23;-2.26;-2.44	5.92	5.04	0.67666	.	0.680937	0.13024	N	0.419846	D	0.82683	0.5090	N	0.24115	0.695	0.20563	N	0.999883	B	0.02656	0.0	B	0.04013	0.001	T	0.73927	-0.3828	10	0.66056	D	0.02	.	12.49	0.55895	0.0:0.0:0.8328:0.1672	.	17	Q05707	COEA1_HUMAN	F	17	ENSP00000443974:L17F;ENSP00000311809:L17F;ENSP00000297848:L17F;ENSP00000247781:L17F	ENSP00000247781:L17F	L	+	3	2	COL14A1	121229313	0.226000	0.23696	0.731000	0.30826	0.189000	0.23516	1.973000	0.40550	1.505000	0.48720	0.655000	0.94253	TTG		0.408	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		8	423	1	0	3.07112e-06	6.40141e-05	0.00037162	8	423				
ZNF599	148103	broad.mit.edu	37	19	35251059	35251059	+	Missense_Mutation	SNP	C	C	A	rs202116567		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:35251059C>A	ENST00000329285.8	-	4	1020	c.647G>T	c.(646-648)cGg>cTg	p.R216L		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	216					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(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			CTGTTGATGCCGAACAAGGGC	0.478																																						ENST00000329285.7																			0				endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24						c.(646-648)cGg>cTg		zinc finger protein 599							190.0	183.0	186.0					19																	35251059		2203	4300	6503	SO:0001583	missense	148103				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35251059C>A	AK055225	CCDS32991.1	19q13.13	2013-01-08				ENSG00000153896		"""Zinc fingers, C2H2-type"", ""-"""	26408	protein-coding gene	gene with protein product							Standard	NM_001007248		Approved	FLJ30663	uc010edn.1	Q96NL3		ENST00000329285.8:c.647G>T	19.37:g.35251059C>A	ENSP00000333802:p.Arg216Leu						p.R216L	NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.138)		4	1020	-	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		216					Q569K0|Q5PRG1	Missense_Mutation	SNP	ENST00000329285.8	37	c.647G>T	CCDS32991.1	.	.	.	.	.	.	.	.	.	.	C	10.31	1.313663	0.23908	.	.	ENSG00000153896	ENST00000392231;ENST00000329285;ENST00000392229	T	0.26373	1.74	2.26	0.0456	0.14231	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16171	0.0389	L	0.37897	1.145	0.34881	D	0.744589	B	0.12630	0.006	B	0.11329	0.006	T	0.14615	-1.0466	9	0.30854	T	0.27	.	4.902	0.13779	0.0:0.5163:0.0:0.4837	.	216	Q96NL3	ZN599_HUMAN	L	215;216;18	ENSP00000333802:R216L	ENSP00000333802:R216L	R	-	2	0	ZNF599	39942899	0.000000	0.05858	0.813000	0.32504	0.890000	0.51754	-1.158000	0.03153	0.080000	0.16959	0.313000	0.20887	CGG		0.478	ZNF599-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460648.2	XM_086046		9	942	1	0	2.17888e-05	2.17888e-05	0.00213033	9	942				
DNM1P47	100216544	broad.mit.edu	37	15	102292955	102292955	+	RNA	SNP	C	C	T	rs200232711	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr15:102292955C>T	ENST00000561463.1	+	0	1001									DNM1 pseudogene 47																		CACAGCGGTGCGACGAGATGC	0.577													.|||	662	0.132188	0.174	0.147	5008	,	,		22354	0.0079		0.2227	False		,,,				2504	0.1002					ENST00000561463.1																			0																																																			0							g.chr15:102292955C>T	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102292955C>T														0	1001	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.577	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		7	36	0	0	0	1.49906e-05	0	7	36				
ZNF83	55769	broad.mit.edu	37	19	53116885	53116885	+	Silent	SNP	A	A	G	rs7247257	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:53116885A>G	ENST00000597597.1	-	2	3186	c.933T>C	c.(931-933)caT>caC	p.H311H	ZNF83_ENST00000594682.2_3'UTR|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000541777.2_Silent_p.H311H|ZNF83_ENST00000391789.4_Silent_p.H283H|ZNF83_ENST00000536937.1_Silent_p.H311H|ZNF83_ENST00000301096.3_Silent_p.H311H|ZNF83_ENST00000545872.1_Silent_p.H311H|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000544146.1_Silent_p.H311H			P51522	ZNF83_HUMAN	zinc finger protein 83	311					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)			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)		TCTCTCCAGTATGAATTCTCC	0.418													A|||	38	0.00758786	0.0234	0.0043	5008	,	,		21479	0.002		0.001	False		,,,				2504	0.001					ENST00000597597.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18						c.(931-933)caT>caC		zinc finger protein 83							108.0	113.0	111.0					19																	53116885		2201	4300	6501	SO:0001819	synonymous_variant	55769					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:53116885A>G	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.933T>C	19.37:g.53116885A>G						ZNF83_ENST00000536937.1_Silent_p.H311H|ZNF83_ENST00000301096.3_Silent_p.H311H|ZNF83_ENST00000544146.1_Silent_p.H311H|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000541777.2_Silent_p.H311H|ZNF83_ENST00000545872.1_Silent_p.H311H|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000391789.4_Silent_p.H283H	p.H311H			P51522	ZNF83_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)	2	3186	-			311					A8MT75|Q3ZCX0|Q6PI08	Silent	SNP	ENST00000597597.1	37	c.933T>C	CCDS12854.1																																																																																				0.418	ZNF83-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463700.1	NM_018300		10	987	0	0	0	0.000157383	0	10	987				
TCF23	150921	broad.mit.edu	37	2	27373013	27373013	+	Missense_Mutation	SNP	C	C	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:27373013C>T	ENST00000296096.5	+	2	375	c.245C>T	c.(244-246)gCc>gTc	p.A82V		NM_175769.2	NP_786951.1	Q7RTU1	TCF23_HUMAN	transcription factor 23	82	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				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)					CCTGAGAATGCCGCGCGGGAG	0.652																																						ENST00000296096.5																			0				large_intestine(2)|lung(11)|prostate(1)	14						c.(244-246)gCc>gTc		transcription factor 23							40.0	46.0	44.0					2																	27373013		2203	4300	6503	SO:0001583	missense	150921				cell differentiation|muscle organ development|regulation of transcription, DNA-dependent	nucleus		g.chr2:27373013C>T	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.245C>T	2.37:g.27373013C>T	ENSP00000296096:p.Ala82Val						p.A82V	NM_175769.2	NP_786951.1	Q7RTU1	TCF23_HUMAN			2	375	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		82					B2RNZ3	Missense_Mutation	SNP	ENST00000296096.5	37	c.245C>T	CCDS33163.1	.	.	.	.	.	.	.	.	.	.	C	33	5.221376	0.95139	.	.	ENSG00000163792	ENST00000296096	D	0.97906	-4.6	5.66	5.66	0.87406	Helix-loop-helix DNA-binding (5);	0.054766	0.64402	D	0.000001	D	0.98150	0.9389	M	0.65975	2.015	0.53688	D	0.999972	D	0.60160	0.987	P	0.60789	0.879	D	0.98239	1.0487	10	0.48119	T	0.1	-6.4656	17.2403	0.87011	0.0:1.0:0.0:0.0	.	82	Q7RTU1	TCF23_HUMAN	V	82	ENSP00000296096:A82V	ENSP00000296096:A82V	A	+	2	0	TCF23	27226517	1.000000	0.71417	0.879000	0.34478	0.676000	0.39594	5.750000	0.68712	2.680000	0.91292	0.561000	0.74099	GCC		0.652	TCF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324980.1	NM_175769		5	262	0	0	0	3.59834e-05	0	5	262				
NPM1	4869	broad.mit.edu	37	5	170827880	170827880	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr5:170827880C>A	ENST00000296930.5	+	8	921	c.620C>A	c.(619-621)tCa>tAa	p.S207*	NPM1_ENST00000517671.1_Nonsense_Mutation_p.S207*|NPM1_ENST00000393820.2_Nonsense_Mutation_p.S207*|NPM1_ENST00000351986.6_Intron	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	nucleophosmin (nucleolar phosphoprotein B23, numatrin)	207					cell aging (GO:0007569)|CENP-A containing nucleosome assembly (GO:0034080)|centrosome cycle (GO:0007098)|DNA repair (GO:0006281)|intracellular protein transport (GO:0006886)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of centrosome duplication (GO:0010826)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|nucleocytoplasmic transport (GO:0006913)|nucleosome assembly (GO:0006334)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of translation (GO:0045727)|protein localization (GO:0008104)|protein oligomerization (GO:0051259)|regulation of centriole replication (GO:0046599)|regulation of eIF2 alpha phosphorylation by dsRNA (GO:0060735)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of endoribonuclease activity (GO:0060699)|response to stress (GO:0006950)|ribosome assembly (GO:0042255)|signal transduction (GO:0007165)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle pole centrosome (GO:0031616)	histone binding (GO:0042393)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|unfolded protein binding (GO:0051082)		NPM1/ALK(632)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCACAAAAGTCAAATCAGAAT	0.388			"""T, F """	"""ALK, RARA, MLF1"""	"""NHL, APL, AML"""																																	ENST00000296930.5				Dom	yes		5	5q35	4869	"""T, F """	"""nucleophosmin (nucleolar phosphoprotein B23, numatrin)"""			L	"""ALK, RARA, MLF1"""		"""NHL, APL, AML"""	NPM1/ALK(632)	0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269						c.(619-621)tCa>tAa		nucleophosmin (nucleolar phosphoprotein B23, numatrin)							75.0	74.0	74.0					5																	170827880		2203	4300	6503	SO:0001587	stop_gained	4869				anti-apoptosis|cell aging|CenH3-containing nucleosome assembly at centromere|centrosome cycle|DNA repair|interspecies interaction between organisms|intracellular protein transport|negative regulation of cell proliferation|negative regulation of centrosome duplication|nucleocytoplasmic transport|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|regulation of endodeoxyribonuclease activity|regulation of endoribonuclease activity|ribosome assembly|signal transduction	nucleolus|nucleoplasm|ribonucleoprotein complex|spindle pole centrosome	histone binding|NF-kappaB binding|protein binding|protein heterodimerization activity|protein homodimerization activity|ribosomal large subunit binding|ribosomal small subunit binding|RNA binding|Tat protein binding|transcription coactivator activity|unfolded protein binding	g.chr5:170827880C>A	M26697	CCDS4376.1, CCDS4377.1, CCDS43399.1	5q35.1	2014-09-17			ENSG00000181163	ENSG00000181163			7910	protein-coding gene	gene with protein product	"""nucleolar phosphoprotein B23"", ""numatrin"", ""nucleophosmin/nucleoplasmin family, member 1"""	164040				8471164, 8122112	Standard	NM_002520		Approved	B23, NPM	uc003mbi.3	P06748	OTTHUMG00000130465	ENST00000296930.5:c.620C>A	5.37:g.170827880C>A	ENSP00000296930:p.Ser207*					NPM1_ENST00000393820.2_Nonsense_Mutation_p.S207*|NPM1_ENST00000351986.6_Intron|NPM1_ENST00000517671.1_Nonsense_Mutation_p.S207*	p.S207*	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		8	921	+	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	207					A8K3N7|B5BU00|D3DQL6|P08693|Q12826|Q13440|Q13441|Q14115|Q5EU94|Q5EU95|Q5EU96|Q5EU97|Q5EU98|Q5EU99|Q6V962|Q8WTW5|Q96AT6|Q96DC4|Q96EA5|Q9BYG9|Q9UDJ7	Nonsense_Mutation	SNP	ENST00000296930.5	37	c.620C>A	CCDS4376.1	.	.	.	.	.	.	.	.	.	.	C	37	6.559008	0.97663	.	.	ENSG00000181163	ENST00000517671;ENST00000296930;ENST00000393820	.	.	.	4.39	4.39	0.52855	.	0.540943	0.18436	U	0.141282	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.0557	0.64767	0.0:1.0:0.0:0.0	.	.	.	.	X	207	.	ENSP00000296930:S207X	S	+	2	0	NPM1	170760485	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.156000	0.58138	2.150000	0.67090	0.561000	0.74099	TCA		0.388	NPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252858.2	NM_002520		9	601	1	0	7.93312e-07	1.49906e-05	0.000106544	9	601				
CTSC	1075	broad.mit.edu	37	11	88029368	88029368	+	Silent	SNP	T	T	C			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr11:88029368T>C	ENST00000227266.5	-	6	936	c.822A>G	c.(820-822)ctA>ctG	p.L274L		NM_001814.4	NP_001805	P53634	CATC_HUMAN	cathepsin C	274					aging (GO:0007568)|immune response (GO:0006955)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of proteolysis involved in cellular protein catabolic process (GO:1903052)|proteolysis (GO:0006508)|response to organic substance (GO:0010033)|T cell mediated cytotoxicity (GO:0001913)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)	chaperone binding (GO:0051087)|chloride ion binding (GO:0031404)|cysteine-type peptidase activity (GO:0008234)|peptidase activator activity involved in apoptotic process (GO:0016505)|phosphatase binding (GO:0019902)|serine-type endopeptidase activity (GO:0004252)			large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AATTGTTGGTTAGTATACGGA	0.448																																						ENST00000227266.5																			0				large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22						c.(820-822)ctA>ctG		cathepsin C							142.0	137.0	138.0					11																	88029368		2201	4299	6500	SO:0001819	synonymous_variant	1075				immune response	lysosome	cysteine-type endopeptidase activity	g.chr11:88029368T>C	AK223038	CCDS8282.1, CCDS31654.1, CCDS44693.1	11q14.2	2014-09-17			ENSG00000109861	ENSG00000109861	3.4.14.1	"""Cathepsins"""	2528	protein-coding gene	gene with protein product	"""dipeptidyl peptidase 1"""	602365		PLS, PALS		7649281, 9092576	Standard	NM_148170		Approved	DPP1	uc001pck.4	P53634	OTTHUMG00000167290	ENST00000227266.5:c.822A>G	11.37:g.88029368T>C							p.L274L	NM_001814.4	NP_001805.3	P53634	CATC_HUMAN			6	936	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	274					A8K7V2|B5MDD5|Q2HIY8|Q53G93|Q71E75|Q71E76|Q7M4N9|Q7Z3G7|Q7Z5U7|Q8WY99|Q8WYA7|Q8WYA8	Silent	SNP	ENST00000227266.5	37	c.822A>G	CCDS8282.1																																																																																				0.448	CTSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394019.2	NM_001814		47	415	0	0	0	0.000147903	0	47	415				
LRP2	4036	broad.mit.edu	37	2	170070176	170070176	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:170070176G>T	ENST00000263816.3	-	36	6316	c.6031C>A	c.(6031-6033)Cac>Aac	p.H2011N		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2011					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	CTGCGTCTGTGATAAACTTGA	0.393																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(6031-6033)Cac>Aac		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						138.0	136.0	137.0					2																	170070176		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170070176G>T		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.6031C>A	2.37:g.170070176G>T	ENSP00000263816:p.His2011Asn						p.H2011N	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	36	6316	-			2011					O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.6031C>A	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	9.860	1.195950	0.22037	.	.	ENSG00000081479	ENST00000263816	D	0.91068	-2.78	5.96	2.86	0.33363	Six-bladed beta-propeller, TolB-like (1);	0.334175	0.36854	N	0.002371	T	0.81484	0.4832	L	0.51853	1.615	0.80722	D	1	P	0.35656	0.514	B	0.21708	0.036	T	0.73424	-0.3987	10	0.17832	T	0.49	.	5.3453	0.16006	0.5156:0.0:0.4844:0.0	.	2011	P98164	LRP2_HUMAN	N	2011	ENSP00000263816:H2011N	ENSP00000263816:H2011N	H	-	1	0	LRP2	169778422	1.000000	0.71417	0.980000	0.43619	0.987000	0.75469	2.294000	0.43567	0.873000	0.35799	0.650000	0.86243	CAC		0.393	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		12	882	1	0	0.000151284	0.000151284	0.00973904	12	882				
SLITRK5	26050	broad.mit.edu	37	13	88327922	88327922	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr13:88327922G>T	ENST00000325089.6	+	2	498	c.279G>T	c.(277-279)ttG>ttT	p.L93F	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	93					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GAAACCTTTTGAACCGTCTCT	0.463																																						ENST00000325089.6																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81						c.(277-279)ttG>ttT		SLIT and NTRK-like family, member 5							159.0	165.0	163.0					13																	88327922		2203	4300	6503	SO:0001583	missense	26050					integral to membrane		g.chr13:88327922G>T	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.279G>T	13.37:g.88327922G>T	ENSP00000366283:p.Leu93Phe					SLITRK5_ENST00000400028.3_Intron	p.L93F	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN			2	498	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		93					B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	37	c.279G>T	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.261554	0.39995	.	.	ENSG00000165300	ENST00000325089	T	0.60424	0.19	5.94	5.94	0.96194	.	0.000000	0.64402	D	0.000003	T	0.70029	0.3177	L	0.58925	1.835	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.68610	-0.5363	9	.	.	.	-7.6811	11.1672	0.48550	0.0829:0.0:0.9171:0.0	.	93	O94991	SLIK5_HUMAN	F	93	ENSP00000366283:L93F	.	L	+	3	2	SLITRK5	87125923	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.494000	0.35616	2.826000	0.97356	0.561000	0.74099	TTG		0.463	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			14	1209	1	0	6.40141e-05	6.40141e-05	0.00496729	14	1209				
GUF1	60558	broad.mit.edu	37	4	44693722	44693722	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr4:44693722C>A	ENST00000281543.5	+	13	1713	c.1519C>A	c.(1519-1521)Caa>Aaa	p.Q507K	RP11-700J17.1_ENST00000610260.1_RNA|GUF1_ENST00000506793.1_3'UTR	NM_021927.2	NP_068746.2			GUF1 GTPase homolog (S. cerevisiae)											breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						ATTTATTGATCAAAATAGAGT	0.318																																						ENST00000281543.5																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						c.(1519-1521)Caa>Aaa		GUF1 GTPase homolog (S. cerevisiae)							91.0	103.0	99.0					4																	44693722		2200	4279	6479	SO:0001583	missense	60558				translation	mitochondrial inner membrane	GTP binding|GTPase activity	g.chr4:44693722C>A		CCDS3468.1	4p13	2006-02-16			ENSG00000151806	ENSG00000151806			25799	protein-coding gene	gene with protein product						8553703	Standard	NM_021927		Approved	FLJ13220	uc003gww.4	Q8N442	OTTHUMG00000128608	ENST00000281543.5:c.1519C>A	4.37:g.44693722C>A	ENSP00000281543:p.Gln507Lys					GUF1_ENST00000506793.1_3'UTR	p.Q507K	NM_021927.2	NP_068746.2	Q8N442	GUF1_HUMAN			13	1713	+			507						Missense_Mutation	SNP	ENST00000281543.5	37	c.1519C>A	CCDS3468.1	.	.	.	.	.	.	.	.	.	.	C	12.23	1.876613	0.33162	.	.	ENSG00000151806	ENST00000281543	T	0.62105	0.05	5.11	2.31	0.28768	Elongation factor G/III/V (1);Translation elongation factor EFG/EF2, C-terminal (3);	0.289069	0.37348	N	0.002131	T	0.47948	0.1473	N	0.17278	0.47	0.26066	N	0.981284	B	0.19331	0.035	B	0.21151	0.033	T	0.35400	-0.9790	10	0.42905	T	0.14	-3.6133	17.6166	0.88069	0.0:0.3381:0.6619:0.0	.	507	Q8N442	GUF1_HUMAN	K	507	ENSP00000281543:Q507K	ENSP00000281543:Q507K	Q	+	1	0	GUF1	44388479	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.451000	0.66632	0.218000	0.20820	-0.165000	0.13383	CAA		0.318	GUF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250469.3	NM_021927		12	1033	1	0	5.50884e-06	0.00010058	0.000617672	12	1033				
RGS13	6003	broad.mit.edu	37	1	192627387	192627387	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:192627387C>A	ENST00000391995.2	+	6	472	c.184C>A	c.(184-186)Caa>Aaa	p.Q62K	RGS13_ENST00000482095.1_3'UTR|RGS13_ENST00000543215.1_Missense_Mutation_p.Q62K	NM_002927.4	NP_002918.1	O14921	RGS13_HUMAN	regulator of G-protein signaling 13	62	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|skin(1)	19						CGAGAATATTCAATTCTGGAT	0.383																																						ENST00000391995.2																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|skin(1)	19						c.(184-186)Caa>Aaa		regulator of G-protein signaling 13							85.0	85.0	85.0					1																	192627387		2203	4300	6503	SO:0001583	missense	6003					plasma membrane	GTPase activator activity|signal transducer activity	g.chr1:192627387C>A	AF030107	CCDS1376.1	1q31.2	2008-02-05	2007-08-14		ENSG00000127074	ENSG00000127074		"""Regulators of G-protein signaling"""	9995	protein-coding gene	gene with protein product		607190	"""regulator of G-protein signalling 13"""			11875076	Standard	NM_144766		Approved		uc001gsk.3	O14921	OTTHUMG00000035601	ENST00000391995.2:c.184C>A	1.37:g.192627387C>A	ENSP00000375853:p.Gln62Lys					RGS13_ENST00000543215.1_Missense_Mutation_p.Q62K|RGS13_ENST00000482095.1_3'UTR	p.Q62K	NM_002927.4	NP_002918.1	O14921	RGS13_HUMAN			6	472	+			62			RGS.		Q6PGR2|Q8TD63|Q9BX45	Missense_Mutation	SNP	ENST00000391995.2	37	c.184C>A	CCDS1376.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.291914	0.40594	.	.	ENSG00000127074	ENST00000391995;ENST00000543215	T;T	0.01871	4.59;4.59	5.88	0.446	0.16602	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);Regulator of G-protein signaling, domain 1 (1);	0.251398	0.46758	N	0.000278	T	0.01092	0.0036	N	0.03177	-0.4	0.30253	N	0.79391	B	0.02656	0.0	B	0.10450	0.005	T	0.38023	-0.9680	10	0.38643	T	0.18	.	6.0463	0.19762	0.415:0.4318:0.1532:0.0	.	62	O14921	RGS13_HUMAN	K	62	ENSP00000375853:Q62K;ENSP00000442837:Q62K	ENSP00000375853:Q62K	Q	+	1	0	RGS13	190894010	1.000000	0.71417	0.993000	0.49108	0.950000	0.60333	1.591000	0.36665	0.108000	0.17862	-0.425000	0.05940	CAA		0.383	RGS13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086400.1	NM_002927		8	355	1	0	2.17888e-05	2.17888e-05	0.00213033	8	355				
NAE1	8883	broad.mit.edu	37	16	66842917	66842917	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr16:66842917C>A	ENST00000290810.3	-	16	1309	c.1212G>T	c.(1210-1212)ttG>ttT	p.L404F	NAE1_ENST00000359087.4_Missense_Mutation_p.L407F|NAE1_ENST00000394074.2_Missense_Mutation_p.L315F|NAE1_ENST00000379463.2_Missense_Mutation_p.L398F			Q13564	ULA1_HUMAN	NEDD8 activating enzyme E1 subunit 1	404					mitotic DNA replication checkpoint (GO:0033314)|neuron apoptotic process (GO:0051402)|protein neddylation (GO:0045116)|regulation of apoptotic process (GO:0042981)|regulation of neuron apoptotic process (GO:0043523)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|protein heterodimerization activity (GO:0046982)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	Adenosine triphosphate(DB00171)	TAATTGTATCCAAACCATATT	0.308																																						ENST00000379463.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1192-1194)ttG>ttT		NEDD8 activating enzyme E1 subunit 1	Adenosine triphosphate(DB00171)						88.0	83.0	84.0					16																	66842917		2200	4300	6500	SO:0001583	missense	8883				apoptosis|cell cycle|DNA replication|mitotic cell cycle DNA replication checkpoint|protein neddylation|signal transduction	cytoplasm|insoluble fraction|plasma membrane	catalytic activity|protein heterodimerization activity	g.chr16:66842917C>A	U50939	CCDS10820.1, CCDS42171.1, CCDS42172.1, CCDS67050.1	16q22	2013-09-26	2007-12-11	2007-12-11	ENSG00000159593	ENSG00000159593		"""Ubiquitin-like modifier activating enzymes"""	621	protein-coding gene	gene with protein product		603385	"""amyloid beta precursor protein binding protein 1, 59kDa"""	APPBP1		8626687, 12740388	Standard	XM_005256215		Approved	ula-1	uc002eqf.3	Q13564	OTTHUMG00000137513	ENST00000290810.3:c.1212G>T	16.37:g.66842917C>A	ENSP00000290810:p.Leu404Phe					NAE1_ENST00000359087.4_Missense_Mutation_p.L407F|NAE1_ENST00000290810.3_Missense_Mutation_p.L404F|NAE1_ENST00000394074.2_Missense_Mutation_p.L315F	p.L398F	NM_001018159.1	NP_001018169.1	Q13564	ULA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	17	1386	-		Ovarian(137;0.0563)	404					A6NCK0|A6NFN4|A8MU28|B2R700|B3KUP9	Missense_Mutation	SNP	ENST00000290810.3	37	c.1194G>T	CCDS10820.1	.	.	.	.	.	.	.	.	.	.	C	11.82	1.753914	0.31046	.	.	ENSG00000159593	ENST00000359087;ENST00000290810;ENST00000379463;ENST00000394074	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	5.14	3.2	0.36748	Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.074073	0.56097	D	0.000034	T	0.31482	0.0798	N	0.25647	0.755	0.48975	D	0.999734	B;B;B	0.25609	0.002;0.065;0.13	B;B;B	0.23716	0.004;0.041;0.048	T	0.13791	-1.0496	10	0.51188	T	0.08	-11.51	7.5134	0.27587	0.0:0.7108:0.0:0.2892	.	407;404;398	A6NCK0;Q13564;A6NFN4	.;ULA1_HUMAN;.	F	407;404;398;315	ENSP00000351990:L407F;ENSP00000290810:L404F;ENSP00000368776:L398F;ENSP00000377637:L315F	ENSP00000290810:L404F	L	-	3	2	NAE1	65400418	0.997000	0.39634	0.983000	0.44433	0.906000	0.53458	0.839000	0.27586	1.167000	0.42706	0.650000	0.86243	TTG		0.308	NAE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268832.1	NM_003905		8	557	1	0	3.09899e-07	1.12685e-05	4.20825e-05	8	557				
ZC2HC1A	51101	broad.mit.edu	37	8	79590841	79590841	+	Missense_Mutation	SNP	G	G	T	rs201638521		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr8:79590841G>T	ENST00000263849.4	+	3	239	c.137G>T	c.(136-138)cGg>cTg	p.R46L	ZC2HC1A_ENST00000521176.1_3'UTR	NM_016010.2	NP_057094.2	Q96GY0	ZC21A_HUMAN	zinc finger, C2HC-type containing 1A	46							metal ion binding (GO:0046872)										ACTAAAAAACGGAAGACTTTT	0.368																																						ENST00000263849.4																			0											c.(136-138)cGg>cTg		zinc finger, C2HC-type containing 1A							125.0	133.0	130.0					8																	79590841		2203	4300	6503	SO:0001583	missense	51101							g.chr8:79590841G>T		CCDS6223.1	8q21.11	2013-01-10	2012-02-03	2012-02-03	ENSG00000104427	ENSG00000104427		"""Zinc fingers, C2HC-type containing"""	24277	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 70"", ""family with sequence similarity 164, member A"""	C8orf70, FAM164A		10810093	Standard	NM_016010		Approved	CGI-62	uc003ybd.3	Q96GY0	OTTHUMG00000164619	ENST00000263849.4:c.137G>T	8.37:g.79590841G>T	ENSP00000263849:p.Arg46Leu					ZC2HC1A_ENST00000521176.1_3'UTR	p.R46L	NM_016010.2	NP_057094.2	Q96GY0	F164A_HUMAN			3	239	+			46					Q9Y372	Missense_Mutation	SNP	ENST00000263849.4	37	c.137G>T	CCDS6223.1	.	.	.	.	.	.	.	.	.	.	G	34	5.329823	0.95733	.	.	ENSG00000104427	ENST00000263849	T	0.60040	0.22	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	D	0.83372	0.5240	M	0.93420	3.415	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86618	0.1877	9	.	.	.	-10.7436	19.8459	0.96707	0.0:0.0:1.0:0.0	.	46	Q96GY0	F164A_HUMAN	L	46	ENSP00000263849:R46L	.	R	+	2	0	FAM164A	79753396	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.144000	0.94629	2.788000	0.95919	0.585000	0.79938	CGG		0.368	ZC2HC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379423.2	NM_016010		13	1019	1	0	2.17888e-05	2.17888e-05	0.00213033	13	1019				
SLC9C1	285335	broad.mit.edu	37	3	111996678	111996678	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:111996678C>A	ENST00000305815.5	-	5	600	c.348G>T	c.(346-348)ttG>ttT	p.L116F	SLC9C1_ENST00000467397.1_5'Flank|SLC9C1_ENST00000487372.1_Missense_Mutation_p.L116F	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	116					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										TATAATTAACCAAAAAGCCGG	0.313																																						ENST00000305815.5																			0											c.(346-348)ttG>ttT		solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1							54.0	61.0	58.0					3																	111996678		2197	4298	6495	SO:0001583	missense	285335				cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity	g.chr3:111996678C>A	AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"""Solute carriers"""	31401	protein-coding gene	gene with protein product	"""sperm-NHE"""	612738	"""solute carrier family 9, isoform 10"", ""solute carrier family 9, member 10"""	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.348G>T	3.37:g.111996678C>A	ENSP00000306627:p.Leu116Phe					SLC9C1_ENST00000487372.1_Missense_Mutation_p.L116F	p.L116F	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN			5	600	-			116					Q6ZRP4|Q7RTP2	Missense_Mutation	SNP	ENST00000305815.5	37	c.348G>T	CCDS33817.1	.	.	.	.	.	.	.	.	.	.	C	1.082	-0.666749	0.03428	.	.	ENSG00000172139	ENST00000305815;ENST00000487372;ENST00000486574	T;T;T	0.03004	4.08;4.08;4.08	5.13	-7.8	0.01214	Cation/H+ exchanger (1);	1.635720	0.03751	N	0.256565	T	0.02304	0.0071	L	0.27053	0.805	0.09310	N	1	B;B	0.15141	0.012;0.005	B;B	0.16289	0.015;0.011	T	0.43475	-0.9389	10	0.38643	T	0.18	.	0.9292	0.01331	0.4377:0.1391:0.1927:0.2305	.	116;116	Q4G0N8-2;Q4G0N8	.;S9A10_HUMAN	F	116;116;43	ENSP00000306627:L116F;ENSP00000420688:L116F;ENSP00000417274:L43F	ENSP00000306627:L116F	L	-	3	2	SLC9A10	113479368	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.968000	0.00669	-1.204000	0.02648	-1.513000	0.00942	TTG		0.313	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1	NM_183061		9	506	1	0	3.86212e-05	3.86212e-05	0.00332401	9	506				
SYCP1	6847	broad.mit.edu	37	1	115455754	115455754	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:115455754C>A	ENST00000369522.3	+	19	1870	c.1630C>A	c.(1630-1632)Cag>Aag	p.Q544K	SYCP1_ENST00000369518.1_Missense_Mutation_p.Q544K	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	544					chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACTCAAGAATCAGCAAGAAGA	0.368																																						ENST00000369522.3																		RGS22/SYCP1(2)	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48						c.(1630-1632)Cag>Aag		synaptonemal complex protein 1							102.0	109.0	107.0					1																	115455754		2203	4298	6501	SO:0001583	missense	6847				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	g.chr1:115455754C>A	D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"""cancer/testis antigen 8"""	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.1630C>A	1.37:g.115455754C>A	ENSP00000358535:p.Gln544Lys					SYCP1_ENST00000369518.1_Missense_Mutation_p.Q544K	p.Q544K	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	19	1870	+	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)	544					O14963|Q5VXJ6	Missense_Mutation	SNP	ENST00000369522.3	37	c.1630C>A	CCDS879.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.513309	0.27123	.	.	ENSG00000198765	ENST00000369522;ENST00000536734;ENST00000455987;ENST00000369518	T;T;T	0.42900	0.96;0.96;0.96	5.34	4.42	0.53409	.	0.643340	0.15076	N	0.281944	T	0.16041	0.0386	L	0.36672	1.1	0.20926	N	0.99982	B;B	0.23128	0.08;0.08	B;B	0.23018	0.043;0.043	T	0.04191	-1.0970	10	0.27785	T	0.31	1.0825	10.3177	0.43747	0.0:0.9063:0.0:0.0937	.	544;544	B7ZLS9;Q15431	.;SYCP1_HUMAN	K	544	ENSP00000358535:Q544K;ENSP00000410011:Q544K;ENSP00000358531:Q544K	ENSP00000358531:Q544K	Q	+	1	0	SYCP1	115257277	0.525000	0.26290	1.000000	0.80357	0.739000	0.42172	1.046000	0.30354	2.476000	0.83614	0.655000	0.94253	CAG		0.368	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033386.1	NM_003176		11	665	1	0	0.00010058	0.00010058	0.0072096	11	665				
RGS12	6002	broad.mit.edu	37	4	3419185	3419185	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr4:3419185G>T	ENST00000344733.5	+	9	3582	c.2678G>T	c.(2677-2679)cGg>cTg	p.R893L	RGS12_ENST00000508158.1_3'UTR|RGS12_ENST00000336727.3_Missense_Mutation_p.R893L|RGS12_ENST00000306648.7_Missense_Mutation_p.R291L|RGS12_ENST00000382788.3_Missense_Mutation_p.R893L|RGS12_ENST00000338806.4_Missense_Mutation_p.R245L|RGS12_ENST00000538395.1_Missense_Mutation_p.R235L	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	893					positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GAGAAGAAGCGGAAAGGCGCG	0.552																																						ENST00000336727.3																			0				autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(2677-2679)cGg>cTg		regulator of G-protein signaling 12							55.0	57.0	56.0					4																	3419185		2203	4300	6503	SO:0001583	missense	6002					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	g.chr4:3419185G>T	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"""Regulators of G-protein signaling"""	9994	protein-coding gene	gene with protein product		602512	"""regulator of G-protein signalling 12"""			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.2678G>T	4.37:g.3419185G>T	ENSP00000339381:p.Arg893Leu					RGS12_ENST00000344733.5_Missense_Mutation_p.R893L|RGS12_ENST00000382788.3_Missense_Mutation_p.R893L|RGS12_ENST00000338806.4_Missense_Mutation_p.R245L|RGS12_ENST00000306648.7_Missense_Mutation_p.R291L|RGS12_ENST00000538395.1_Missense_Mutation_p.R235L|RGS12_ENST00000508158.1_3'UTR	p.R893L	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	9	3582	+			893					B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Missense_Mutation	SNP	ENST00000344733.5	37	c.2678G>T	CCDS3366.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.440438	0.43326	.	.	ENSG00000159788	ENST00000344733;ENST00000336727;ENST00000382788;ENST00000306648;ENST00000338806;ENST00000538395	T;T;T;T;T;T	0.37235	1.49;1.49;1.49;1.21;1.23;1.26	4.34	4.34	0.51931	.	0.065361	0.64402	D	0.000019	T	0.49508	0.1561	M	0.65975	2.015	0.09310	N	0.999992	P;D;P;D;D;B;P;D;P	0.60575	0.896;0.988;0.802;0.988;0.977;0.393;0.896;0.968;0.937	P;P;P;P;D;B;P;P;P	0.63703	0.604;0.724;0.483;0.724;0.917;0.169;0.676;0.734;0.822	T	0.39418	-0.9615	10	0.42905	T	0.14	-19.7633	6.3948	0.21607	0.2155:0.0:0.7845:0.0	.	235;92;235;92;235;245;291;893;893	B7Z764;B3KVS7;B7Z8B8;A8K440;O14924-2;O14924-3;Q8WX95;O14924;O14924-4	.;.;.;.;.;.;.;RGS12_HUMAN;.	L	893;893;893;291;245;235	ENSP00000339381:R893L;ENSP00000338509:R893L;ENSP00000372238:R893L;ENSP00000304459:R291L;ENSP00000342133:R245L;ENSP00000438888:R235L	ENSP00000304459:R291L	R	+	2	0	RGS12	3388983	0.980000	0.34600	0.041000	0.18516	0.357000	0.29423	4.395000	0.59678	1.982000	0.57802	0.563000	0.77884	CGG		0.552	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	NM_002926		8	275	1	0	0.00010058	0.00010058	0.0072096	8	275				
RBM12B	389677	broad.mit.edu	37	8	94745981	94745981	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr8:94745981C>A	ENST00000399300.2	-	3	2871	c.2658G>T	c.(2656-2658)gtG>gtT	p.V886V	RBM12B_ENST00000517700.1_Silent_p.V766V|RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000520961.1_Intron	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	886							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			GACCAAAATTCACAAAAGGGC	0.448																																						ENST00000399300.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30						c.(2656-2658)gtG>gtT		RNA binding motif protein 12B							158.0	161.0	160.0					8																	94745981		1799	4068	5867	SO:0001819	synonymous_variant	389677						nucleotide binding|RNA binding	g.chr8:94745981C>A		CCDS43755.1	8q22	2014-05-20			ENSG00000183808	ENSG00000183808		"""RNA binding motif (RRM) containing"""	32310	protein-coding gene	gene with protein product							Standard	NM_203390		Approved		uc003yfz.3	Q8IXT5	OTTHUMG00000164317	ENST00000399300.2:c.2658G>T	8.37:g.94745981C>A						RBM12B_ENST00000517700.1_Silent_p.V766V|RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000520961.1_Intron	p.V886V	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.0168)		3	2871	-	Breast(36;4.14e-07)		886					A8MYB5	Silent	SNP	ENST00000399300.2	37	c.2658G>T	CCDS43755.1																																																																																				0.448	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383603.1	NM_203390		17	1211	1	0	0.000151284	0.000151284	0.00973904	17	1211				
TIMM21	29090	broad.mit.edu	37	18	71822391	71822391	+	Nonsense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr18:71822391G>T	ENST00000169551.6	+	2	611	c.313G>T	c.(313-315)Gga>Tga	p.G105*	TIMM21_ENST00000580087.1_Nonsense_Mutation_p.G105*	NM_014177.2	NP_054896.2	Q9BVV7	TIM21_HUMAN	translocase of inner mitochondrial membrane 21 homolog (yeast)	105					cellular protein metabolic process (GO:0044267)|mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex IV assembly (GO:0033617)|protein import into mitochondrial matrix (GO:0030150)|protein targeting to mitochondrion (GO:0006626)	integral component of membrane (GO:0016021)|mitochondrial inner membrane presequence translocase complex (GO:0005744)											GAAAGAAGCCGGAAGAGATTT	0.428																																						ENST00000580087.1																			0											c.(313-315)Gga>Tga		translocase of inner mitochondrial membrane 21 homolog (yeast)							97.0	104.0	102.0					18																	71822391		2203	4300	6503	SO:0001587	stop_gained	29090				protein transport|transmembrane transport	integral to membrane|mitochondrial membrane		g.chr18:71822391G>T	BC000892	CCDS12003.1	18q22.3	2011-11-25	2011-11-25	2011-11-25	ENSG00000075336	ENSG00000075336			25010	protein-coding gene	gene with protein product		615180	"""chromosome 18 open reading frame 55"""	C18orf55		11042152	Standard	NM_014177		Approved	HSPC154, TIM21	uc010dqr.1	Q9BVV7	OTTHUMG00000132844	ENST00000169551.6:c.313G>T	18.37:g.71822391G>T	ENSP00000169551:p.Gly105*					TIMM21_ENST00000169551.6_Nonsense_Mutation_p.G105*	p.G105*			Q9BVV7	TI21L_HUMAN			2	599	+			105					Q9P010	Nonsense_Mutation	SNP	ENST00000169551.6	37	c.313G>T	CCDS12003.1	.	.	.	.	.	.	.	.	.	.	G	40	8.413223	0.98801	.	.	ENSG00000075336	ENST00000169551	.	.	.	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-28.1893	18.8678	0.92300	0.0:0.0:1.0:0.0	.	.	.	.	X	105	.	ENSP00000169551:G105X	G	+	1	0	C18orf55	69973371	1.000000	0.71417	0.983000	0.44433	0.944000	0.59088	9.260000	0.95568	2.532000	0.85374	0.650000	0.86243	GGA		0.428	TIMM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256318.1	NM_014177		7	495	1	0	2.17888e-05	2.17888e-05	0.00213033	7	495				
SPAG17	200162	broad.mit.edu	37	1	118616493	118616493	+	Missense_Mutation	SNP	G	G	T	rs146282295		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:118616493G>T	ENST00000336338.5	-	17	2434	c.2369C>A	c.(2368-2370)cCg>cAg	p.P790Q		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	790						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CAGTACTTTCGGTTTAAAATG	0.428																																						ENST00000336338.5																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123						c.(2368-2370)cCg>cAg		sperm associated antigen 17							164.0	156.0	159.0					1																	118616493		2203	4300	6503	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118616493G>T		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.2369C>A	1.37:g.118616493G>T	ENSP00000337804:p.Pro790Gln						p.P790Q	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	17	2434	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	790					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.2369C>A	CCDS899.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.828388	0.71143	.	.	ENSG00000155761	ENST00000336338	T	0.28454	1.61	5.35	5.35	0.76521	.	0.100758	0.64402	D	0.000001	T	0.50871	0.1641	M	0.71581	2.175	0.37958	D	0.932887	D	0.89917	1.0	D	0.91635	0.999	T	0.54275	-0.8318	10	0.72032	D	0.01	.	19.4213	0.94723	0.0:0.0:1.0:0.0	.	790	Q6Q759	SPG17_HUMAN	Q	790	ENSP00000337804:P790Q	ENSP00000337804:P790Q	P	-	2	0	SPAG17	118418016	1.000000	0.71417	0.954000	0.39281	0.901000	0.52897	5.245000	0.65405	2.669000	0.90835	0.650000	0.86243	CCG		0.428	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		10	633	1	0	6.40141e-05	6.40141e-05	0.00496729	10	633				
FRG1B	284802	broad.mit.edu	37	20	29628296	29628296	+	Nonsense_Mutation	SNP	A	A	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr20:29628296A>T	ENST00000278882.3	+	6	678	c.298A>T	c.(298-300)Aaa>Taa	p.K100*	FRG1B_ENST00000439954.2_Nonsense_Mutation_p.K105*|FRG1B_ENST00000358464.4_Nonsense_Mutation_p.K100*			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	100										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						CATAGAAGCAAAAAGTAAAAC	0.363																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(298-300)Aaa>Taa																																						SO:0001587	stop_gained	0							g.chr20:29628296A>T			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.298A>T	20.37:g.29628296A>T	ENSP00000278882:p.Lys100*					FRG1B_ENST00000439954.2_Nonsense_Mutation_p.K105*|FRG1B_ENST00000358464.4_Nonsense_Mutation_p.K100*	p.K100*							6	678	+								C4AME5	Nonsense_Mutation	SNP	ENST00000278882.3	37	c.298A>T		.	.	.	.	.	.	.	.	.	.	a	35	5.542616	0.96474	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	.	.	.	2.08	2.08	0.27032	.	0.204250	0.50627	D	0.000116	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.1326	0.14919	0.6914:0.3086:0.0:0.0	.	.	.	.	X	100;105;100	.	ENSP00000278882:K100X	K	+	1	0	FRG1B	28241957	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	6.124000	0.71620	1.208000	0.43306	0.347000	0.21830	AAA		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		11	586	0	0	0	2.31682e-05	0	11	586				
BMS1P20	96610	broad.mit.edu	37	22	22661478	22661478	+	RNA	SNP	T	T	G			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr22:22661478T>G	ENST00000426066.1	+	0	368					NR_027293.1				BMS1 pseudogene 20																		CAGATGCGTCTGAAGAAACAT	0.488																																						ENST00000426066.1																			0																																																			0							g.chr22:22661478T>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22661478T>G								NR_027293.1						0	368	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.488	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			11	287	0	0	0	2.27731e-05	0	11	287				
OSER1	51526	broad.mit.edu	37	20	42835547	42835547	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr20:42835547G>T	ENST00000372970.2	-	4	231	c.51C>A	c.(49-51)ttC>ttA	p.F17L	OSER1_ENST00000255174.2_Missense_Mutation_p.F17L			Q9NX31	OSER1_HUMAN	oxidative stress responsive serine-rich 1	17					cellular response to hydrogen peroxide (GO:0070301)												TTAATTTTTTGAAAGCAGTCT	0.323																																						ENST00000372970.2																			0											c.(49-51)ttC>ttA		oxidative stress responsive serine-rich 1							101.0	93.0	96.0					20																	42835547		2203	4300	6503	SO:0001583	missense	51526							g.chr20:42835547G>T	AL035447	CCDS13327.1	20q13.11	2013-05-17	2013-05-17	2013-05-17	ENSG00000132823	ENSG00000132823			16105	protein-coding gene	gene with protein product	"""peroxide-inducible transcript 1"", ""oxidative stress-responsive 1"""		"""chromosome 20 open reading frame 111"""	C20orf111		17148688	Standard	NM_016470		Approved	dJ1183I21.1, HSPC207, Perit1, Osr1		Q9NX31	OTTHUMG00000032518	ENST00000372970.2:c.51C>A	20.37:g.42835547G>T	ENSP00000362061:p.Phe17Leu					OSER1_ENST00000255174.2_Missense_Mutation_p.F17L	p.F17L							4	231	-								B2RCK4|O95912|Q9NZ84|Q9P0R8	Missense_Mutation	SNP	ENST00000372970.2	37	c.51C>A	CCDS13327.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.295360	0.81025	.	.	ENSG00000132823	ENST00000255174;ENST00000372970	T;T	0.61392	0.11;0.11	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.70116	0.3187	L	0.52759	1.655	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.71427	-0.4596	10	0.87932	D	0	-16.4206	13.2149	0.59854	0.073:0.0:0.927:0.0	.	17	Q9NX31	CT111_HUMAN	L	17	ENSP00000255174:F17L;ENSP00000362061:F17L	ENSP00000255174:F17L	F	-	3	2	C20orf111	42268961	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.742000	0.55097	2.802000	0.96397	0.650000	0.86243	TTC		0.323	OSER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079334.2	NM_016470		11	490	1	0	1.3612e-06	2.31682e-05	0.000177925	11	490				
SENP6	26054	broad.mit.edu	37	6	76425185	76425185	+	Silent	SNP	C	C	A	rs184895201		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr6:76425185C>A	ENST00000447266.2	+	24	3692	c.3214C>A	c.(3214-3216)Cga>Aga	p.R1072R	SENP6_ENST00000541192.1_3'UTR|SENP6_ENST00000370010.2_Silent_p.R1065R|SENP6_ENST00000370014.3_Silent_p.R1072R	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	1072	Protease.				protein desumoylation (GO:0016926)|protein modification by small protein removal (GO:0070646)|protein sumoylation (GO:0016925)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	SUMO-specific protease activity (GO:0016929)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				AGAAGAAATCCGAAACATAAT	0.368													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18477	0.0		0.0	False		,,,				2504	0.0					ENST00000370014.3																			0				breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(3214-3216)Cga>Aga		SUMO1/sentrin specific peptidase 6							125.0	118.0	120.0					6																	76425185		1842	4091	5933	SO:0001819	synonymous_variant	26054				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity	g.chr6:76425185C>A		CCDS43483.1, CCDS47454.1	6q13-q14.3	2008-02-05	2005-08-17		ENSG00000112701	ENSG00000112701			20944	protein-coding gene	gene with protein product		605003	"""SUMO1/sentrin specific protease 6"""				Standard	NM_015571		Approved	SUSP1, KIAA0797	uc003pid.4	Q9GZR1	OTTHUMG00000015060	ENST00000447266.2:c.3214C>A	6.37:g.76425185C>A						SENP6_ENST00000447266.2_Silent_p.R1072R|SENP6_ENST00000541192.1_3'UTR|SENP6_ENST00000370010.2_Silent_p.R1065R	p.R1072R	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN			24	3833	+		all_hematologic(105;0.189)	1072			Protease.		A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	Silent	SNP	ENST00000447266.2	37	c.3214C>A	CCDS47454.1																																																																																				0.368	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041272.2	NM_015571		8	516	1	0	0.000157383	0.000157383	0.00973904	8	516				
KRTAP4-8	728224	broad.mit.edu	37	17	39254013	39254013	+	Missense_Mutation	SNP	G	G	C			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr17:39254013G>C	ENST00000333822.4	-	1	380	c.324C>G	c.(322-324)agC>agG	p.S108R		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	108	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.S108R(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						gcttgcagcagctggacacac	0.662																																						ENST00000333822.4																			1	Substitution - Missense(1)	p.S108R(1)	lung(1)	endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						c.(322-324)agC>agG		keratin associated protein 4-8							4.0	6.0	6.0					17																	39254013		638	1500	2138	SO:0001583	missense	728224					keratin filament		g.chr17:39254013G>C	AJ406940	CCDS45674.1	17q21.2	2013-06-25			ENSG00000204880	ENSG00000204880		"""Keratin associated proteins"""	17230	protein-coding gene	gene with protein product						11279113	Standard	NM_031960		Approved	KAP4.8	uc010wfo.2	Q9BYQ9	OTTHUMG00000133580	ENST00000333822.4:c.324C>G	17.37:g.39254013G>C	ENSP00000328444:p.Ser108Arg						p.S108R	NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN			1	380	-			108			25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].		A8MSH3	Missense_Mutation	SNP	ENST00000333822.4	37	c.324C>G	CCDS45674.1	.	.	.	.	.	.	.	.	.	.	.	16.95	3.264696	0.59431	.	.	ENSG00000204880	ENST00000333822;ENST00000332991	T	0.00646	6.0	3.21	1.14	0.20703	.	2.295710	0.03395	U	0.202429	T	0.01695	0.0054	M	0.89287	3.02	0.27072	N	0.963304	B	0.34349	0.45	B	0.34093	0.175	T	0.47195	-0.9136	10	0.52906	T	0.07	.	5.4866	0.16753	0.2737:0.0:0.7263:0.0	.	108	Q9BYQ9	KRA48_HUMAN	R	108;93	ENSP00000328444:S108R	ENSP00000414561:S93R	S	-	3	2	KRTAP4-8	36507539	1.000000	0.71417	0.752000	0.31206	0.989000	0.77384	3.228000	0.51270	0.201000	0.20466	0.449000	0.29647	AGC		0.662	KRTAP4-8-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257684.1	NM_031960		4	136	0	0	0	1.49906e-05	0	4	136				
EXOC2	55770	broad.mit.edu	37	6	549213	549213	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr6:549213C>A	ENST00000230449.4	-	22	2335	c.2200G>T	c.(2200-2202)Gaa>Taa	p.E734*	EXOC2_ENST00000448181.3_Nonsense_Mutation_p.E329*	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	734					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		TTGTGCTTTTCAAAATGTTCT	0.388																																						ENST00000230449.4																			0				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46						c.(2200-2202)Gaa>Taa		exocyst complex component 2							207.0	197.0	201.0					6																	549213		2203	4300	6503	SO:0001587	stop_gained	55770				exocytosis|protein transport			g.chr6:549213C>A	AJ420556	CCDS34327.1	6p25.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000112685	ENSG00000112685			24968	protein-coding gene	gene with protein product		615329	"""SEC5-like 1 (S. cerevisiae)"""	SEC5L1		12575951, 12459492	Standard	NM_018303		Approved	FLJ11026, Sec5p	uc003mtd.4	Q96KP1	OTTHUMG00000137437	ENST00000230449.4:c.2200G>T	6.37:g.549213C>A	ENSP00000230449:p.Glu734*					EXOC2_ENST00000448181.3_Nonsense_Mutation_p.E329*	p.E734*	NM_018303.4	NP_060773.3	Q96KP1	EXOC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)	22	2335	-	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)	734					B2RBE6|Q5JPC8|Q96AN6|Q9NUZ8|Q9UJM7	Nonsense_Mutation	SNP	ENST00000230449.4	37	c.2200G>T	CCDS34327.1	.	.	.	.	.	.	.	.	.	.	C	41	9.092450	0.99062	.	.	ENSG00000112685	ENST00000230449;ENST00000448181	.	.	.	5.41	5.41	0.78517	.	0.047763	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	-11.731	19.1915	0.93669	0.0:1.0:0.0:0.0	.	.	.	.	X	734;329	.	ENSP00000230449:E734X	E	-	1	0	EXOC2	494213	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.004000	0.76317	2.515000	0.84797	0.655000	0.94253	GAA		0.388	EXOC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039627.1	NM_018303		12	671	1	0	6.40141e-05	6.40141e-05	0.00496729	12	671				
CSMD3	114788	broad.mit.edu	37	8	113256691	113256691	+	Missense_Mutation	SNP	G	G	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr8:113256691G>A	ENST00000297405.5	-	65	10578	c.10334C>T	c.(10333-10335)gCa>gTa	p.A3445V	CSMD3_ENST00000455883.2_Missense_Mutation_p.A3276V|CSMD3_ENST00000352409.3_Missense_Mutation_p.A3375V|CSMD3_ENST00000343508.3_Missense_Mutation_p.A3405V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3445	Sushi 28. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A3445V(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGTTCCACCTGCTAAGAAGAA	0.423										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			1	Substitution - Missense(1)	p.A3445V(1)	large_intestine(1)	breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(10333-10335)gCa>gTa		CUB and Sushi multiple domains 3							132.0	116.0	121.0					8																	113256691		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113256691G>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10334C>T	8.37:g.113256691G>A	ENSP00000297405:p.Ala3445Val	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000455883.2_Missense_Mutation_p.A3276V|CSMD3_ENST00000352409.3_Missense_Mutation_p.A3375V|CSMD3_ENST00000343508.3_Missense_Mutation_p.A3405V	p.A3445V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			65	10578	-			3445			Sushi 28.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.10334C>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.522882	0.85600	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.62364	0.03;0.03;0.03;0.03;0.03	5.37	4.5	0.54988	Complement control module (2);Sushi/SCR/CCP (3);	0.171297	0.39615	N	0.001317	T	0.55800	0.1943	N	0.10618	0.005	0.43896	D	0.996523	P;P;D	0.58970	0.532;0.65;0.984	B;B;P	0.59171	0.356;0.428;0.853	T	0.56768	-0.7924	10	0.25106	T	0.35	.	14.1728	0.65522	0.0714:0.0:0.9286:0.0	.	3276;3445;3405	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	V	3405;3445;2715;3276;3375	ENSP00000345799:A3405V;ENSP00000297405:A3445V;ENSP00000341558:A2715V;ENSP00000412263:A3276V;ENSP00000343124:A3375V	ENSP00000297405:A3445V	A	-	2	0	CSMD3	113325867	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	7.554000	0.82212	1.508000	0.48769	-0.229000	0.12294	GCA		0.423	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		52	450	0	0	0	0.000147903	0	52	450				
MS4A5	64232	broad.mit.edu	37	11	60197150	60197150	+	Start_Codon_SNP	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr11:60197150G>T	ENST00000300190.2	+	1	89	c.3G>T	c.(1-3)atG>atT	p.M1I	MS4A5_ENST00000534071.1_3'UTR	NM_023945.2	NP_076434.2	Q9H3V2	MS4A5_HUMAN	membrane-spanning 4-domains, subfamily A, member 5	1						integral component of membrane (GO:0016021)				large_intestine(7)|lung(7)|ovary(1)|skin(1)	16						ACACCATCATGGATTCAAGCA	0.448																																						ENST00000300190.2																			0				large_intestine(7)|lung(7)|ovary(1)|skin(1)	16						c.(1-3)atG>atT		membrane-spanning 4-domains, subfamily A, member 5							111.0	110.0	111.0					11																	60197150		2203	4300	6503	SO:0001582	initiator_codon_variant	64232					integral to membrane	receptor activity	g.chr11:60197150G>T	AB013103	CCDS7987.1	11q12	2008-03-25			ENSG00000166930	ENSG00000166930			13374	protein-coding gene	gene with protein product		606499				11245982, 11401424	Standard	NM_023945		Approved	CD20L2	uc001npo.3	Q9H3V2	OTTHUMG00000167613	ENST00000300190.2:c.3G>T	11.37:g.60197150G>T	ENSP00000300190:p.Met1Ile					MS4A5_ENST00000534071.1_3'UTR	p.M1I	NM_023945.2	NP_076434.2	Q9H3V2	MS4A5_HUMAN			1	89	+			1					Q9BZH1	Translation_Start_Site	SNP	ENST00000300190.2	37	c.3G>T	CCDS7987.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.150767	0.57151	.	.	ENSG00000166930	ENST00000300190	T	0.10573	2.86	4.66	4.66	0.58398	.	0.922269	0.09352	N	0.814023	T	0.33731	0.0873	.	.	.	0.80722	D	1	D	0.63880	0.993	D	0.72982	0.979	T	0.00726	-1.1592	9	0.72032	D	0.01	-20.1452	13.2445	0.60016	0.0:0.0:1.0:0.0	.	1	Q9H3V2	MS4A5_HUMAN	I	1	ENSP00000300190:M1I	ENSP00000300190:M1I	M	+	3	0	MS4A5	59953726	0.997000	0.39634	0.954000	0.39281	0.540000	0.34992	3.950000	0.56676	2.578000	0.87016	0.467000	0.42956	ATG		0.448	MS4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395392.1		Missense_Mutation	8	726	1	0	3.86212e-05	3.86212e-05	0.00332401	8	726				
FPR3	2359	broad.mit.edu	37	19	52327944	52327944	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:52327944C>A	ENST00000339223.4	+	2	1122	c.943C>A	c.(943-945)Cgc>Agc	p.R315S	FPR3_ENST00000595991.1_Missense_Mutation_p.R315S	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	315					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)	p.R315C(1)		NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						AAGACTGATTCGCTCTTTGCC	0.507																																						ENST00000339223.4																			1	Substitution - Missense(1)	p.R315C(1)	large_intestine(1)	NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						c.(943-945)Cgc>Agc		formyl peptide receptor 3							108.0	102.0	104.0					19																	52327944		2203	4300	6503	SO:0001583	missense	2359				cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52327944C>A		CCDS12841.1	19q13.3-q13.4	2012-08-08	2008-04-17	2008-04-17		ENSG00000187474		"""GPCR / Class A : Formyl peptide receptors"""	3828	protein-coding gene	gene with protein product		136539	"""formyl peptide receptor-like 2"""	FPRL2		1612600, 8198572	Standard	NM_002030		Approved	FPRH1, FMLPY, RMLP-R-I	uc002pxt.1	P25089		ENST00000339223.4:c.943C>A	19.37:g.52327944C>A	ENSP00000341821:p.Arg315Ser					FPR3_ENST00000595991.1_Missense_Mutation_p.R315S	p.R315S	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN			2	1122	+			315						Missense_Mutation	SNP	ENST00000339223.4	37	c.943C>A	CCDS12841.1	.	.	.	.	.	.	.	.	.	.	.	9.235	1.036746	0.19669	.	.	ENSG00000187474	ENST00000339223	T	0.39056	1.1	2.34	-0.267	0.12938	.	0.422186	0.21077	N	0.080555	T	0.26304	0.0642	L	0.39898	1.24	0.22213	N	0.999285	P	0.39748	0.686	B	0.39935	0.314	T	0.08027	-1.0742	10	0.26408	T	0.33	.	2.8854	0.05660	0.4068:0.4264:0.0:0.1667	.	315	P25089	FPR3_HUMAN	S	315	ENSP00000341821:R315S	ENSP00000341821:R315S	R	+	1	0	FPR3	57019756	0.000000	0.05858	0.135000	0.22099	0.304000	0.27724	0.024000	0.13555	0.322000	0.23283	0.305000	0.20034	CGC		0.507	FPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466914.1	NM_002030		9	588	1	0	1.12685e-05	1.12685e-05	0.00119236	9	588				
CATSPER4	378807	broad.mit.edu	37	1	26524785	26524785	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:26524785C>A	ENST00000456354.2	+	6	754	c.687C>A	c.(685-687)tcC>tcA	p.S229S		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	229					calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sodium ion transport (GO:0006814)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)	p.S229S(1)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		AGGTTTTTTCCGTGTTTGGAG	0.493																																						ENST00000456354.2																			1	Substitution - coding silent(1)	p.S229S(1)	lung(1)	NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27						c.(685-687)tcC>tcA		cation channel, sperm associated 4							290.0	303.0	298.0					1																	26524785		2203	4300	6503	SO:0001819	synonymous_variant	378807				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity	g.chr1:26524785C>A	BN000273	CCDS30645.1	1p35.3	2011-07-05			ENSG00000188782	ENSG00000188782		"""Voltage-gated ion channels / Cation channels, sperm associated"""	23220	protein-coding gene	gene with protein product		609121				12932298, 17227845, 16382101	Standard	NM_198137		Approved		uc010oez.2	Q7RTX7	OTTHUMG00000003383	ENST00000456354.2:c.687C>A	1.37:g.26524785C>A							p.S229S	NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)	6	754	+		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)	229					A1A4W6|Q5VY71	Silent	SNP	ENST00000456354.2	37	c.687C>A	CCDS30645.1																																																																																				0.493	CATSPER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019849.2	NM_198137		12	1506	1	0	1.58986e-06	3.86212e-05	0.000199287	12	1506				
MVB12B	89853	broad.mit.edu	37	9	129154466	129154466	+	Silent	SNP	G	G	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr9:129154466G>A	ENST00000361171.3	+	5	612	c.531G>A	c.(529-531)acG>acA	p.T177T	MVB12B_ENST00000535766.1_Silent_p.T170T|MVB12B_ENST00000436593.3_Silent_p.T162T|MVB12B_ENST00000545391.1_Silent_p.T177T	NM_033446.2	NP_258257.1	Q9H7P6	MB12B_HUMAN	multivesicular body subunit 12B	177	MABP. {ECO:0000255|PROSITE- ProRule:PRU00831}.				protein transport (GO:0015031)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytosol (GO:0005829)|early endosome (GO:0005769)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	lipid binding (GO:0008289)										CTCAGTACACGTTTATTGGGT	0.512																																						ENST00000361171.3																			0											c.(529-531)acG>acA		multivesicular body subunit 12B							86.0	90.0	89.0					9																	129154466		2203	4300	6503	SO:0001819	synonymous_variant	89853							g.chr9:129154466G>A	AK000001	CCDS35142.1	9q34.12	2012-12-03	2012-12-03	2012-12-03	ENSG00000196814	ENSG00000196814			23368	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 28"", ""family with sequence similarity 125, member B"""	C9orf28, FAM125B		18005716, 20654576, 22232651	Standard	NM_033446		Approved	FLJ00001	uc004bqh.2	Q9H7P6	OTTHUMG00000020687	ENST00000361171.3:c.531G>A	9.37:g.129154466G>A						MVB12B_ENST00000535766.1_Silent_p.T170T|MVB12B_ENST00000545391.1_Silent_p.T177T|MVB12B_ENST00000436593.3_Silent_p.T162T	p.T177T	NM_033446.2	NP_258257.1					5	612	+								Q8N6S7	Silent	SNP	ENST00000361171.3	37	c.531G>A	CCDS35142.1																																																																																				0.512	MVB12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054110.1	XM_088525		10	503	0	0	0	0.00010058	0	10	503				
UGT1A1	54658	broad.mit.edu	37	2	234526363	234526363	+	Missense_Mutation	SNP	A	A	G			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:234526363A>G	ENST00000373450.4	+	1	73	c.10A>G	c.(10-12)Aca>Gca	p.T4A		NM_019076.4	NP_061949.3	P22309	UD11_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A1	0					acute-phase response (GO:0006953)|bilirubin conjugation (GO:0006789)|biphenyl catabolic process (GO:0070980)|cellular glucuronidation (GO:0052695)|cellular response to ethanol (GO:0071361)|cellular response to glucocorticoid stimulus (GO:0071385)|digestion (GO:0007586)|drug metabolic process (GO:0017144)|estrogen metabolic process (GO:0008210)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|heme catabolic process (GO:0042167)|heterocycle metabolic process (GO:0046483)|liver development (GO:0001889)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of steroid metabolic process (GO:0045939)|organ regeneration (GO:0031100)|porphyrin-containing compound metabolic process (GO:0006778)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	cytochrome complex (GO:0070069)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|steroid binding (GO:0005496)	p.T4A(3)		breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Acetaminophen(DB00316)|Adenine(DB00173)|Atorvastatin(DB01076)|Axitinib(DB06626)|Diclofenac(DB00586)|Dolutegravir(DB08930)|Eltrombopag(DB06210)|Erlotinib(DB00530)|Estradiol(DB00783)|Etoposide(DB00773)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indacaterol(DB05039)|Indomethacin(DB00328)|Irinotecan(DB00762)|Losartan(DB00678)|Lovastatin(DB00227)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naltrexone(DB00704)|Naproxen(DB00788)|Nilotinib(DB04868)|Pazopanib(DB06589)|Propofol(DB00818)|Raltegravir(DB06817)|Regorafenib(DB08896)|Rifampicin(DB01045)|Simvastatin(DB00641)|Sorafenib(DB00398)|Suprofen(DB00870)|Testosterone Propionate(DB01420)	CATGGCTCGCACAGGGTGGAC	0.562																																						ENST00000373450.4																			3	Substitution - Missense(3)	p.T4A(3)	prostate(1)|lung(1)|kidney(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)	30						c.(10-12)Aca>Gca									61.0	53.0	56.0					2																	234526363		2203	4300	6503	SO:0001583	missense	0							g.chr2:234526363A>G	M57899	CCDS2510.1	2q37.1	2014-09-17	2005-07-20		ENSG00000242366	ENSG00000242366	2.4.1.17	"""UDP glucuronosyltransferases"""	12530	other	complex locus constituent		191740	"""UDP glycosyltransferase 1 family, polypeptide A1"""	UGT1, GNT1		9295054, 9535849	Standard	NM_000463		Approved	UGT1A		P22309	OTTHUMG00000059117	ENST00000373450.4:c.10A>G	2.37:g.234526363A>G	ENSP00000362549:p.Thr4Ala						p.T4A	NM_019076.4	NP_061949.3				Epithelial(121;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008)	1	73	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)						A6NJC3|B8K286	Missense_Mutation	SNP	ENST00000373450.4	37	c.10A>G	CCDS33402.1	.	.	.	.	.	.	.	.	.	.	A	1.349	-0.591910	0.03799	.	.	ENSG00000242366	ENST00000373450	T	0.57273	0.41	3.96	-1.46	0.08800	.	.	.	.	.	T	0.20577	0.0495	N	0.03115	-0.41	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.27331	-1.0077	9	0.06891	T	0.86	.	5.6018	0.17357	0.3817:0.1909:0.4274:0.0	.	4;4	Q5DSZ6;Q9HAW9	.;UD18_HUMAN	A	4	ENSP00000362549:T4A	ENSP00000362549:T4A	T	+	1	0	UGT1A8	234191102	0.000000	0.05858	0.003000	0.11579	0.000000	0.00434	0.041000	0.13927	-0.096000	0.12329	-1.318000	0.01297	ACA		0.562	UGT1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130994.1			5	378	0	0	0	2.17888e-05	0	5	378				
SPCS1	28972	broad.mit.edu	37	3	52741760	52741760	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:52741760C>A	ENST00000602728.1	+	4	410	c.241C>A	c.(241-243)Caa>Aaa	p.Q81K	GLT8D1_ENST00000266014.5_5'Flank|GLT8D1_ENST00000407584.3_5'Flank|GLT8D1_ENST00000491606.1_5'Flank|SPCS1_ENST00000423431.1_Missense_Mutation_p.Q59K|GLT8D1_ENST00000478968.2_5'Flank|SPCS1_ENST00000233025.7_Missense_Mutation_p.Q148K			Q9Y6A9	SPCS1_HUMAN	signal peptidase complex subunit 1 homolog (S. cerevisiae)	81					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)|signal peptide processing (GO:0006465)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|signal peptidase complex (GO:0005787)	peptidase activity (GO:0008233)			kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	6				BRCA - Breast invasive adenocarcinoma(193;6.51e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)|OV - Ovarian serous cystadenocarcinoma(275;0.0469)		GTTACCTGTTCAAGAATCAAG	0.413																																						ENST00000233025.7																			0				kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	6						c.(442-444)Caa>Aaa		signal peptidase complex subunit 1 homolog (S. cerevisiae)							123.0	126.0	125.0					3																	52741760		2203	4300	6503	SO:0001583	missense	28972				energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	integral to endoplasmic reticulum membrane|microsome|signal peptidase complex	peptidase activity	g.chr3:52741760C>A	AF092138	CCDS33769.2	3p21.31	2005-01-05			ENSG00000114902	ENSG00000114902			23401	protein-coding gene	gene with protein product		610358				8632014	Standard	NM_014041		Approved	SPC12, HSPC033, YJR010C-A, SPC1	uc011bei.2	Q9Y6A9	OTTHUMG00000154930	ENST00000602728.1:c.241C>A	3.37:g.52741760C>A	ENSP00000473265:p.Gln81Lys					SPCS1_ENST00000602728.1_Missense_Mutation_p.Q81K|SPCS1_ENST00000423431.1_Missense_Mutation_p.Q59K	p.Q148K	NM_014041.3	NP_054760.3	Q9Y6A9	SPCS1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.51e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)|OV - Ovarian serous cystadenocarcinoma(275;0.0469)	4	852	+			148					B3KNF8|Q9BVW1	Missense_Mutation	SNP	ENST00000602728.1	37	c.442C>A		.	.	.	.	.	.	.	.	.	.	C	21.5	4.152679	0.78001	.	.	ENSG00000114902	ENST00000423431;ENST00000233025	.	.	.	5.57	5.57	0.84162	.	0.311639	0.35555	N	0.003130	T	0.43590	0.1254	N	0.24115	0.695	0.51012	D	0.9999	P	0.43542	0.81	B	0.40741	0.339	T	0.27839	-1.0062	9	0.29301	T	0.29	-17.6896	19.5486	0.95309	0.0:1.0:0.0:0.0	.	148	Q9Y6A9	SPCS1_HUMAN	K	59;148	.	ENSP00000233025:Q148K	Q	+	1	0	SPCS1	52716800	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.510000	0.73729	2.609000	0.88269	0.591000	0.81541	CAA		0.413	SPCS1-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467759.1	NM_014041		10	776	1	0	0.00010058	0.00010058	0.0072096	10	776				
TRIP10	9322	broad.mit.edu	37	19	6750327	6750327	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:6750327C>A	ENST00000313244.9	+	13	1455	c.1420C>A	c.(1420-1422)Cga>Aga	p.R474R	TRIP10_ENST00000600428.1_Silent_p.R310R|CTD-3128G10.6_ENST00000594056.1_RNA|TRIP10_ENST00000596758.1_Silent_p.R418R|TRIP10_ENST00000313285.8_Silent_p.R418R			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	474	Interaction with CDC42.|Interaction with PDE6G. {ECO:0000250}.|Required for interaction with FASLG and localization to lysosomes.				actin cytoskeleton organization (GO:0030036)|cell communication (GO:0007154)|endocytosis (GO:0006897)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)	p.R418G(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						AGCTGAAAGTCGAGTCCTTAG	0.667																																						ENST00000600428.1																			1	Substitution - Missense(1)	p.R418G(1)	breast(1)	NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						c.(928-930)Cga>Aga		thyroid hormone receptor interactor 10							55.0	64.0	61.0					19																	6750327		2203	4300	6503	SO:0001819	synonymous_variant	9322				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding	g.chr19:6750327C>A	AB072596	CCDS12172.1, CCDS74271.1, CCDS74272.1	19p13.3	2008-02-05			ENSG00000125733	ENSG00000125733			12304	protein-coding gene	gene with protein product	"""Cdc42-interacting protein"""	604504	"""salt tolerator"""	STOT		7776974, 9210375, 11294612	Standard	XM_005259683		Approved	STP, HSTP, CIP4	uc002mfr.3	Q15642	OTTHUMG00000150255	ENST00000313244.9:c.1420C>A	19.37:g.6750327C>A						TRIP10_ENST00000313244.9_Silent_p.R474R|CTD-3128G10.6_ENST00000594056.1_RNA|TRIP10_ENST00000313285.8_Silent_p.R418R|TRIP10_ENST00000596758.1_Silent_p.R418R	p.R310R			Q15642	CIP4_HUMAN			12	1574	+			474	L -> P (in Ref. 2; AAK77492).		Interaction with CDC42.|Interaction with PDE6G (By similarity).		B2R8A6|B7WP22|D6W645|O15184|Q53G22|Q5TZN1|Q6FI24|Q8NFL1|Q8TCY1|Q8TDX3|Q96RJ1	Silent	SNP	ENST00000313244.9	37	c.928C>A																																																																																					0.667	TRIP10-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000317129.2			7	552	1	0	0.000157383	0.000157383	0.00973904	7	552				
LY86	9450	broad.mit.edu	37	6	6625213	6625213	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr6:6625213C>A	ENST00000379953.2	+	3	543	c.191C>A	c.(190-192)tCa>tAa	p.S64*	LY86-AS1_ENST00000429345.1_RNA|LY86-AS1_ENST00000606044.1_RNA|LY86_ENST00000230568.4_Nonsense_Mutation_p.S64*|LY86-AS1_ENST00000435641.1_RNA|LY86-AS1_ENST00000607278.1_RNA			O95711	LY86_HUMAN	lymphocyte antigen 86	64					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)				large_intestine(2)|lung(6)	8	Ovarian(93;0.0377)					CAATTAAAATCAAATATCAAC	0.313																																						ENST00000379953.2																			0				large_intestine(2)|lung(6)	8						c.(190-192)tCa>tAa		lymphocyte antigen 86							66.0	62.0	64.0					6																	6625213		2189	4293	6482	SO:0001587	stop_gained	9450				apoptosis|cell proliferation|humoral immune response|inflammatory response|innate immune response	extracellular space|plasma membrane		g.chr6:6625213C>A	AF057178	CCDS4498.1	6p24.3	2010-07-08			ENSG00000112799	ENSG00000112799			16837	protein-coding gene	gene with protein product		605241				9763566	Standard	NM_004271		Approved	MD-1, dJ80N2.1	uc003mwy.1	O95711	OTTHUMG00000014190	ENST00000379953.2:c.191C>A	6.37:g.6625213C>A	ENSP00000369286:p.Ser64*					LY86_ENST00000230568.4_Nonsense_Mutation_p.S64*	p.S64*			O95711	LY86_HUMAN			3	543	+	Ovarian(93;0.0377)		64					Q9UQC4	Nonsense_Mutation	SNP	ENST00000379953.2	37	c.191C>A	CCDS4498.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.432933	0.62844	.	.	ENSG00000112799	ENST00000379953;ENST00000230568	.	.	.	5.26	3.22	0.36961	.	1.944890	0.02311	N	0.072065	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	4.3632	12.8308	0.57744	0.3071:0.6929:0.0:0.0	.	.	.	.	X	64	.	ENSP00000230568:S64X	S	+	2	0	LY86	6570212	0.001000	0.12720	0.017000	0.16124	0.635000	0.38103	0.857000	0.27831	1.177000	0.42855	0.655000	0.94253	TCA		0.313	LY86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039762.2			7	194	1	0	0.000157383	0.000157383	0.00973904	7	194				
CEP120	153241	broad.mit.edu	37	5	122722255	122722255	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr5:122722255C>A	ENST00000306467.5	-	10	1841	c.1537G>T	c.(1537-1539)Gat>Tat	p.D513Y	CEP120_ENST00000306481.6_Missense_Mutation_p.D487Y|CEP120_ENST00000328236.5_Missense_Mutation_p.D513Y			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	513					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)|regulation of protein localization (GO:0032880)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						GTTGCAAAATCAAATGCACAG	0.348																																						ENST00000306467.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(1537-1539)Gat>Tat		centrosomal protein 120kDa							62.0	60.0	61.0					5																	122722255		2203	4300	6503	SO:0001583	missense	153241					centrosome		g.chr5:122722255C>A	AK095646	CCDS4134.2, CCDS54890.1	5q23.2	2014-02-20	2008-08-14	2008-08-14	ENSG00000168944	ENSG00000168944			26690	protein-coding gene	gene with protein product		613446	"""coiled-coil domain containing 100"""	CCDC100		17920017	Standard	NM_153223		Approved	FLJ36090	uc003ktk.3	Q8N960	OTTHUMG00000128922	ENST00000306467.5:c.1537G>T	5.37:g.122722255C>A	ENSP00000303058:p.Asp513Tyr					CEP120_ENST00000306481.6_Missense_Mutation_p.D487Y|CEP120_ENST00000328236.5_Missense_Mutation_p.D513Y	p.D513Y			Q8N960	CE120_HUMAN			10	1841	-			513					Q6AI52|Q6AW89|Q8IWB5|Q8N9Y0|Q8NDE8	Missense_Mutation	SNP	ENST00000306467.5	37	c.1537G>T	CCDS4134.2	.	.	.	.	.	.	.	.	.	.	C	24.4	4.530289	0.85706	.	.	ENSG00000168944	ENST00000306467;ENST00000328236;ENST00000306481;ENST00000508442	T;T;T;T	0.51574	2.03;2.03;2.03;0.7	5.97	5.97	0.96955	.	0.102761	0.64402	D	0.000005	T	0.65595	0.2706	M	0.68952	2.095	0.80722	D	1	D	0.76494	0.999	P	0.59221	0.854	T	0.63545	-0.6613	10	0.49607	T	0.09	-25.1905	20.0428	0.97598	0.0:1.0:0.0:0.0	.	513	Q8N960	CE120_HUMAN	Y	513;513;487;487	ENSP00000303058:D513Y;ENSP00000327504:D513Y;ENSP00000307419:D487Y;ENSP00000421620:D487Y	ENSP00000303058:D513Y	D	-	1	0	CEP120	122750154	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.756000	0.62205	2.833000	0.97629	0.585000	0.79938	GAT		0.348	CEP120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250899.2	NM_153223		11	660	1	0	5.50884e-06	0.00010058	0.000617672	11	660				
MST1L	11223	broad.mit.edu	37	1	17083808	17083808	+	RNA	SNP	G	G	A	rs140260478	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:17083808G>A	ENST00000455405.2	-	0	780							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)										GCGACCTTGTGCATACTCGGT	0.562													.|||	293	0.0585064	0.0802	0.0648	5008	,	,		26767	0.0357		0.0477	False		,,,				2504	0.0593					ENST00000455405.2																			0																																																			0							g.chr1:17083808G>A	U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17083808G>A														0	780	-								B7WPB1|Q13209	RNA	SNP	ENST00000455405.2	37																																																																																						0.562	MST1L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400328.1	NM_001271733		9	50	0	0	0	0.000132079	0	9	50				
NOS3	4846	broad.mit.edu	37	7	150704202	150704202	+	Missense_Mutation	SNP	C	C	A	rs148623908		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr7:150704202C>A	ENST00000297494.3	+	17	2307	c.1950C>A	c.(1948-1950)ttC>ttA	p.F650L	NOS3_ENST00000461406.1_Missense_Mutation_p.F444L	NM_000603.4	NP_000594.2	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCTGTGTGTTCGGGCTCGGCT	0.677																																						ENST00000297494.3																			0				NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(1948-1950)ttC>ttA		nitric oxide synthase 3 (endothelial cell)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)						103.0	102.0	102.0					7																	150704202		2203	4300	6503	SO:0001583	missense	4846				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr7:150704202C>A		CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"""endothelial nitric oxide synthase"""	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000297494.3:c.1950C>A	7.37:g.150704202C>A	ENSP00000297494:p.Phe650Leu					NOS3_ENST00000461406.1_Missense_Mutation_p.F444L	p.F650L	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	17	2307	+	all_neural(206;0.219)		650			Flavodoxin-like.		Q495E5	Missense_Mutation	SNP	ENST00000297494.3	37	c.1950C>A	CCDS5912.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.163531	0.57476	.	.	ENSG00000164867	ENST00000297494;ENST00000461406	T;T	0.60299	0.2;0.2	4.92	-0.875	0.10628	Flavodoxin/nitric oxide synthase (2);	0.000000	0.64402	D	0.000005	T	0.60196	0.2250	L	0.42529	1.33	0.80722	D	1	D;P	0.53462	0.96;0.837	P;P	0.62813	0.907;0.727	T	0.58769	-0.7578	10	0.66056	D	0.02	-15.7684	8.4022	0.32592	0.0:0.3284:0.0:0.6716	.	444;650	E7ESA7;P29474	.;NOS3_HUMAN	L	650;444	ENSP00000297494:F650L;ENSP00000417143:F444L	ENSP00000297494:F650L	F	+	3	2	NOS3	150335135	0.725000	0.28048	0.998000	0.56505	0.982000	0.71751	-0.144000	0.10280	-0.022000	0.13986	0.499000	0.49734	TTC		0.677	NOS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350750.2	NM_000603		10	962	1	0	3.09899e-07	1.12685e-05	4.20825e-05	10	962				
ANK3	288	broad.mit.edu	37	10	61828647	61828647	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr10:61828647C>A	ENST00000280772.2	-	37	12183	c.11992G>T	c.(11992-11994)Gaa>Taa	p.E3998*	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3998					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTAAAATATTCAATGGAATGT	0.453																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(11992-11994)Gaa>Taa		ankyrin 3, node of Ranvier (ankyrin G)							108.0	105.0	106.0					10																	61828647		2203	4300	6503	SO:0001587	stop_gained	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61828647C>A	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.11992G>T	10.37:g.61828647C>A	ENSP00000280772:p.Glu3998*					ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron	p.E3998*	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			37	12183	-			3998					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Nonsense_Mutation	SNP	ENST00000280772.2	37	c.11992G>T	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	C	54	21.771729	0.99943	.	.	ENSG00000151150	ENST00000280772	.	.	.	5.72	5.72	0.89469	.	0.000000	0.43416	D	0.000568	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.8946	0.96949	0.0:1.0:0.0:0.0	.	.	.	.	X	3998	.	ENSP00000280772:E3998X	E	-	1	0	ANK3	61498653	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.864000	0.62990	2.711000	0.92665	0.655000	0.94253	GAA		0.453	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		10	770	1	0	0.000151284	0.000151284	0.00973904	10	770				
NGF	4803	broad.mit.edu	37	1	115829233	115829233	+	Missense_Mutation	SNP	G	G	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:115829233G>A	ENST00000369512.2	-	3	352	c.184C>T	c.(184-186)Cgc>Tgc	p.R62C	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	62					activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|adult locomotory behavior (GO:0008344)|apoptotic signaling pathway (GO:0097190)|circadian rhythm (GO:0007623)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|memory (GO:0007613)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|nerve growth factor processing (GO:0032455)|neuron apoptotic process (GO:0051402)|neuron projection morphogenesis (GO:0048812)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axon extension (GO:0045773)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neurotrophin TRK receptor signaling pathway (GO:0051388)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|Ras protein signal transduction (GO:0007265)|regulation of axonogenesis (GO:0050770)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of neurotransmitter secretion (GO:0046928)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to peptide hormone (GO:0043434)|response to radiation (GO:0009314)|sensory perception of pain (GO:0019233)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)	nerve growth factor receptor binding (GO:0005163)|receptor signaling protein activity (GO:0005057)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	CCCGCCACGCGTGCAGCTATC	0.632																																						ENST00000369512.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						c.(184-186)Cgc>Tgc		nerve growth factor (beta polypeptide)	Clenbuterol(DB01407)						48.0	48.0	48.0					1																	115829233		2203	4300	6503	SO:0001583	missense	4803				activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding	g.chr1:115829233G>A		CCDS882.1	1p13.1	2014-09-17	2008-02-07	2008-02-07	ENSG00000134259	ENSG00000134259		"""Endogenous ligands"""	7808	protein-coding gene	gene with protein product		162030		NGFB			Standard	XM_006710663		Approved		uc001efu.1	P01138	OTTHUMG00000011880	ENST00000369512.2:c.184C>T	1.37:g.115829233G>A	ENSP00000358525:p.Arg62Cys					RP4-663N10.1_ENST00000425449.1_RNA	p.R62C	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	3	352	-	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)	62					A1A4E5|Q6FHA0|Q96P60|Q9P2Q8|Q9UKL8	Missense_Mutation	SNP	ENST00000369512.2	37	c.184C>T	CCDS882.1	.	.	.	.	.	.	.	.	.	.	G	12.46	1.943321	0.34283	.	.	ENSG00000134259	ENST00000369512	T	0.63417	-0.04	5.06	-0.0542	0.13815	.	0.100578	0.42548	D	0.000686	T	0.58206	0.2106	M	0.77486	2.375	0.09310	N	0.999997	D	0.76494	0.999	P	0.51806	0.68	T	0.63184	-0.6694	10	0.87932	D	0	-22.5746	14.8749	0.70488	0.0:0.0:0.6922:0.3078	.	62	P01138	NGF_HUMAN	C	62	ENSP00000358525:R62C	ENSP00000358525:R62C	R	-	1	0	NGF	115630756	0.066000	0.20996	0.543000	0.28128	0.207000	0.24258	1.510000	0.35790	0.104000	0.17725	0.467000	0.42956	CGC		0.632	NGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032832.1	NM_002506		6	220	0	0	0	3.59834e-05	0	6	220				
SLIT2	9353	broad.mit.edu	37	4	20541152	20541152	+	Missense_Mutation	SNP	C	C	A	rs553808717		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr4:20541152C>A	ENST00000504154.1	+	19	2173	c.1921C>A	c.(1921-1923)Caa>Aaa	p.Q641K	SLIT2_ENST00000503823.1_Missense_Mutation_p.Q633K|SLIT2_ENST00000273739.5_Missense_Mutation_p.Q645K|SLIT2_ENST00000503837.1_Missense_Mutation_p.Q637K	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	641					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)	p.Q641K(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GTATGATAATCAAATTACTAC	0.378													C|||	1	0.000199681	0.0008	0.0	5008	,	,		14976	0.0		0.0	False		,,,				2504	0.0					ENST00000504154.1																			1	Substitution - Missense(1)	p.Q641K(1)	kidney(1)	NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						c.(1921-1923)Caa>Aaa		slit homolog 2 (Drosophila)							136.0	129.0	131.0					4																	20541152		2203	4300	6503	SO:0001583	missense	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20541152C>A	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.1921C>A	4.37:g.20541152C>A	ENSP00000422591:p.Gln641Lys					SLIT2_ENST00000503837.1_Missense_Mutation_p.Q637K|SLIT2_ENST00000503823.1_Missense_Mutation_p.Q633K|SLIT2_ENST00000273739.5_Missense_Mutation_p.Q645K	p.Q641K	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN			19	2173	+			641					B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	c.1921C>A	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	C	17.38	3.376165	0.61735	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	T;T;T;T	0.54866	0.55;0.55;0.55;0.55	5.88	5.88	0.94601	.	0.050442	0.85682	D	0.000000	T	0.42404	0.1201	L	0.38692	1.165	0.58432	D	0.999999	B;P	0.39920	0.008;0.695	B;B	0.32724	0.016;0.151	T	0.26916	-1.0089	10	0.16420	T	0.52	.	20.2187	0.98312	0.0:1.0:0.0:0.0	.	633;641	O94813-3;O94813	.;SLIT2_HUMAN	K	633;641;645;637;637	ENSP00000427548:Q633K;ENSP00000422591:Q641K;ENSP00000273739:Q645K;ENSP00000422261:Q637K	ENSP00000273739:Q645K	Q	+	1	0	SLIT2	20150250	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.036000	0.70948	2.780000	0.95670	0.655000	0.94253	CAA		0.378	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			12	782	1	0	6.40141e-05	6.40141e-05	0.00496729	12	782				
MTFR1L	56181	broad.mit.edu	37	1	26156118	26156118	+	Silent	SNP	C	C	A	rs199554729		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:26156118C>A	ENST00000374301.3	+	6	878	c.570C>A	c.(568-570)acC>acA	p.T190T	MTFR1L_ENST00000524618.1_Silent_p.T93T|MTFR1L_ENST00000374307.5_Silent_p.T178T|MTFR1L_ENST00000374303.2_Silent_p.T190T|MTFR1L_ENST00000526894.1_Intron|RP1-317E23.7_ENST00000606617.1_RNA|MTFR1L_ENST00000374300.3_Silent_p.T190T|MTFR1L_ENST00000474295.1_Missense_Mutation_p.P154Q|MTFR1L_ENST00000469815.1_3'UTR|MTFR1L_ENST00000466284.1_Missense_Mutation_p.P154Q	NM_019557.5	NP_062457.3	Q9H019	MFR1L_HUMAN	mitochondrial fission regulator 1-like	190																	GTGACATCACCGAGGAGACAG	0.478																																						ENST00000466284.1																			0											c.(460-462)cCg>cAg		mitochondrial fission regulator 1-like							210.0	188.0	195.0					1																	26156118		1918	4136	6054	SO:0001819	synonymous_variant	56181							g.chr1:26156118C>A		CCDS41284.1, CCDS44089.1	1p36.11	2012-11-30	2012-11-29	2012-11-29	ENSG00000117640	ENSG00000117640			28836	protein-coding gene	gene with protein product			"""family with sequence similarity 54, member B"""	FAM54B		8619474, 9110174	Standard	NM_019557		Approved		uc001bkq.4	Q9H019	OTTHUMG00000007377	ENST00000374301.3:c.570C>A	1.37:g.26156118C>A						MTFR1L_ENST00000374300.3_Silent_p.T190T|MTFR1L_ENST00000474295.1_Missense_Mutation_p.P154Q|MTFR1L_ENST00000374307.5_Silent_p.T178T|MTFR1L_ENST00000469815.1_3'UTR|MTFR1L_ENST00000374301.3_Silent_p.T190T|MTFR1L_ENST00000526894.1_Intron|MTFR1L_ENST00000524618.1_Silent_p.T93T|MTFR1L_ENST00000374303.2_Silent_p.T190T	p.P154Q							5	2043	+								A6NCB4|B7WNV5|D3DPJ4|Q63HP1|Q7Z2S7|Q9NUI7	Missense_Mutation	SNP	ENST00000374301.3	37	c.461C>A	CCDS41284.1	.	.	.	.	.	.	.	.	.	.	C	14.50	2.555163	0.45487	.	.	ENSG00000117640	ENST00000474295;ENST00000466284	T;T	0.41758	0.99;0.99	6.17	-5.74	0.02391	.	.	.	.	.	T	0.17152	0.0412	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.24440	-1.0160	8	0.11794	T	0.64	0.2996	4.451	0.11621	0.1308:0.3155:0.0696:0.4841	.	154	Q9H019-2	.	Q	154	ENSP00000435461:P154Q;ENSP00000434751:P154Q	ENSP00000434751:P154Q	P	+	2	0	FAM54B	26028705	0.002000	0.14202	0.664000	0.29753	0.997000	0.91878	-1.661000	0.01972	-0.841000	0.04200	0.655000	0.94253	CCG		0.478	MTFR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019319.1	NM_019557		8	751	1	0	0.000157383	0.000157383	0.00973904	8	751				
TPTE2P2	644623	broad.mit.edu	37	13	52864001	52864001	+	RNA	SNP	A	A	G	rs199631015		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr13:52864001A>G	ENST00000451298.1	-	0	168																											GAAAAAATAAAGCAATAGCTA	0.313																																						ENST00000451298.1																			0																																																			0							g.chr13:52864001A>G																													13.37:g.52864001A>G						RP11-64P12.8_ENST00000606031.1_RNA								0	168	-									RNA	SNP	ENST00000451298.1	37																																																																																						0.313	RP11-248G5.8-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000471093.1			5	222	0	0	0	6.40141e-05	0	5	222				
OR6C75	390323	broad.mit.edu	37	12	55759411	55759411	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr12:55759411G>T	ENST00000343399.3	+	1	517	c.517G>T	c.(517-519)Gat>Tat	p.D173Y		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	173						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						CAATGTAATTGATCATTTTAT	0.423																																						ENST00000343399.3																			0				endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						c.(517-519)Gat>Tat		olfactory receptor, family 6, subfamily C, member 75							168.0	144.0	152.0					12																	55759411		2203	4300	6503	SO:0001583	missense	390323				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55759411G>T		CCDS31820.1	12q13.2	2013-09-23			ENSG00000187857	ENSG00000187857		"""GPCR / Class A : Olfactory receptors"""	31304	protein-coding gene	gene with protein product							Standard	NM_001005497		Approved		uc010spk.2	A6NL08	OTTHUMG00000169886	ENST00000343399.3:c.517G>T	12.37:g.55759411G>T	ENSP00000368987:p.Asp173Tyr						p.D173Y	NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN			1	517	+			173						Missense_Mutation	SNP	ENST00000343399.3	37	c.517G>T	CCDS31820.1	.	.	.	.	.	.	.	.	.	.	g	16.20	3.056039	0.55325	.	.	ENSG00000187857	ENST00000343399	T	0.00193	8.58	5.22	4.31	0.51392	GPCR, rhodopsin-like superfamily (1);	0.129958	0.33854	N	0.004486	T	0.00552	0.0018	M	0.85462	2.755	0.32741	N	0.507645	D	0.89917	1.0	D	0.79108	0.992	T	0.43702	-0.9375	10	0.87932	D	0	.	10.4759	0.44665	0.1511:0.0:0.8489:0.0	.	173	A6NL08	O6C75_HUMAN	Y	173	ENSP00000368987:D173Y	ENSP00000368987:D173Y	D	+	1	0	OR6C75	54045678	0.000000	0.05858	1.000000	0.80357	0.971000	0.66376	-0.165000	0.09968	2.725000	0.93324	0.632000	0.83419	GAT		0.423	OR6C75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406418.1			10	545	1	0	5.50884e-06	0.00010058	0.000617672	10	545				
PSD3	23362	broad.mit.edu	37	8	18393349	18393349	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr8:18393349C>A	ENST00000327040.8	-	16	3150	c.3048G>T	c.(3046-3048)ccG>ccT	p.P1016P	PSD3_ENST00000286485.8_Silent_p.P482P|PSD3_ENST00000523619.1_Silent_p.P951P|PSD3_ENST00000428502.2_Silent_p.P345P|PSD3_ENST00000440756.2_Silent_p.P1018P	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	1017					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		GAGAAGTATCCGGGTTCAGCG	0.483																																						ENST00000440756.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(3052-3054)ccG>ccT		pleckstrin and Sec7 domain containing 3							199.0	162.0	174.0					8																	18393349		2203	4300	6503	SO:0001819	synonymous_variant	23362				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	g.chr8:18393349C>A	AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"""Pleckstrin homology (PH) domain containing"""	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.3048G>T	8.37:g.18393349C>A						PSD3_ENST00000523619.1_Silent_p.P951P|PSD3_ENST00000428502.2_Silent_p.P345P|PSD3_ENST00000327040.8_Silent_p.P1016P|PSD3_ENST00000286485.8_Silent_p.P482P	p.P1018P			Q9NYI0	PSD3_HUMAN		Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)	16	3156	-			1017					A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Silent	SNP	ENST00000327040.8	37	c.3054G>T	CCDS43720.1																																																																																				0.483	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1	NM_015310		6	563	1	0	1.06961e-07	0.000157383	1.49397e-05	6	563				
NUGGC	389643	broad.mit.edu	37	8	27927120	27927120	+	Missense_Mutation	SNP	C	C	G			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr8:27927120C>G	ENST00000413272.2	-	4	340	c.198G>C	c.(196-198)caG>caC	p.Q66H	NUGGC_ENST00000341513.6_Missense_Mutation_p.Q66H	NM_001010906.1	NP_001010906.1	Q68CJ6	SLIP_HUMAN	nuclear GTPase, germinal center associated	66					cellular response to DNA damage stimulus (GO:0006974)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)										GAATAAGTTTCTGATAAGTGT	0.418																																						ENST00000413272.2																			0											c.(196-198)caG>caC		nuclear GTPase, germinal center associated							141.0	138.0	139.0					8																	27927120		1922	4138	6060	SO:0001583	missense	389643							g.chr8:27927120C>G	AB075870	CCDS47833.1	8p21.1	2012-06-07	2012-06-07	2012-06-07	ENSG00000189233	ENSG00000189233			33550	protein-coding gene	gene with protein product	"""speckled-like pattern in the germinal center"""		"""chromosome 8 open reading frame 80"""	C8orf80		19734146	Standard	NM_001010906		Approved	HMFN0672, SLIP-GC	uc003xgm.4	Q68CJ6	OTTHUMG00000155970	ENST00000413272.2:c.198G>C	8.37:g.27927120C>G	ENSP00000408697:p.Gln66His					NUGGC_ENST00000341513.6_Missense_Mutation_p.Q66H	p.Q66H	NM_001010906.1	NP_001010906.1					4	340	-								Q6ZP73	Missense_Mutation	SNP	ENST00000413272.2	37	c.198G>C	CCDS47833.1	.	.	.	.	.	.	.	.	.	.	C	19.43	3.826699	0.71143	.	.	ENSG00000189233	ENST00000413272;ENST00000341513	T;T	0.17054	2.3;2.3	5.49	4.6	0.57074	.	0.000000	0.64402	D	0.000010	T	0.28366	0.0701	L	0.36672	1.1	0.35510	D	0.800545	D	0.89917	1.0	D	0.75484	0.986	T	0.13926	-1.0491	10	0.59425	D	0.04	-16.1764	9.5385	0.39237	0.0:0.9061:0.0:0.0939	.	66	Q68CJ6	SLIP_HUMAN	H	66	ENSP00000408697:Q66H;ENSP00000345031:Q66H	ENSP00000345031:Q66H	Q	-	3	2	C8orf80	27983039	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	1.713000	0.37951	2.731000	0.93534	0.650000	0.86243	CAG		0.418	NUGGC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000342494.1	NM_001010906		88	403	0	0	0	0.000147903	0	88	403				
ZNF443	10224	broad.mit.edu	37	19	12542230	12542230	+	Silent	SNP	C	C	T	rs533901012	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:12542230C>T	ENST00000301547.5	-	4	953	c.756G>A	c.(754-756)ccG>ccA	p.P252P	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	252					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						TACATTCATACGGTTTCTCCC	0.363													.|||	2	0.000399361	0.0008	0.0014	5008	,	,		23531	0.0		0.0	False		,,,				2504	0.0					ENST00000301547.5																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						c.(754-756)ccG>ccA		zinc finger protein 443							186.0	187.0	187.0					19																	12542230		2203	4300	6503	SO:0001819	synonymous_variant	10224				induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12542230C>T	AB011414	CCDS32918.1	19p13.13	2013-01-08			ENSG00000180855	ENSG00000180855		"""Zinc fingers, C2H2-type"", ""-"""	20878	protein-coding gene	gene with protein product		606697				9731181	Standard	NM_005815		Approved	ZK1	uc002mtu.3	Q9Y2A4	OTTHUMG00000156404	ENST00000301547.5:c.756G>A	19.37:g.12542230C>T						CTD-3105H18.16_ENST00000595562.1_Intron	p.P252P	NM_005815.4	NP_005806.2	Q9Y2A4	ZN443_HUMAN			4	953	-			252						Silent	SNP	ENST00000301547.5	37	c.756G>A	CCDS32918.1																																																																																				0.363	ZNF443-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344084.1	NM_005815		9	1649	0	0	0	8.12818e-05	0	9	1649				
RP11-156P1.2	0	broad.mit.edu	37	17	45126612	45126612	+	IGR	SNP	A	A	G			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr17:45126612A>G	ENST00000571841.1	+	0	889				LRRC37A17P_ENST00000570478.1_RNA|RP11-156P1.3_ENST00000575173.1_RNA																							ATTCATGAAGACGTTACAAGC	0.483																																						ENST00000575173.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr17:45126612A>G																													17.37:g.45126612A>G														0	418	-									RNA	SNP	ENST00000571841.1	37																																																																																						0.483	RP11-156P1.2-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000440447.1			10	645	0	0	0	6.40141e-05	0	10	645				
FAM179B	23116	broad.mit.edu	37	14	45475240	45475240	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr14:45475240C>A	ENST00000361577.3	+	5	2888	c.2674C>A	c.(2674-2676)Cag>Aag	p.Q892K	KLHL28_ENST00000553817.1_Intron|FAM179B_ENST00000361462.2_Missense_Mutation_p.Q892K|FAM179B_ENST00000382233.2_Missense_Mutation_p.Q892K	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	892										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						ACCTCCAGTTCAGCTTACACC	0.413																																						ENST00000361462.2																			0				endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						c.(2674-2676)Cag>Aag		family with sequence similarity 179, member B							85.0	86.0	86.0					14																	45475240		2203	4300	6503	SO:0001583	missense	23116						binding	g.chr14:45475240C>A	AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"""KIAA0423"""	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.2674C>A	14.37:g.45475240C>A	ENSP00000355045:p.Gln892Lys					FAM179B_ENST00000382233.2_Missense_Mutation_p.Q892K|FAM179B_ENST00000361577.3_Missense_Mutation_p.Q892K|KLHL28_ENST00000553817.1_Intron	p.Q892K			Q9Y4F4	F179B_HUMAN			5	2857	+			892					Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	37	c.2674C>A	CCDS9681.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.6|23.6	4.440826|4.440826	0.83993|0.83993	.|.	.|.	ENSG00000198718|ENSG00000198718	ENST00000557250|ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233	.|T;T;T	.|0.32515	.|2.71;2.7;1.45	5.39|5.39	4.49|4.49	0.54785|0.54785	.|Armadillo-type fold (1);	.|0.423728	.|0.22562	.|N	.|0.058445	T|T	0.36386|0.36386	0.0965|0.0965	L|L	0.29908|0.29908	0.895|0.895	0.31755|0.31755	N|N	0.63409|0.63409	.|D;D;D	.|0.62365	.|0.991;0.979;0.979	.|P;P;P	.|0.56563	.|0.725;0.801;0.801	T|T	0.35076|0.35076	-0.9803|-0.9803	5|10	.|0.23302	.|T	.|0.38	-4.6402|-4.6402	15.8279|15.8279	0.78727|0.78727	0.0:0.8634:0.1366:0.0|0.0:0.8634:0.1366:0.0	.|.	.|892;892;892	.|G3XAE9;Q9Y4F4;Q9Y4F4-2	.|.;F179B_HUMAN;.	L|K	83|892	.|ENSP00000355045:Q892K;ENSP00000354917:Q892K;ENSP00000371668:Q892K	.|ENSP00000354917:Q892K	F|Q	+|+	3|1	2|0	FAM179B|FAM179B	44544990|44544990	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	3.803000|3.803000	0.55560|0.55560	1.271000|1.271000	0.44313|0.44313	0.558000|0.558000	0.71614|0.71614	TTC|CAG		0.413	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	XM_113781		11	575	1	0	0.00010058	0.00010058	0.0072096	11	575				
ECT2	1894	broad.mit.edu	37	3	172473162	172473162	+	Missense_Mutation	SNP	A	A	C			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:172473162A>C	ENST00000392692.3	+	3	384	c.208A>C	c.(208-210)Aag>Cag	p.K70Q	ECT2_ENST00000232458.5_Missense_Mutation_p.K70Q|ECT2_ENST00000540509.1_Missense_Mutation_p.K70Q|ECT2_ENST00000427830.1_Missense_Mutation_p.K70Q|ECT2_ENST00000417960.1_Missense_Mutation_p.K69Q|ECT2_ENST00000441497.2_Missense_Mutation_p.K70Q	NM_001258315.1	NP_001245244.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming 2	70					activation of protein kinase activity (GO:0032147)|activation of Rac GTPase activity (GO:0032863)|activation of Rho GTPase activity (GO:0032862)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular response to calcium ion (GO:0071277)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of Rho GTPase activity (GO:0032321)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|centralspindlin complex (GO:0097149)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			AAAAGCCTTAAAGGTACGGAG	0.313																																						ENST00000417960.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(205-207)Aag>Cag		epithelial cell transforming sequence 2 oncogene							97.0	104.0	101.0					3																	172473162		2203	4298	6501	SO:0001583	missense	1894				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr3:172473162A>C	AA206473	CCDS3220.1, CCDS58860.1	3q26.1-q26.2	2014-03-11	2014-03-11		ENSG00000114346	ENSG00000114346		"""Rho guanine nucleotide exchange factors"""	3155	protein-coding gene	gene with protein product		600586	"""epithelial cell transforming sequence 2 oncogene"""			8464478, 10579713	Standard	NM_018098		Approved	ARHGEF31	uc003fil.2	Q9H8V3	OTTHUMG00000156762	ENST00000392692.3:c.208A>C	3.37:g.172473162A>C	ENSP00000376457:p.Lys70Gln					ECT2_ENST00000232458.5_Missense_Mutation_p.K70Q|ECT2_ENST00000441497.2_Missense_Mutation_p.K70Q|ECT2_ENST00000427830.1_Missense_Mutation_p.K70Q|ECT2_ENST00000540509.1_Missense_Mutation_p.K70Q|ECT2_ENST00000392692.3_Missense_Mutation_p.K70Q	p.K69Q	NM_001258316.1	NP_001245245.1	Q9H8V3	ECT2_HUMAN	Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)		4	682	+	Ovarian(172;0.00197)|Breast(254;0.158)		70					Q0MT80|Q2M269|Q6U836|Q9NSV8|Q9NVW9	Missense_Mutation	SNP	ENST00000392692.3	37	c.205A>C	CCDS58860.1	.	.	.	.	.	.	.	.	.	.	A	5.267	0.234752	0.09969	.	.	ENSG00000114346	ENST00000232458;ENST00000392692;ENST00000427830;ENST00000417960;ENST00000428567;ENST00000426894;ENST00000366090;ENST00000415665;ENST00000438041;ENST00000441497;ENST00000540509	T;T;T;T;T;T;T;T;T;T;T	0.66099	-0.02;-0.19;-0.04;-0.02;0.97;0.93;0.87;1.01;0.87;-0.02;-0.19	5.58	3.14	0.36123	.	0.162995	0.56097	N	0.000021	T	0.31949	0.0813	N	0.11560	0.145	0.32649	N	0.51964	B;B;B;B	0.16166	0.005;0.015;0.001;0.016	B;B;B;B	0.20184	0.008;0.028;0.011;0.006	T	0.34576	-0.9823	10	0.02654	T	1	-6.7187	3.8864	0.09100	0.5385:0.1802:0.2813:0.0	.	70;70;70;69	Q9H8V3;Q9H8V3-3;G5E9L8;Q9H8V3-2	ECT2_HUMAN;.;.;.	Q	70;70;70;69;69;70;70;70;70;70;70	ENSP00000232458:K70Q;ENSP00000376457:K70Q;ENSP00000401910:K70Q;ENSP00000415876:K69Q;ENSP00000403501:K69Q;ENSP00000412331:K70Q;ENSP00000403446:K70Q;ENSP00000412028:K70Q;ENSP00000389108:K70Q;ENSP00000412259:K70Q;ENSP00000443160:K70Q	ENSP00000232458:K70Q	K	+	1	0	ECT2	173955856	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	1.277000	0.33167	0.384000	0.24942	0.402000	0.26972	AAG		0.313	ECT2-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345994.2	NM_018098		28	236	0	0	0	2.90539e-05	0	28	236				
TTN	7273	broad.mit.edu	37	2	179445134	179445134	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:179445134C>A	ENST00000591111.1	-	267	62273	c.62049G>T	c.(62047-62049)gtG>gtT	p.V20683V	RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.V13451V|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.V13384V|TTN_ENST00000460472.2_Silent_p.V13259V|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Silent_p.V22324V|TTN_ENST00000342992.6_Silent_p.V19756V|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	20683					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATATTTGTTCACATTTTCAC	0.363																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(66970-66972)gtG>gtT		titin							165.0	150.0	155.0					2																	179445134		1869	4096	5965	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179445134C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.62049G>T	2.37:g.179445134C>A						TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Silent_p.V13451V|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.V20683V|TTN_ENST00000460472.2_Silent_p.V13259V|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Silent_p.V13384V|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Silent_p.V19756V|TTN-AS1_ENST00000586707.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA	p.V22324V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		317	67196	-			20683			Fibronectin type-III 62.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.66972G>T																																																																																					0.363	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		18	781	1	0	9.7654e-05	9.7654e-05	0.0072096	18	781				
EEF1B2	1933	broad.mit.edu	37	2	207025366	207025366	+	Silent	SNP	G	G	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:207025366G>A	ENST00000392222.2	+	2	510	c.135G>A	c.(133-135)ccG>ccA	p.P45P	NDUFS1_ENST00000455934.2_5'Flank|NDUFS1_ENST00000423725.1_5'Flank|NDUFS1_ENST00000457011.1_5'Flank|SNORA41_ENST00000384675.1_RNA|SNORD51_ENST00000384320.2_RNA|EEF1B2_ENST00000392221.1_Silent_p.P45P|NDUFS1_ENST00000233190.6_5'Flank|EEF1B2_ENST00000236957.5_Silent_p.P45P|NDUFS1_ENST00000440274.1_5'Flank|NDUFS1_ENST00000449699.1_5'Flank|NDUFS1_ENST00000432169.1_5'Flank	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	45	GST C-terminal.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)	translation elongation factor activity (GO:0003746)	p.P45P(5)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						CCAGCCCACCGCCTGCCGACT	0.448																																						ENST00000392222.2																			5	Substitution - coding silent(5)	p.P45P(5)	kidney(2)|endometrium(2)|lung(1)	breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						c.(133-135)ccG>ccA		eukaryotic translation elongation factor 1 beta 2							109.0	99.0	102.0					2																	207025366		2203	4300	6503	SO:0001819	synonymous_variant	1933					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	g.chr2:207025366G>A	X60489	CCDS2367.1	2q33.3	2011-04-28			ENSG00000114942	ENSG00000114942			3208	protein-coding gene	gene with protein product		600655				8250921	Standard	NM_001959		Approved		uc002vbf.1	P24534	OTTHUMG00000132891	ENST00000392222.2:c.135G>A	2.37:g.207025366G>A						EEF1B2_ENST00000392221.1_Silent_p.P45P|EEF1B2_ENST00000236957.5_Silent_p.P45P	p.P45P	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN			2	510	+			45			GST C-terminal.		A8K795|Q6IBH9	Silent	SNP	ENST00000392222.2	37	c.135G>A	CCDS2367.1																																																																																				0.448	EEF1B2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336436.1	NM_001037663		9	561	0	0	0	3.86212e-05	0	9	561				
HHIPL2	79802	broad.mit.edu	37	1	222716940	222716940	+	Silent	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:222716940G>T	ENST00000343410.6	-	2	971	c.913C>A	c.(913-915)Cga>Aga	p.R305R		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	305					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		TCACTAATTCGGATCTTTTCT	0.453																																						ENST00000343410.6																			0				NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(913-915)Cga>Aga		HHIP-like 2							235.0	262.0	253.0					1																	222716940		2203	4300	6503	SO:0001819	synonymous_variant	79802				carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	g.chr1:222716940G>T	BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"""KIAA1822-like"""	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.913C>A	1.37:g.222716940G>T							p.R305R	NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN		GBM - Glioblastoma multiforme(131;0.0185)	2	971	-			305					Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Silent	SNP	ENST00000343410.6	37	c.913C>A	CCDS1530.2																																																																																				0.453	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2	NM_024746		12	1456	1	0	0.000157383	0.000157383	0.00973904	12	1456				
LOC645752	645752	broad.mit.edu	37	15	78211512	78211512	+	lincRNA	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr15:78211512C>A	ENST00000565869.1	+	0	111				RN7SL214P_ENST00000487317.2_RNA|RP11-114H24.2_ENST00000567226.1_RNA																							GTTCCTTGCTCAGGACACTCA	0.557																																						ENST00000565869.1																			0																																																			0							g.chr15:78211512C>A																													15.37:g.78211512C>A						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.557	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			10	689	1	0	1.58986e-06	3.86212e-05	0.000199287	10	689				
ARHGAP35	2909	broad.mit.edu	37	19	47424922	47424922	+	Missense_Mutation	SNP	G	G	T	rs371941437		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:47424922G>T	ENST00000404338.3	+	1	2990	c.2990G>T	c.(2989-2991)cGa>cTa	p.R997L		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	997					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)	p.R997Q(1)									AGCCTGTTTCGAGAAGACACA	0.478																																						ENST00000404338.3																			1	Substitution - Missense(1)	p.R997Q(1)	large_intestine(1)								c.(2989-2991)cGa>cTa		Rho GTPase activating protein 35							64.0	63.0	63.0					19																	47424922		1937	4149	6086	SO:0001583	missense	2909				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	g.chr19:47424922G>T	M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.2990G>T	19.37:g.47424922G>T	ENSP00000385720:p.Arg997Leu						p.R997L	NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN			1	2990	+			997					A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	ENST00000404338.3	37	c.2990G>T	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.889137	0.52014	.	.	ENSG00000160007	ENST00000317082;ENST00000404338	T	0.08370	3.1	5.76	5.76	0.90799	.	0.061993	0.64402	D	0.000005	T	0.11239	0.0274	L	0.43152	1.355	0.43678	D	0.996117	P	0.41624	0.757	P	0.47299	0.543	T	0.17531	-1.0366	10	0.11794	T	0.64	-7.3842	12.1257	0.53915	0.0796:0.0:0.9204:0.0	.	997	Q9NRY4-2	.	L	997	ENSP00000385720:R997L	ENSP00000324820:R997L	R	+	2	0	ARHGAP35	52116762	0.993000	0.37304	0.999000	0.59377	0.995000	0.86356	7.298000	0.78815	2.726000	0.93360	0.655000	0.94253	CGA		0.478	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491		8	408	1	0	1.12685e-05	1.12685e-05	0.00119236	8	408				
DPH1	1801	broad.mit.edu	37	17	1943116	1943116	+	Splice_Site	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr17:1943116C>A	ENST00000263083.6	+	7	808	c.763C>A	c.(763-765)Cgg>Agg	p.R255R	OVCA2_ENST00000572195.1_5'Flank|DPH1_ENST00000570477.1_Splice_Site_p.R175R	NM_001383.3	NP_001374.3	Q9BZG8	DPH1_HUMAN	diphthamide biosynthesis 1	255					cell proliferation (GO:0008283)|peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)|translation (GO:0006412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						CCCCGCTTACCGGTATGGGCT	0.577																																						ENST00000263083.6																			0				endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						c.e7+1		diphthamide biosynthesis 1							90.0	97.0	94.0					17																	1943116		1994	4158	6152	SO:0001630	splice_region_variant	1801				peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation	cytoplasm|nucleus		g.chr17:1943116C>A	S81752	CCDS42228.1	17p13.3	2013-05-02	2013-05-02	2005-06-03	ENSG00000108963	ENSG00000108963			3003	protein-coding gene	gene with protein product	"""ovarian tumor suppressor candidate 1"""	603527	"""diptheria toxin resistance protein required for diphthamide biosynthesis-like 1 (S. cerevisiae)"", ""DPH-like 1 (S. cerevisiae)"", ""DPH1 homolog (S. cerevisiae)"""	DPH2L, DPH2L1		8603384, 15485916, 22869748	Standard	NM_001383		Approved	OVCA1	uc002fts.3	Q9BZG8	OTTHUMG00000177724	ENST00000263083.6:c.764+1C>A	17.37:g.1943116C>A						DPH1_ENST00000570477.1_Splice_Site_p.R175_splice	p.R255_splice	NM_001383.3	NP_001374.3	Q9BZG8	DPH1_HUMAN			7	808	+			255					D3DTI3|Q16439|Q4VBA2|Q9BTW7|Q9UCY0	Splice_Site	SNP	ENST00000263083.6	37	c.764_splice	CCDS42228.1																																																																																				0.577	DPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438660.1	NM_001383	Silent	8	497	1	0	2.17888e-05	2.17888e-05	0.00213033	8	497				
SLIT2	9353	broad.mit.edu	37	4	20525792	20525792	+	Missense_Mutation	SNP	G	G	A	rs192894188		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr4:20525792G>A	ENST00000504154.1	+	14	1682	c.1430G>A	c.(1429-1431)cGt>cAt	p.R477H	SLIT2_ENST00000503823.1_Missense_Mutation_p.R477H|SLIT2_ENST00000273739.5_Missense_Mutation_p.R481H|SLIT2_ENST00000503837.1_Missense_Mutation_p.R481H	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	477	LRRCT 2.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						AAGAAATTCCGTTGTTCAGGT	0.478													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17529	0.0		0.0	False		,,,				2504	0.0					ENST00000504154.1																			0				NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						c.(1429-1431)cGt>cAt		slit homolog 2 (Drosophila)							86.0	98.0	94.0					4																	20525792		2203	4300	6503	SO:0001583	missense	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20525792G>A	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.1430G>A	4.37:g.20525792G>A	ENSP00000422591:p.Arg477His					SLIT2_ENST00000503837.1_Missense_Mutation_p.R481H|SLIT2_ENST00000503823.1_Missense_Mutation_p.R477H|SLIT2_ENST00000273739.5_Missense_Mutation_p.R481H	p.R477H	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN			14	1682	+			477			LRRCT 2.		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	c.1430G>A	CCDS3426.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	34	5.335323	0.95758	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	T;T;T;T	0.81163	-1.45;-1.46;-1.37;-1.43	5.93	5.93	0.95920	Cysteine-rich flanking region, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.88097	0.6345	L	0.50919	1.6	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.987;0.988	D	0.87886	0.2681	10	0.72032	D	0.01	.	20.3368	0.98748	0.0:0.0:1.0:0.0	.	477;477	O94813-3;O94813	.;SLIT2_HUMAN	H	477;477;481;481;481	ENSP00000427548:R477H;ENSP00000422591:R477H;ENSP00000273739:R481H;ENSP00000422261:R481H	ENSP00000273739:R481H	R	+	2	0	SLIT2	20134890	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.807000	0.99171	2.805000	0.96524	0.655000	0.94253	CGT		0.478	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			114	398	0	0	0	0.000147903	0	114	398				
KLHL7	55975	broad.mit.edu	37	7	23183515	23183515	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr7:23183515C>A	ENST00000339077.5	+	6	907	c.664C>A	c.(664-666)Cgc>Agc	p.R222S	KLHL7_ENST00000545443.1_Missense_Mutation_p.R200S|KLHL7_ENST00000539124.1_Missense_Mutation_p.R146S|KLHL7_ENST00000542558.1_5'UTR|KLHL7_ENST00000479288.1_3'UTR|KLHL7_ENST00000409689.1_Missense_Mutation_p.R174S|KLHL7_ENST00000322231.7_Missense_Mutation_p.R200S	NM_001031710.2	NP_001026880.2	Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	222	BACK.				protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TGAACCTAATCGCCAGCCATT	0.378																																						ENST00000322231.7																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(598-600)Cgc>Agc		kelch-like family member 7							224.0	209.0	214.0					7																	23183515		2203	4300	6503	SO:0001583	missense	55975					Golgi apparatus|nucleolus|plasma membrane		g.chr7:23183515C>A		CCDS5378.1, CCDS34609.1, CCDS5378.2, CCDS55095.1	7p15.3	2013-01-30	2013-01-30		ENSG00000122550	ENSG00000122550		"""Kelch-like"", ""BTB/POZ domain containing"""	15646	protein-coding gene	gene with protein product	"""retinitis pigmentosa 42"""	611119	"""kelch-like 7 (Drosophila)"""			19520207	Standard	NM_001031710		Approved	KLHL6, SBBI26, RP42	uc003svs.4	Q8IXQ5	OTTHUMG00000094813	ENST00000339077.5:c.664C>A	7.37:g.23183515C>A	ENSP00000343273:p.Arg222Ser					KLHL7_ENST00000339077.4_Missense_Mutation_p.R222S|KLHL7_ENST00000545443.1_Missense_Mutation_p.R200S|KLHL7_ENST00000539124.1_Missense_Mutation_p.R146S|KLHL7_ENST00000542558.1_5'UTR|KLHL7_ENST00000479288.1_3'UTR|KLHL7_ENST00000409689.1_Missense_Mutation_p.R174S	p.R200S			Q8IXQ5	KLHL7_HUMAN			7	1088	+			222					A4D144|B7Z5I9|G5E9G3|Q7Z765|Q96MV2|Q9BQF8|Q9UDQ9	Missense_Mutation	SNP	ENST00000339077.5	37	c.598C>A	CCDS34609.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.603408	0.87157	.	.	ENSG00000122550	ENST00000536369;ENST00000322231;ENST00000339077;ENST00000539124;ENST00000409689;ENST00000545443	T;T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73;-0.73	5.43	5.43	0.79202	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	D	0.87815	0.6272	M	0.91354	3.2	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.71870	0.975;0.957	D	0.90023	0.4129	10	0.87932	D	0	.	19.5857	0.95489	0.0:1.0:0.0:0.0	.	222;200	Q8IXQ5;Q8IXQ5-2	KLHL7_HUMAN;.	S	188;200;222;146;174;200	ENSP00000322958:R200S;ENSP00000343273:R222S;ENSP00000441136:R146S;ENSP00000386263:R174S;ENSP00000442366:R200S	ENSP00000322958:R200S	R	+	1	0	KLHL7	23150040	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.276000	0.58933	2.696000	0.92011	0.591000	0.81541	CGC		0.378	KLHL7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326860.3	NM_018846		13	1105	1	0	0.000151284	0.000151284	0.00973904	13	1105				
FOXP2	93986	broad.mit.edu	37	7	114270000	114270000	+	Silent	SNP	G	G	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr7:114270000G>A	ENST00000393494.2	+	5	816	c.537G>A	c.(535-537)caG>caA	p.Q179Q	FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000393500.3_Silent_p.Q104Q|FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q			O15409	FOXP2_HUMAN	forkhead box P2	179	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|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 negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q204Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcaacaacagcagcagcagc	0.498																																						ENST00000393500.3																			1	Substitution - coding silent(1)	p.Q204Q(1)	lung(1)	breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(310-312)caG>caA		forkhead box P2							41.0	38.0	39.0					7																	114270000		2199	4282	6481	SO:0001819	synonymous_variant	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding	g.chr7:114270000G>A	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.537G>A	7.37:g.114270000G>A						AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000393494.2_Silent_p.Q179Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000390668.3_Silent_p.Q203Q	p.Q104Q			O15409	FOXP2_HUMAN			11	1132	+			179			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Silent	SNP	ENST00000393494.2	37	c.312G>A	CCDS5760.1																																																																																				0.498	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		6	311	0	0	0	8.12818e-05	0	6	311				
KRTAP4-7	100132476	broad.mit.edu	37	17	39240908	39240908	+	Silent	SNP	T	T	C			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	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			7	41	0	0	0	1.12685e-05	0	7	41				
ABCC12	94160	broad.mit.edu	37	16	48149365	48149365	+	Silent	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr16:48149365G>T	ENST00000311303.3	-	13	2295	c.1950C>A	c.(1948-1950)ctC>ctA	p.L650L	ABCC12_ENST00000448542.1_Silent_p.L650L|ABCC12_ENST00000416054.1_Nonsense_Mutation_p.S626*	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	650	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TCTTTCCCCTGAGCGTCTTCT	0.607																																						ENST00000416054.1																			0				NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90						c.(1876-1878)tCa>tAa		ATP-binding cassette, sub-family C (CFTR/MRP), member 12							193.0	177.0	182.0					16																	48149365		2201	4300	6501	SO:0001819	synonymous_variant	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48149365G>T	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.1950C>A	16.37:g.48149365G>T						ABCC12_ENST00000448542.1_Silent_p.L650L|ABCC12_ENST00000311303.3_Silent_p.L650L	p.S626*			Q96J65	MRP9_HUMAN			12	1882	-		all_cancers(37;0.0474)|all_lung(18;0.047)	0			ABC transporter 1.		Q49AL2|Q8TAF0|Q8TEY2	Nonsense_Mutation	SNP	ENST00000311303.3	37	c.1877C>A	CCDS10730.1	.	.	.	.	.	.	.	.	.	.	G	36	5.711257	0.96821	.	.	ENSG00000140798	ENST00000416054	.	.	.	5.24	0.714	0.18180	.	.	.	.	.	.	.	.	.	.	.	0.47123	A	0.999322	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	1.794	0.03057	0.2309:0.2487:0.3932:0.1272	.	.	.	.	X	626	.	ENSP00000413046:S626X	S	-	2	0	ABCC12	46706866	0.000000	0.05858	0.903000	0.35520	0.535000	0.34838	-0.463000	0.06696	0.286000	0.22352	0.467000	0.42956	TCA		0.607	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		11	695	1	0	3.45872e-05	3.45872e-05	0.0032145	11	695				
SBDS	51119	broad.mit.edu	37	7	66458225	66458225	+	Silent	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr7:66458225G>T	ENST00000246868.2	-	3	621	c.438C>A	c.(436-438)acC>acA	p.T146T		NM_016038.2	NP_057122.2	Q9Y3A5	SBDS_HUMAN	Shwachman-Bodian-Diamond syndrome	146				T -> P (in Ref. 2; AAD34092). {ECO:0000305}.	bone marrow development (GO:0048539)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|inner cell mass cell proliferation (GO:0001833)|leukocyte chemotaxis (GO:0030595)|mature ribosome assembly (GO:0042256)|mitotic spindle stabilization (GO:0043148)|ribosomal large subunit biogenesis (GO:0042273)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|rRNA binding (GO:0019843)			cervix(1)|endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7						TACTCTTGTTGGTTTTCACCG	0.393			Gene Conversion			"""AML, MDS"""			Shwachman-Diamond syndrome																													ENST00000246868.2			yes	Rec		Schwachman-Diamond syndrome	7	7q11	51119	Gene Conversion	Shwachman-Bodian-Diamond syndrome protein			L		"""AML, MDS"""			0				cervix(1)|endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7						c.(436-438)acC>acA		Shwachman-Bodian-Diamond syndrome							268.0	243.0	252.0					7																	66458225		2203	4300	6503	SO:0001819	synonymous_variant	51119	Shwachman-Diamond syndrome	Familial Cancer Database	Shwachman syndrome, Shwachman-Bodian syndrome, Congenital Lipomatosis of the Pancreas	bone marrow development|bone mineralization|leukocyte chemotaxis|mature ribosome assembly|mitotic spindle stabilization|positive regulation of translation|ribosomal large subunit biogenesis|rRNA processing	cytoplasm|nucleolus|nucleoplasm|spindle pole	microtubule binding|ribosome binding|rRNA binding	g.chr7:66458225G>T	AF151855	CCDS5537.1	7q11.22	2014-09-17			ENSG00000126524	ENSG00000126524			19440	protein-coding gene	gene with protein product		607444				12496757	Standard	NM_016038		Approved	CGI-97, FLJ10917, SDS, SWDS	uc003tvm.1	Q9Y3A5	OTTHUMG00000023165	ENST00000246868.2:c.438C>A	7.37:g.66458225G>T							p.T146T	NM_016038.2	NP_057122.2	Q9Y3A5	SBDS_HUMAN			3	621	-			146	T -> P (in Ref. 2; AAD34092).				A8K0P4|Q96FX0|Q9NV53	Silent	SNP	ENST00000246868.2	37	c.438C>A	CCDS5537.1																																																																																				0.393	SBDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251746.2	NM_016038		11	1255	1	0	3.86212e-05	3.86212e-05	0.00332401	11	1255				
KBTBD7	84078	broad.mit.edu	37	13	41766701	41766701	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr13:41766701C>A	ENST00000379483.3	-	1	2001	c.1693G>T	c.(1693-1695)Gac>Tac	p.D565Y		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	565										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		AACTTTTGGTCATGATTGACA	0.428																																						ENST00000379483.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(1693-1695)Gac>Tac		kelch repeat and BTB (POZ) domain containing 7							178.0	175.0	176.0					13																	41766701		2203	4300	6503	SO:0001583	missense	84078						protein binding	g.chr13:41766701C>A	AL136782	CCDS9377.1	13q13.3	2013-01-08			ENSG00000120696	ENSG00000120696		"""BTB/POZ domain containing"""	25266	protein-coding gene	gene with protein product						11230166	Standard	NM_032138		Approved	DKFZP434E2318	uc001uxw.1	Q8WVZ9	OTTHUMG00000016789	ENST00000379483.3:c.1693G>T	13.37:g.41766701C>A	ENSP00000368797:p.Asp565Tyr						p.D565Y	NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)	1	2001	-		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)	565					B5TZ86|Q5T6Y7|Q8NB99|Q9H0I6	Missense_Mutation	SNP	ENST00000379483.3	37	c.1693G>T	CCDS9377.1	.	.	.	.	.	.	.	.	.	.	C	7.206	0.594450	0.13875	.	.	ENSG00000120696	ENST00000379483;ENST00000501885	T	0.70164	-0.46	5.37	5.37	0.77165	Kelch-type beta propeller (1);	0.277584	0.34110	U	0.004247	T	0.51753	0.1693	N	0.19112	0.55	0.36583	D	0.87366	P	0.36495	0.556	B	0.31016	0.123	T	0.65228	-0.6219	10	0.72032	D	0.01	.	16.5964	0.84797	0.0:1.0:0.0:0.0	.	565	Q8WVZ9	KBTB7_HUMAN	Y	565;467	ENSP00000368797:D565Y	ENSP00000368797:D565Y	D	-	1	0	KBTBD7	40664701	1.000000	0.71417	1.000000	0.80357	0.210000	0.24377	1.986000	0.40677	2.502000	0.84385	0.557000	0.71058	GAC		0.428	KBTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044660.1	NM_032138		14	847	1	0	5.3912e-06	7.07596e-05	0.000617672	14	847				
PRDM2	7799	broad.mit.edu	37	1	14107823	14107823	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:14107823C>A	ENST00000235372.7	+	8	4389	c.3533C>A	c.(3532-3534)tCa>tAa	p.S1178*	PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000413440.1_Nonsense_Mutation_p.S977*|PRDM2_ENST00000343137.4_Nonsense_Mutation_p.S977*|PRDM2_ENST00000311066.5_Nonsense_Mutation_p.S1178*|PRDM2_ENST00000503842.1_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1178					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		ACGGACTTGTCAGAACATCGC	0.363																																						ENST00000235372.7																			0				endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55						c.(3532-3534)tCa>tAa		PR domain containing 2, with ZNF domain							107.0	106.0	107.0					1																	14107823		2203	4300	6503	SO:0001587	stop_gained	7799					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:14107823C>A	U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"""Chromatin-modifying enzymes / K-methyltransferases"""	9347	protein-coding gene	gene with protein product	"""retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""MTE-binding protein"", ""zinc-finger DNA-binding protein"", ""GATA-3 binding protein G3B"""	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.3533C>A	1.37:g.14107823C>A	ENSP00000235372:p.Ser1178*					PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000413440.1_Nonsense_Mutation_p.S977*|PRDM2_ENST00000311066.5_Nonsense_Mutation_p.S1178*|PRDM2_ENST00000343137.4_Nonsense_Mutation_p.S977*	p.S1178*	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)	8	4389	+	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	1178					B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Nonsense_Mutation	SNP	ENST00000235372.7	37	c.3533C>A	CCDS150.1	.	.	.	.	.	.	.	.	.	.	C	41	8.666899	0.98908	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	.	.	.	5.97	5.97	0.96955	.	0.079867	0.56097	D	0.000029	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	.	18.9918	0.92796	0.0:1.0:0.0:0.0	.	.	.	.	X	1178;1178;1178;977;977	.	ENSP00000235372:S1178X	S	+	2	0	PRDM2	13980410	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.592000	0.67543	2.837000	0.97791	0.655000	0.94253	TCA		0.363	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		11	791	1	0	6.40141e-05	6.40141e-05	0.00496729	11	791				
TRMT13	54482	broad.mit.edu	37	1	100602634	100602634	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:100602634C>A	ENST00000370141.2	+	3	260	c.254C>A	c.(253-255)cCa>cAa	p.P85Q	TRMT13_ENST00000370139.1_Missense_Mutation_p.P54Q|TRMT13_ENST00000370143.1_Missense_Mutation_p.P85Q	NM_019083.2	NP_061956.2	Q9NUP7	TRM13_HUMAN	tRNA methyltransferase 13 homolog (S. cerevisiae)	85					tRNA processing (GO:0008033)		metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)										AGAGAGAAACCAAAACCTGTA	0.338																																						ENST00000370141.2																			0											c.(253-255)cCa>cAa		tRNA methyltransferase 13 homolog (S. cerevisiae)							83.0	87.0	86.0					1																	100602634		2203	4300	6503	SO:0001583	missense	54482							g.chr1:100602634C>A	BC075811	CCDS765.1	1p21.2	2012-06-07	2012-06-07	2012-06-07	ENSG00000122435	ENSG00000122435			25502	protein-coding gene	gene with protein product			"""coiled-coil domain containing 76"""	CCDC76		11799066	Standard	NM_019083		Approved	FLJ10287, FLJ11219	uc001dsv.3	Q9NUP7	OTTHUMG00000010841	ENST00000370141.2:c.254C>A	1.37:g.100602634C>A	ENSP00000359160:p.Pro85Gln					TRMT13_ENST00000370143.1_Missense_Mutation_p.P85Q|TRMT13_ENST00000370139.1_Missense_Mutation_p.P54Q	p.P85Q	NM_019083.2	NP_061956.2					3	260	+								Q5VVL0|Q9NW65	Missense_Mutation	SNP	ENST00000370141.2	37	c.254C>A	CCDS765.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.326621	0.81690	.	.	ENSG00000122435	ENST00000370143;ENST00000370141;ENST00000370139	T;T;T	0.42513	1.03;1.02;0.97	5.78	5.78	0.91487	.	0.048914	0.85682	D	0.000000	T	0.52757	0.1754	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	0.994;1.0	P;D	0.73380	0.88;0.98	T	0.30995	-0.9959	10	0.23302	T	0.38	-10.4814	19.5995	0.95554	0.0:1.0:0.0:0.0	.	85;85	B4DQS9;Q9NUP7	.;TRM13_HUMAN	Q	85;85;54	ENSP00000359162:P85Q;ENSP00000359160:P85Q;ENSP00000359158:P54Q	ENSP00000359158:P54Q	P	+	2	0	CCDC76	100375222	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.923000	0.75817	2.714000	0.92807	0.650000	0.86243	CCA		0.338	TRMT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029919.1	NM_019083		13	907	1	0	1.58986e-06	3.86212e-05	0.000199287	13	907				
SLC25A13	10165	broad.mit.edu	37	7	95818680	95818680	+	Missense_Mutation	SNP	A	A	C			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr7:95818680A>C	ENST00000265631.5	-	9	995	c.859T>G	c.(859-861)Tta>Gta	p.L287V	SLC25A13_ENST00000416240.2_Missense_Mutation_p.L287V|SLC25A13_ENST00000542654.1_Missense_Mutation_p.L179V			Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	287					aspartate transport (GO:0015810)|ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular respiration (GO:0045333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|transporter activity (GO:0005215)			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	ATGTCTGCTAAGGTCATACGT	0.393																																						ENST00000416240.2																			0				breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42						c.(859-861)Tta>Gta		solute carrier family 25 (aspartate/glutamate carrier), member 13	L-Aspartic Acid(DB00128)						94.0	92.0	92.0					7																	95818680		2203	4300	6503	SO:0001583	missense	10165				ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity	g.chr7:95818680A>C	AF118838	CCDS5645.1, CCDS55130.1	7q21.3	2013-05-22	2012-03-29		ENSG00000004864	ENSG00000004864		"""Solute carriers"", ""EF-hand domain containing"""	10983	protein-coding gene	gene with protein product	"""mitochondrial aspartate glutamate carrier 2"""	603859	"""solute carrier family 25, member 13 (citrin)"""	CTLN2		10369257	Standard	NM_014251		Approved	CITRIN, ARALAR2	uc003uog.4	Q9UJS0	OTTHUMG00000023074	ENST00000265631.5:c.859T>G	7.37:g.95818680A>C	ENSP00000265631:p.Leu287Val					SLC25A13_ENST00000265631.5_Missense_Mutation_p.L287V|SLC25A13_ENST00000542654.1_Missense_Mutation_p.L179V	p.L287V	NM_001160210.1|NM_014251.2	NP_001153682.1|NP_055066.1	Q9UJS0	CMC2_HUMAN	STAD - Stomach adenocarcinoma(171;0.194)		9	1049	-	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		287					O14566|O14575|Q546F9|Q9NZW1|Q9UNI7	Missense_Mutation	SNP	ENST00000265631.5	37	c.859T>G	CCDS5645.1	.	.	.	.	.	.	.	.	.	.	A	8.292	0.818007	0.16607	.	.	ENSG00000004864	ENST00000265631;ENST00000416240;ENST00000542654	T;T;T	0.80653	-1.4;-1.39;-1.37	4.69	3.55	0.40652	EF-hand-like domain (1);	.	.	.	.	T	0.79678	0.4487	M	0.83223	2.63	0.42021	D	0.990984	B;B;B	0.25206	0.12;0.073;0.073	B;B;B	0.28916	0.096;0.044;0.044	T	0.76326	-0.3000	9	0.42905	T	0.14	-8.2043	6.7603	0.23536	0.7888:0.0:0.0753:0.1359	.	179;287;287	F5GX33;Q546F9;Q9UJS0	.;.;CMC2_HUMAN	V	287;287;179	ENSP00000265631:L287V;ENSP00000400101:L287V;ENSP00000440484:L179V	ENSP00000265631:L287V	L	-	1	2	SLC25A13	95656616	0.324000	0.24652	1.000000	0.80357	0.164000	0.22412	1.072000	0.30678	1.129000	0.42072	0.533000	0.62120	TTA		0.393	SLC25A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059395.2	NM_014251		13	316	0	0	0	1.49906e-05	0	13	316				
ZNF502	91392	broad.mit.edu	37	3	44762976	44762976	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:44762976C>A	ENST00000296091.4	+	4	923	c.667C>A	c.(667-669)Cga>Aga	p.R223R	ZNF502_ENST00000436624.2_Silent_p.R223R|ZNF502_ENST00000449836.1_Silent_p.R223R	NM_001134440.1|NM_001282880.1|NM_033210.4	NP_001127912.1|NP_001269809.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	223					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)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		ATTTCGATGTCGATCATTTCT	0.398																																						ENST00000296091.4																			0				NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19						c.(667-669)Cga>Aga		zinc finger protein 502							153.0	159.0	157.0					3																	44762976		2203	4300	6503	SO:0001819	synonymous_variant	91392				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:44762976C>A	AK022577	CCDS2719.1	3p21.32	2013-01-08			ENSG00000196653	ENSG00000196653		"""Zinc fingers, C2H2-type"""	23718	protein-coding gene	gene with protein product							Standard	NM_033210		Approved	FLJ14855, FLJ12515	uc003cnt.3	Q8TBZ5	OTTHUMG00000133086	ENST00000296091.4:c.667C>A	3.37:g.44762976C>A						ZNF502_ENST00000449836.1_Silent_p.R223R|ZNF502_ENST00000436624.2_Silent_p.R223R	p.R223R	NM_001134440.1|NM_033210.4	NP_001127912.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)	4	923	+			223						Silent	SNP	ENST00000296091.4	37	c.667C>A	CCDS2719.1																																																																																				0.398	ZNF502-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256744.4	NM_033210		17	938	1	0	0.000132079	0.000132079	0.00935769	17	938				
ASB10	136371	broad.mit.edu	37	7	150878170	150878170	+	Silent	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr7:150878170G>T	ENST00000420175.2	-	3	984	c.960C>A	c.(958-960)gcC>gcA	p.A320A	ASB10_ENST00000275838.1_Silent_p.A320A|ASB10_ENST00000422024.1_Silent_p.A365A|ASB10_ENST00000434669.1_Silent_p.A365A|ASB10_ENST00000377867.3_Silent_p.A305A			Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	320			A -> T (in GLC1F; uncertain pathological significance). {ECO:0000269|PubMed:22156576}.		intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCATGGTGTTGGCGCTGACAC	0.682																																						ENST00000422024.1																			0				NS(1)|endometrium(2)|lung(7)|skin(2)	12						c.(1093-1095)gcC>gcA		ankyrin repeat and SOCS box containing 10							48.0	41.0	43.0					7																	150878170		2203	4297	6500	SO:0001819	synonymous_variant	136371				intracellular signal transduction			g.chr7:150878170G>T	AK055536	CCDS5921.2, CCDS47749.1, CCDS47750.1, CCDS47749.2, CCDS47750.2	7q35	2014-02-04	2011-01-25		ENSG00000146926	ENSG00000146926		"""Ankyrin repeat domain containing"""	17185	protein-coding gene	gene with protein product		615054	"""ankyrin repeat and SOCS box-containing 10"", ""glaucoma 1, open angle, F (adult-onset)"""	GLC1F		22156576	Standard	NM_080871		Approved		uc003wjm.1	Q8WXI3	OTTHUMG00000157013	ENST00000420175.2:c.960C>A	7.37:g.150878170G>T						ASB10_ENST00000434669.1_Silent_p.A365A|ASB10_ENST00000420175.2_Silent_p.A320A|ASB10_ENST00000275838.1_Silent_p.A320A|ASB10_ENST00000377867.3_Silent_p.A305A	p.A365A	NM_001142459.1	NP_001135931.2	Q8WXI3	ASB10_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	1220	-			320					A0AVH0|Q6ZUL6	Silent	SNP	ENST00000420175.2	37	c.1095C>A	CCDS47750.2																																																																																				0.682	ASB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347096.3	NM_080871		6	274	1	0	5.18039e-06	0.000157383	0.000614681	6	274				
WDR78	79819	broad.mit.edu	37	1	67337143	67337143	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:67337143C>A	ENST00000371026.3	-	6	905	c.850G>T	c.(850-852)Gac>Tac	p.D284Y	WDR78_ENST00000371023.3_Missense_Mutation_p.D284Y|WDR78_ENST00000371022.3_Missense_Mutation_p.D284Y|WDR78_ENST00000431318.1_Missense_Mutation_p.D30Y	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	284					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						ACATATAGGTCATTGCCTAAT	0.318																																						ENST00000371026.3																			0				NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						c.(850-852)Gac>Tac		WD repeat domain 78							159.0	157.0	158.0					1																	67337143		2202	4297	6499	SO:0001583	missense	79819							g.chr1:67337143C>A	BX648840	CCDS635.1, CCDS44157.1	1p31.2	2014-02-21	2013-02-19	2013-02-19	ENSG00000152763	ENSG00000152763		"""WD repeat domain containing"""	26252	protein-coding gene	gene with protein product						21953912	Standard	NM_207014		Approved	DIC4, FLJ23129	uc001dcx.3	Q5VTH9	OTTHUMG00000009165	ENST00000371026.3:c.850G>T	1.37:g.67337143C>A	ENSP00000360065:p.Asp284Tyr					WDR78_ENST00000371022.3_Missense_Mutation_p.D284Y|WDR78_ENST00000371023.3_Missense_Mutation_p.D284Y|WDR78_ENST00000431318.1_Missense_Mutation_p.D30Y	p.D284Y	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN			6	905	-			284					A8K9W5|B5MDT3|H7BY80|Q5VTI0|Q8N5G5|Q9H5R9|Q9UF44	Missense_Mutation	SNP	ENST00000371026.3	37	c.850G>T	CCDS635.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.34|14.34	2.507082|2.507082	0.44558|0.44558	.|.	.|.	ENSG00000152763|ENSG00000152763	ENST00000371026;ENST00000431318;ENST00000464352;ENST00000371023;ENST00000371022|ENST00000469450	T;T;T;T;T|.	0.79554|.	-0.23;-1.28;-0.66;1.57;0.19|.	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	0.047040|.	0.85682|.	D|.	0.000000|.	T|.	0.79417|.	0.4442|.	M|M	0.82323|0.82323	2.585|2.585	0.58432|0.58432	D|D	0.999996|0.999996	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.91635|.	0.998;0.999;0.994;0.994|.	T|.	0.79349|.	-0.1840|.	10|.	0.87932|.	D|.	0|.	-28.0743|-28.0743	18.9441|18.9441	0.92615|0.92615	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	30;284;284;284|.	Q5VTH9-3;Q5TAD8;A0AVI9;Q5VTH9|.	.;.;.;WDR78_HUMAN|.	Y|L	284;30;50;284;284|17	ENSP00000360065:D284Y;ENSP00000393182:D30Y;ENSP00000433682:D50Y;ENSP00000360062:D284Y;ENSP00000360061:D284Y|.	ENSP00000360061:D284Y|.	D|X	-|-	1|2	0|2	WDR78|WDR78	67109731|67109731	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.063000|0.063000	0.16089|0.16089	4.342000|4.342000	0.59341|0.59341	2.763000|2.763000	0.94921|0.94921	0.650000|0.650000	0.86243|0.86243	GAC|TGA		0.318	WDR78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025404.1	NM_024763		83	819	1	0	1.45872e-26	0.000147903	2.17411e-24	83	819				
HMCN1	83872	broad.mit.edu	37	1	185931765	185931765	+	Silent	SNP	C	C	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:185931765C>T	ENST00000271588.4	+	12	2173	c.1944C>T	c.(1942-1944)aaC>aaT	p.N648N	HMCN1_ENST00000367492.2_Silent_p.N648N|HMCN1_ENST00000485744.1_3'UTR	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	648	Ig-like C2-type 3.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GGACCGTTAACGATATGTTTA	0.413																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(1942-1944)aaC>aaT		hemicentin 1							207.0	190.0	196.0					1																	185931765		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185931765C>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.1944C>T	1.37:g.185931765C>T						HMCN1_ENST00000367492.2_Silent_p.N648N|HMCN1_ENST00000485744.1_3'UTR	p.N648N	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			12	2173	+			648			Ig-like C2-type 3.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.1944C>T	CCDS30956.1																																																																																				0.413	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		15	1010	0	0	0	7.07596e-05	0	15	1010				
FRG1B	284802	broad.mit.edu	37	20	29628283	29628283	+	Silent	SNP	G	G	C	rs200164543		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr20:29628283G>C	ENST00000278882.3	+	6	665	c.285G>C	c.(283-285)ggG>ggC	p.G95G	FRG1B_ENST00000439954.2_Silent_p.G100G|FRG1B_ENST00000358464.4_Silent_p.G95G			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	95								p.G95G(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGAAGCAGGGGACATAGAAG	0.378																																						ENST00000278882.3																			4	Substitution - coding silent(4)	p.G95G(4)	urinary_tract(2)|kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(283-285)ggG>ggC																																						SO:0001819	synonymous_variant	0							g.chr20:29628283G>C			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.285G>C	20.37:g.29628283G>C						FRG1B_ENST00000439954.2_Silent_p.G100G|FRG1B_ENST00000358464.4_Silent_p.G95G	p.G95G							6	665	+								C4AME5	Silent	SNP	ENST00000278882.3	37	c.285G>C																																																																																					0.378	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		19	687	0	0	0	0.000147802	0	19	687				
PFKP	5214	broad.mit.edu	37	10	3149495	3149495	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr10:3149495C>A	ENST00000381125.4	+	8	940	c.864C>A	c.(862-864)atC>atA	p.I288I	PFKP_ENST00000381075.2_Silent_p.I280I	NM_002627.4	NP_002618.1	Q01813	PFKAP_HUMAN	phosphofructokinase, platelet	288	N-terminal catalytic PFK domain 1.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein complex binding (GO:0032403)			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		CTGAGAAAATCAAAGAGGTGA	0.458																																						ENST00000381075.2																			0				breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(838-840)atC>atA		phosphofructokinase, platelet							64.0	64.0	64.0					10																	3149495		2199	4300	6499	SO:0001819	synonymous_variant	5214				glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding	g.chr10:3149495C>A	AK092597	CCDS7059.1, CCDS55698.1	10p15.3-p15.2	2006-08-25			ENSG00000067057	ENSG00000067057	2.7.1.11		8878	protein-coding gene	gene with protein product	"""Phosphofructokinase, platelet type"""	171840					Standard	NM_002627		Approved	PFK-C, PFKF	uc001igp.3	Q01813	OTTHUMG00000017556	ENST00000381125.4:c.864C>A	10.37:g.3149495C>A						PFKP_ENST00000381125.4_Silent_p.I288I	p.I280I	NM_001242339.1	NP_001229268.1	Q01813	K6PP_HUMAN		GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)	10	1064	+			288					B3KS15|Q5VSR7|Q5VSR8	Silent	SNP	ENST00000381125.4	37	c.840C>A	CCDS7059.1																																																																																				0.458	PFKP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046454.1	NM_002627		10	400	1	0	1.58986e-06	3.86212e-05	0.000199287	10	400				
FEM1B	10116	broad.mit.edu	37	15	68582429	68582429	+	Missense_Mutation	SNP	G	G	T	rs375920632		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr15:68582429G>T	ENST00000306917.4	+	2	1348	c.733G>T	c.(733-735)Gac>Tac	p.D245Y		NM_015322.4	NP_056137.1	Q9UK73	FEM1B_HUMAN	fem-1 homolog b (C. elegans)	245					apoptotic process (GO:0006915)|branching involved in prostate gland morphogenesis (GO:0060442)|epithelial cell maturation involved in prostate gland development (GO:0060743)|regulation of DNA damage checkpoint (GO:2000001)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of ubiquitin-protein transferase activity (GO:0051438)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	death receptor binding (GO:0005123)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						TGCTGATTGCGACCGAAGAAG	0.438																																						ENST00000306917.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						c.(733-735)Gac>Tac		fem-1 homolog b (C. elegans)							133.0	130.0	131.0					15																	68582429		2200	4298	6498	SO:0001583	missense	10116				apoptosis|induction of apoptosis|regulation of DNA damage checkpoint|regulation of ubiquitin-protein ligase activity	cytoplasm|nucleus	death receptor binding|ubiquitin-protein ligase activity	g.chr15:68582429G>T		CCDS10228.1	15q22	2013-02-19	2001-11-28		ENSG00000169018	ENSG00000169018		"""Ankyrin repeat domain containing"""	3649	protein-coding gene	gene with protein product		613539	"""FEM-1 (C. elegans) homolog b"""			10623617	Standard	NM_015322		Approved		uc002arg.3	Q9UK73	OTTHUMG00000133285	ENST00000306917.4:c.733G>T	15.37:g.68582429G>T	ENSP00000307298:p.Asp245Tyr						p.D245Y	NM_015322.3	NP_056137.1	Q9UK73	FEM1B_HUMAN			2	1348	+			245					O43146	Missense_Mutation	SNP	ENST00000306917.4	37	c.733G>T	CCDS10228.1	.	.	.	.	.	.	.	.	.	.	G	17.16	3.317944	0.60524	.	.	ENSG00000169018	ENST00000306917	T	0.60797	0.16	5.77	5.77	0.91146	Ankyrin repeat-containing domain (1);	0.041995	0.85682	D	0.000000	T	0.60483	0.2272	L	0.38175	1.15	0.80722	D	1	P	0.48694	0.914	P	0.52793	0.709	T	0.62661	-0.6807	10	0.72032	D	0.01	-13.848	14.2431	0.65971	0.0734:0.0:0.9266:0.0	.	245	Q9UK73	FEM1B_HUMAN	Y	245	ENSP00000307298:D245Y	ENSP00000307298:D245Y	D	+	1	0	FEM1B	66369483	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	6.746000	0.74866	2.717000	0.92951	0.555000	0.69702	GAC		0.438	FEM1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257065.1			9	587	1	0	2.17888e-05	2.17888e-05	0.00213033	9	587				
MGAT3	4248	broad.mit.edu	37	22	39884255	39884255	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr22:39884255C>A	ENST00000341184.6	+	2	1118	c.903C>A	c.(901-903)gtC>gtA	p.V301V		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	301					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0003830)			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					AGGACGGCGTCTCGCGGCTGC	0.657																																						ENST00000341184.6																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24						c.(901-903)gtC>gtA		mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase							59.0	61.0	60.0					22																	39884255		2202	4296	6498	SO:0001819	synonymous_variant	4248				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity	g.chr22:39884255C>A	D13789	CCDS13994.2	22q13.1	2013-02-25			ENSG00000128268	ENSG00000128268	2.4.1.144	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7046	protein-coding gene	gene with protein product		604621				8370666	Standard	NM_002409		Approved	GNT-III	uc010gxy.3	Q09327	OTTHUMG00000030185	ENST00000341184.6:c.903C>A	22.37:g.39884255C>A							p.V301V	NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN			2	1118	+	Melanoma(58;0.04)		301					A6NGD0|Q14CK5|Q6IC49|Q9UH32	Silent	SNP	ENST00000341184.6	37	c.903C>A	CCDS13994.2																																																																																				0.657	MGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075039.2	NM_002409		77	520	1	0	5.88917e-42	0.000147903	8.83123e-40	77	520				
SCN2A	6326	broad.mit.edu	37	2	166226782	166226782	+	Nonsense_Mutation	SNP	G	G	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:166226782G>A	ENST00000375437.2	+	20	4112	c.3822G>A	c.(3820-3822)tgG>tgA	p.W1274*	SCN2A_ENST00000357398.3_Nonsense_Mutation_p.W1274*|SCN2A_ENST00000283256.6_Nonsense_Mutation_p.W1274*|SCN2A_ENST00000375427.2_Nonsense_Mutation_p.W1274*	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1274					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CCAATGCCTGGTGCTGGCTAG	0.393																																						ENST00000357398.3																			0				NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(3820-3822)tgG>tgA		sodium channel, voltage-gated, type II, alpha subunit	Lamotrigine(DB00555)						206.0	190.0	195.0					2																	166226782		2203	4300	6503	SO:0001587	stop_gained	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166226782G>A	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.3822G>A	2.37:g.166226782G>A	ENSP00000364586:p.Trp1274*					SCN2A_ENST00000375427.2_Nonsense_Mutation_p.W1274*|SCN2A_ENST00000375437.2_Nonsense_Mutation_p.W1274*|SCN2A_ENST00000283256.6_Nonsense_Mutation_p.W1274*	p.W1274*			Q99250	SCN2A_HUMAN			20	4112	+			1274					A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Nonsense_Mutation	SNP	ENST00000375437.2	37	c.3822G>A	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	G	44	10.760907	0.99463	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	.	.	.	5.97	5.97	0.96955	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.4324	0.99085	0.0:0.0:1.0:0.0	.	.	.	.	X	1274	.	ENSP00000283256:W1274X	W	+	3	0	SCN2A	165935028	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.833000	0.97629	0.585000	0.79938	TGG		0.393	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		16	1008	0	0	0	3.45872e-05	0	16	1008				
PLCH1	23007	broad.mit.edu	37	3	155241698	155241698	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:155241698G>T	ENST00000340059.7	-	10	1421	c.1422C>A	c.(1420-1422)ttC>ttA	p.F474L	PLCH1_ENST00000414191.1_Missense_Mutation_p.F456L|PLCH1_ENST00000494598.1_Missense_Mutation_p.F474L|PLCH1_ENST00000447496.2_Missense_Mutation_p.F474L|PLCH1_ENST00000460012.1_Missense_Mutation_p.F456L|PLCH1_ENST00000334686.6_Missense_Mutation_p.F456L	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	474					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AATGGAGCTTGAATTTGCACT	0.423																																						ENST00000460012.1																			0				NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107						c.(1366-1368)ttC>ttA		phospholipase C, eta 1							244.0	222.0	229.0					3																	155241698		2203	4300	6503	SO:0001583	missense	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155241698G>T	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.1422C>A	3.37:g.155241698G>T	ENSP00000345988:p.Phe474Leu					PLCH1_ENST00000494598.1_Missense_Mutation_p.F474L|PLCH1_ENST00000340059.7_Missense_Mutation_p.F474L|PLCH1_ENST00000414191.1_Missense_Mutation_p.F456L|PLCH1_ENST00000334686.6_Missense_Mutation_p.F456L|PLCH1_ENST00000447496.2_Missense_Mutation_p.F474L	p.F456L			Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		11	1725	-			474					Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	c.1368C>A	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	G	6.629	0.484579	0.12641	.	.	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T;T;T	0.35236	1.32;1.32;1.32;1.32;1.32;1.32	5.48	-0.01	0.13998	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);	0.215323	0.44483	D	0.000450	T	0.10551	0.0258	N	0.04018	-0.295	0.36115	D	0.845089	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.12837	0.008;0.003;0.001	T	0.32929	-0.9888	10	0.02654	T	1	.	2.8455	0.05541	0.3453:0.0932:0.4209:0.1405	.	456;474;474	Q4KWH8-2;Q4KWH8;Q4KWH8-3	.;PLCH1_HUMAN;.	L	474;456;474;474;456;456	ENSP00000419100:F474L;ENSP00000417502:F456L;ENSP00000402759:F474L;ENSP00000345988:F474L;ENSP00000335469:F456L;ENSP00000412977:F456L	ENSP00000335469:F456L	F	-	3	2	PLCH1	156724392	0.992000	0.36948	0.998000	0.56505	0.985000	0.73830	0.126000	0.15769	0.036000	0.15547	0.563000	0.77884	TTC		0.423	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		13	615	1	0	0.000151284	0.000151284	0.00973904	13	615				
EVI2A	2123	broad.mit.edu	37	17	29645652	29645652	+	Missense_Mutation	SNP	G	G	A	rs139943451		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr17:29645652G>A	ENST00000462804.2	-	2	779	c.380C>T	c.(379-381)gCg>gTg	p.A127V	EVI2A_ENST00000461237.1_Missense_Mutation_p.A127V|NF1_ENST00000356175.3_Intron|EVI2A_ENST00000247270.3_Missense_Mutation_p.A150V|NF1_ENST00000358273.4_Intron|CTD-2370N5.3_ENST00000578584.1_Silent_p.C66C|NF1_ENST00000581113.2_Intron	NM_014210.3	NP_055025.2	P22794	EVI2A_HUMAN	ecotropic viral integration site 2A	127					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)		GTTGTTTTCCGCACAGACATC	0.358																																						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.(448-450)gCg>gTg		ecotropic viral integration site 2A		G	,VAL/ALA,,VAL/ALA	2,4404	4.2+/-10.8	0,2,2201	123.0	123.0	123.0		,449,,380	-0.6	1.0	17	dbSNP_134	123	0,8600		0,0,4300	yes	intron,missense,intron,missense	EVI2A,NF1	NM_000267.3,NM_001003927.2,NM_001042492.2,NM_014210.3	,64,,64	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,benign,,benign	,150/260,,127/237	29645652	2,13004	2203	4300	6503	SO:0001583	missense	2123					integral to membrane	transmembrane receptor activity	g.chr17:29645652G>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.380C>T	17.37:g.29645652G>A	ENSP00000420557:p.Ala127Val					NF1_ENST00000581113.2_Intron|CTD-2370N5.3_ENST00000578584.1_Silent_p.C66C|EVI2A_ENST00000462804.2_Missense_Mutation_p.A127V|EVI2A_ENST00000461237.1_Missense_Mutation_p.A127V|NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron	p.A150V	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	785	-		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)	127					B2R5X2|B4DHX8	Missense_Mutation	SNP	ENST00000462804.2	37	c.449C>T	CCDS42293.1	.	.	.	.	.	.	.	.	.	.	G	11.96	1.794693	0.31777	4.54E-4	0.0	ENSG00000126860	ENST00000394755;ENST00000462804;ENST00000461237;ENST00000247270	.	.	.	5.71	-0.577	0.11727	.	0.306449	0.31909	N	0.006869	T	0.27454	0.0674	N	0.08118	0	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.03473	-1.1033	9	0.30854	T	0.27	.	10.2437	0.43328	0.1006:0.0:0.3206:0.5788	.	127;150	P22794;P22794-2	EVI2A_HUMAN;.	V	127;123;127;150	.	ENSP00000247270:A150V	A	-	2	0	EVI2A	26669778	0.978000	0.34361	0.957000	0.39632	0.939000	0.58152	1.120000	0.31271	-0.427000	0.07350	-2.232000	0.00291	GCG		0.358	EVI2A-001	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354491.3	NM_014210		8	836	0	0	0	1.12685e-05	0	8	836				
ZNF665	79788	broad.mit.edu	37	19	53669363	53669363	+	Missense_Mutation	SNP	C	C	T	rs201506528		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:53669363C>T	ENST00000600412.1	-	2	300	c.185G>A	c.(184-186)cGt>cAt	p.R62H	ZNF665_ENST00000396424.3_Missense_Mutation_p.R127H|CTD-2245F17.2_ENST00000600257.1_RNA			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	62					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)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		CCTTCTATCACGTTGAGCTCT	0.393													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20617	0.0		0.0	False		,,,				2504	0.0					ENST00000600412.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35						c.(184-186)cGt>cAt		zinc finger protein 665							117.0	123.0	121.0					19																	53669363		2088	4240	6328	SO:0001583	missense	79788				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53669363C>T		CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497		"""Zinc fingers, C2H2-type"", ""-"""	25885	protein-coding gene	gene with protein product							Standard	NM_024733		Approved	FLJ14345	uc010eqm.1	Q9H7R5		ENST00000600412.1:c.185G>A	19.37:g.53669363C>T	ENSP00000469154:p.Arg62His					ZNF665_ENST00000396424.3_Missense_Mutation_p.R127H	p.R62H			Q9H7R5	ZN665_HUMAN		GBM - Glioblastoma multiforme(134;0.0196)	2	300	-			62					A8K5T8	Missense_Mutation	SNP	ENST00000600412.1	37	c.185G>A		1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	0.005	-2.190842	0.00302	.	.	ENSG00000197497	ENST00000396424	T	0.08370	3.1	1.9	-3.79	0.04320	.	.	.	.	.	T	0.00998	0.0033	N	0.00040	-2.5	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.40440	-0.9563	9	0.02654	T	1	.	6.2359	0.20762	0.0:0.5693:0.1785:0.2522	.	127	Q9H7R5-2	.	H	127	ENSP00000379702:R127H	ENSP00000379702:R127H	R	-	2	0	ZNF665	58361175	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.134000	0.03228	-1.158000	0.02811	-0.382000	0.06688	CGT		0.393	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000464179.1	NM_024733		8	934	0	0	0	0.000157383	0	8	934				
UBE4A	9354	broad.mit.edu	37	11	118250189	118250189	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr11:118250189C>A	ENST00000431736.2	+	11	1693	c.1621C>A	c.(1621-1623)Caa>Aaa	p.Q541K	UBE4A_ENST00000252108.3_Missense_Mutation_p.Q534K|UBE4A_ENST00000545354.1_Missense_Mutation_p.Q6K					ubiquitination factor E4A											autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		AAAAATCAACCAAAATCTGCA	0.463																																						ENST00000252108.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56						c.(1600-1602)Caa>Aaa		ubiquitination factor E4A							86.0	89.0	88.0					11																	118250189		2200	4296	6496	SO:0001583	missense	9354				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding	g.chr11:118250189C>A	D50916	CCDS8396.1, CCDS55790.1	11q23.3	2013-01-28	2011-05-19					"""U-box domain containing"""	12499	protein-coding gene	gene with protein product		603753	"""ubiquitination factor E4A (homologous to yeast UFD2)"", ""ubiquitination factor E4A (UFD2 homolog, yeast)"""			10089879	Standard	NM_004788		Approved	UBOX2, UFD2, KIAA0126, E4	uc001psv.3	Q14139	OTTHUMG00000168100	ENST00000431736.2:c.1621C>A	11.37:g.118250189C>A	ENSP00000387362:p.Gln541Lys					UBE4A_ENST00000431736.2_Missense_Mutation_p.Q541K|UBE4A_ENST00000545354.1_Missense_Mutation_p.Q6K	p.Q534K	NM_001204077.1|NM_004788.3	NP_001191006.1|NP_004779.2	Q14139	UBE4A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)	11	1731	+	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	534						Missense_Mutation	SNP	ENST00000431736.2	37	c.1600C>A	CCDS8396.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.571993	0.86542	.	.	ENSG00000110344	ENST00000252108;ENST00000431736;ENST00000545354	T;T;T	0.42513	0.97;0.97;0.97	5.53	5.53	0.82687	Ubiquitin conjugation factor E4, core (1);	0.000000	0.85682	D	0.000000	T	0.50222	0.1603	M	0.71036	2.16	0.80722	D	1	P;P	0.42941	0.681;0.794	B;B	0.43950	0.437;0.31	T	0.44221	-0.9342	10	0.23891	T	0.37	-9.2888	19.4627	0.94924	0.0:1.0:0.0:0.0	.	534;541	Q14139;Q14139-2	UBE4A_HUMAN;.	K	534;541;6	ENSP00000252108:Q534K;ENSP00000387362:Q541K;ENSP00000438918:Q6K	ENSP00000252108:Q534K	Q	+	1	0	UBE4A	117755399	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.588000	0.87417	0.655000	0.94253	CAA		0.463	UBE4A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398143.1	NM_004788		10	488	1	0	6.40141e-05	6.40141e-05	0.00496729	10	488				
PRKCD	5580	broad.mit.edu	37	3	53222820	53222820	+	Missense_Mutation	SNP	C	C	A	rs149751382		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:53222820C>A	ENST00000394729.2	+	15	1828	c.1500C>A	c.(1498-1500)ttC>ttA	p.F500L	PRKCD_ENST00000330452.3_Missense_Mutation_p.F500L	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	500	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular senescence (GO:0090398)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-10 production (GO:0032613)|interleukin-12 production (GO:0032615)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|mRNA metabolic process (GO:0016071)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of filopodium assembly (GO:0051490)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil activation (GO:0042119)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of glucosylceramide catabolic process (GO:2000753)|positive regulation of phospholipid scramblase activity (GO:1900163)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of sphingomyelin catabolic process (GO:2000755)|positive regulation of superoxide anion generation (GO:0032930)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of receptor activity (GO:0010469)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|termination of signal transduction (GO:0023021)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|insulin receptor substrate binding (GO:0043560)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	Ingenol Mebutate(DB05013)|Tamoxifen(DB00675)	AGAACATATTCGGGGAGAGCC	0.597																																						ENST00000394729.2																			0				breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(1498-1500)ttC>ttA		protein kinase C, delta							92.0	93.0	93.0					3																	53222820		2203	4300	6503	SO:0001583	missense	5580				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding	g.chr3:53222820C>A		CCDS2870.1	3p21.31	2009-07-10			ENSG00000163932	ENSG00000163932	2.7.11.1		9399	protein-coding gene	gene with protein product		176977				8188219	Standard	NM_006254		Approved		uc003dgm.3	Q05655	OTTHUMG00000133659	ENST00000394729.2:c.1500C>A	3.37:g.53222820C>A	ENSP00000378217:p.Phe500Leu					PRKCD_ENST00000330452.3_Missense_Mutation_p.F500L	p.F500L	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	15	1828	+		Ovarian(412;0.0728)	500			Protein kinase.		B0KZ81|B2R834|Q15144|Q86XJ6	Missense_Mutation	SNP	ENST00000394729.2	37	c.1500C>A	CCDS2870.1	.	.	.	.	.	.	.	.	.	.	C	9.782	1.175623	0.21704	.	.	ENSG00000163932	ENST00000394729;ENST00000330452	T;T	0.63913	-0.07;-0.07	6.07	-12.1	0.00011	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.521528	0.23696	N	0.045465	T	0.22166	0.0534	N	0.03071	-0.42	0.30448	N	0.775557	B	0.09022	0.002	B	0.13407	0.009	T	0.40117	-0.9580	10	0.06365	T	0.9	.	11.6792	0.51448	0.0:0.4833:0.244:0.2727	.	500	Q05655	KPCD_HUMAN	L	500	ENSP00000378217:F500L;ENSP00000331602:F500L	ENSP00000331602:F500L	F	+	3	2	PRKCD	53197860	0.000000	0.05858	0.000000	0.03702	0.906000	0.53458	-1.526000	0.02229	-1.962000	0.01014	-0.302000	0.09304	TTC		0.597	PRKCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257818.1			8	317	1	0	0.000157383	0.000157383	0.00973904	8	317				
NBN	4683	broad.mit.edu	37	8	90965576	90965576	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr8:90965576G>T	ENST00000265433.3	-	11	1895	c.1741C>A	c.(1741-1743)Caa>Aaa	p.Q581K	NBN_ENST00000409330.1_Missense_Mutation_p.Q499K	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	581					blastocyst growth (GO:0001832)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|DNA damage checkpoint (GO:0000077)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intrinsic apoptotic signaling pathway (GO:0097193)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G2 DNA damage checkpoint (GO:0007095)|neuromuscular process controlling balance (GO:0050885)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|telomere maintenance (GO:0000723)	Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nuclear inclusion body (GO:0042405)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|replication fork (GO:0005657)|site of double-strand break (GO:0035861)	damaged DNA binding (GO:0003684)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TCCTGTTTTTGAACTTTCACA	0.348								Homologous recombination																														ENST00000265433.3																			0				autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						c.(1741-1743)Caa>Aaa	Homologous recombination	nibrin							315.0	311.0	312.0					8																	90965576		2203	4299	6502	SO:0001583	missense	4683				cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding	g.chr8:90965576G>T	AF058696	CCDS6249.1	8q21-q24	2014-09-17	2005-06-02	2005-06-02	ENSG00000104320	ENSG00000104320			7652	protein-coding gene	gene with protein product		602667	"""Nijmegen breakage syndrome 1 (nibrin)"""	NBS, NBS1		9590181, 9590180	Standard	XM_005250923		Approved	ATV, AT-V2, AT-V1	uc003yej.1	O60934	OTTHUMG00000153546	ENST00000265433.3:c.1741C>A	8.37:g.90965576G>T	ENSP00000265433:p.Gln581Lys					NBN_ENST00000409330.1_Missense_Mutation_p.Q499K	p.Q581K	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0344)		11	1895	-			581					B2R626|B2RNC5|O60672|Q32NF7|Q53FM6|Q63HR6|Q7LDM2	Missense_Mutation	SNP	ENST00000265433.3	37	c.1741C>A	CCDS6249.1	.	.	.	.	.	.	.	.	.	.	G	7.975	0.749994	0.15778	.	.	ENSG00000104320	ENST00000265433;ENST00000409330	T;T	0.58060	1.99;0.36	5.29	0.895	0.19247	.	1.667470	0.02817	N	0.125095	T	0.38026	0.1025	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.17349	-1.0372	10	0.12766	T	0.61	-0.018	9.8904	0.41288	0.0:0.5366:0.322:0.1413	.	581;581	A6H8Y5;O60934	.;NBN_HUMAN	K	581;499	ENSP00000265433:Q581K;ENSP00000386924:Q499K	ENSP00000265433:Q581K	Q	-	1	0	NBN	91034752	0.001000	0.12720	0.261000	0.24466	0.911000	0.54048	0.129000	0.15830	0.139000	0.18822	0.650000	0.86243	CAA		0.348	NBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331583.3	NM_001024688		16	830	1	0	1.33834e-09	9.7654e-05	1.9472e-07	16	830				
FLG2	388698	broad.mit.edu	37	1	152324334	152324334	+	Silent	SNP	G	G	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:152324334G>A	ENST00000388718.5	-	3	6000	c.5928C>T	c.(5926-5928)caC>caT	p.H1976H	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1976					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGCTTGACCGTGAGTGTGTC	0.527																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(5926-5928)caC>caT		filaggrin family member 2							371.0	343.0	352.0					1																	152324334		2203	4300	6503	SO:0001819	synonymous_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152324334G>A	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.5928C>T	1.37:g.152324334G>A						FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.H1976H	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6000	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1976					Q9H4U1	Silent	SNP	ENST00000388718.5	37	c.5928C>T	CCDS30861.1																																																																																				0.527	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		9	1340	0	0	0	1.23904e-05	0	9	1340				
PPP1R2	5504	broad.mit.edu	37	3	195245823	195245823	+	Nonsense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:195245823G>T	ENST00000328432.3	-	5	923	c.563C>A	c.(562-564)tCa>tAa	p.S188*		NM_006241.4	NP_006232.1	P41236	IPP2_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 2	188					generation of precursor metabolites and energy (GO:0006091)|glycogen metabolic process (GO:0005977)|negative regulation of catalytic activity (GO:0043086)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of signal transduction (GO:0009966)		protein serine/threonine phosphatase inhibitor activity (GO:0004865)			endometrium(2)|kidney(1)|large_intestine(1)|urinary_tract(2)	6	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)		Epithelial(36;2.64e-22)|all cancers(36;2.69e-20)|OV - Ovarian serous cystadenocarcinoma(49;3.52e-19)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;9.55e-05)		ACCTTGATTTGATTCTTCCGT	0.338																																						ENST00000328432.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|urinary_tract(2)	6						c.(562-564)tCa>tAa		protein phosphatase 1, regulatory (inhibitor) subunit 2							232.0	232.0	232.0					3																	195245823		2203	4300	6503	SO:0001587	stop_gained	5504				glycogen metabolic process|regulation of phosphoprotein phosphatase activity|regulation of signal transduction		protein binding|protein serine/threonine phosphatase inhibitor activity	g.chr3:195245823G>T	U68111	CCDS3309.1	3q29	2012-04-17			ENSG00000184203	ENSG00000184203	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9288	protein-coding gene	gene with protein product		601792				9126490, 8119416	Standard	XM_006713682		Approved	IPP2	uc003fup.3	P41236	OTTHUMG00000155887	ENST00000328432.3:c.563C>A	3.37:g.195245823G>T	ENSP00000328178:p.Ser188*						p.S188*	NM_006241.4	NP_006232.1	P41236	IPP2_HUMAN	Epithelial(36;2.64e-22)|all cancers(36;2.69e-20)|OV - Ovarian serous cystadenocarcinoma(49;3.52e-19)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;9.55e-05)	5	923	-	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)		188						Nonsense_Mutation	SNP	ENST00000328432.3	37	c.563C>A	CCDS3309.1	.	.	.	.	.	.	.	.	.	.	G	37	6.356746	0.97502	.	.	ENSG00000184203	ENST00000328432;ENST00000438848	.	.	.	4.93	4.93	0.64822	.	0.303685	0.31415	N	0.007686	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.375	0.66867	0.0:0.0:1.0:0.0	.	.	.	.	X	188;162	.	ENSP00000328178:S188X	S	-	2	0	PPP1R2	196727112	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	2.090000	0.41682	2.663000	0.90544	0.467000	0.42956	TCA		0.338	PPP1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342133.1	NM_006241		13	550	1	0	2.31682e-05	2.31682e-05	0.00220351	13	550				
SPAG17	200162	broad.mit.edu	37	1	118598506	118598506	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:118598506G>T	ENST00000336338.5	-	19	2637	c.2572C>A	c.(2572-2574)Caa>Aaa	p.Q858K		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	858						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		ATCCAATCTTGAATAGATTTT	0.323																																						ENST00000336338.5																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123						c.(2572-2574)Caa>Aaa		sperm associated antigen 17							99.0	103.0	101.0					1																	118598506		2203	4300	6503	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118598506G>T		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.2572C>A	1.37:g.118598506G>T	ENSP00000337804:p.Gln858Lys						p.Q858K	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	19	2637	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	858					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.2572C>A	CCDS899.1	.	.	.	.	.	.	.	.	.	.	G	11.99	1.803426	0.31869	.	.	ENSG00000155761	ENST00000336338	T	0.29655	1.56	5.35	3.41	0.39046	.	0.697933	0.14968	N	0.287983	T	0.16171	0.0389	L	0.47716	1.5	0.21878	N	0.999499	P	0.40180	0.705	B	0.41510	0.359	T	0.03993	-1.0986	10	0.45353	T	0.12	.	13.3002	0.60321	0.0:0.4907:0.5093:0.0	.	858	Q6Q759	SPG17_HUMAN	K	858	ENSP00000337804:Q858K	ENSP00000337804:Q858K	Q	-	1	0	SPAG17	118400029	1.000000	0.71417	1.000000	0.80357	0.500000	0.33767	1.567000	0.36407	0.770000	0.33336	0.585000	0.79938	CAA		0.323	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		12	842	1	0	0.00010058	0.00010058	0.0072096	12	842				
MSH6	2956	broad.mit.edu	37	2	48032777	48032777	+	Nonsense_Mutation	SNP	G	G	T	rs63751328		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:48032777G>T	ENST00000234420.5	+	7	3729	c.3577G>T	c.(3577-3579)Gaa>Taa	p.E1193*	MSH6_ENST00000540021.1_Nonsense_Mutation_p.E1063*|MSH6_ENST00000538136.1_Nonsense_Mutation_p.E891*|FBXO11_ENST00000405808.1_Intron	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	1193			E -> K (found in an endometrial cancer sample; displays marked impairment of heterodimerization with MSH2 and of in vitro mismatch repair capacity). {ECO:0000269|PubMed:15354210}.		ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ATTTTTTGTTGAATTAAGTGA	0.303			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000234420.4			yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	"""Mis, N, F, S"""	mutS homolog 6 (E. coli)			E		"""colorectal, endometrial, ovarian"""	colorectal		2	Whole gene deletion(2)	p.0?(2)	haematopoietic_and_lymphoid_tissue(2)	breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229	GRCh37	CM042751	MSH6	M	rs63751328	c.(3577-3579)Gaa>Taa	Mismatch excision repair (MMR)	mutS homolog 6							76.0	79.0	78.0					2																	48032777		2203	4300	6503	SO:0001587	stop_gained	2956	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	g.chr2:48032777G>T	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"""mutS (E. coli) homolog 6"", ""mutS homolog 6 (E. coli)"""	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.3577G>T	2.37:g.48032777G>T	ENSP00000234420:p.Glu1193*					FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Nonsense_Mutation_p.E1063*|MSH6_ENST00000538136.1_Nonsense_Mutation_p.E891*	p.E1193*	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		7	3729	+		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	1193		E -> K (found in an endometrial cancer sample; displays marked impairment of heterodimerization with MSH2 and of in vitro mismatch repair capacity).			B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Nonsense_Mutation	SNP	ENST00000234420.5	37	c.3577G>T	CCDS1836.1	.	.	.	.	.	.	.	.	.	.	G	47	13.487868	0.99745	.	.	ENSG00000116062	ENST00000234420;ENST00000543270;ENST00000540021;ENST00000538136	.	.	.	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-20.4028	18.6051	0.91263	0.0:0.0:1.0:0.0	.	.	.	.	X	1193;159;1063;891	.	ENSP00000234420:E1193X	E	+	1	0	MSH6	47886281	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.477000	0.97925	2.622000	0.88805	0.462000	0.41574	GAA		0.303	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	NM_000179		14	708	1	0	7.07596e-05	7.07596e-05	0.00545608	14	708				
ORAI3	93129	broad.mit.edu	37	16	30960680	30960680	+	Missense_Mutation	SNP	T	T	G			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr16:30960680T>G	ENST00000318663.4	+	1	294	c.70T>G	c.(70-72)Tcg>Gcg	p.S24A	ORAI3_ENST00000566237.1_Missense_Mutation_p.S24A|AC135048.13_ENST00000566056.1_RNA|ORAI3_ENST00000562699.1_Missense_Mutation_p.S24A	NM_152288.2	NP_689501.1	Q9BRQ5	ORAI3_HUMAN	ORAI calcium release-activated calcium modulator 3	24					store-operated calcium entry (GO:0002115)	integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6						CCCTGCAGGCTCGGCCACGTA	0.736																																						ENST00000318663.4																			0				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6						c.(70-72)Tcg>Gcg		ORAI calcium release-activated calcium modulator 3							5.0	7.0	6.0					16																	30960680		1997	4021	6018	SO:0001583	missense	93129					integral to membrane	protein binding	g.chr16:30960680T>G	BC006126	CCDS10697.1	16p11.2	2007-08-14	2007-08-14	2007-08-14	ENSG00000175938	ENSG00000175938		"""ORAI calcium release-activated calcium modulators"""	28185	protein-coding gene	gene with protein product		610930	"""transmembrane protein 142C"""	TMEM142C		16582901	Standard	NM_152288		Approved	MGC13024	uc002eac.3	Q9BRQ5	OTTHUMG00000132409	ENST00000318663.4:c.70T>G	16.37:g.30960680T>G	ENSP00000322249:p.Ser24Ala					ORAI3_ENST00000566237.1_Missense_Mutation_p.S24A|AC135048.13_ENST00000566056.1_RNA|ORAI3_ENST00000562699.1_Missense_Mutation_p.S24A	p.S24A	NM_152288.2	NP_689501.1	Q9BRQ5	ORAI3_HUMAN			1	294	+			24					Q96BI8	Missense_Mutation	SNP	ENST00000318663.4	37	c.70T>G	CCDS10697.1	.	.	.	.	.	.	.	.	.	.	T	13.94	2.385910	0.42308	.	.	ENSG00000175938	ENST00000318663;ENST00000420438	T	0.30981	1.51	5.34	4.22	0.49857	.	0.000000	0.43416	D	0.000562	T	0.15609	0.0376	N	0.19112	0.55	0.29807	N	0.831965	B	0.16603	0.018	B	0.16722	0.016	T	0.24404	-1.0161	10	0.10902	T	0.67	-5.3366	5.6272	0.17488	0.1518:0.0818:0.0:0.7664	.	24	Q9BRQ5	ORAI3_HUMAN	A	24	ENSP00000322249:S24A	ENSP00000322249:S24A	S	+	1	0	ORAI3	30868181	0.003000	0.15002	0.999000	0.59377	0.858000	0.48976	0.638000	0.24674	0.816000	0.34421	0.402000	0.26972	TCG		0.736	ORAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255545.20	NM_152288		6	18	0	0	0	8.12818e-05	0	6	18				
NGLY1	55768	broad.mit.edu	37	3	25770651	25770651	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:25770651G>T	ENST00000280700.5	-	10	1744	c.1584C>A	c.(1582-1584)ttC>ttA	p.F528L	NGLY1_ENST00000467224.1_5'UTR|NGLY1_ENST00000396649.3_Missense_Mutation_p.F528L|NGLY1_ENST00000417874.2_Missense_Mutation_p.F486L|NGLY1_ENST00000428257.1_Missense_Mutation_p.F510L|NGLY1_ENST00000422724.2_3'UTR	NM_018297.3	NP_060767.2	Q96IV0	NGLY1_HUMAN	N-glycanase 1	528	PAW. {ECO:0000255|PROSITE- ProRule:PRU00731}.				glycoprotein catabolic process (GO:0006516)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity (GO:0000224)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						CAACTTTTCTGAATATAGATT	0.313																																						ENST00000428257.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						c.(1528-1530)ttC>ttA		N-glycanase 1							128.0	119.0	122.0					3																	25770651		2202	4299	6501	SO:0001583	missense	55768				glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding	g.chr3:25770651G>T	AF250924	CCDS33719.1, CCDS46777.1, CCDS46778.1, CCDS46779.1	3p23	2006-08-30			ENSG00000151092	ENSG00000151092			17646	protein-coding gene	gene with protein product		610661					Standard	NM_018297		Approved	FLJ11005, PNG1	uc003cdl.3	Q96IV0	OTTHUMG00000155600	ENST00000280700.5:c.1584C>A	3.37:g.25770651G>T	ENSP00000280700:p.Phe528Leu					NGLY1_ENST00000467224.1_5'UTR|NGLY1_ENST00000280700.5_Missense_Mutation_p.F528L|NGLY1_ENST00000422724.2_3'UTR|NGLY1_ENST00000417874.2_Missense_Mutation_p.F486L|NGLY1_ENST00000396649.3_Missense_Mutation_p.F528L	p.F510L	NM_001145293.1	NP_001138765.1	Q96IV0	NGLY1_HUMAN			10	1637	-			528			PAW.		B4DJE9|Q59FB1|Q6PJD8|Q9BVR8|Q9NR70	Missense_Mutation	SNP	ENST00000280700.5	37	c.1530C>A	CCDS33719.1	.	.	.	.	.	.	.	.	.	.	G	19.60	3.857742	0.71834	.	.	ENSG00000151092	ENST00000428257;ENST00000280700;ENST00000396649;ENST00000308710;ENST00000417874	D;D;D;D	0.95918	-3.85;-3.85;-3.85;-3.85	5.82	4.0	0.46444	Peptide N glycanase, PAW domain (3);Galactose-binding domain-like (1);	0.199148	0.53938	D	0.000042	D	0.96706	0.8925	M	0.82193	2.58	0.80722	D	1	D;D;P;D	0.69078	0.997;0.966;0.937;0.993	P;P;P;P	0.61397	0.888;0.466;0.814;0.618	D	0.96101	0.9069	10	0.59425	D	0.04	-7.2391	7.6939	0.28583	0.1442:0.3228:0.533:0.0	.	486;510;528;528	B4DJE9;Q96IV0-2;Q96IV0-3;Q96IV0	.;.;.;NGLY1_HUMAN	L	510;528;528;507;486	ENSP00000387430:F510L;ENSP00000280700:F528L;ENSP00000307980:F507L;ENSP00000389888:F486L	ENSP00000280700:F528L	F	-	3	2	NGLY1	25745655	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.762000	0.47597	1.439000	0.47511	0.561000	0.74099	TTC		0.313	NGLY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340832.2			20	682	1	0	0.000117367	0.000117367	0.00838831	20	682				
ST6GAL1	6480	broad.mit.edu	37	3	186791961	186791961	+	Silent	SNP	G	G	T	rs369650964		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:186791961G>T	ENST00000169298.3	+	7	1493	c.819G>T	c.(817-819)ccG>ccT	p.P273P	ST6GAL1_ENST00000457772.2_Silent_p.P42P|ST6GAL1_ENST00000448044.1_Silent_p.P273P	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1	273					cellular protein metabolic process (GO:0044267)|humoral immune response (GO:0006959)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)|sialyltransferase activity (GO:0008373)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		ACCAGAATCCGGATTATAATT	0.483																																						ENST00000169298.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7						c.(817-819)ccG>ccT		ST6 beta-galactosamide alpha-2,6-sialyltranferase 1							95.0	100.0	98.0					3																	186791961		2203	4300	6503	SO:0001819	synonymous_variant	6480				humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	g.chr3:186791961G>T	X62822	CCDS3285.1, CCDS46973.1	3q27-q28	2013-02-26	2003-01-14	2005-02-07	ENSG00000073849	ENSG00000073849	2.4.99.1		10860	protein-coding gene	gene with protein product	"""ST6Gal I"""	109675	"""sialyltransferase 1 (beta-galactoside alpha-2,6-sialytransferase)"""	SIAT1		2408023	Standard	NM_003032		Approved		uc003frd.3	P15907	OTTHUMG00000156500	ENST00000169298.3:c.819G>T	3.37:g.186791961G>T						ST6GAL1_ENST00000457772.2_Silent_p.P42P|ST6GAL1_ENST00000448044.1_Silent_p.P273P	p.P273P	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)	7	1493	+	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		273					A8KA14|B2R513|D3DNV3	Silent	SNP	ENST00000169298.3	37	c.819G>T	CCDS3285.1																																																																																				0.483	ST6GAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344399.1	NM_173216		9	648	1	0	3.07112e-06	6.40141e-05	0.00037162	9	648				
DARS	1615	broad.mit.edu	37	2	136673918	136673918	+	Silent	SNP	C	C	A	rs375578989		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:136673918C>A	ENST00000264161.4	-	11	1199	c.984G>T	c.(982-984)gtG>gtT	p.V328V	DARS_ENST00000537273.1_Silent_p.V228V	NM_001349.2	NP_001340.2	P14868	SYDC_HUMAN	aspartyl-tRNA synthetase	328					aspartyl-tRNA aminoacylation (GO:0006422)|gene expression (GO:0010467)|protein complex assembly (GO:0006461)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacylase activity (GO:0004046)|aspartate-tRNA ligase activity (GO:0004815)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15				BRCA - Breast invasive adenocarcinoma(221;0.168)	L-Aspartic Acid(DB00128)	ACTGTTTATTCACTGTTTGAA	0.368																																						ENST00000264161.4																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15						c.(982-984)gtG>gtT		aspartyl-tRNA synthetase	L-Aspartic Acid(DB00128)						127.0	125.0	126.0					2																	136673918		2203	4300	6503	SO:0001819	synonymous_variant	1615				aspartyl-tRNA aminoacylation|protein complex assembly	cytosol|nuclear membrane|plasma membrane|soluble fraction	aminoacylase activity|aspartate-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding	g.chr2:136673918C>A	J05032	CCDS2180.1	2q21.3	2011-07-01			ENSG00000115866	ENSG00000115866	6.1.1.12	"""Aminoacyl tRNA synthetases / Class II"""	2678	protein-coding gene	gene with protein product	"""aspartate tRNA ligase 1, cytoplasmic"""	603084				2674137	Standard	NM_001349		Approved		uc002tux.1	P14868	OTTHUMG00000131741	ENST00000264161.4:c.984G>T	2.37:g.136673918C>A						DARS_ENST00000537273.1_Silent_p.V228V	p.V328V	NM_001349.2	NP_001340.2	P14868	SYDC_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.168)	11	1199	-			328					A8K3J2|D3DP77|Q2TNI3|Q32Q69|Q53HV4|Q53YC5|Q68CR9|Q9BW52	Silent	SNP	ENST00000264161.4	37	c.984G>T	CCDS2180.1																																																																																				0.368	DARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254660.5	NM_001349		11	766	1	0	6.40141e-05	6.40141e-05	0.00496729	11	766				
PDE4DIP	9659	broad.mit.edu	37	1	144879561	144879561	+	Missense_Mutation	SNP	A	A	G			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:144879561A>G	ENST00000369354.3	-	27	4078	c.3889T>C	c.(3889-3891)Tgt>Cgt	p.C1297R	PDE4DIP_ENST00000524974.1_5'UTR|RP4-791M13.5_ENST00000531288.1_RNA|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.C1297R|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.C1253R|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.C1433R|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.C1433R|AL138796.1_ENST00000582173.1_RNA			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1297					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.C1297R(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGCTCCTCACACTCTGAAAAA	0.502			T	PDGFRB	MPD																																	ENST00000369359.4				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		2	Substitution - Missense(2)	p.C1297R(2)	lung(2)	NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(4297-4299)Tgt>Cgt		phosphodiesterase 4D interacting protein							46.0	49.0	48.0					1																	144879561		2203	4290	6493	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144879561A>G	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.3889T>C	1.37:g.144879561A>G	ENSP00000358360:p.Cys1297Arg					PDE4DIP_ENST00000530740.1_Missense_Mutation_p.C1433R|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.C1253R|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.C1297R|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.C1297R	p.C1433R			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	30	4335	-			1297					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.4297T>C	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	A	16.19	3.052829	0.55218	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T;T	0.01665	4.7;4.79;4.79;4.8;4.8	5.79	5.79	0.91817	.	.	.	.	.	T	0.04048	0.0113	L	0.57536	1.79	0.80722	D	1	D;D	0.71674	0.998;0.96	D;B	0.67548	0.952;0.421	T	0.51568	-0.8689	9	0.44086	T	0.13	.	14.0875	0.64968	1.0:0.0:0.0:0.0	.	1253;1297	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	R	1253;1297;1297;1433;1433	ENSP00000327209:C1253R;ENSP00000358360:C1297R;ENSP00000358363:C1297R;ENSP00000435654:C1433R;ENSP00000358366:C1433R	ENSP00000327209:C1253R	C	-	1	0	PDE4DIP	143590918	1.000000	0.71417	1.000000	0.80357	0.718000	0.41266	5.716000	0.68437	2.207000	0.71202	0.533000	0.62120	TGT		0.502	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		8	559	0	0	0	4.16121e-05	0	8	559				
AHNAK	79026	broad.mit.edu	37	11	62292931	62292931	+	Silent	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr11:62292931G>T	ENST00000378024.4	-	5	9232	c.8958C>A	c.(8956-8958)ccC>ccA	p.P2986P	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2986					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTTCCACTTTGGGCAGAGAAA	0.537																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(8956-8958)ccC>ccA		AHNAK nucleoprotein							141.0	150.0	147.0					11																	62292931		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62292931G>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.8958C>A	11.37:g.62292931G>T						AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.P2986P	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	9232	-		Melanoma(852;0.155)	2986					A1A586	Silent	SNP	ENST00000378024.4	37	c.8958C>A	CCDS31584.1																																																																																				0.537	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		12	1232	1	0	6.40141e-05	6.40141e-05	0.00496729	12	1232				
COX7A2	1347	broad.mit.edu	37	6	75950955	75950955	+	Silent	SNP	C	C	A	rs139079443	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr6:75950955C>A	ENST00000230459.4	-	2	238	c.45G>T	c.(43-45)acG>acT	p.T15T	COX7A2_ENST00000370089.2_Silent_p.T47T|COX7A2_ENST00000370081.2_Silent_p.T47T|COX7A2_ENST00000460985.1_Intron|COX7A2_ENST00000472311.2_Silent_p.T15T|COX7A2_ENST00000509698.1_Silent_p.T15T	NM_001865.3	NP_001856.2	P14406	CX7A2_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 2 (liver)	15						extracellular vesicular exosome (GO:0070062)|mitochondrial respiratory chain (GO:0005746)	cytochrome-c oxidase activity (GO:0004129)	p.T15T(1)		kidney(2)|lung(1)	3						CAGTGCTTATCGTCCTCTGCC	0.358																																						ENST00000370081.2																			1	Substitution - coding silent(1)	p.T15T(1)	lung(1)	kidney(2)|lung(1)	3						c.(139-141)acG>acT		cytochrome c oxidase subunit VIIa polypeptide 2 (liver)							89.0	101.0	97.0					6																	75950955		2203	4300	6503	SO:0001819	synonymous_variant	1347					mitochondrial respiratory chain	cytochrome-c oxidase activity|electron carrier activity	g.chr6:75950955C>A	X15822	CCDS34486.1, CCDS34486.2	6q14.1	2011-07-04			ENSG00000112695	ENSG00000112695	1.9.3.1	"""Mitochondrial respiratory chain complex / Complex IV"""	2288	protein-coding gene	gene with protein product		123996				1327965, 9202412	Standard	NM_001865		Approved	COXVIIa-L, COX7AL	uc003phv.2	P14406	OTTHUMG00000015049	ENST00000230459.4:c.45G>T	6.37:g.75950955C>A						COX7A2_ENST00000370089.2_Silent_p.T47T|COX7A2_ENST00000509698.1_Silent_p.T15T|COX7A2_ENST00000472311.2_Silent_p.T15T|COX7A2_ENST00000230459.4_Silent_p.T15T|COX7A2_ENST00000460985.1_Intron	p.T47T			P14406	CX7A2_HUMAN			3	451	-			15					B2R5E1|Q3MIH5|Q5TF59|Q6FGI2	Silent	SNP	ENST00000230459.4	37	c.141G>T																																																																																					0.358	COX7A2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001865		11	846	1	0	1.58986e-06	3.86212e-05	0.000199287	11	846				
CRELD1	78987	broad.mit.edu	37	3	9982708	9982708	+	Missense_Mutation	SNP	C	C	G	rs138336691	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:9982708C>G	ENST00000383811.3	+	5	1234	c.635C>G	c.(634-636)tCg>tGg	p.S212W	CRELD1_ENST00000397170.3_Missense_Mutation_p.S212W|CRELD1_ENST00000326434.5_Missense_Mutation_p.S212W|CRELD1_ENST00000452070.1_Missense_Mutation_p.S212W	NM_015513.4	NP_056328	Q96HD1	CREL1_HUMAN	cysteine-rich with EGF-like domains 1	212					cardiac septum development (GO:0003279)|endocardial cushion development (GO:0003197)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						CTGGTATGTTCGGGTAGGTAG	0.632																																						ENST00000383811.3																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						c.(634-636)tCg>tGg		cysteine-rich with EGF-like domains 1							74.0	73.0	73.0					3																	9982708		2203	4300	6503	SO:0001583	missense	78987				cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding	g.chr3:9982708C>G	AF452623	CCDS2593.1, CCDS33693.1	3p25.3	2005-12-08	2004-02-13		ENSG00000163703	ENSG00000163703			14630	protein-coding gene	gene with protein product		607170	"""atrioventricular septal defect 2"""	AVSD2		10922384, 12137942	Standard	NM_015513		Approved		uc003buf.3	Q96HD1	OTTHUMG00000128653	ENST00000383811.3:c.635C>G	3.37:g.9982708C>G	ENSP00000373322:p.Ser212Trp					CRELD1_ENST00000397170.3_Missense_Mutation_p.S212W|CRELD1_ENST00000326434.5_Missense_Mutation_p.S212W|CRELD1_ENST00000452070.1_Missense_Mutation_p.S212W	p.S212W	NM_015513.4	NP_056328.2	Q96HD1	CREL1_HUMAN			5	1234	+			212					A8MX90|B2RAA9|Q6I9X5|Q8NFT4|Q9Y409	Missense_Mutation	SNP	ENST00000383811.3	37	c.635C>G	CCDS2593.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.448710	0.63178	.	.	ENSG00000163703	ENST00000397170;ENST00000383811;ENST00000452070;ENST00000326434	D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.3	5.33	3.34	0.38264	EGF-like, laminin (1);Growth factor, receptor (1);	0.236302	0.35436	N	0.003208	D	0.88451	0.6440	L	0.49571	1.57	0.58432	D	0.999999	D;D	0.69078	0.979;0.997	B;P	0.60682	0.435;0.878	D	0.86591	0.1860	9	.	.	.	.	9.4454	0.38695	0.1529:0.7599:0.0:0.0871	.	212;212	Q96HD1;Q96HD1-2	CREL1_HUMAN;.	W	212	ENSP00000380355:S212W;ENSP00000373322:S212W;ENSP00000393643:S212W;ENSP00000321856:S212W	.	S	+	2	0	CRELD1	9957708	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.517000	0.53443	1.252000	0.44001	0.561000	0.74099	TCG		0.632	CRELD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250533.1	NM_015513		5	346	0	0	0	1.23904e-05	0	5	346				
POLR2A	5430	broad.mit.edu	37	17	7405902	7405902	+	Missense_Mutation	SNP	C	C	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr17:7405902C>T	ENST00000322644.6	+	16	3037	c.2638C>T	c.(2638-2640)Cgg>Tgg	p.R880W		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	880					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CGCGACTGTGCGGAACTCCAT	0.567																																						ENST00000322644.6																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50						c.(2638-2640)Cgg>Tgg		polymerase (RNA) II (DNA directed) polypeptide A, 220kDa							102.0	89.0	93.0					17																	7405902		2203	4300	6503	SO:0001583	missense	5430				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	g.chr17:7405902C>T			17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"""RNA polymerase subunits"""	9187	protein-coding gene	gene with protein product	"""DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit"", ""RNA polymerase II subunit B1"""	180660	"""polymerase (RNA) II (DNA directed) polypeptide A (220kD)"""	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.2638C>T	17.37:g.7405902C>T	ENSP00000314949:p.Arg880Trp						p.R880W	NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN			16	3037	+		Prostate(122;0.173)	880					A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	ENST00000322644.6	37	c.2638C>T	CCDS32548.1	.	.	.	.	.	.	.	.	.	.	C	16.86	3.240160	0.58995	.	.	ENSG00000181222	ENST00000535204;ENST00000322644	T	0.74209	-0.82	5.82	0.84	0.18912	RNA polymerase Rpb1, domain 5 (1);	0.000000	0.85682	D	0.000000	D	0.91633	0.7356	H	0.99261	4.49	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94164	0.7417	10	0.87932	D	0	-8.9938	16.4899	0.84198	0.586:0.414:0.0:0.0	.	880	P24928	RPB1_HUMAN	W	836;880	ENSP00000314949:R880W	ENSP00000314949:R880W	R	+	1	2	SLC35G6	7346626	0.997000	0.39634	0.583000	0.28640	0.434000	0.31775	0.766000	0.26560	-0.013000	0.14199	-0.808000	0.03180	CGG		0.567	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		6	366	0	0	0	3.59834e-05	0	6	366				
ZNF287	57336	broad.mit.edu	37	17	16456304	16456304	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr17:16456304C>A	ENST00000395824.1	-	6	1769	c.1152G>T	c.(1150-1152)ctG>ctT	p.L384L	ZNF287_ENST00000395825.3_Silent_p.L384L			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	377					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		TTTGGTGTTTCAGGAGGGATG	0.393																																						ENST00000395824.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20						c.(1150-1152)ctG>ctT		zinc finger protein 287							158.0	148.0	151.0					17																	16456304		2203	4300	6503	SO:0001819	synonymous_variant	57336				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:16456304C>A	AF217227	CCDS11179.2	17p11.2	2013-01-09			ENSG00000141040	ENSG00000141040		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13502	protein-coding gene	gene with protein product							Standard	NM_020653		Approved	ZKSCAN13, ZSCAN45	uc002gqi.2	Q9HBT7	OTTHUMG00000058993	ENST00000395824.1:c.1152G>T	17.37:g.16456304C>A						ZNF287_ENST00000395825.3_Silent_p.L384L	p.L384L			Q9HBT7	ZN287_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.083)	6	1769	-			377					Q6IAG1	Silent	SNP	ENST00000395824.1	37	c.1152G>T	CCDS11179.2																																																																																				0.393	ZNF287-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130504.1			10	726	1	0	6.40141e-05	6.40141e-05	0.00496729	10	726				
LRRC37A4P	55073	broad.mit.edu	37	17	43587497	43587497	+	RNA	SNP	T	T	G			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr17:43587497T>G	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		ttgaacctggtaagtggaggt	0.483																																						ENST00000253803.2																			0																																																			0							g.chr17:43587497T>G	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587497T>G						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.483	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		5	81	0	0	0	3.59834e-05	0	5	81				
KRTAP5-7	440050	broad.mit.edu	37	11	71238436	71238436	+	Silent	SNP	A	A	C	rs572895813		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr11:71238436A>C	ENST00000398536.4	+	1	124	c.90A>C	c.(88-90)ggA>ggC	p.G30G		NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN	keratin associated protein 5-7	30						keratin filament (GO:0045095)		p.G30G(1)		breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						GCTGTGGGGGATGTGGCTCCA	0.677													a|||	1	0.000199681	0.0	0.0	5008	,	,		10691	0.0		0.0	False		,,,				2504	0.001					ENST00000398536.4																			1	Substitution - coding silent(1)	p.G30G(1)	kidney(1)	breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						c.(88-90)ggA>ggC		keratin associated protein 5-7							69.0	89.0	82.0					11																	71238436		2200	4291	6491	SO:0001819	synonymous_variant	440050					keratin filament		g.chr11:71238436A>C	AB126076	CCDS41682.1	11q13.4	2008-02-05			ENSG00000244411	ENSG00000244411		"""Keratin associated proteins"""	23602	protein-coding gene	gene with protein product						15144888	Standard	NM_001012503		Approved	KRTAP5.7, KRTAP5-3	uc001oqq.1	Q6L8G8	OTTHUMG00000057570	ENST00000398536.4:c.90A>C	11.37:g.71238436A>C							p.G30G	NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN			1	124	+			30					B2RNM3|Q701N5	Silent	SNP	ENST00000398536.4	37	c.90A>C	CCDS41682.1																																																																																				0.677	KRTAP5-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127953.1			8	936	0	0	0	0.00010058	0	8	936				
SLC9C1	285335	broad.mit.edu	37	3	111999618	111999618	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:111999618C>A	ENST00000305815.5	-	3	353	c.101G>T	c.(100-102)cGg>cTg	p.R34L	SLC9C1_ENST00000467397.1_5'UTR|SLC9C1_ENST00000487372.1_Missense_Mutation_p.R34L	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	34					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										TTCCAAGTGCCGGTTCAAAAA	0.323																																						ENST00000305815.5																			0											c.(100-102)cGg>cTg		solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1							60.0	63.0	62.0					3																	111999618		2203	4300	6503	SO:0001583	missense	285335				cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity	g.chr3:111999618C>A	AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"""Solute carriers"""	31401	protein-coding gene	gene with protein product	"""sperm-NHE"""	612738	"""solute carrier family 9, isoform 10"", ""solute carrier family 9, member 10"""	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.101G>T	3.37:g.111999618C>A	ENSP00000306627:p.Arg34Leu					SLC9C1_ENST00000467397.1_5'UTR|SLC9C1_ENST00000487372.1_Missense_Mutation_p.R34L	p.R34L	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN			3	353	-			34					Q6ZRP4|Q7RTP2	Missense_Mutation	SNP	ENST00000305815.5	37	c.101G>T	CCDS33817.1	.	.	.	.	.	.	.	.	.	.	C	1.595	-0.528154	0.04112	.	.	ENSG00000172139	ENST00000305815;ENST00000487372	T;T	0.78816	-1.21;-1.14	5.65	0.661	0.17874	Cation/H+ exchanger (1);	1.087840	0.07143	N	0.847775	T	0.45135	0.1327	N	0.02011	-0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.33752	-0.9856	10	0.11182	T	0.66	.	0.8922	0.01256	0.5032:0.1675:0.1715:0.1578	.	34;34	Q4G0N8-2;Q4G0N8	.;S9A10_HUMAN	L	34	ENSP00000306627:R34L;ENSP00000420688:R34L	ENSP00000306627:R34L	R	-	2	0	SLC9A10	113482308	0.213000	0.23551	0.447000	0.26932	0.947000	0.59692	0.504000	0.22626	0.094000	0.17404	-0.513000	0.04457	CGG		0.323	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1	NM_183061		9	525	1	0	6.40141e-05	6.40141e-05	0.00496729	9	525				
NAT8	9027	broad.mit.edu	37	2	73868603	73868603	+	Silent	SNP	G	G	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:73868603G>A	ENST00000272425.3	-	2	302	c.153C>T	c.(151-153)ctC>ctT	p.L51L		NM_003960.3|NM_016347.2	NP_003951.3|NP_057431.2			N-acetyltransferase 8 (GCN5-related, putative)									p.L51L(1)		breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1)	9						GGAGTAGGGCGAGGGGCCCCC	0.612																																						ENST00000272425.3																			1	Substitution - coding silent(1)	p.L51L(1)	kidney(1)	breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1)	9						c.(151-153)ctC>ctT		N-acetyltransferase 8 (GCN5-related, putative)							75.0	89.0	84.0					2																	73868603		2203	4300	6503	SO:0001819	synonymous_variant	9027				gastrulation with mouth forming second|response to drug	integral to membrane	N-acetyltransferase activity	g.chr2:73868603G>A	AB013094	CCDS1926.1	2p13.2	2012-03-20	2008-09-24		ENSG00000144035	ENSG00000144035			18069	protein-coding gene	gene with protein product		606716	"""N-acetyltransferase 8"""			11397015, 9852678, 19011241	Standard	NM_003960		Approved	Hcml1, TSC501, GLA, ATase2	uc002sji.1	Q9UHE5	OTTHUMG00000129818	ENST00000272425.3:c.153C>T	2.37:g.73868603G>A							p.L51L	NM_003960.3|NM_016347.2	NP_003951.3|NP_057431.2	Q9UHE5	NAT8_HUMAN			2	302	-			51						Silent	SNP	ENST00000272425.3	37	c.153C>T	CCDS1926.1																																																																																				0.612	NAT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327854.1	NM_003960		7	554	0	0	0	0.000157383	0	7	554				
EXPH5	23086	broad.mit.edu	37	11	108381503	108381503	+	Silent	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr11:108381503G>T	ENST00000265843.4	-	6	4841	c.4731C>A	c.(4729-4731)acC>acA	p.T1577T	EXPH5_ENST00000525344.1_Silent_p.T1570T|EXPH5_ENST00000428840.1_Silent_p.T1501T|EXPH5_ENST00000443411.1_Silent_p.T1389T|EXPH5_ENST00000524840.1_5'Flank	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1577					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CATCCAAGTTGGTTTTATTTT	0.418																																						ENST00000265843.4																			0				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91						c.(4729-4731)acC>acA		exophilin 5							165.0	154.0	158.0					11																	108381503		2201	4298	6499	SO:0001819	synonymous_variant	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108381503G>T		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.4731C>A	11.37:g.108381503G>T						EXPH5_ENST00000525344.1_Silent_p.T1570T|EXPH5_ENST00000443411.1_Silent_p.T1389T|EXPH5_ENST00000428840.1_Silent_p.T1501T	p.T1577T	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)	6	4841	-		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)	1577					Q2KHM1|Q9Y4D6	Silent	SNP	ENST00000265843.4	37	c.4731C>A	CCDS8341.1																																																																																				0.418	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		10	841	1	0	6.40141e-05	6.40141e-05	0.00496729	10	841				
AMBN	258	broad.mit.edu	37	4	71468533	71468533	+	Missense_Mutation	SNP	C	C	G			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr4:71468533C>G	ENST00000322937.6	+	8	692	c.589C>G	c.(589-591)Cct>Gct	p.P197A	AMBN_ENST00000449493.2_Missense_Mutation_p.P182A	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	197					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|odontogenesis of dentin-containing tooth (GO:0042475)	proteinaceous extracellular matrix (GO:0005578)	growth factor activity (GO:0008083)|structural constituent of tooth enamel (GO:0030345)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			AATGGATTTTCCTGATCCACA	0.259																																						ENST00000322937.6																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29						c.(589-591)Cct>Gct		ameloblastin (enamel matrix protein)																																				SO:0001583	missense	258				bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel	g.chr4:71468533C>G	AF209780	CCDS3543.1	4q21	2006-11-28	2006-04-27		ENSG00000178522	ENSG00000178522			452	protein-coding gene	gene with protein product		601259	"""ameloblastin, enamel matrix protein"""			9126491	Standard	NM_016519		Approved		uc003hfl.3	Q9NP70	OTTHUMG00000129913	ENST00000322937.6:c.589C>G	4.37:g.71468533C>G	ENSP00000313809:p.Pro197Ala					AMBN_ENST00000449493.2_Missense_Mutation_p.P182A	p.P197A	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	Lung(101;0.235)		8	692	+			197					Q3B862|Q9H2X1|Q9H4L1	Missense_Mutation	SNP	ENST00000322937.6	37	c.589C>G	CCDS3543.1	.	.	.	.	.	.	.	.	.	.	C	0.091	-1.167250	0.01660	.	.	ENSG00000178522	ENST00000322937;ENST00000538728;ENST00000449493	T;T	0.31510	1.56;1.49	2.61	-3.06	0.05379	.	1.468300	0.05127	N	0.491847	T	0.13713	0.0332	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.18023	-1.0350	10	0.40728	T	0.16	.	3.1109	0.06357	0.1148:0.4467:0.2775:0.161	.	197	Q9NP70	AMBN_HUMAN	A	197;196;182	ENSP00000313809:P197A;ENSP00000391234:P182A	ENSP00000313809:P197A	P	+	1	0	AMBN	71503122	0.998000	0.40836	0.078000	0.20375	0.037000	0.13140	0.079000	0.14782	-0.882000	0.03987	-2.796000	0.00114	CCT		0.259	AMBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252165.1	NM_016519		6	392	0	0	0	1.64113e-05	0	6	392				
FYCO1	79443	broad.mit.edu	37	3	46003868	46003868	+	Nonsense_Mutation	SNP	C	C	A	rs148106976		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:46003868C>A	ENST00000296137.2	-	11	3491	c.3286G>T	c.(3286-3288)Gaa>Taa	p.E1096*	FYCO1_ENST00000535325.1_Nonsense_Mutation_p.E1096*	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	1096					plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		GTGGCTTTTTCGAGTTCCTTC	0.483																																						ENST00000296137.2																			0				NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54						c.(3286-3288)Gaa>Taa		FYVE and coiled-coil domain containing 1							226.0	235.0	232.0					3																	46003868		2203	4300	6503	SO:0001587	stop_gained	79443				transport	integral to membrane	metal ion binding|protein binding	g.chr3:46003868C>A	AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"""Zinc fingers, FYVE domain containing"""	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.3286G>T	3.37:g.46003868C>A	ENSP00000296137:p.Glu1096*					FYCO1_ENST00000535325.1_Nonsense_Mutation_p.E1096*	p.E1096*	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)	11	3491	-			1096					B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Nonsense_Mutation	SNP	ENST00000296137.2	37	c.3286G>T	CCDS2734.1	.	.	.	.	.	.	.	.	.	.	C	42	9.285028	0.99125	.	.	ENSG00000163820	ENST00000296137;ENST00000535325	.	.	.	5.91	2.19	0.27852	.	0.730351	0.13906	N	0.354608	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	-5.7671	5.0616	0.14560	0.1344:0.5818:0.0:0.2838	.	.	.	.	X	1096	.	ENSP00000296137:E1096X	E	-	1	0	FYCO1	45978872	0.023000	0.18921	0.007000	0.13788	0.360000	0.29518	1.351000	0.34022	0.413000	0.25759	-0.137000	0.14449	GAA		0.483	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257320.2	NM_024513		12	1102	1	0	0.000151284	0.000151284	0.00973904	12	1102				
SLC39A10	57181	broad.mit.edu	37	2	196548428	196548428	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:196548428G>T	ENST00000409086.3	+	3	1289	c.1014G>T	c.(1012-1014)ttG>ttT	p.L338F	SLC39A10_ENST00000359634.5_Missense_Mutation_p.L338F|SLC39A10_ENST00000541054.1_5'UTR	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	338					transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			TGCAGTGTTTGAACGTCACTC	0.313																																						ENST00000409086.3																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34						c.(1012-1014)ttG>ttT		solute carrier family 39 (zinc transporter), member 10							118.0	111.0	113.0					2																	196548428		2203	4300	6503	SO:0001583	missense	57181				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr2:196548428G>T		CCDS33353.1	2q33.1	2013-05-22			ENSG00000196950	ENSG00000196950		"""Solute carriers"""	20861	protein-coding gene	gene with protein product		608733	"""solute carrier family 39 (metal ion transporter), member 10"""			12659941	Standard	NM_020342		Approved	KIAA1265, FLJ90515, DKFZp564L2123	uc002utg.4	Q9ULF5	OTTHUMG00000154380	ENST00000409086.3:c.1014G>T	2.37:g.196548428G>T	ENSP00000386766:p.Leu338Phe					SLC39A10_ENST00000541054.1_5'UTR|SLC39A10_ENST00000359634.5_Missense_Mutation_p.L338F	p.L338F	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.221)		3	1289	+			338					A8K5C6|B4DGU0|Q3MJA4|Q68CR5|Q6DKH6|Q9Y3Z1	Missense_Mutation	SNP	ENST00000409086.3	37	c.1014G>T	CCDS33353.1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.782450	0.49891	.	.	ENSG00000196950	ENST00000409086;ENST00000359634	T;T	0.69435	-0.4;-0.4	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.72407	0.3456	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.68401	-0.5418	10	0.06236	T	0.91	.	9.6188	0.39708	0.1242:0.0:0.8758:0.0	.	338	Q9ULF5	S39AA_HUMAN	F	338	ENSP00000386766:L338F;ENSP00000352655:L338F	ENSP00000352655:L338F	L	+	3	2	SLC39A10	196256673	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.893000	0.56243	2.656000	0.90262	0.650000	0.86243	TTG		0.313	SLC39A10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335186.1	XM_047707		10	550	1	0	1.58986e-06	3.86212e-05	0.000199287	10	550				
RALGPS2	55103	broad.mit.edu	37	1	178855151	178855151	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:178855151C>A	ENST00000367635.3	+	13	1426	c.1088C>A	c.(1087-1089)cCa>cAa	p.P363Q	RALGPS2_ENST00000367634.2_Missense_Mutation_p.P363Q|RALGPS2_ENST00000477383.1_3'UTR	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	363					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						GCAACGTTTCCAAATGCAGGA	0.358																																						ENST00000367635.3																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(1087-1089)cCa>cAa		Ral GEF with PH domain and SH3 binding motif 2							76.0	78.0	77.0					1																	178855151		2203	4300	6503	SO:0001583	missense	55103				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding	g.chr1:178855151C>A	AK098470	CCDS1325.1, CCDS65733.1	1q24	2013-01-11			ENSG00000116191	ENSG00000116191		"""Pleckstrin homology (PH) domain containing"""	30279	protein-coding gene	gene with protein product						10747847, 12102558	Standard	NM_152663		Approved	KIAA0351, FLJ10244, FLJ25604	uc001glz.3	Q86X27	OTTHUMG00000035076	ENST00000367635.3:c.1088C>A	1.37:g.178855151C>A	ENSP00000356607:p.Pro363Gln					RALGPS2_ENST00000324778.4_Missense_Mutation_p.P328Q|RALGPS2_ENST00000367634.2_Missense_Mutation_p.P363Q|RALGPS2_ENST00000477383.1_3'UTR	p.P363Q	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN			13	1426	+			363					B7Z7B1|Q5T5Z1|Q5VZ67|Q9NW78	Missense_Mutation	SNP	ENST00000367635.3	37	c.1088C>A	CCDS1325.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.679844	0.88542	.	.	ENSG00000116191	ENST00000367635;ENST00000367634;ENST00000324778;ENST00000535251	T;T;T	0.43688	0.94;0.94;0.94	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.61073	0.2318	M	0.71036	2.16	0.80722	D	1	D;P	0.59357	0.985;0.893	P;P	0.57057	0.812;0.614	T	0.63427	-0.6640	10	0.62326	D	0.03	.	19.1111	0.93317	0.0:1.0:0.0:0.0	.	363;363	B7Z7B1;Q86X27	.;RGPS2_HUMAN	Q	363;363;328;12	ENSP00000356607:P363Q;ENSP00000356606:P363Q;ENSP00000313613:P328Q	ENSP00000313613:P328Q	P	+	2	0	RALGPS2	177121774	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.318000	0.79029	2.623000	0.88846	0.655000	0.94253	CCA		0.358	RALGPS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084926.2	NM_152663		6	476	1	0	1.12685e-05	1.12685e-05	0.00119236	6	476				
SDHAP1	255812	broad.mit.edu	37	3	195711423	195711423	+	RNA	SNP	A	A	G	rs201502468		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:195711423A>G	ENST00000427841.1	-	0	524					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		CTCTTGTACTAGAAACAGACC	0.552																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			0							g.chr3:195711423A>G	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195711423A>G								NR_003264.2						0	524	-									RNA	SNP	ENST00000427841.1	37																																																																																						0.552	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			6	214	0	0	0	2.31682e-05	0	6	214				
TBC1D3F	84218	broad.mit.edu	37	17	36288200	36288200	+	Missense_Mutation	SNP	G	G	T	rs571053907		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr17:36288200G>T	ENST00000327454.6	+	6	432	c.286G>T	c.(286-288)Gat>Tat	p.D96Y	TBC1D3F_ENST00000378174.5_Missense_Mutation_p.D96Y|TBC1D3F_ENST00000539424.1_Missense_Mutation_p.D16Y|TBC1D3F_ENST00000505415.1_Missense_Mutation_p.D96Y	NM_032258.2	NP_115634.2	A6NER0	TBC3F_HUMAN	TBC1 domain family, member 3F	96						plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			liver(1)|pancreas(1)	2						ACAGCTCATAGATCGAGCGTA	0.557																																						ENST00000539424.1																			0				liver(1)|pancreas(1)	2						c.(46-48)Gat>Tat		TBC1 domain family, member 3F							100.0	67.0	77.0					17																	36288200		876	1983	2859	SO:0001583	missense	84218					intracellular	Rab GTPase activator activity	g.chr17:36288200G>T			17q12	2014-09-16				ENSG00000275954			18257	protein-coding gene	gene with protein product		610809				16863688	Standard	NM_032258		Approved			A6NER0	OTTHUMG00000188428	ENST00000327454.6:c.286G>T	17.37:g.36288200G>T	ENSP00000329256:p.Asp96Tyr					TBC1D3F_ENST00000505415.1_Missense_Mutation_p.D96Y|TBC1D3F_ENST00000378174.5_Missense_Mutation_p.D96Y|TBC1D3F_ENST00000327454.6_Missense_Mutation_p.D96Y	p.D16Y			A6NER0	TBC3F_HUMAN			2	1711	+			96						Missense_Mutation	SNP	ENST00000327454.6	37	c.46G>T	CCDS45657.1	.	.	.	.	.	.	.	.	.	.	g	10.12	1.263192	0.23051	.	.	ENSG00000185128	ENST00000327454;ENST00000378174;ENST00000505415;ENST00000539424	T;T;T;T	0.32753	1.44;1.44;1.44;1.44	.	.	.	Rab-GAP/TBC domain (2);	20.140600	0.01652	U	0.024604	T	0.48223	0.1488	M	0.61703	1.905	0.26175	N	0.979819	P;D;P;D	0.71674	0.629;0.996;0.835;0.998	B;P;P;P	0.62089	0.122;0.885;0.547;0.898	T	0.33292	-0.9874	9	0.66056	D	0.02	.	5.9051	0.18992	8.0E-4:0.0:0.9992:0.0	.	96;96;96;96	B9A6J9;A6NFD7;P0C7X1;A6NER0	.;.;TBC3H_HUMAN;TBC3F_HUMAN	Y	96;96;96;16	ENSP00000329256:D96Y;ENSP00000367416:D96Y;ENSP00000421962:D96Y;ENSP00000443859:D16Y	ENSP00000329256:D96Y	D	+	1	0	TBC1D3F	33362582	1.000000	0.71417	0.115000	0.21578	0.115000	0.19883	3.514000	0.53422	0.119000	0.18210	0.121000	0.15741	GAT		0.557	TBC1D3F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256100.3	NM_032258.2		17	2134	1	0	1.23904e-05	1.23904e-05	0.00130542	17	2134				
ZNF493	284443	broad.mit.edu	37	19	21606544	21606544	+	Silent	SNP	C	C	T	rs563481308	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:21606544C>T	ENST00000355504.4	+	2	965	c.699C>T	c.(697-699)tcC>tcT	p.S233S	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000392288.2_Silent_p.S361S	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	233					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)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						ATAAGGAGTCCTCACACCTTA	0.358													.|||	2	0.000399361	0.0	0.0014	5008	,	,		18685	0.001		0.0	False		,,,				2504	0.0					ENST00000392288.2																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						c.(1081-1083)tcC>tcT		zinc finger protein 493							48.0	53.0	51.0					19																	21606544		2202	4296	6498	SO:0001819	synonymous_variant	284443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21606544C>T	AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"""Zinc fingers, C2H2-type"", ""-"""	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.699C>T	19.37:g.21606544C>T						CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Silent_p.S233S	p.S361S	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN			4	1192	+			233					G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Silent	SNP	ENST00000355504.4	37	c.1083C>T	CCDS12412.1																																																																																				0.358	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910		10	729	0	0	0	6.40141e-05	0	10	729				
KIR2DL3	3804	broad.mit.edu	37	19	55263867	55263867	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:55263867C>A	ENST00000342376.3	+	8	953	c.922C>A	c.(922-924)Cac>Aac	p.H308N	CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR2DL3_ENST00000434419.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron	NM_015868.2	NP_056952.2	P43628	KI2L3_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3	308					immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		ACAGTTGAATCACTGCGTTTT	0.502																																						ENST00000342376.3																			0				breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	21						c.(922-924)Cac>Aac		killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3							210.0	217.0	215.0					19																	55263867		2039	4010	6049	SO:0001583	missense	3804							g.chr19:55263867C>A	L41268	CCDS33107.1	19q13.4	2013-01-29				ENSG00000243772		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6331	protein-coding gene	gene with protein product		604938				7749980, 8662091	Standard	XM_006725426		Approved	cl-6, nkat2, nkat2a, nkat2b, p58, CD158B2		P43628	OTTHUMG00000065887	ENST00000342376.3:c.922C>A	19.37:g.55263867C>A	ENSP00000342215:p.His308Asn					KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR2DL3_ENST00000434419.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA	p.H308N	NM_015868.2	NP_056952.2				GBM - Glioblastoma multiforme(193;0.0192)	8	953	+								O43472|P78402|Q14944|Q14945|Q9UM51|Q9UQ70	Missense_Mutation	SNP	ENST00000342376.3	37	c.922C>A	CCDS33107.1	.	.	.	.	.	.	.	.	.	.	C	10.72	1.430494	0.25726	.	.	ENSG00000243772	ENST00000342376	T	0.00464	7.24	1.06	1.06	0.20224	.	.	.	.	.	T	0.01489	0.0048	M	0.92507	3.315	0.09310	N	0.999999	P;P;P	0.44986	0.769;0.847;0.847	P;P;P	0.61397	0.888;0.544;0.544	T	0.26573	-1.0099	9	0.87932	D	0	.	5.5228	0.16941	0.0:1.0:0.0:0.0	.	210;308;308	P43628-2;P43628;E3NZD8	.;KI2L3_HUMAN;.	N	308	ENSP00000342215:H308N	ENSP00000342215:H308N	H	+	1	0	KIR2DL3	59955679	0.005000	0.15991	0.002000	0.10522	0.012000	0.07955	1.002000	0.29796	0.889000	0.36185	0.298000	0.19748	CAC		0.502	KIR2DL3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000141150.1			16	1367	1	0	2.31682e-05	2.31682e-05	0.00220351	16	1367				
BCS1L	617	broad.mit.edu	37	2	219525978	219525978	+	Missense_Mutation	SNP	C	C	A	rs369691608		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:219525978C>A	ENST00000431802.1	+	2	967	c.268C>A	c.(268-270)Cgc>Agc	p.R90S	BCS1L_ENST00000392111.2_Missense_Mutation_p.R90S|BCS1L_ENST00000392109.1_Missense_Mutation_p.R90S|BCS1L_ENST00000439945.1_Missense_Mutation_p.R90S|ZNF142_ENST00000449707.1_5'Flank|BCS1L_ENST00000359273.3_Missense_Mutation_p.R90S|BCS1L_ENST00000392110.2_Missense_Mutation_p.R90S|ZNF142_ENST00000411696.2_5'Flank|BCS1L_ENST00000412366.1_Missense_Mutation_p.R90S			Q9Y276	BCS1_HUMAN	BC1 (ubiquinol-cytochrome c reductase) synthesis-like	90					mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex III assembly (GO:0034551)|mitochondrial respiratory chain complex IV assembly (GO:0033617)|mitochondrion organization (GO:0007005)	mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8		Renal(207;0.0474)		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGAGAGTGGCCGCATTTCCAC	0.522																																						ENST00000431802.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8						c.(268-270)Cgc>Agc		BC1 (ubiquinol-cytochrome c reductase) synthesis-like							120.0	125.0	124.0					2																	219525978		2203	4300	6503	SO:0001583	missense	617				mitochondrial respiratory chain complex I assembly|mitochondrial respiratory chain complex III assembly|mitochondrial respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain complex III	ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr2:219525978C>A	AF026849	CCDS2419.1	2q35	2014-09-17	2012-10-12		ENSG00000074582	ENSG00000074582		"""ATPases / AAA-type"", ""Mitochondrial respiratory chain complex assembly factors"""	1020	protein-coding gene	gene with protein product	"""GRACILE syndrome"", ""Bjornstad syndrome"""	603647	"""BCS1 (yeast homolog)-like"", ""BCS1-like (yeast)"", ""BCS1-like (S. cerevisiae)"""			9878253, 17314340	Standard	NM_001079866		Approved	Hs.6719, BCS, h-BCS, BJS	uc002viq.3	Q9Y276	OTTHUMG00000133114	ENST00000431802.1:c.268C>A	2.37:g.219525978C>A	ENSP00000413908:p.Arg90Ser					BCS1L_ENST00000392109.1_Missense_Mutation_p.R90S|BCS1L_ENST00000359273.3_Missense_Mutation_p.R90S|BCS1L_ENST00000392110.2_Missense_Mutation_p.R90S|BCS1L_ENST00000412366.1_Missense_Mutation_p.R90S|BCS1L_ENST00000392111.2_Missense_Mutation_p.R90S|BCS1L_ENST00000439945.1_Missense_Mutation_p.R90S	p.R90S			Q9Y276	BCS1_HUMAN		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	2	967	+		Renal(207;0.0474)	90					B3KTW9|Q7Z2V7	Missense_Mutation	SNP	ENST00000431802.1	37	c.268C>A	CCDS2419.1	.	.	.	.	.	.	.	.	.	.	C	7.689	0.690688	0.15039	.	.	ENSG00000074582	ENST00000430322;ENST00000456050;ENST00000359273;ENST00000392109;ENST00000392110;ENST00000423377;ENST00000392111;ENST00000412366;ENST00000439945;ENST00000431802	D;D;D;D;D;D;D;D;D;D	0.96073	-3.9;-3.9;-2.29;-2.29;-2.29;-2.93;-2.29;-2.29;-2.29;-2.29	5.6	4.73	0.59995	BCS1, N-terminal (1);	0.121283	0.56097	D	0.000032	D	0.90195	0.6935	N	0.24115	0.695	0.51233	D	0.999917	B	0.24483	0.104	B	0.27262	0.078	D	0.85611	0.1258	10	0.08381	T	0.77	-10.8847	14.3379	0.66603	0.0:0.9291:0.0:0.0709	.	90	Q9Y276	BCS1_HUMAN	S	90	ENSP00000398957:R90S;ENSP00000395440:R90S;ENSP00000352219:R90S;ENSP00000375957:R90S;ENSP00000375958:R90S;ENSP00000397293:R90S;ENSP00000375959:R90S;ENSP00000406494:R90S;ENSP00000404999:R90S;ENSP00000413908:R90S	ENSP00000352219:R90S	R	+	1	0	BCS1L	219234222	1.000000	0.71417	0.881000	0.34555	0.983000	0.72400	5.933000	0.70130	1.367000	0.46095	0.655000	0.94253	CGC		0.522	BCS1L-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336756.1	NM_004328		9	713	1	0	1.76689e-08	2.17888e-05	2.51094e-06	9	713				
MYH4	4622	broad.mit.edu	37	17	10357158	10357158	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr17:10357158C>A	ENST00000255381.2	-	23	2846	c.2736G>T	c.(2734-2736)ttG>ttT	p.L912F	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	912					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TGGTTTTAATCAACTGATCAC	0.408																																						ENST00000255381.2																			0				NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.(2734-2736)ttG>ttT		myosin, heavy chain 4, skeletal muscle							286.0	264.0	271.0					17																	10357158		2203	4300	6503	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10357158C>A		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.2736G>T	17.37:g.10357158C>A	ENSP00000255381:p.Leu912Phe					CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	p.L912F	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN			23	2846	-			912						Missense_Mutation	SNP	ENST00000255381.2	37	c.2736G>T	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.402888	0.42613	.	.	ENSG00000141048	ENST00000255381	D	0.95412	-3.7	5.43	-1.39	0.08997	.	0.000000	0.30639	U	0.009189	D	0.98157	0.9391	H	0.98786	4.33	0.44289	D	0.997154	D	0.89917	1.0	D	0.83275	0.996	D	0.95774	0.8811	10	0.87932	D	0	.	7.1582	0.25649	0.0:0.4773:0.2067:0.316	.	912	Q9Y623	MYH4_HUMAN	F	912	ENSP00000255381:L912F	ENSP00000255381:L912F	L	-	3	2	MYH4	10297883	0.989000	0.36119	0.401000	0.26359	0.842000	0.47809	0.287000	0.18920	-0.112000	0.11979	-0.886000	0.02939	TTG		0.408	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		12	885	1	0	5.50884e-06	0.00010058	0.000617672	12	885				
UNG	7374	broad.mit.edu	37	12	109547720	109547720	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr12:109547720C>A	ENST00000242576.2	+	7	994	c.888C>A	c.(886-888)acC>acA	p.T296T	UNG_ENST00000336865.2_Silent_p.T287T|RP11-968O1.5_ENST00000541704.2_RNA	NM_080911.2	NP_550433.1			uracil-DNA glycosylase											central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						TTTCAAAGACCAATGAGCTGC	0.478								Base excision repair (BER), DNA glycosylases	Immune Deficiency with Hyper-IgM																													ENST00000336865.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						c.(859-861)acC>acA	Base excision repair (BER), DNA glycosylases	uracil-DNA glycosylase							97.0	95.0	96.0					12																	109547720		2203	4300	6503	SO:0001819	synonymous_variant	7374	Immune Deficiency with Hyper-IgM	Familial Cancer Database	Hypogammaglobulinemia with Hyper-IgM, HIGM type I-V, XLHIGM	base-excision repair|interspecies interaction between organisms	mitochondrion|nucleus	protein binding|uracil DNA N-glycosylase activity	g.chr12:109547720C>A	A64377	CCDS9124.1, CCDS9125.1	12q23-q24.1	2014-09-17			ENSG00000076248	ENSG00000076248	3.2.2.27		12572	protein-coding gene	gene with protein product	"""uracil-DNA glycosylase 1, uracil-DNA glycosylase 2"""	191525		DGU		1923798, 17101234	Standard	NM_080911		Approved	UDG, UNG1, UNG2, HIGM4	uc001tnz.2	P13051	OTTHUMG00000169247	ENST00000242576.2:c.888C>A	12.37:g.109547720C>A						UNG_ENST00000242576.2_Silent_p.T296T	p.T287T	NM_003362.3	NP_003353.1	P13051	UNG_HUMAN			6	1070	+			296						Silent	SNP	ENST00000242576.2	37	c.861C>A	CCDS9124.1	.	.	.	.	.	.	.	.	.	.	C	10.70	1.423234	0.25639	.	.	ENSG00000076248	ENST00000542183	.	.	.	5.82	4.02	0.46733	.	.	.	.	.	T	0.60340	0.2261	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61252	-0.7100	5	0.87932	D	0	-14.9663	4.4685	0.11701	0.2511:0.5308:0.0:0.2181	.	.	.	.	Q	50	.	ENSP00000438623:P50Q	P	+	2	0	UNG	108032103	0.609000	0.26975	1.000000	0.80357	0.961000	0.63080	-0.176000	0.09811	0.831000	0.34780	-0.219000	0.12488	CCA		0.478	UNG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403067.1	NM_080911		11	611	1	0	3.86212e-05	3.86212e-05	0.00332401	11	611				
CPT1B	1375	broad.mit.edu	37	22	51012928	51012928	+	Silent	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr22:51012928G>T	ENST00000360719.2	-	8	1016	c.879C>A	c.(877-879)atC>atA	p.I293I	CPT1B_ENST00000434492.2_Silent_p.I90I|CPT1B_ENST00000457250.1_Silent_p.I259I|CPT1B_ENST00000405237.3_Silent_p.I293I|CPT1B_ENST00000440709.1_Silent_p.I293I|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000395650.2_Silent_p.I293I|CPT1B_ENST00000312108.7_Silent_p.I293I	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	293					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		TCACAGGCTTGATTTCTTCAC	0.557																																					Esophageal Squamous(170;988 1933 25577 30295 48163)	ENST00000360719.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(877-879)atC>atA		carnitine palmitoyltransferase 1B (muscle)							197.0	159.0	172.0					22																	51012928		2203	4300	6503	SO:0001819	synonymous_variant	1375				carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr22:51012928G>T	U62733	CCDS14098.1, CCDS46734.1	22q13.33	2007-07-26			ENSG00000205560	ENSG00000205560			2329	protein-coding gene	gene with protein product		601987				9070950	Standard	NM_152245		Approved	M-CPT1, CPT1-M	uc003bmm.3	Q92523	OTTHUMG00000137390	ENST00000360719.2:c.879C>A	22.37:g.51012928G>T						CPT1B_ENST00000405237.3_Silent_p.I293I|CPT1B_ENST00000457250.1_Silent_p.I259I|CPT1B_ENST00000440709.1_Silent_p.I293I|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000395650.2_Silent_p.I293I|CPT1B_ENST00000434492.2_Silent_p.I90I|CPT1B_ENST00000312108.7_Silent_p.I293I	p.I293I	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)	8	1016	-		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	293					B7Z4U4|B7Z5T8|E9PCP2|Q13389|Q99655|Q9BY90	Silent	SNP	ENST00000360719.2	37	c.879C>A	CCDS14098.1																																																																																				0.557	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317264.5	NM_152246		15	558	1	0	9.7654e-05	9.7654e-05	0.0072096	15	558				
ZNF443	10224	broad.mit.edu	37	19	12542302	12542302	+	Silent	SNP	C	C	T	rs544462649		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:12542302C>T	ENST00000301547.5	-	4	881	c.684G>A	c.(682-684)aaG>aaA	p.K228K	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	228					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						TAGAACACTGCTTACATTCAT	0.373													.|||	1	0.000199681	0.0	0.0	5008	,	,		23379	0.0		0.0	False		,,,				2504	0.001					ENST00000301547.5																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						c.(682-684)aaG>aaA		zinc finger protein 443							116.0	120.0	119.0					19																	12542302		2203	4299	6502	SO:0001819	synonymous_variant	10224				induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12542302C>T	AB011414	CCDS32918.1	19p13.13	2013-01-08			ENSG00000180855	ENSG00000180855		"""Zinc fingers, C2H2-type"", ""-"""	20878	protein-coding gene	gene with protein product		606697				9731181	Standard	NM_005815		Approved	ZK1	uc002mtu.3	Q9Y2A4	OTTHUMG00000156404	ENST00000301547.5:c.684G>A	19.37:g.12542302C>T						CTD-3105H18.16_ENST00000595562.1_Intron	p.K228K	NM_005815.4	NP_005806.2	Q9Y2A4	ZN443_HUMAN			4	881	-			228						Silent	SNP	ENST00000301547.5	37	c.684G>A	CCDS32918.1																																																																																				0.373	ZNF443-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344084.1	NM_005815		8	1239	0	0	0	1.23904e-05	0	8	1239				
ACTR10	55860	broad.mit.edu	37	14	58698943	58698943	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr14:58698943C>A	ENST00000254286.4	+	12	1110	c.1030C>A	c.(1030-1032)Cat>Aat	p.H344N		NM_018477.2	NP_060947.1	Q9NZ32	ARP10_HUMAN	actin-related protein 10 homolog (S. cerevisiae)	344					microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|dynactin complex (GO:0005869)				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	13						ATTTCGAATTCATACTCCACC	0.348																																						ENST00000254286.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	13						c.(1030-1032)Cat>Aat		actin-related protein 10 homolog (S. cerevisiae)							86.0	95.0	92.0					14																	58698943		2203	4300	6503	SO:0001583	missense	55860					cytoplasm		g.chr14:58698943C>A	AF220190	CCDS32090.1	14q23.1	2014-08-08			ENSG00000131966	ENSG00000131966			17372	protein-coding gene	gene with protein product						12857853	Standard	NM_018477		Approved	HARP11, ACTR11, Arp11	uc001xdf.3	Q9NZ32	OTTHUMG00000171049	ENST00000254286.4:c.1030C>A	14.37:g.58698943C>A	ENSP00000254286:p.His344Asn					ACTR10_ENST00000554402.1_3'UTR	p.H344N	NM_018477.2	NP_060947.1	Q9NZ32	ARP10_HUMAN			12	1110	+			344					Q9H9Y5|Q9NWY2	Missense_Mutation	SNP	ENST00000254286.4	37	c.1030C>A	CCDS32090.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.8|27.8	4.861387|4.861387	0.91433|0.91433	.|.	.|.	ENSG00000131966|ENSG00000131966	ENST00000254286|ENST00000554642	D|.	0.94650|.	-3.48|.	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.82559|.	0.5063|.	M|M	0.82323|0.82323	2.585|2.585	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.999;0.999|.	D;D|.	0.68039|.	0.955;0.955|.	T|.	0.82452|.	-0.0450|.	9|.	.|.	.|.	.|.	0.0837|0.0837	19.3504|19.3504	0.94381|0.94381	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	344;344|.	Q53H79;Q9NZ32|.	.;ARP10_HUMAN|.	N|X	344|75	ENSP00000254286:H344N|.	.|.	H|S	+|+	1|2	0|0	ACTR10|ACTR10	57768696|57768696	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.687000|7.687000	0.84139|0.84139	2.885000|2.885000	0.99019|0.99019	0.655000|0.655000	0.94253|0.94253	CAT|TCA		0.348	ACTR10-002	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411405.1			12	837	1	0	1.3612e-06	2.31682e-05	0.000177925	12	837				
RAB14	51552	broad.mit.edu	37	9	123949238	123949238	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr9:123949238G>T	ENST00000373840.4	-	5	581	c.344C>A	c.(343-345)cCa>cAa	p.P115Q		NM_016322.3	NP_057406.2	P61106	RAB14_HUMAN	RAB14, member RAS oncogene family	115					embryo development (GO:0009790)|endocytic recycling (GO:0032456)|fibroblast growth factor receptor signaling pathway (GO:0008543)|Golgi to endosome transport (GO:0006895)|GTP catabolic process (GO:0006184)|intracellular transport (GO:0046907)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of protein localization (GO:0032880)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|nuclear outer membrane-endoplasmic reticulum membrane network (GO:0042175)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|rough endoplasmic reticulum (GO:0005791)|trans-Golgi network transport vesicle (GO:0030140)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						TACAGTATTTGGATTGGTGAG	0.338																																						ENST00000373840.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						c.(343-345)cCa>cAa		RAB14, member RAS oncogene family							106.0	101.0	103.0					9																	123949238		2203	4298	6501	SO:0001583	missense	51552				embryo development|fibroblast growth factor receptor signaling pathway|Golgi to endosome transport|neurotransmitter secretion|protein transport|small GTPase mediated signal transduction	cytosol|early endosome membrane|Golgi membrane|Golgi stack|late endosome|lysosome|membrane fraction|nuclear outer membrane-endoplasmic reticulum membrane network|perinuclear region of cytoplasm|rough endoplasmic reticulum|trans-Golgi network transport vesicle	GDP binding|GTP binding|GTPase activity	g.chr9:123949238G>T	AF152463	CCDS6827.1	9q32-q34.11	2008-07-21			ENSG00000119396	ENSG00000119396		"""RAB, member RAS oncogene"""	16524	protein-coding gene	gene with protein product	"""F protein-binding protein 1"", ""bA165P4.3 (member RAS oncogene family)"", ""small GTP binding protein RAB14"""	612673				9792283, 15004230	Standard	NM_016322		Approved	FBP, RAB-14	uc004blc.3	P61106	OTTHUMG00000020582	ENST00000373840.4:c.344C>A	9.37:g.123949238G>T	ENSP00000362946:p.Pro115Gln						p.P115Q	NM_016322.3	NP_057406.2	P61106	RAB14_HUMAN			5	581	-			115					B3KR31|P35287|Q5JVD4|Q6Q7K5|Q969L0|Q9UI11	Missense_Mutation	SNP	ENST00000373840.4	37	c.344C>A	CCDS6827.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.688945	0.88735	.	.	ENSG00000119396	ENST00000373840;ENST00000451303	T;T	0.75704	-0.96;-0.96	6.06	6.06	0.98353	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.79604	0.4474	L	0.28014	0.82	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74774	-0.3551	10	0.24483	T	0.36	.	19.6279	0.95687	0.0:0.0:1.0:0.0	.	115	P61106	RAB14_HUMAN	Q	115	ENSP00000362946:P115Q;ENSP00000400107:P115Q	ENSP00000362946:P115Q	P	-	2	0	RAB14	122989059	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.737000	0.98831	2.880000	0.98712	0.650000	0.86243	CCA		0.338	RAB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053857.1	NM_016322		8	461	1	0	2.17888e-05	2.17888e-05	0.00213033	8	461				
IDE	3416	broad.mit.edu	37	10	94223733	94223733	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr10:94223733C>A	ENST00000265986.6	-	21	2572	c.2516G>T	c.(2515-2517)cGa>cTa	p.R839L	IDE_ENST00000496903.1_5'UTR|IDE_ENST00000371581.5_Missense_Mutation_p.R284L	NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	839					beta-amyloid metabolic process (GO:0050435)|bradykinin catabolic process (GO:0010815)|determination of adult lifespan (GO:0008340)|hormone catabolic process (GO:0042447)|insulin catabolic process (GO:1901143)|insulin metabolic process (GO:1901142)|insulin receptor signaling pathway (GO:0008286)|negative regulation of proteolysis (GO:0045861)|positive regulation of protein oligomerization (GO:0032461)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein homotetramerization (GO:0051289)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|ubiquitin homeostasis (GO:0010992)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|beta-amyloid binding (GO:0001540)|beta-endorphin binding (GO:0031626)|glycoprotein binding (GO:0001948)|insulin binding (GO:0043559)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					"""""""Insulin(DB00071)|Bacitracin(DB00626)|Insulin Regular(DB00030)"""	GCCATTAGCTCGACGTGGCCC	0.453																																						ENST00000265986.6																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33						c.(2515-2517)cGa>cTa		insulin-degrading enzyme	Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						201.0	198.0	199.0					10																	94223733		2203	4300	6503	SO:0001583	missense	3416				beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding	g.chr10:94223733C>A	M21188	CCDS7421.1, CCDS53554.1	10q23-q25	2007-03-27			ENSG00000119912	ENSG00000119912			5381	protein-coding gene	gene with protein product	"""insulysin"""	146680				2293021	Standard	NM_004969		Approved		uc001kia.3	P14735	OTTHUMG00000018759	ENST00000265986.6:c.2516G>T	10.37:g.94223733C>A	ENSP00000265986:p.Arg839Leu					IDE_ENST00000496903.1_5'UTR|IDE_ENST00000371581.5_Missense_Mutation_p.R284L	p.R839L	NM_004969.3	NP_004960.2	P14735	IDE_HUMAN			21	2572	-			839					B2R721|B7ZAU2|D3DR35|Q5T5N2	Missense_Mutation	SNP	ENST00000265986.6	37	c.2516G>T	CCDS7421.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.962777	0.92791	.	.	ENSG00000119912	ENST00000265986;ENST00000371581	T;T	0.07327	3.2;3.2	5.61	5.61	0.85477	Peptidase M16, C-terminal (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.000000	0.64402	D	0.000001	T	0.19327	0.0464	L	0.54863	1.705	0.80722	D	1	D;D	0.59767	0.978;0.986	P;P	0.58172	0.792;0.834	T	0.03863	-1.0997	10	0.07990	T	0.79	-8.6533	20.0016	0.97412	0.0:1.0:0.0:0.0	.	839;284	P14735;B3KSB8	IDE_HUMAN;.	L	839;284	ENSP00000265986:R839L;ENSP00000360637:R284L	ENSP00000265986:R839L	R	-	2	0	IDE	94213713	1.000000	0.71417	1.000000	0.80357	0.776000	0.43924	7.545000	0.82128	2.802000	0.96397	0.655000	0.94253	CGA		0.453	IDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049393.1	NM_004969		10	1049	1	0	6.40141e-05	6.40141e-05	0.00496729	10	1049				
SFXN4	119559	broad.mit.edu	37	10	120923683	120923683	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr10:120923683C>A	ENST00000355697.2	-	2	156	c.137G>T	c.(136-138)tGg>tTg	p.W46L	SFXN4_ENST00000461438.1_5'UTR|SFXN4_ENST00000330036.6_Missense_Mutation_p.W46L	NM_213649.1	NP_998814.1	Q6P4A7	SFXN4_HUMAN	sideroflexin 4	46					iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)			central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	11		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0261)		TAATTCTGTCCATTGAAGAAA	0.323																																						ENST00000355697.2																			0				central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	11						c.(136-138)tGg>tTg		sideroflexin 4							83.0	91.0	88.0					10																	120923683		2203	4300	6503	SO:0001583	missense	119559				iron ion homeostasis	integral to membrane|mitochondrial membrane	cation transmembrane transporter activity	g.chr10:120923683C>A		CCDS7610.1	10q26.11	2006-03-13			ENSG00000183605	ENSG00000183605		"""Sideroflexins"""	16088	protein-coding gene	gene with protein product		615564				14756423	Standard	NM_213649		Approved		uc001leb.3	Q6P4A7	OTTHUMG00000019147	ENST00000355697.2:c.137G>T	10.37:g.120923683C>A	ENSP00000347924:p.Trp46Leu					SFXN4_ENST00000461438.1_5'UTR|SFXN4_ENST00000330036.6_Missense_Mutation_p.W46L	p.W46L	NM_213649.1	NP_998814.1	Q6P4A7	SFXN4_HUMAN		all cancers(201;0.0261)	2	156	-		Lung NSC(174;0.094)|all_lung(145;0.123)	46					Q6WSU4|Q86TD9	Missense_Mutation	SNP	ENST00000355697.2	37	c.137G>T	CCDS7610.1	.	.	.	.	.	.	.	.	.	.	C	12.83	2.056769	0.36277	.	.	ENSG00000183605	ENST00000355697;ENST00000330036	T;T	0.27402	1.67;1.67	4.29	4.29	0.51040	.	0.151299	0.47852	D	0.000202	T	0.30696	0.0773	M	0.65498	2.005	0.46149	D	0.99889	P	0.35793	0.521	B	0.31245	0.126	T	0.26189	-1.0110	10	0.62326	D	0.03	-4.1067	12.1773	0.54192	0.0:1.0:0.0:0.0	.	46	Q6P4A7	SFXN4_HUMAN	L	46	ENSP00000347924:W46L;ENSP00000333200:W46L	ENSP00000333200:W46L	W	-	2	0	SFXN4	120913673	1.000000	0.71417	0.989000	0.46669	0.573000	0.36030	3.338000	0.52128	2.239000	0.73571	0.449000	0.29647	TGG		0.323	SFXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050642.3	XM_058406		10	990	1	0	3.86212e-05	3.86212e-05	0.00332401	10	990				
HIRIP3	8479	broad.mit.edu	37	16	30000991	30000991	+	IGR	SNP	A	A	G			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr16:30000991A>G	ENST00000279392.3	-	0	3385				TAOK2_ENST00000279394.3_Silent_p.A770A	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3						chromatin assembly or disassembly (GO:0006333)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						CTCTGCGAGCACACTTGCTGG	0.562																																						ENST00000279394.3																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						c.(2308-2310)gcA>gcG		TAO kinase 2							77.0	67.0	71.0					16																	30000991		2197	4300	6497	SO:0001628	intergenic_variant	9344				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr16:30000991A>G	AJ223351	CCDS10664.1, CCDS58449.1	16p12.1	2008-02-05	2001-11-29		ENSG00000149929	ENSG00000149929			4917	protein-coding gene	gene with protein product		603365	"""HIRA-interacting protein 3"""			9710638	Standard	NM_003609		Approved		uc002dve.3	Q9BW71	OTTHUMG00000132118		16.37:g.30000991A>G							p.A770A	NM_004783.3	NP_004774.1	Q9UL54	TAOK2_HUMAN			17	2713	+			648					H3BSR3|O75707|O75708	Silent	SNP	ENST00000279392.3	37	c.2310A>G	CCDS10664.1																																																																																				0.562	HIRIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255160.2	NM_003609		41	188	0	0	0	2.86225e-05	0	41	188				
CNRIP1	25927	broad.mit.edu	37	2	68544303	68544303	+	Nonsense_Mutation	SNP	G	G	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:68544303G>A	ENST00000263655.3	-	2	921	c.316C>T	c.(316-318)Cag>Tag	p.Q106*	CNRIP1_ENST00000409862.1_Nonsense_Mutation_p.Q106*|CNRIP1_ENST00000481714.1_5'UTR|CNRIP1_ENST00000409559.3_Nonsense_Mutation_p.Q106*	NM_015463.2	NP_056278.1	Q96F85	CNRP1_HUMAN	cannabinoid receptor interacting protein 1	106										kidney(1)|large_intestine(5)|liver(1)|lung(1)|skin(1)	9						ATGGTGATCTGGATGGGTTGC	0.468																																						ENST00000263655.3																			0				kidney(1)|large_intestine(5)|liver(1)|lung(1)|skin(1)	9						c.(316-318)Cag>Tag		cannabinoid receptor interacting protein 1							186.0	161.0	170.0					2																	68544303		2203	4300	6503	SO:0001587	stop_gained	25927						protein binding	g.chr2:68544303G>A	AL110235	CCDS1886.1, CCDS46311.1	2p13	2008-02-05	2007-11-29	2007-11-29	ENSG00000119865	ENSG00000119865			24546	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 32"""	C2orf32		12477932	Standard	NM_015463		Approved	DKFZP566K1924, CRIP1, CRIP1a, CRIP1b	uc002sek.4	Q96F85	OTTHUMG00000129565	ENST00000263655.3:c.316C>T	2.37:g.68544303G>A	ENSP00000263655:p.Gln106*					CNRIP1_ENST00000481714.1_5'UTR|CNRIP1_ENST00000409559.3_Nonsense_Mutation_p.Q106*|CNRIP1_ENST00000409862.1_Nonsense_Mutation_p.Q106*	p.Q106*	NM_015463.2	NP_056278.1	Q96F85	CNRP1_HUMAN			2	921	-			106					B2R4D0|Q49AN4|Q9UFZ0	Nonsense_Mutation	SNP	ENST00000263655.3	37	c.316C>T	CCDS1886.1	.	.	.	.	.	.	.	.	.	.	G	37	6.464642	0.97590	.	.	ENSG00000119865	ENST00000409559;ENST00000263655;ENST00000409862	.	.	.	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-13.3606	17.0178	0.86424	0.0:0.0:1.0:0.0	.	.	.	.	X	106	.	ENSP00000263655:Q106X	Q	-	1	0	CNRIP1	68397807	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.967000	0.93402	2.697000	0.92050	0.555000	0.69702	CAG		0.468	CNRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251758.1	NM_015463		9	853	0	0	0	3.86212e-05	0	9	853				
GPR35	2859	broad.mit.edu	37	2	241569512	241569512	+	Missense_Mutation	SNP	G	G	A	rs368251622		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:241569512G>A	ENST00000319838.5	+	6	1085	c.143G>A	c.(142-144)cGc>cAc	p.R48H	GPR35_ENST00000430267.1_Missense_Mutation_p.R48H|GPR35_ENST00000403859.1_Missense_Mutation_p.R48H|GPR35_ENST00000407714.1_Missense_Mutation_p.R48H|GPR35_ENST00000438013.2_Missense_Mutation_p.R79H	NM_001195381.1	NP_001182310.1	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35	48					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		TTCTGCTGCCGCATGCAGCAG	0.647																																						ENST00000319838.5																			0				NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17						c.(142-144)cGc>cAc		G protein-coupled receptor 35		G	HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	84.0	75.0	78.0		236,236,143	2.9	0.8	2		78	0,8600		0,0,4300	no	missense,missense,missense	GPR35	NM_001195381.1,NM_001195382.1,NM_005301.3	29,29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	79/341,79/341,48/310	241569512	1,13005	2203	4300	6503	SO:0001583	missense	2859					integral to plasma membrane	G-protein coupled receptor activity	g.chr2:241569512G>A		CCDS2541.1, CCDS56174.1	2q37.3	2012-08-21			ENSG00000178623	ENSG00000178623		"""GPCR / Class A : Orphans"""	4492	protein-coding gene	gene with protein product		602646				9479505	Standard	NM_005301		Approved		uc021vze.1	Q9HC97	OTTHUMG00000133356	ENST00000319838.5:c.143G>A	2.37:g.241569512G>A	ENSP00000322731:p.Arg48His					GPR35_ENST00000430267.1_Missense_Mutation_p.R48H|GPR35_ENST00000403859.1_Missense_Mutation_p.R48H|GPR35_ENST00000438013.2_Missense_Mutation_p.R79H|GPR35_ENST00000407714.1_Missense_Mutation_p.R48H	p.R48H	NM_001195381.1	NP_001182310.1	Q9HC97	GPR35_HUMAN		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)	6	1085	+		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)	48					J3KR30|O43495|Q17R58|Q4VBN5|Q4ZFV2|Q6FHI8|Q86UH4	Missense_Mutation	SNP	ENST00000319838.5	37	c.143G>A	CCDS2541.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.219555	0.58560	2.27E-4	0.0	ENSG00000178623	ENST00000319838;ENST00000403859;ENST00000438013;ENST00000407714;ENST00000430267	T;T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61;-0.61	3.81	2.92	0.33932	GPCR, rhodopsin-like superfamily (1);	0.567532	0.16439	U	0.214392	T	0.73225	0.3560	L	0.39514	1.22	0.34064	D	0.657654	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77004	0.987;0.989;0.989	T	0.74497	-0.3646	10	0.36615	T	0.2	-28.6438	6.1563	0.20340	0.2348:0.0:0.7652:0.0	.	133;79;48	Q6ZMP9;A8K2J1;Q9HC97	.;.;GPR35_HUMAN	H	48;48;79;48;48	ENSP00000322731:R48H;ENSP00000385140:R48H;ENSP00000415890:R79H;ENSP00000384263:R48H;ENSP00000411788:R48H	ENSP00000322731:R48H	R	+	2	0	GPR35	241218185	0.000000	0.05858	0.789000	0.31954	0.616000	0.37450	-0.018000	0.12568	0.937000	0.37394	0.462000	0.41574	CGC		0.647	GPR35-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000325631.1	NM_001195382		6	247	0	0	0	3.59834e-05	0	6	247				
ZCCHC6	79670	broad.mit.edu	37	9	88953781	88953781	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr9:88953781G>T	ENST00000375963.3	-	9	1464	c.1292C>A	c.(1291-1293)cCa>cAa	p.P431Q	ZCCHC6_ENST00000375960.2_Intron|ZCCHC6_ENST00000375948.1_Missense_Mutation_p.P69Q|ZCCHC6_ENST00000277141.6_5'UTR|ZCCHC6_ENST00000375961.2_Missense_Mutation_p.P431Q	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	431					RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						AACCAGCTTTGGTTCTAGTTT	0.428																																						ENST00000375961.2																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						c.(1291-1293)cCa>cAa		zinc finger, CCHC domain containing 6							112.0	100.0	104.0					9																	88953781		2203	4300	6503	SO:0001583	missense	79670				RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding	g.chr9:88953781G>T	AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"""Zinc fingers, CCHC domain containing"""	25817	protein-coding gene	gene with protein product	"""TUTase7"""					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.1292C>A	9.37:g.88953781G>T	ENSP00000365130:p.Pro431Gln					ZCCHC6_ENST00000375960.2_Intron|ZCCHC6_ENST00000375963.3_Missense_Mutation_p.P431Q|ZCCHC6_ENST00000277141.6_5'UTR|ZCCHC6_ENST00000375948.1_Missense_Mutation_p.P69Q	p.P431Q			Q5VYS8	TUT7_HUMAN			9	1506	-			431					Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Missense_Mutation	SNP	ENST00000375963.3	37	c.1292C>A	CCDS35057.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.802284	0.90538	.	.	ENSG00000083223	ENST00000375961;ENST00000375963;ENST00000375948	T;T;T	0.73681	-0.77;-0.77;-0.77	4.56	4.56	0.56223	.	0.117764	0.64402	D	0.000017	D	0.84451	0.5475	M	0.77712	2.385	0.51482	D	0.999928	P;P	0.51653	0.947;0.891	P;P	0.58331	0.837;0.617	D	0.86390	0.1735	10	0.59425	D	0.04	-16.5782	17.8715	0.88812	0.0:0.0:1.0:0.0	.	431;431	Q5VYS8-2;Q5VYS8	.;TUT7_HUMAN	Q	431;431;69	ENSP00000365128:P431Q;ENSP00000365130:P431Q;ENSP00000365115:P69Q	ENSP00000365115:P69Q	P	-	2	0	ZCCHC6	88143601	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.788000	0.69020	2.520000	0.84964	0.655000	0.94253	CCA		0.428	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052918.1	NM_024617		8	420	1	0	2.80697e-09	6.40141e-05	4.03593e-07	8	420				
TXNDC2	84203	broad.mit.edu	37	18	9887463	9887463	+	Silent	SNP	C	C	T	rs111251988		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr18:9887463C>T	ENST00000306084.6	+	2	1186	c.987C>T	c.(985-987)atC>atT	p.I329I	TXNDC2_ENST00000357775.5_Silent_p.I262I|TXNDC2_ENST00000536353.2_3'UTR	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	329	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						AGGGTGACATCCCCAAGTCCC	0.592																																						ENST00000306084.6																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						c.(985-987)atC>atT		thioredoxin domain containing 2 (spermatozoa)							138.0	131.0	133.0					18																	9887463		2203	4300	6503	SO:0001819	synonymous_variant	0				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr18:9887463C>T	AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 1"""					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.987C>T	18.37:g.9887463C>T						TXNDC2_ENST00000536353.2_3'UTR|TXNDC2_ENST00000357775.4_Silent_p.I262I	p.I329I	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN			2	1186	+			329			22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.		A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Silent	SNP	ENST00000306084.6	37	c.987C>T	CCDS42414.1																																																																																				0.592	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1			8	476	0	0	0	0.000157383	0	8	476				
ANKRD20A8P	729171	broad.mit.edu	37	2	95514946	95514946	+	RNA	SNP	C	C	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:95514946C>T	ENST00000432432.2	-	0	711				RNU6-1320P_ENST00000390838.1_RNA	NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene									p.R201Q(1)									ACTACTGTACCGTCTCAGCCT	0.308																																						ENST00000432432.2																			1	Substitution - Missense(1)	p.R201Q(1)	prostate(1)																																																0							g.chr2:95514946C>T			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.95514946C>T								NR_040113.1						0	711	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.308	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			12	1369	0	0	0	1.12685e-05	0	12	1369				
CCDC158	339965	broad.mit.edu	37	4	77276555	77276555	+	Silent	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr4:77276555G>T	ENST00000388914.3	-	14	2360	c.2208C>A	c.(2206-2208)atC>atA	p.I736I	RNU6-1000P_ENST00000391066.1_RNA	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	736										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						TTTTGGCTGTGATTTGCTTTT	0.408																																						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.(2206-2208)atC>atA		coiled-coil domain containing 158							238.0	218.0	224.0					4																	77276555		1902	4126	6028	SO:0001819	synonymous_variant	339965							g.chr4:77276555G>T	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.2208C>A	4.37:g.77276555G>T							p.I736I	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN			14	2360	-			736					Q8IYQ1|Q8N7D4|Q8N7E3	Silent	SNP	ENST00000388914.3	37	c.2208C>A	CCDS43242.1																																																																																				0.408	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362694.2	NM_001042784		15	838	1	0	0.000132079	0.000132079	0.00935769	15	838				
ZNF497	162968	broad.mit.edu	37	19	58867557	58867557	+	Missense_Mutation	SNP	C	C	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:58867557C>T	ENST00000311044.3	-	3	1633	c.1445G>A	c.(1444-1446)cGt>cAt	p.R482H	A1BG_ENST00000263100.3_5'Flank|A1BG-AS1_ENST00000600686.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000595302.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|CTD-2619J13.9_ENST00000599952.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|ZNF497_ENST00000425453.3_Missense_Mutation_p.R482H|A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000593374.1_RNA	NM_198458.2	NP_940860.2	Q6ZNH5	ZN497_HUMAN	zinc finger protein 497	482					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|lung(3)|skin(2)	7		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)		GAGGTTGCAACGGTGGCTGAA	0.697																																						ENST00000311044.3																			0				central_nervous_system(2)|lung(3)|skin(2)	7						c.(1444-1446)cGt>cAt		zinc finger protein 497							17.0	18.0	18.0					19																	58867557		2185	4263	6448	SO:0001583	missense	162968				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58867557C>T	AK126727	CCDS12977.1	19q13.43	2013-01-08			ENSG00000174586	ENSG00000174586		"""Zinc fingers, C2H2-type"""	23714	protein-coding gene	gene with protein product							Standard	NM_198458		Approved	FLJ44773	uc002qsi.2	Q6ZNH5		ENST00000311044.3:c.1445G>A	19.37:g.58867557C>T	ENSP00000311183:p.Arg482His					ZNF497_ENST00000425453.3_Missense_Mutation_p.R482H|CTD-2619J13.8_ENST00000599109.1_RNA	p.R482H	NM_198458.2	NP_940860.2	Q6ZNH5	ZN497_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)	3	1633	-		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)	482					Q05AG8|Q0VF48|Q6ZTD2|Q9UIA8	Missense_Mutation	SNP	ENST00000311044.3	37	c.1445G>A	CCDS12977.1	.	.	.	.	.	.	.	.	.	.	C	14.00	2.405179	0.42613	.	.	ENSG00000174586	ENST00000311044;ENST00000425453	T;T	0.36157	1.27;1.27	1.01	-0.157	0.13387	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.31136	0.0787	L	0.38531	1.155	0.09310	N	1	D	0.65815	0.995	P	0.52031	0.688	T	0.13361	-1.0512	9	0.36615	T	0.2	.	2.4784	0.04581	0.0:0.4377:0.3307:0.2316	.	482	Q6ZNH5	ZN497_HUMAN	H	482	ENSP00000311183:R482H;ENSP00000402815:R482H	ENSP00000311183:R482H	R	-	2	0	ZNF497	63559369	0.000000	0.05858	0.268000	0.24571	0.241000	0.25554	-1.396000	0.02513	-0.011000	0.14247	0.195000	0.17529	CGT		0.697	ZNF497-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466942.2	NM_198458		24	97	0	0	0	0.000117367	0	24	97				
HAP1	9001	broad.mit.edu	37	17	39880981	39880981	+	Missense_Mutation	SNP	C	C	A	rs147264849	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr17:39880981C>A	ENST00000310778.5	-	12	1997	c.1988G>T	c.(1987-1989)cGg>cTg	p.R663L	HAP1_ENST00000347901.4_Missense_Mutation_p.R611L|HAP1_ENST00000341193.5_Missense_Mutation_p.R594L|HAP1_ENST00000393939.2_Missense_Mutation_p.R586L|JUP_ENST00000540235.1_Intron			P54257	HAP1_HUMAN	huntingtin-associated protein 1	663					anterograde axon cargo transport (GO:0008089)|autophagy (GO:0006914)|brain development (GO:0007420)|cell projection organization (GO:0030030)|exocytosis (GO:0006887)|negative regulation of beta-amyloid formation (GO:1902430)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|positive regulation of neurotrophin production (GO:0032901)|positive regulation of nonmotile primary cilium assembly (GO:1902857)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|protein localization (GO:0008104)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of organelle transport along microtubule (GO:1902513)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)|vesicle transport along microtubule (GO:0047496)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|inclusion body (GO:0016234)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synapse (GO:0045202)	brain-derived neurotrophic factor binding (GO:0048403)|ion channel binding (GO:0044325)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			GCAGCTTGTCCGGCTGGCGGC	0.617																																						ENST00000393939.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21						c.(1756-1758)cGg>cTg		huntingtin-associated protein 1							78.0	90.0	86.0					17																	39880981		2203	4300	6503	SO:0001583	missense	9001				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding	g.chr17:39880981C>A	AF040723	CCDS11406.1, CCDS42338.1, CCDS42339.1	17q21.2-q21.3	2008-04-23	2008-04-23		ENSG00000173805	ENSG00000173805			4812	protein-coding gene	gene with protein product	"""neuroan 1"""	600947		HAP2		7477378, 9668110	Standard	NM_177977		Approved	HLP, hHLP1, HIP5	uc002hxn.1	P54257	OTTHUMG00000133498	ENST00000310778.5:c.1988G>T	17.37:g.39880981C>A	ENSP00000309392:p.Arg663Leu					HAP1_ENST00000310778.5_Missense_Mutation_p.R663L|HAP1_ENST00000341193.5_Missense_Mutation_p.R594L|JUP_ENST00000540235.1_Intron|HAP1_ENST00000347901.4_Missense_Mutation_p.R611L	p.R586L			P54257	HAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.0677)		10	1766	-		Breast(137;0.000162)	663			Glu-rich.		A8MQB5|O75358|Q59GK4|Q9H4G3|Q9HA98|Q9NY90	Missense_Mutation	SNP	ENST00000310778.5	37	c.1757G>T		.	.	.	.	.	.	.	.	.	.	C	4.467	0.086539	0.08583	.	.	ENSG00000173805	ENST00000393939;ENST00000310778;ENST00000347901;ENST00000341193	T;T;T;T	0.05925	3.37;3.63;3.5;3.38	3.87	-3.79	0.04320	.	3.455040	0.00822	N	0.001599	T	0.03011	0.0089	N	0.03608	-0.345	0.19945	N	0.999941	B;B;B;B	0.06786	0.001;0.001;0.001;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.0	T	0.40627	-0.9553	10	0.44086	T	0.13	-0.0494	4.4024	0.11393	0.1562:0.3476:0.0:0.4962	.	586;594;611;663	P54257-3;P54257-4;P54257-2;P54257	.;.;.;HAP1_HUMAN	L	586;663;611;594	ENSP00000377513:R586L;ENSP00000309392:R663L;ENSP00000334002:R611L;ENSP00000343170:R594L	ENSP00000309392:R663L	R	-	2	0	HAP1	37134507	0.007000	0.16637	0.087000	0.20705	0.043000	0.13939	-2.788000	0.00768	-0.824000	0.04295	-1.337000	0.01257	CGG		0.617	HAP1-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000389619.1	NM_003949		9	810	1	0	0.00010058	0.00010058	0.0072096	9	810				
CSDE1	7812	broad.mit.edu	37	1	115282502	115282502	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:115282502C>A	ENST00000358528.4	-	3	436	c.10G>T	c.(10-12)Gat>Tat	p.D4Y	CSDE1_ENST00000530886.1_Intron|CSDE1_ENST00000261443.5_Missense_Mutation_p.D4Y|CSDE1_ENST00000369530.1_Missense_Mutation_p.D50Y|CSDE1_ENST00000438362.2_Missense_Mutation_p.D50Y|CSDE1_ENST00000534699.1_Missense_Mutation_p.D4Y|CSDE1_ENST00000339438.6_Missense_Mutation_p.D4Y	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	4					male gonad development (GO:0008584)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|regulation of transcription, DNA-templated (GO:0006355)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGGTTTGGATCAAAGCTCATC	0.343																																						ENST00000438362.2																			0				NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51						c.(148-150)Gat>Tat		cold shock domain containing E1, RNA-binding							225.0	233.0	230.0					1																	115282502		2203	4300	6503	SO:0001583	missense	7812				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding	g.chr1:115282502C>A		CCDS30811.1, CCDS30812.1, CCDS44197.1, CCDS55626.1	1p13.2	2011-11-02			ENSG00000009307	ENSG00000009307			29905	protein-coding gene	gene with protein product	"""upstream of NRAS"""	191510				2204029, 10048485	Standard	NM_007158		Approved	D1S155E, UNR	uc001efi.3	O75534	OTTHUMG00000012060	ENST00000358528.4:c.10G>T	1.37:g.115282502C>A	ENSP00000351329:p.Asp4Tyr					CSDE1_ENST00000534699.1_Missense_Mutation_p.D4Y|CSDE1_ENST00000369530.1_Missense_Mutation_p.D50Y|CSDE1_ENST00000261443.5_Missense_Mutation_p.D4Y|CSDE1_ENST00000358528.4_Missense_Mutation_p.D4Y|CSDE1_ENST00000339438.6_Missense_Mutation_p.D4Y|CSDE1_ENST00000530886.1_Intron	p.D50Y	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	526	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	4			CSD 1.		A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4	Missense_Mutation	SNP	ENST00000358528.4	37	c.148G>T	CCDS30812.1	.	.	.	.	.	.	.	.	.	.	C	18.77	3.695537	0.68386	.	.	ENSG00000009307	ENST00000339438;ENST00000438362;ENST00000358528;ENST00000261443;ENST00000369530;ENST00000534699;ENST00000534389;ENST00000525878;ENST00000525970	.	.	.	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.69459	0.3113	L	0.36672	1.1	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.85130	0.997;0.993;0.997	T	0.71167	-0.4672	9	0.87932	D	0	-4.3184	20.4324	0.99085	0.0:1.0:0.0:0.0	.	50;4;50	E9PGZ0;O75534;G5E9Q2	.;CSDE1_HUMAN;.	Y	4;50;4;4;50;4;4;4;4	.	ENSP00000261443:D4Y	D	-	1	0	CSDE1	115084025	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.833000	0.97629	0.585000	0.79938	GAT		0.343	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033397.1	NM_007158		16	1384	1	0	1.49906e-05	1.49906e-05	0.00153956	16	1384				
FANCD2	2177	broad.mit.edu	37	3	10108928	10108928	+	Missense_Mutation	SNP	G	G	T	rs34414402		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:10108928G>T	ENST00000419585.1	+	26	2582	c.2421G>T	c.(2419-2421)gaG>gaT	p.E807D	FANCD2_ENST00000287647.3_Missense_Mutation_p.E807D|FANCD2_ENST00000383806.1_Missense_Mutation_p.E807D|FANCD2_ENST00000383807.1_Missense_Mutation_p.E807D			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	807					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		CATCACCTGAGATGAAGGGGA	0.373			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000287647.3			yes	Rec		Fanconi anaemia D2	3	3p26	2177	"""D, Mis, N, F"""	"""Fanconi anemia, complementation group D2"""			L		"""AML, leukemia"""			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51						c.(2419-2421)gaG>gaT	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group D2							89.0	77.0	81.0					3																	10108928		2203	4300	6503	SO:0001583	missense	2177	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding	g.chr3:10108928G>T	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.2421G>T	3.37:g.10108928G>T	ENSP00000398754:p.Glu807Asp					FANCD2_ENST00000419585.1_Missense_Mutation_p.E807D|FANCD2_ENST00000383806.1_Missense_Mutation_p.E807D|FANCD2_ENST00000383807.1_Missense_Mutation_p.E807D	p.E807D	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	26	2514	+			807					Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Missense_Mutation	SNP	ENST00000419585.1	37	c.2421G>T	CCDS33696.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.680121	0.47886	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000383806;ENST00000419585	T;T;T;T	0.58940	0.3;0.3;0.3;0.3	5.44	4.51	0.55191	.	0.095731	0.64402	D	0.000001	T	0.40473	0.1118	L	0.29908	0.895	0.35906	D	0.830736	P;P	0.34587	0.458;0.458	B;B	0.33750	0.169;0.169	T	0.45190	-0.9278	10	0.21540	T	0.41	.	8.4757	0.33012	0.0:0.1664:0.6614:0.1722	.	807;807	Q9BXW9-2;Q9BXW9	.;FACD2_HUMAN	D	807	ENSP00000287647:E807D;ENSP00000373318:E807D;ENSP00000373317:E807D;ENSP00000398754:E807D	ENSP00000287647:E807D	E	+	3	2	FANCD2	10083928	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	2.991000	0.49409	2.571000	0.86741	0.585000	0.79938	GAG		0.373	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1			6	208	1	0	6.40141e-05	6.40141e-05	0.00496729	6	208				
FBXO36	130888	broad.mit.edu	37	2	230861544	230861544	+	Nonsense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:230861544G>T	ENST00000283946.3	+	3	301	c.283G>T	c.(283-285)Gaa>Taa	p.E95*	FBXO36_ENST00000373652.3_Nonsense_Mutation_p.E64*|FBXO36_ENST00000409992.1_Nonsense_Mutation_p.E75*	NM_174899.4	NP_777559.3	Q8NEA4	FBX36_HUMAN	F-box protein 36	95	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.									endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	7		Renal(207;0.0112)|all_lung(227;0.0179)|Lung NSC(271;0.0804)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;7.56e-14)|all cancers(144;7.74e-11)|Lung(119;0.00488)|LUSC - Lung squamous cell carcinoma(224;0.008)		TGACTTCCTTGAACGGCTCTC	0.373																																						ENST00000373652.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	7						c.(190-192)Gaa>Taa		F-box protein 36							188.0	182.0	184.0					2																	230861544		2203	4300	6503	SO:0001587	stop_gained	130888							g.chr2:230861544G>T	BC033935	CCDS2472.1	2q37.1	2008-02-05	2004-06-15		ENSG00000153832	ENSG00000153832		"""F-boxes /  ""other"""""	27020	protein-coding gene	gene with protein product		609105	"""F-box only protein 36"""			12477932	Standard	NM_174899		Approved	Fbx36, FLJ37592	uc002vqa.3	Q8NEA4	OTTHUMG00000133206	ENST00000283946.3:c.283G>T	2.37:g.230861544G>T	ENSP00000283946:p.Glu95*					FBXO36_ENST00000409992.1_Nonsense_Mutation_p.E75*|FBXO36_ENST00000283946.3_Nonsense_Mutation_p.E95*	p.E64*			Q8NEA4	FBX36_HUMAN		Epithelial(121;7.56e-14)|all cancers(144;7.74e-11)|Lung(119;0.00488)|LUSC - Lung squamous cell carcinoma(224;0.008)	4	611	+		Renal(207;0.0112)|all_lung(227;0.0179)|Lung NSC(271;0.0804)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)	95					B3KVQ6|Q53TE6|Q8WWD4	Nonsense_Mutation	SNP	ENST00000283946.3	37	c.190G>T	CCDS2472.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.739936	0.89573	.	.	ENSG00000153832	ENST00000373652;ENST00000283946;ENST00000409992	.	.	.	5.37	5.37	0.77165	.	0.068618	0.56097	D	0.000029	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	-12.5523	17.8809	0.88840	0.0:0.0:1.0:0.0	.	.	.	.	X	64;95;75	.	ENSP00000283946:E95X	E	+	1	0	FBXO36	230569788	1.000000	0.71417	0.999000	0.59377	0.930000	0.56654	4.277000	0.58939	2.518000	0.84900	0.561000	0.74099	GAA		0.373	FBXO36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256919.2	NM_174899		12	856	1	0	0.000151284	0.000151284	0.00973904	12	856				
FAM208B	54906	broad.mit.edu	37	10	5789164	5789164	+	Silent	SNP	C	C	A	rs199707358		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr10:5789164C>A	ENST00000328090.5	+	15	4405	c.3780C>A	c.(3778-3780)atC>atA	p.I1260I		NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	1260																	CAGTATTTATCAAACAAACAA	0.393																																						ENST00000328090.5																			0											c.(3778-3780)atC>atA		family with sequence similarity 208, member B							69.0	72.0	71.0					10																	5789164		1881	4115	5996	SO:0001819	synonymous_variant	54906							g.chr10:5789164C>A	BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.3780C>A	10.37:g.5789164C>A							p.I1260I	NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN			15	4405	+			1260					Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Silent	SNP	ENST00000328090.5	37	c.3780C>A	CCDS41485.1																																																																																				0.393	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782		14	513	1	0	4.35082e-09	1.64113e-05	6.21912e-07	14	513				
BMS1P20	96610	broad.mit.edu	37	22	22664141	22664141	+	RNA	SNP	G	G	A	rs369590722		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr22:22664141G>A	ENST00000426066.1	+	0	664					NR_027293.1				BMS1 pseudogene 20																		AAATTTGAAGGTGCTGTGATT	0.448																																						ENST00000426066.1																			0																																																			0							g.chr22:22664141G>A			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664141G>A								NR_027293.1						0	664	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.448	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			7	410	0	0	0	2.17888e-05	0	7	410				
AGTPBP1	23287	broad.mit.edu	37	9	88287535	88287535	+	Silent	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr9:88287535G>T	ENST00000357081.3	-	7	642	c.498C>A	c.(496-498)gtC>gtA	p.V166V	AGTPBP1_ENST00000376081.4_Silent_p.V166V|AGTPBP1_ENST00000376083.3_Silent_p.V166V|AGTPBP1_ENST00000491784.1_5'UTR|AGTPBP1_ENST00000376080.1_Silent_p.V108V|AGTPBP1_ENST00000432218.1_Intron|AGTPBP1_ENST00000376109.3_Silent_p.V218V|AGTPBP1_ENST00000337006.4_Silent_p.V108V			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	166					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						AATTCTGCTTGACCAAATTCA	0.348																																						ENST00000357081.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						c.(496-498)gtC>gtA		ATP/GTP binding protein 1							98.0	99.0	99.0					9																	88287535		2203	4300	6503	SO:0001819	synonymous_variant	23287				C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr9:88287535G>T	AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 1"", ""tubulinyl-Tyr carboxypeptidase"", ""carboxypeptidase-tubulin"", ""tyrosine carboxypeptidase"", ""soluble carboxypeptidase"""	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.498C>A	9.37:g.88287535G>T						AGTPBP1_ENST00000376081.4_Silent_p.V166V|AGTPBP1_ENST00000376109.3_Silent_p.V218V|AGTPBP1_ENST00000337006.4_Silent_p.V108V|AGTPBP1_ENST00000376080.1_Silent_p.V108V|AGTPBP1_ENST00000432218.1_Intron|AGTPBP1_ENST00000376083.3_Silent_p.V166V|AGTPBP1_ENST00000491784.1_5'UTR	p.V166V			Q9UPW5	CBPC1_HUMAN			7	642	-			166					B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Silent	SNP	ENST00000357081.3	37	c.498C>A																																																																																					0.348	AGTPBP1-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052893.1	NM_015239		15	912	1	0	1.49906e-05	1.49906e-05	0.00153956	15	912				
PTPRK	5796	broad.mit.edu	37	6	128404925	128404925	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr6:128404925C>A	ENST00000368215.3	-	9	1509	c.1510G>T	c.(1510-1512)Gaa>Taa	p.E504*	PTPRK_ENST00000368210.3_Nonsense_Mutation_p.E504*|PTPRK_ENST00000368213.5_Nonsense_Mutation_p.E504*|PTPRK_ENST00000532331.1_Nonsense_Mutation_p.E504*|RP11-103C16.2_ENST00000417390.1_RNA|PTPRK_ENST00000368226.4_Nonsense_Mutation_p.E504*|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368227.3_Nonsense_Mutation_p.E504*|PTPRK_ENST00000368207.3_Nonsense_Mutation_p.E504*			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	504	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		ATCTTATTTTCAAAGGATGTT	0.348																																						ENST00000368227.3																		PTPRK/RSPO3(10)	0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						c.(1510-1512)Gaa>Taa		protein tyrosine phosphatase, receptor type, K							104.0	103.0	103.0					6																	128404925		2203	4299	6502	SO:0001587	stop_gained	5796				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr6:128404925C>A	L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.1510G>T	6.37:g.128404925C>A	ENSP00000357198:p.Glu504*					PTPRK_ENST00000368213.5_Nonsense_Mutation_p.E504*|PTPRK_ENST00000368215.3_Nonsense_Mutation_p.E504*|PTPRK_ENST00000368226.4_Nonsense_Mutation_p.E504*|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368207.3_Nonsense_Mutation_p.E504*|PTPRK_ENST00000368210.3_Nonsense_Mutation_p.E504*|RP11-103C16.2_ENST00000417390.1_RNA|PTPRK_ENST00000532331.1_Nonsense_Mutation_p.E504*	p.E504*			Q15262	PTPRK_HUMAN		all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)	9	1876	-			504			Fibronectin type-III 3.		B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Nonsense_Mutation	SNP	ENST00000368215.3	37	c.1510G>T		.	.	.	.	.	.	.	.	.	.	C	39	7.548767	0.98352	.	.	ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207;ENST00000427676	.	.	.	6.02	5.15	0.70609	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	16.7022	0.85357	0.1306:0.8694:0.0:0.0	.	.	.	.	X	504;504;504;504;504;504;504;361	.	ENSP00000357190:E504X	E	-	1	0	PTPRK	128446618	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.625000	0.83145	1.527000	0.49086	-0.188000	0.12872	GAA		0.348	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1			7	421	1	0	0.000157383	0.000157383	0.00973904	7	421				
SI	6476	broad.mit.edu	37	3	164757744	164757744	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:164757744C>A	ENST00000264382.3	-	19	2237	c.2175G>T	c.(2173-2175)acG>acT	p.T725T		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	725	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TCCAGCTGTTCGTATCCTCAT	0.333										HNSCC(35;0.089)																												ENST00000264382.3																			0				NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.(2173-2175)acG>acT		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)						119.0	122.0	121.0					3																	164757744		2203	4300	6503	SO:0001819	synonymous_variant	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164757744C>A	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.2175G>T	3.37:g.164757744C>A		HNSCC(35;0.089)					p.T725T	NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN			19	2237	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	725			Isomaltase.		A2RUC3|Q1JQ80|Q1RMC2	Silent	SNP	ENST00000264382.3	37	c.2175G>T	CCDS3196.1																																																																																				0.333	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		10	859	1	0	2.17888e-05	2.17888e-05	0.00213033	10	859				
KIF20B	9585	broad.mit.edu	37	10	91483759	91483759	+	Silent	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr10:91483759G>T	ENST00000371728.3	+	14	1826	c.1761G>T	c.(1759-1761)ctG>ctT	p.L587L	KIF20B_ENST00000260753.4_Silent_p.L587L|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000394289.2_Silent_p.L587L|KIF20B_ENST00000416354.1_Silent_p.L587L	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	587					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						AAAAAAAACTGATAAATGAAA	0.289																																						ENST00000416354.1																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						c.(1759-1761)ctG>ctT		kinesin family member 20B							40.0	48.0	45.0					10																	91483759		2179	4288	6467	SO:0001819	synonymous_variant	9585				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding	g.chr10:91483759G>T	L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.1761G>T	10.37:g.91483759G>T						KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000371728.3_Silent_p.L587L|KIF20B_ENST00000394289.2_Silent_p.L587L|KIF20B_ENST00000260753.4_Silent_p.L587L	p.L587L			Q96Q89	KI20B_HUMAN			14	1833	+			587					A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Silent	SNP	ENST00000371728.3	37	c.1761G>T																																																																																					0.289	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195		10	486	1	0	2.27111e-07	0.00010058	3.11869e-05	10	486				
MTR	4548	broad.mit.edu	37	1	237024431	237024431	+	Nonsense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:237024431G>T	ENST00000366577.5	+	20	2444	c.2050G>T	c.(2050-2052)Gaa>Taa	p.E684*	MTR_ENST00000535889.1_Intron	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	684	B12-binding N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00666}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	ttAGGGCATTGAAAAACATAT	0.323																																						ENST00000366577.5																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67						c.(2050-2052)Gaa>Taa		5-methyltetrahydrofolate-homocysteine methyltransferase	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)						35.0	35.0	35.0					1																	237024431		2199	4298	6497	SO:0001587	stop_gained	4548				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding	g.chr1:237024431G>T	U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.2050G>T	1.37:g.237024431G>T	ENSP00000355536:p.Glu684*					MTR_ENST00000535889.1_Intron	p.E684*	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	20	2444	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	684			B12-binding N-terminal.		A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Nonsense_Mutation	SNP	ENST00000366577.5	37	c.2050G>T	CCDS1614.1	.	.	.	.	.	.	.	.	.	.	G	37	6.200572	0.97371	.	.	ENSG00000116984	ENST00000417743;ENST00000366577;ENST00000366576	.	.	.	5.43	5.43	0.79202	.	0.102591	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-26.8753	19.4279	0.94751	0.0:0.0:1.0:0.0	.	.	.	.	X	538;684;238	.	ENSP00000355535:E238X	E	+	1	0	MTR	235091054	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.827000	0.99397	2.824000	0.97209	0.655000	0.94253	GAA		0.323	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096632.2	NM_000254		12	238	1	0	8.34094e-07	0.000132079	0.000111408	12	238				
HERC2	8924	broad.mit.edu	37	15	28370319	28370319	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr15:28370319C>A	ENST00000261609.7	-	84	12931	c.12823G>T	c.(12823-12825)Gac>Tac	p.D4275Y		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TCATCATTGTCGCCCCATGTA	0.522																																						ENST00000261609.7																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(12823-12825)Gac>Tac		HECT and RLD domain containing E3 ubiquitin protein ligase 2							211.0	191.0	198.0					15																	28370319		2203	4300	6503	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28370319C>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.12823G>T	15.37:g.28370319C>A	ENSP00000261609:p.Asp4275Tyr						p.D4275Y	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	84	12931	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	4275						Missense_Mutation	SNP	ENST00000261609.7	37	c.12823G>T	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.814952	0.90790	.	.	ENSG00000128731	ENST00000261609	D	0.84730	-1.89	5.19	5.19	0.71726	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.88415	0.6430	L	0.28192	0.835	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90196	0.4253	10	0.87932	D	0	.	18.7201	0.91689	0.0:1.0:0.0:0.0	.	4275	O95714	HERC2_HUMAN	Y	4275	ENSP00000261609:D4275Y	ENSP00000261609:D4275Y	D	-	1	0	HERC2	26043914	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	7.808000	0.86044	2.408000	0.81797	0.655000	0.94253	GAC		0.522	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		10	1162	1	0	0.000157383	0.000157383	0.00973904	10	1162				
CEP57L1	285753	broad.mit.edu	37	6	109480272	109480272	+	Silent	SNP	A	A	G			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr6:109480272A>G	ENST00000517392.1	+	8	1215	c.789A>G	c.(787-789)tcA>tcG	p.S263S	CEP57L1_ENST00000359793.3_Silent_p.S263S|CEP57L1_ENST00000520883.1_Silent_p.S187S|CEP57L1_ENST00000521522.1_Silent_p.S234S|CEP57L1_ENST00000407272.1_Silent_p.S263S|CEP57L1_ENST00000336977.4_Silent_p.S187S|CEP57L1_ENST00000523787.1_Silent_p.S266S|CEP57L1_ENST00000368968.2_Silent_p.S263S|CEP57L1_ENST00000368970.2_Silent_p.S263S	NM_001271852.1|NM_001271853.1	NP_001258781.1|NP_001258782.1	Q8IYX8	CE57L_HUMAN	centrosomal protein 57kDa-like 1	263					microtubule anchoring (GO:0034453)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)	11						AAATTTGTTCAAAGTTTGGAG	0.328																																						ENST00000407272.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)	11						c.(787-789)tcA>tcG		centrosomal protein 57kDa-like 1							70.0	73.0	72.0					6																	109480272		2203	4300	6503	SO:0001819	synonymous_variant	285753					microtubule|microtubule organizing center		g.chr6:109480272A>G	AK092723	CCDS5071.1, CCDS64491.1	6q21	2014-01-28	2010-09-30	2010-09-30	ENSG00000183137	ENSG00000183137			21561	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 182"""	C6orf182			Standard	NM_001083535		Approved	bA487F23.2, MGC21731	uc003psy.4	Q8IYX8	OTTHUMG00000015336	ENST00000517392.1:c.789A>G	6.37:g.109480272A>G						CEP57L1_ENST00000368968.2_Silent_p.S263S|CEP57L1_ENST00000336977.4_Silent_p.S187S|CEP57L1_ENST00000523787.1_Silent_p.S266S|CEP57L1_ENST00000368970.2_Silent_p.S263S|CEP57L1_ENST00000520883.1_Silent_p.S187S|CEP57L1_ENST00000359793.3_Silent_p.S263S|CEP57L1_ENST00000517392.1_Silent_p.S263S|CEP57L1_ENST00000521522.1_Silent_p.S234S	p.S263S	NM_001083535.1	NP_001077004.1	Q8IYX8	CE57L_HUMAN			10	1366	+			263					G5E992	Silent	SNP	ENST00000517392.1	37	c.789A>G	CCDS5071.1																																																																																				0.328	CEP57L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041734.4	NM_173830		10	856	0	0	0	6.40141e-05	0	10	856				
PTGES3L	100885848	broad.mit.edu	37	17	41122314	41122314	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr17:41122314C>A	ENST00000453594.1	-	5	799	c.454G>T	c.(454-456)Gat>Tat	p.D152Y	PTGES3L-AARSD1_ENST00000360221.4_Missense_Mutation_p.D124Y|PTGES3L-AARSD1_ENST00000421990.2_Missense_Mutation_p.D185Y|PTGES3L-AARSD1_ENST00000409399.1_Missense_Mutation_p.D185Y|PTGES3L_ENST00000409446.3_Missense_Mutation_p.D147Y|PTGES3L-AARSD1_ENST00000409103.1_Missense_Mutation_p.D94Y	NM_001142653.1|NM_001261430.1	NP_001136125.1|NP_001248359.1	E9PB15	PTG3L_HUMAN	prostaglandin E synthase 3 (cytosolic)-like	152	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.							p.D124N(1)									ACATCCAAATCATCCATGGCA	0.453																																						ENST00000421990.2																			1	Substitution - Missense(1)	p.D124N(1)	lung(1)								c.(553-555)Gat>Tat									286.0	290.0	289.0					17																	41122314		2203	4300	6503	SO:0001583	missense	0							g.chr17:41122314C>A		CCDS45692.1	17q21.31	2012-10-05				ENSG00000267060			43943	protein-coding gene	gene with protein product							Standard	NM_001142653		Approved			E9PB15	OTTHUMG00000180906	ENST00000453594.1:c.454G>T	17.37:g.41122314C>A	ENSP00000394415:p.Asp152Tyr					PTGES3L-AARSD1_ENST00000409103.1_Missense_Mutation_p.D94Y|PTGES3L-AARSD1_ENST00000409399.1_Missense_Mutation_p.D185Y|PTGES3L-AARSD1_ENST00000360221.4_Missense_Mutation_p.D124Y|PTGES3L_ENST00000409446.3_Missense_Mutation_p.D147Y|PTGES3L_ENST00000453594.1_Missense_Mutation_p.D152Y	p.D185Y	NM_001136042.2	NP_001129514.2					6	898	-									Missense_Mutation	SNP	ENST00000453594.1	37	c.553G>T		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	20.2|20.2|20.2	3.958164|3.958164|3.958164	0.73902|0.73902|0.73902	.|.|.	.|.|.	ENSG00000108825|ENSG00000108825|ENSG00000108825	ENST00000360221;ENST00000409399;ENST00000421990;ENST00000409103;ENST00000454303;ENST00000453594;ENST00000409446|ENST00000424284|ENST00000452752	T;T;T;T|.|.	0.72282|.|.	-0.64;-0.64;-0.64;-0.64|.|.	5.15|5.15|5.15	5.15|5.15|5.15	0.70609|0.70609|0.70609	.|.|.	0.154247|.|.	0.45126|.|.	D|.|.	0.000395|.|.	T|T|.	0.61173|0.61173|.	0.2326|0.2326|.	L|L|L	0.38175|0.38175|0.38175	1.15|1.15|1.15	.|.|.	.|.|.	.|.|.	D;D;D;D;D|.|.	0.89917|.|.	1.0;1.0;0.998;1.0;1.0|.|.	D;D;D;D;D|.|.	0.76575|.|.	0.988;0.988;0.948;0.977;0.977|.|.	T|T|.	0.56854|0.56854|.	-0.7910|-0.7910|.	9|4|.	0.52906|.|.	T|.|.	0.07|.|.	-25.4221|-25.4221|-25.4221	18.835|18.835|18.835	0.92159|0.92159|0.92159	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	152;147;185;94;142|.|.	E9PB15;B9A003;B4DI73;C9J5N1;B3KSP9|.|.	.;.;.;.;.|.|.	Y|I|L	124;185;185;94;124;152;147|113|113	ENSP00000353355:D124Y;ENSP00000386621:D185Y;ENSP00000409924:D185Y;ENSP00000386254:D94Y|.|.	ENSP00000353355:D124Y|.|.	D|M|X	-|-|-	1|3|2	0|0|2	AARSD1|AARSD1|AARSD1	38375840|38375840|38375840	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.886000|0.886000|0.886000	0.51366|0.51366|0.51366	5.206000|5.206000|5.206000	0.65192|0.65192|0.65192	2.674000|2.674000|2.674000	0.91012|0.91012|0.91012	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAT|ATG|TGA		0.453	PTGES3L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001142653		22	1397	1	0	0.000151284	0.000151284	0.00973904	22	1397				
ASPN	54829	broad.mit.edu	37	9	95232987	95232987	+	Silent	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr9:95232987G>T	ENST00000375544.3	-	3	594	c.351C>A	c.(349-351)atC>atA	p.I117I	CENPP_ENST00000375587.3_Intron|ASPN_ENST00000395538.3_Silent_p.I117I|ASPN_ENST00000375543.1_Silent_p.I117I	NM_017680.4	NP_060150	Q9BXN1	ASPN_HUMAN	asporin	117					bone mineralization (GO:0030282)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						CATTTTCTTTGATTTCCTTAA	0.289																																						ENST00000375544.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						c.(349-351)atC>atA		asporin							79.0	83.0	81.0					9																	95232987		2202	4289	6491	SO:0001819	synonymous_variant	54829				bone mineralization|negative regulation of tooth mineralization|negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	calcium ion binding	g.chr9:95232987G>T	AF316824		9q22.31	2008-05-14	2007-02-15		ENSG00000106819	ENSG00000106819		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	14872	protein-coding gene	gene with protein product	"""asporin proteoglycan"""	608135	"""asporin (LRR class 1)"""				Standard	NM_017680		Approved	FLJ20129, SLRR1C, PLAP1	uc004ase.2	Q9BXN1	OTTHUMG00000020227	ENST00000375544.3:c.351C>A	9.37:g.95232987G>T						ASPN_ENST00000375543.1_Silent_p.I117I|ASPN_ENST00000395538.3_Silent_p.I117I|CENPP_ENST00000375587.3_Intron	p.I117I	NM_017680.4	NP_060150.4	Q9BXN1	ASPN_HUMAN			3	594	-			117					Q5TBF3|Q96K79|Q96LD0|Q9NXP3	Silent	SNP	ENST00000375544.3	37	c.351C>A																																																																																					0.289	ASPN-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053094.1	NM_017680		14	540	1	0	1.49906e-05	1.49906e-05	0.00153956	14	540				
ZNF441	126068	broad.mit.edu	37	19	11892184	11892184	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:11892184C>A	ENST00000357901.4	+	4	1647	c.1545C>A	c.(1543-1545)ccC>ccA	p.P515P	ZNF441_ENST00000454339.2_Silent_p.P448P	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	515					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTGATTCTCCCAGTTCATTTC	0.403																																						ENST00000357901.4																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1543-1545)ccC>ccA		zinc finger protein 441							76.0	76.0	76.0					19																	11892184		2203	4299	6502	SO:0001819	synonymous_variant	126068				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11892184C>A	AK095956	CCDS12266.2	19p13.13	2013-01-08			ENSG00000197044	ENSG00000197044		"""Zinc fingers, C2H2-type"", ""-"""	20875	protein-coding gene	gene with protein product							Standard	NM_152355		Approved	FLJ38637	uc010dyj.3	Q8N8Z8	OTTHUMG00000154449	ENST00000357901.4:c.1545C>A	19.37:g.11892184C>A						ZNF441_ENST00000454339.2_Silent_p.P448P	p.P515P	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN			4	1647	+			515						Silent	SNP	ENST00000357901.4	37	c.1545C>A	CCDS12266.2																																																																																				0.403	ZNF441-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335273.3	NM_152355		9	574	1	0	6.40141e-05	6.40141e-05	0.00496729	9	574				
ADAMTS2	9509	broad.mit.edu	37	5	178552049	178552049	+	Silent	SNP	G	G	A	rs370397254		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr5:178552049G>A	ENST00000251582.7	-	19	2984	c.2883C>T	c.(2881-2883)gaC>gaT	p.D961D		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	961	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CGGGCCGGGCGTCATTGCAGT	0.701																																						ENST00000251582.7																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72						c.(2881-2883)gaC>gaT		ADAM metallopeptidase with thrombospondin type 1 motif, 2		G		0,4406		0,0,2203	74.0	78.0	76.0		2883	2.0	0.4	5		76	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ADAMTS2	NM_014244.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		961/1212	178552049	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178552049G>A	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.2883C>T	5.37:g.178552049G>A							p.D961D	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	19	2984	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	961			TSP type-1 3.			Silent	SNP	ENST00000251582.7	37	c.2883C>T	CCDS4444.1																																																																																				0.701	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		65	616	0	0	0	0.000147903	0	65	616				
ABCA7	10347	broad.mit.edu	37	19	1045184	1045184	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:1045184C>A	ENST00000263094.6	+	12	1630	c.1399C>A	c.(1399-1401)Cgc>Agc	p.R467S	ABCA7_ENST00000435683.2_Missense_Mutation_p.R329S|ABCA7_ENST00000433129.1_Missense_Mutation_p.R467S	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	467					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CATCAAAATCCGCATGGACAT	0.642																																						ENST00000263094.6																			0				NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65						c.(1399-1401)Cgc>Agc		ATP-binding cassette, sub-family A (ABC1), member 7							43.0	44.0	44.0					19																	1045184		2202	4299	6501	SO:0001583	missense	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1045184C>A	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.1399C>A	19.37:g.1045184C>A	ENSP00000263094:p.Arg467Ser					ABCA7_ENST00000433129.1_Missense_Mutation_p.R467S|ABCA7_ENST00000435683.2_Missense_Mutation_p.R329S	p.R467S	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	12	1630	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	467					Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	37	c.1399C>A	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.592794	0.86953	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.98762	-5.12;-5.12	4.66	4.66	0.58398	.	.	.	.	.	D	0.99108	0.9693	M	0.85630	2.765	0.40486	D	0.980498	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99869	1.1093	9	0.87932	D	0	.	15.007	0.71519	0.0:1.0:0.0:0.0	.	329;467	Q8IZY2-2;Q8IZY2	.;ABCA7_HUMAN	S	467	ENSP00000263094:R467S;ENSP00000414062:R467S	ENSP00000263094:R467S	R	+	1	0	ABCA7	996184	0.996000	0.38824	1.000000	0.80357	0.911000	0.54048	3.113000	0.50376	2.118000	0.64928	0.462000	0.41574	CGC		0.642	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		8	565	1	0	3.86212e-05	3.86212e-05	0.00332401	8	565				
ENAH	55740	broad.mit.edu	37	1	225718263	225718263	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:225718263G>T	ENST00000366844.3	-	4	878	c.427C>A	c.(427-429)Caa>Aaa	p.Q143K	ENAH_ENST00000366843.2_Missense_Mutation_p.Q143K|ENAH_ENST00000284563.6_Missense_Mutation_p.Q162K|ENAH_ENST00000391874.2_5'UTR	NM_001008493.1|NM_018212.4	NP_001008493.1|NP_060682.2	Q8N8S7	ENAH_HUMAN	enabled homolog (Drosophila)	143					actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|intracellular transport (GO:0046907)|neural tube closure (GO:0001843)|T cell receptor signaling pathway (GO:0050852)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)|synapse (GO:0045202)	WW domain binding (GO:0050699)			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		TACCTTCTTTGAATTTCCAAT	0.358																																						ENST00000366844.2																			0				NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(427-429)Caa>Aaa		enabled homolog (Drosophila)							140.0	148.0	145.0					1																	225718263		2203	4300	6503	SO:0001583	missense	55740				axon guidance|intracellular transport|T cell receptor signaling pathway	cytosol|filopodium|focal adhesion|lamellipodium|synapse	actin binding|SH3 domain binding|WW domain binding	g.chr1:225718263G>T	AK001635	CCDS31040.1, CCDS31041.1	1q32.2	2013-08-06			ENSG00000154380	ENSG00000154380			18271	protein-coding gene	gene with protein product	"""mammalian enabled"""	609061				1420303	Standard	XM_005273182		Approved	FLJ10773, NDPP1, MENA	uc001hpc.1	Q8N8S7	OTTHUMG00000037742	ENST00000366844.3:c.427C>A	1.37:g.225718263G>T	ENSP00000355809:p.Gln143Lys					ENAH_ENST00000391874.2_5'UTR|ENAH_ENST00000366843.2_Missense_Mutation_p.Q143K|ENAH_ENST00000284563.6_Missense_Mutation_p.Q162K	p.Q143K	NM_001008493.1	NP_001008493.1	Q8N8S7	ENAH_HUMAN		GBM - Glioblastoma multiforme(131;0.19)	4	878	-	Breast(184;0.206)		143					D0PQI2|Q502W5|Q5T5M7|Q5VTQ9|Q5VTR0|Q9NVF3|Q9UFB8	Missense_Mutation	SNP	ENST00000366844.3	37	c.427C>A	CCDS31041.1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.309196	0.60414	.	.	ENSG00000154380	ENST00000366844;ENST00000366843;ENST00000284563;ENST00000538194	T;T;T	0.44881	1.13;1.13;0.91	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.56529	0.1991	L	0.32530	0.975	0.80722	D	1	D;D	0.58268	0.982;0.969	D;D	0.70227	0.968;0.93	T	0.55477	-0.8135	10	0.56958	D	0.05	-16.017	19.9859	0.97351	0.0:0.0:1.0:0.0	.	143;143	Q8N8S7-2;Q8N8S7	.;ENAH_HUMAN	K	143;143;162;142	ENSP00000355809:Q143K;ENSP00000355808:Q143K;ENSP00000284563:Q162K	ENSP00000284563:Q162K	Q	-	1	0	ENAH	223784886	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.558000	0.82253	2.717000	0.92951	0.555000	0.69702	CAA		0.358	ENAH-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000357426.2	NM_018212		12	612	1	0	5.35267e-07	9.7654e-05	7.22847e-05	12	612				
RREB1	6239	broad.mit.edu	37	6	7182158	7182158	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr6:7182158C>A	ENST00000349384.6	+	4	328	c.14C>A	c.(13-15)tCg>tAg	p.S5*	RP11-405O10.2_ENST00000451355.2_RNA|RREB1_ENST00000334984.6_Nonsense_Mutation_p.S5*|RREB1_ENST00000379938.2_Nonsense_Mutation_p.S5*|RREB1_ENST00000379933.3_Nonsense_Mutation_p.S5*	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	5					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				ACGTCAAGTTCGCCCGCTGGC	0.498																																						ENST00000379938.2																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(13-15)tCg>tAg		ras responsive element binding protein 1							169.0	179.0	176.0					6																	7182158		2203	4300	6503	SO:0001587	stop_gained	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7182158C>A	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.14C>A	6.37:g.7182158C>A	ENSP00000305560:p.Ser5*					RREB1_ENST00000349384.6_Nonsense_Mutation_p.S5*|RREB1_ENST00000379933.3_Nonsense_Mutation_p.S5*|RREB1_ENST00000334984.6_Nonsense_Mutation_p.S5*	p.S5*	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN			4	551	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	5					A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Nonsense_Mutation	SNP	ENST00000349384.6	37	c.14C>A	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	C	19.45	3.830457	0.71258	.	.	ENSG00000124782	ENST00000379933;ENST00000491191;ENST00000379938;ENST00000471433;ENST00000349384;ENST00000334984;ENST00000483150	.	.	.	6.03	5.16	0.70880	.	0.622831	0.14213	N	0.333932	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.309	10.7325	0.46104	0.0:0.8551:0.0:0.1449	.	.	.	.	X	5	.	ENSP00000335574:S5X	S	+	2	0	RREB1	7127157	0.054000	0.20591	0.572000	0.28498	0.334000	0.28698	0.706000	0.25690	1.563000	0.49615	-0.140000	0.14226	TCG		0.498	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			13	987	1	0	0.00010058	0.00010058	0.0072096	13	987				
DYSF	8291	broad.mit.edu	37	2	71891480	71891480	+	Nonsense_Mutation	SNP	G	G	T	rs368142107		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:71891480G>T	ENST00000258104.3	+	45	5246	c.4969G>T	c.(4969-4971)Gaa>Taa	p.E1657*	DYSF_ENST00000409651.1_Nonsense_Mutation_p.E1689*|DYSF_ENST00000429174.2_Nonsense_Mutation_p.E1678*|DYSF_ENST00000410041.1_Nonsense_Mutation_p.E1675*|DYSF_ENST00000413539.2_Nonsense_Mutation_p.E1688*|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409744.1_Nonsense_Mutation_p.E1665*|DYSF_ENST00000409582.3_Nonsense_Mutation_p.E1695*|DYSF_ENST00000394120.2_Nonsense_Mutation_p.E1658*|DYSF_ENST00000409366.1_Nonsense_Mutation_p.E1679*|DYSF_ENST00000410020.3_Nonsense_Mutation_p.E1696*|DYSF_ENST00000409762.1_Nonsense_Mutation_p.E1674*	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1657	C2 6. {ECO:0000255|PROSITE- ProRule:PRU00041}.				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						CTCCAAGGACGAAAAGATCGG	0.552																																						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	GRCh37	CM070072	DYSF	M		c.(4969-4971)Gaa>Taa		dysferlin							113.0	92.0	99.0					2																	71891480		2203	4300	6503	SO:0001587	stop_gained	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71891480G>T	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.4969G>T	2.37:g.71891480G>T	ENSP00000258104:p.Glu1657*					DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000410020.3_Nonsense_Mutation_p.E1696*|DYSF_ENST00000410041.1_Nonsense_Mutation_p.E1675*|DYSF_ENST00000409744.1_Nonsense_Mutation_p.E1665*|DYSF_ENST00000409762.1_Nonsense_Mutation_p.E1674*|DYSF_ENST00000409651.1_Nonsense_Mutation_p.E1689*|DYSF_ENST00000413539.2_Nonsense_Mutation_p.E1688*|DYSF_ENST00000409366.1_Nonsense_Mutation_p.E1679*|DYSF_ENST00000394120.2_Nonsense_Mutation_p.E1658*|DYSF_ENST00000409582.3_Nonsense_Mutation_p.E1695*|DYSF_ENST00000429174.2_Nonsense_Mutation_p.E1678*	p.E1657*	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN			45	5246	+			1657			C2 5.		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Nonsense_Mutation	SNP	ENST00000258104.3	37	c.4969G>T	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	G	48	13.931724	0.99771	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	.	.	.	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-19.6304	16.0724	0.80943	0.0:0.0:1.0:0.0	.	.	.	.	X	1688;1674;1695;1678;1657;1689;1658;1665;1679;1696;1675	.	ENSP00000258104:E1657X	E	+	1	0	DYSF	71744988	1.000000	0.71417	0.932000	0.37286	0.935000	0.57460	7.864000	0.87037	2.393000	0.81446	0.561000	0.74099	GAA		0.552	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		9	440	1	0	0.00010058	0.00010058	0.0072096	9	440				
FUCA2	2519	broad.mit.edu	37	6	143823168	143823168	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr6:143823168C>A	ENST00000002165.6	-	5	1110	c.1055G>T	c.(1054-1056)cGa>cTa	p.R352L	RP1-20N2.6_ENST00000591189.1_RNA|RP1-20N2.6_ENST00000415586.1_RNA|RP1-20N2.6_ENST00000589563.1_RNA|RP1-20N2.6_ENST00000591892.1_RNA|FUCA2_ENST00000367585.1_5'UTR|FUCA2_ENST00000438118.2_3'UTR|RP1-20N2.6_ENST00000590703.1_RNA|RP1-20N2.6_ENST00000589489.1_RNA|RP1-20N2.6_ENST00000593175.1_RNA|RP1-20N2.6_ENST00000610068.1_RNA|RP1-20N2.6_ENST00000593045.1_RNA	NM_032020.4	NP_114409.2	Q9BTY2	FUCO2_HUMAN	fucosidase, alpha-L- 2, plasma	352					fucose metabolic process (GO:0006004)|glycoside catabolic process (GO:0016139)|regulation of entry of bacterium into host cell (GO:2000535)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-L-fucosidase activity (GO:0004560)|fucose binding (GO:0042806)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)		TTGCCTCAGTCGCTCCTCAAA	0.443																																						ENST00000002165.5																			0				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(1054-1056)cGa>cTa		fucosidase, alpha-L- 2, plasma							89.0	86.0	87.0					6																	143823168		2203	4300	6503	SO:0001583	missense	2519				fucose metabolic process	extracellular region	alpha-L-fucosidase activity|cation binding	g.chr6:143823168C>A	BC003060	CCDS5200.1	6q24	2012-10-02			ENSG00000001036	ENSG00000001036	3.2.1.51		4008	protein-coding gene	gene with protein product		136820				6590153	Standard	NM_032020		Approved	MGC1314, dJ20N2.5	uc003qjm.3	Q9BTY2	OTTHUMG00000015728	ENST00000002165.6:c.1055G>T	6.37:g.143823168C>A	ENSP00000002165:p.Arg352Leu					RP1-20N2.6_ENST00000589563.1_RNA|RP1-20N2.6_ENST00000591892.1_RNA|FUCA2_ENST00000367585.1_3'UTR|FUCA2_ENST00000438118.2_3'UTR	p.R352L	NM_032020.4	NP_114409.2	Q9BTY2	FUCO2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)	5	1110	-			352					E9PEB6|Q7Z6V1|Q7Z6Y2|Q8NBK4	Missense_Mutation	SNP	ENST00000002165.6	37	c.1055G>T	CCDS5200.1	.	.	.	.	.	.	.	.	.	.	C	35	5.462906	0.96257	.	.	ENSG00000001036	ENST00000002165;ENST00000451668	T;T	0.58358	0.34;0.34	5.98	5.98	0.97165	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.72211	0.3432	M	0.84511	2.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.67898	-0.5551	10	0.30854	T	0.27	-21.6749	20.4581	0.99154	0.0:1.0:0.0:0.0	.	31;352	Q7Z6V2;Q9BTY2	.;FUCO2_HUMAN	L	352;31	ENSP00000002165:R352L;ENSP00000398119:R31L	ENSP00000002165:R352L	R	-	2	0	FUCA2	143864861	1.000000	0.71417	0.910000	0.35882	0.949000	0.60115	7.445000	0.80570	2.835000	0.97688	0.650000	0.86243	CGA		0.443	FUCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042521.2	NM_032020		9	451	1	0	3.07112e-06	6.40141e-05	0.00037162	9	451				
SYNRG	11276	broad.mit.edu	37	17	35902213	35902213	+	Silent	SNP	C	C	A	rs370791933		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr17:35902213C>A	ENST00000339208.6	-	15	3203	c.3063G>T	c.(3061-3063)tcG>tcT	p.S1021S	SYNRG_ENST00000502449.2_Silent_p.S898S|SYNRG_ENST00000346661.4_Silent_p.S1021S|SYNRG_ENST00000345615.4_Silent_p.S943S|SYNRG_ENST00000585472.1_Silent_p.S942S|SYNRG_ENST00000394378.2_Silent_p.S943S|SYNRG_ENST00000591288.1_Silent_p.S815S	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	1021					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CAAAGTCATCCGAACATTCGT	0.483																																						ENST00000339208.6																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(3061-3063)tcG>tcT		synergin, gamma							85.0	90.0	89.0					17																	35902213		2203	4300	6503	SO:0001819	synonymous_variant	11276				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding	g.chr17:35902213C>A	AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"""gamma-synergin"", ""adaptor-related protein complex 1 gamma subunit-binding protein 1"""	607291	"""AP1 gamma subunit binding protein 1"""	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.3063G>T	17.37:g.35902213C>A						SYNRG_ENST00000502449.2_Silent_p.S898S|SYNRG_ENST00000394378.2_Silent_p.S943S|SYNRG_ENST00000346661.4_Silent_p.S1021S|SYNRG_ENST00000591288.1_Silent_p.S815S|SYNRG_ENST00000585472.1_Silent_p.S942S|SYNRG_ENST00000345615.4_Silent_p.S943S	p.S1021S	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN			15	3203	-			1021					A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Silent	SNP	ENST00000339208.6	37	c.3063G>T	CCDS11321.1																																																																																				0.483	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256811.2	NM_007247		10	673	1	0	2.17888e-05	2.17888e-05	0.00213033	10	673				
MUM1	84939	broad.mit.edu	37	19	1357015	1357015	+	Missense_Mutation	SNP	C	C	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:1357015C>T	ENST00000415183.3	+	2	94	c.68C>T	c.(67-69)gCc>gTc	p.A23V	MUM1_ENST00000591806.1_Missense_Mutation_p.A23V|MUM1_ENST00000311401.5_5'UTR|MUM1_ENST00000344663.3_Missense_Mutation_p.A23V			Q2TAK8	MUM1_HUMAN	melanoma associated antigen (mutated) 1	22					chromatin organization (GO:0006325)|DNA repair (GO:0006281)	nucleus (GO:0005634)	nucleosome binding (GO:0031491)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TAGGTTTTGGCCCGAACCGCG	0.368																																						ENST00000344663.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(67-69)gCc>gTc		melanoma associated antigen (mutated) 1							116.0	109.0	112.0					19																	1357015		2203	4300	6503	SO:0001583	missense	84939				chromatin organization|DNA repair	nucleus	nucleosome binding|protein binding	g.chr19:1357015C>T	AK075241	CCDS12062.1	19p13.3	2008-02-05				ENSG00000160953			29641	protein-coding gene	gene with protein product						11042152, 7644523	Standard	NM_032853		Approved	MUM-1	uc002lrz.2	Q2TAK8		ENST00000415183.3:c.68C>T	19.37:g.1357015C>T	ENSP00000394925:p.Ala23Val					MUM1_ENST00000311401.5_5'UTR|MUM1_ENST00000415183.3_Missense_Mutation_p.A23V|MUM1_ENST00000591806.1_Missense_Mutation_p.A23V	p.A23V			Q2TAK8	MUM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	169	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	22					A1L489|B5ME02|B7ZLY8|J3KQD6|Q13109|Q5XKB9|Q8N2I4|Q96A67	Missense_Mutation	SNP	ENST00000415183.3	37	c.68C>T		.	.	.	.	.	.	.	.	.	.	C	12.76	2.035798	0.35893	.	.	ENSG00000160953	ENST00000344663;ENST00000356765;ENST00000415183	T;T	0.34072	1.38;1.38	5.2	1.58	0.23477	.	0.431802	0.21489	N	0.073707	T	0.34513	0.0900	L	0.55481	1.735	0.18873	N	0.999988	B;D	0.53151	0.319;0.958	B;P	0.47827	0.096;0.558	T	0.17077	-1.0381	10	0.54805	T	0.06	.	5.3598	0.16081	0.349:0.5509:0.0:0.1	.	23;22	B7ZLY8;Q2TAK8	.;MUM1_HUMAN	V	23;49;23	ENSP00000345789:A23V;ENSP00000394925:A23V	ENSP00000345789:A23V	A	+	2	0	MUM1	1308015	0.026000	0.19158	0.128000	0.21923	0.067000	0.16453	0.698000	0.25571	0.185000	0.20105	0.655000	0.94253	GCC		0.368	MUM1-016	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000449510.1	NM_032853		6	340	0	0	0	0.000157383	0	6	340				
KIF1B	23095	broad.mit.edu	37	1	10434488	10434488	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:10434488C>A	ENST00000377086.1	+	46	5263	c.5061C>A	c.(5059-5061)ctC>ctA	p.L1687L	KIF1B_ENST00000377081.1_Silent_p.L1687L|KIF1B_ENST00000263934.6_Silent_p.L1641L			O60333	KIF1B_HUMAN	kinesin family member 1B	1687					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		ACGAATTTCTCAATCTTGTTC	0.433																																						ENST00000377086.1																			0				breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71						c.(5059-5061)ctC>ctA		kinesin family member 1B							85.0	91.0	89.0					1																	10434488		2203	4300	6503	SO:0001819	synonymous_variant	23095				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	g.chr1:10434488C>A	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.5061C>A	1.37:g.10434488C>A						KIF1B_ENST00000263934.6_Silent_p.L1641L|KIF1B_ENST00000377081.1_Silent_p.L1687L	p.L1687L			O60333	KIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)	46	5263	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	1687					A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Silent	SNP	ENST00000377086.1	37	c.5061C>A																																																																																					0.433	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			14	726	1	0	5.01169e-05	5.01169e-05	0.00428325	14	726				
SHMT2	6472	broad.mit.edu	37	12	57626290	57626290	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr12:57626290C>A	ENST00000328923.3	+	6	1101	c.649C>A	c.(649-651)Cgg>Agg	p.R217R	SHMT2_ENST00000414700.3_Silent_p.R196R|SHMT2_ENST00000393827.4_Silent_p.R121R|SHMT2_ENST00000449049.3_Silent_p.R196R|SHMT2_ENST00000557487.1_Silent_p.R207R|SHMT2_ENST00000554600.1_3'UTR|SHMT2_ENST00000553474.1_Silent_p.R196R	NM_001166356.1|NM_005412.5	NP_001159828.1|NP_005403.2	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2 (mitochondrial)	217					glycine biosynthetic process from serine (GO:0019264)|L-serine biosynthetic process (GO:0006564)|one-carbon metabolic process (GO:0006730)|positive regulation of cell proliferation (GO:0008284)|protein homotetramerization (GO:0051289)|tetrahydrofolate interconversion (GO:0035999)	extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|chromatin binding (GO:0003682)|glycine hydroxymethyltransferase activity (GO:0004372)|L-allo-threonine aldolase activity (GO:0008732)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15					Glycine(DB00145)|Tetrahydrofolic acid(DB00116)	TCGACTTTTCCGGCCACGGCT	0.592																																					Esophageal Squamous(150;1369 2416 49071 49364)	ENST00000328923.3																			0				breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15						c.(649-651)Cgg>Agg		serine hydroxymethyltransferase 2 (mitochondrial)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)						101.0	100.0	100.0					12																	57626290		2203	4300	6503	SO:0001819	synonymous_variant	6472					microtubule cytoskeleton|mitochondrial nucleoid	glycine hydroxymethyltransferase activity|methyltransferase activity	g.chr12:57626290C>A	AK223555	CCDS8934.1, CCDS53805.1, CCDS55837.1	12q12-q14	2006-03-27				ENSG00000182199	2.1.2.1		10852	protein-coding gene	gene with protein product		138450		SHMT		8999870	Standard	NM_005412		Approved		uc001snf.2	P34897		ENST00000328923.3:c.649C>A	12.37:g.57626290C>A						SHMT2_ENST00000553474.1_Silent_p.R196R|SHMT2_ENST00000554600.1_3'UTR|SHMT2_ENST00000449049.3_Silent_p.R196R|SHMT2_ENST00000414700.3_Silent_p.R196R|SHMT2_ENST00000393827.4_Silent_p.R121R|SHMT2_ENST00000557487.1_Silent_p.R207R	p.R217R	NM_001166356.1|NM_005412.5	NP_001159828.1|NP_005403.2	P34897	GLYM_HUMAN			6	1101	+			217					B7Z9F1|E7EQ19|E7EU43|O00740|Q8N1A5	Silent	SNP	ENST00000328923.3	37	c.649C>A	CCDS8934.1	.	.	.	.	.	.	.	.	.	.	C	9.567	1.119947	0.20877	.	.	ENSG00000182199	ENST00000557529	.	.	.	5.09	3.19	0.36642	.	.	.	.	.	T	0.67515	0.2901	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65340	-0.6192	4	.	.	.	-1.3088	13.288	0.60253	0.2884:0.7116:0.0:0.0	.	.	.	.	Q	16	.	.	P	+	2	0	SHMT2	55912557	1.000000	0.71417	0.993000	0.49108	0.866000	0.49608	1.494000	0.35616	0.796000	0.33947	0.563000	0.77884	CCG		0.592	SHMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412525.2	NM_005412		10	813	1	0	0.000151284	0.000151284	0.00973904	10	813				
CBWD6	644019	broad.mit.edu	37	9	69247573	69247573	+	Missense_Mutation	SNP	C	C	T	rs200427376		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr9:69247573C>T	ENST00000377457.5	-	5	544	c.439G>A	c.(439-441)Gct>Act	p.A147T	CBWD6_ENST00000382399.4_Intron|CBWD6_ENST00000377449.1_Missense_Mutation_p.A111T	NM_001085457.1	NP_001078926.1	Q4V339	CBWD6_HUMAN	COBW domain containing 6	147							ATP binding (GO:0005524)			lung(4)	4						AACATAGAAGCCACTGCACGT	0.269																																						ENST00000377457.5																			0				lung(4)	4						c.(439-441)Gct>Act		COBW domain containing 6							21.0	14.0	16.0					9																	69247573		1993	3596	5589	SO:0001583	missense	644019						ATP binding	g.chr9:69247573C>T		CCDS43827.1	9q13	2006-06-30			ENSG00000204790	ENSG00000204790			31978	protein-coding gene	gene with protein product							Standard	NM_001085457		Approved	OTTHUMG00000066820	uc004afj.4	Q4V339	OTTHUMG00000066820	ENST00000377457.5:c.439G>A	9.37:g.69247573C>T	ENSP00000366677:p.Ala147Thr					CBWD6_ENST00000382399.4_Intron|CBWD6_ENST00000377449.1_Missense_Mutation_p.A111T	p.A147T	NM_001085457.1	NP_001078926.1	Q4V339	CBWD6_HUMAN			5	544	-			147						Missense_Mutation	SNP	ENST00000377457.5	37	c.439G>A	CCDS43827.1	.	.	.	.	.	.	.	.	.	.	.	14.66	2.601292	0.46423	.	.	ENSG00000204790	ENST00000377457;ENST00000377450;ENST00000377449;ENST00000377445;ENST00000536466	T;T	0.55588	0.51;0.51	2.63	2.63	0.31362	Cobalamin (vitamin B12) biosynthesis CobW-like (1);	0.000000	0.85682	D	0.000000	T	0.60919	0.2306	M	0.89353	3.025	0.80722	D	1	B	0.26635	0.155	B	0.34873	0.191	T	0.67814	-0.5573	10	0.62326	D	0.03	-29.0935	11.0291	0.47761	0.0:1.0:0.0:0.0	.	147	Q4V339	CBWD6_HUMAN	T	147;147;111;147;147	ENSP00000366677:A147T;ENSP00000366668:A111T	ENSP00000366664:A147T	A	-	1	0	CBWD6	68537393	1.000000	0.71417	1.000000	0.80357	0.402000	0.30811	6.849000	0.75414	1.484000	0.48361	0.184000	0.17185	GCT		0.269	CBWD6-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143172.2	XM_928822		6	138	0	0	0	3.86212e-05	0	6	138				
PLCG2	5336	broad.mit.edu	37	16	81973662	81973662	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr16:81973662C>A	ENST00000359376.3	+	30	3693	c.3479C>A	c.(3478-3480)tCa>tAa	p.S1160*		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	1160					B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						GCAGTCAAATCAGGTAAGAGG	0.408																																						ENST00000359376.3																			0				NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						c.(3478-3480)tCa>tAa		phospholipase C, gamma 2 (phosphatidylinositol-specific)							100.0	94.0	96.0					16																	81973662		1869	4109	5978	SO:0001587	stop_gained	5336				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr16:81973662C>A		CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"""SH2 domain containing"""	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.3479C>A	16.37:g.81973662C>A	ENSP00000352336:p.Ser1160*						p.S1160*	NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN			30	3693	+			1160					D3DUL3|Q3ZTS2|Q59H45|Q969T5	Nonsense_Mutation	SNP	ENST00000359376.3	37	c.3479C>A	CCDS42204.1	.	.	.	.	.	.	.	.	.	.	C	43	10.461882	0.99409	.	.	ENSG00000197943	ENST00000359376	.	.	.	5.51	5.51	0.81932	.	0.065762	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	19.4315	0.94772	0.0:1.0:0.0:0.0	.	.	.	.	X	1160	.	ENSP00000352336:S1160X	S	+	2	0	PLCG2	80531163	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	7.487000	0.81328	2.600000	0.87896	0.655000	0.94253	TCA		0.408	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1			10	611	1	0	1.58986e-06	3.86212e-05	0.000199287	10	611				
IMPG2	50939	broad.mit.edu	37	3	101038452	101038452	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:101038452G>T	ENST00000193391.7	-	2	497	c.310C>A	c.(310-312)Cat>Aat	p.H104N		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	104					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	TACTTCACATGATTTGCCACA	0.378																																						ENST00000193391.7																			0				NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(310-312)Cat>Aat		interphotoreceptor matrix proteoglycan 2							144.0	141.0	142.0					3																	101038452		2203	4300	6503	SO:0001583	missense	50939				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity	g.chr3:101038452G>T	AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.310C>A	3.37:g.101038452G>T	ENSP00000193391:p.His104Asn						p.H104N	NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN			2	497	-			104					A8MWT5|Q9UKD4|Q9UKK5	Missense_Mutation	SNP	ENST00000193391.7	37	c.310C>A	CCDS2940.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.195273	0.78902	.	.	ENSG00000081148	ENST00000193391	T	0.77750	-1.12	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.88448	0.6439	M	0.79123	2.44	0.45762	D	0.998658	D	0.76494	0.999	D	0.83275	0.996	D	0.89522	0.3779	10	0.87932	D	0	-13.0185	17.6116	0.88055	0.0:0.0:1.0:0.0	.	104	Q9BZV3	IMPG2_HUMAN	N	104	ENSP00000193391:H104N	ENSP00000193391:H104N	H	-	1	0	IMPG2	102521142	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	7.023000	0.76437	2.590000	0.87494	0.563000	0.77884	CAT		0.378	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3			12	860	1	0	2.31682e-05	2.31682e-05	0.00220351	12	860				
NBPF10	100132406	broad.mit.edu	37	1	145324364	145324364	+	Missense_Mutation	SNP	C	C	G			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:145324364C>G	ENST00000342960.5	+	28	3594	c.3559C>G	c.(3559-3561)Ctg>Gtg	p.L1187V	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	774						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CAGGGAGCTGCTGGAGGTAGT	0.502																																						ENST00000342960.5																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(3559-3561)Ctg>Gtg		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145324364C>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.3559C>G	1.37:g.145324364C>G	ENSP00000345684:p.Leu1187Val					NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron	p.L1187V	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	28	3594	+	all_hematologic(923;0.032)		1187					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.3559C>G	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	5.823	0.336119	0.11013	.	.	ENSG00000163386	ENST00000342960	T	0.09163	3.01	.	.	.	.	.	.	.	.	T	0.03915	0.0110	L	0.45228	1.405	0.09310	N	1	.	.	.	.	.	.	T	0.43669	-0.9377	5	0.26408	T	0.33	.	.	.	.	.	.	.	.	V	1187	ENSP00000345684:L1187V	ENSP00000345684:L1187V	L	+	1	2	NBPF10	144035721	0.002000	0.14202	0.012000	0.15200	0.000000	0.00434	-0.650000	0.05378	0.588000	0.29660	0.000000	0.15137	CTG		0.502	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		9	90	0	0	0	6.40141e-05	0	9	90				
TRPM7	54822	broad.mit.edu	37	15	50929637	50929637	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr15:50929637G>T	ENST00000313478.7	-	7	1095	c.814C>A	c.(814-816)Cag>Aag	p.Q272K	TRPM7_ENST00000560955.1_Missense_Mutation_p.Q272K	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	272					actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		ATTCTTTGCTGATTAATAGTT	0.358																																						ENST00000313478.7																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52						c.(814-816)Cag>Aag		transient receptor potential cation channel, subfamily M, member 7							88.0	84.0	85.0					15																	50929637		1853	4089	5942	SO:0001583	missense	54822				cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity	g.chr15:50929637G>T	AF346629	CCDS42035.1, CCDS73725.1	15q21	2011-12-14				ENSG00000092439		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17994	protein-coding gene	gene with protein product		605692				11161216, 11385574, 16382100	Standard	XM_005254486		Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	Q96QT4		ENST00000313478.7:c.814C>A	15.37:g.50929637G>T	ENSP00000320239:p.Gln272Lys					TRPM7_ENST00000560955.1_Missense_Mutation_p.Q272K	p.Q272K	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN		all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)	7	1095	-			272					Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Missense_Mutation	SNP	ENST00000313478.7	37	c.814C>A	CCDS42035.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.696509	0.48202	.	.	ENSG00000092439	ENST00000313478	T	0.61158	0.13	5.36	5.36	0.76844	.	0.199755	0.43416	D	0.000577	T	0.36663	0.0975	N	0.16656	0.425	0.28451	N	0.916321	B	0.22080	0.064	B	0.16289	0.015	T	0.14755	-1.0461	10	0.12103	T	0.63	-1.1516	10.7969	0.46466	0.1448:0.0:0.8552:0.0	.	272	Q96QT4	TRPM7_HUMAN	K	272	ENSP00000320239:Q272K	ENSP00000320239:Q272K	Q	-	1	0	TRPM7	48716929	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.528000	0.60580	2.805000	0.96524	0.650000	0.86243	CAG		0.358	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418604.1	NM_017672		9	497	1	0	6.31663e-08	2.31682e-05	8.87341e-06	9	497				
ZNF493	284443	broad.mit.edu	37	19	21606712	21606712	+	Silent	SNP	T	T	C			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:21606712T>C	ENST00000355504.4	+	2	1133	c.867T>C	c.(865-867)tcT>tcC	p.S289S	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000392288.2_Silent_p.S417S	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	289					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)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						ATAAGGAGTCTTCACACCTTA	0.348																																						ENST00000392288.2																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						c.(1249-1251)tcT>tcC		zinc finger protein 493							34.0	37.0	36.0					19																	21606712		2198	4293	6491	SO:0001819	synonymous_variant	284443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21606712T>C	AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"""Zinc fingers, C2H2-type"", ""-"""	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.867T>C	19.37:g.21606712T>C						CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Silent_p.S289S	p.S417S	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN			4	1360	+			289					G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Silent	SNP	ENST00000355504.4	37	c.1251T>C	CCDS12412.1																																																																																				0.348	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910		12	480	0	0	0	1.49906e-05	0	12	480				
TRIM25	7706	broad.mit.edu	37	17	54972919	54972919	+	Silent	SNP	C	C	A	rs145816750	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr17:54972919C>A	ENST00000316881.4	-	7	1276	c.1227G>T	c.(1225-1227)ccG>ccT	p.P409P	TRIM25_ENST00000537230.1_Silent_p.P409P	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN	tripartite motif containing 25	409	Interaction with influenza A virus NS1.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral entry into host cell (GO:0046596)|regulation of viral release from host cell (GO:1902186)|response to estrogen (GO:0043627)|response to vitamin D (GO:0033280)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(9;6.15e-08)					CTAACTGTTCCGGGGCTCCAA	0.517																																						ENST00000316881.4																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1225-1227)ccG>ccT		tripartite motif containing 25							129.0	131.0	130.0					17																	54972919		2203	4300	6503	SO:0001819	synonymous_variant	7706				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:54972919C>A	D21205	CCDS11591.1	17q23.1	2013-01-09	2011-01-25	2004-03-30				"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	12932	protein-coding gene	gene with protein product		600453	"""zinc finger protein 147 (estrogen-responsive finger protein)"", ""tripartite motif-containing 25"""	ZNF147		7789997	Standard	NM_005082		Approved	EFP, RNF147	uc002iut.3	Q14258		ENST00000316881.4:c.1227G>T	17.37:g.54972919C>A						TRIM25_ENST00000537230.1_Silent_p.P409P	p.P409P	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN			7	1276	-	Breast(9;6.15e-08)		409			Interaction with influenza A virus NS1.			Silent	SNP	ENST00000316881.4	37	c.1227G>T	CCDS11591.1																																																																																				0.517	TRIM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440609.1	NM_005082		11	697	1	0	6.40141e-05	6.40141e-05	0.00496729	11	697				
DISP1	84976	broad.mit.edu	37	1	223176649	223176649	+	Missense_Mutation	SNP	C	C	T	rs148231227		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:223176649C>T	ENST00000284476.6	+	8	2074	c.1910C>T	c.(1909-1911)gCg>gTg	p.A637V		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	637	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)	p.A637V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		GGGGTTTATGCGGGGACAGCT	0.448													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21104	0.0		0.0	False		,,,				2504	0.0					ENST00000284476.6																			1	Substitution - Missense(1)	p.A637V(1)	prostate(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69						c.(1909-1911)gCg>gTg		dispatched homolog 1 (Drosophila)							117.0	107.0	111.0					1																	223176649		2203	4300	6503	SO:0001583	missense	84976				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	g.chr1:223176649C>T	AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.1910C>T	1.37:g.223176649C>T	ENSP00000284476:p.Ala637Val						p.A637V	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN		GBM - Glioblastoma multiforme(131;0.102)	8	2074	+			637			SSD.		Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	ENST00000284476.6	37	c.1910C>T	CCDS1536.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	15.67	2.902435	0.52227	.	.	ENSG00000154309	ENST00000284476	D	0.90900	-2.75	5.91	5.91	0.95273	Sterol-sensing domain (1);	0.000000	0.85682	D	0.000000	D	0.95284	0.8470	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.94353	0.7581	10	0.49607	T	0.09	-33.4464	20.2983	0.98569	0.0:1.0:0.0:0.0	.	637	Q96F81	DISP1_HUMAN	V	637	ENSP00000284476:A637V	ENSP00000284476:A637V	A	+	2	0	DISP1	221243272	1.000000	0.71417	0.564000	0.28396	0.121000	0.20230	7.818000	0.86416	2.802000	0.96397	0.655000	0.94253	GCG		0.448	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890		8	1028	0	0	0	1.12685e-05	0	8	1028				
GGTLC1	92086	broad.mit.edu	37	20	23967157	23967157	+	Missense_Mutation	SNP	A	A	G			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr20:23967157A>G	ENST00000335694.4	-	2	296	c.92T>C	c.(91-93)aTg>aCg	p.M31T	GGTLC1_ENST00000286890.4_Missense_Mutation_p.M31T|GGTLC1_ENST00000278765.4_Missense_Mutation_p.M31T	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	31					glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)	gamma-glutamyltransferase activity (GO:0003840)	p.M31T(6)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						GTCATCCGGCATGTAGAACTC	0.622																																						ENST00000335694.4																			6	Substitution - Missense(6)	p.M31T(6)	lung(4)|NS(2)	NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(91-93)aTg>aCg		gamma-glutamyltransferase light chain 1							67.0	61.0	63.0					20																	23967157		2203	4300	6503	SO:0001583	missense	92086						gamma-glutamyltransferase activity	g.chr20:23967157A>G	AL133466	CCDS13163.1	20p11.21	2010-07-14	2008-03-10	2008-03-10	ENSG00000149435	ENSG00000149435		"""Gamma-glutamyltransferases"""	16437	protein-coding gene	gene with protein product		612338	"""gamma-glutamyltransferase-like activity 4"", ""gamma-glutamyltransferase-like activity 3"""	GGTLA4, GGTLA3		10843999, 18357469	Standard	NM_178311		Approved	dJ831C21.2, dJ831C21.1	uc002wtu.3	Q9BX51	OTTHUMG00000032095	ENST00000335694.4:c.92T>C	20.37:g.23967157A>G	ENSP00000337587:p.Met31Thr					GGTLC1_ENST00000286890.4_Missense_Mutation_p.M31T|GGTLC1_ENST00000278765.4_Missense_Mutation_p.M31T	p.M31T	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN			2	296	-			31					D3DW43|Q08246	Missense_Mutation	SNP	ENST00000335694.4	37	c.92T>C	CCDS13163.1	.	.	.	.	.	.	.	.	.	.	a	0	-2.745202	0.00087	.	.	ENSG00000149435	ENST00000286890;ENST00000278765;ENST00000335694	T;T;T	0.05786	3.39;3.39;3.39	0.844	-1.69	0.08186	.	0.459428	0.22918	N	0.054055	T	0.01092	0.0036	N	0.00332	-1.63	0.20403	N	0.999909	B	0.02656	0.0	B	0.01281	0.0	T	0.28996	-1.0026	10	0.02654	T	1	-29.1837	4.9338	0.13930	0.5039:0.0:0.4961:0.0	.	31	Q9BX51	GGTL1_HUMAN	T	31	ENSP00000286890:M31T;ENSP00000278765:M31T;ENSP00000337587:M31T	ENSP00000278765:M31T	M	-	2	0	GGTLC1	23915157	0.993000	0.37304	0.024000	0.17045	0.024000	0.10985	1.453000	0.35167	-1.885000	0.01118	-1.888000	0.00539	ATG		0.622	GGTLC1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078366.2	NM_178311.2		11	322	0	0	0	6.40141e-05	0	11	322				
SUCLA2	8803	broad.mit.edu	37	13	48570988	48570988	+	Silent	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr13:48570988G>T	ENST00000378654.3	-	2	317	c.261C>A	c.(259-261)gcC>gcA	p.A87A	SUCLA2_ENST00000543413.1_Silent_p.A29A|SUCLA2_ENST00000534875.1_Silent_p.A29A|SUCLA2_ENST00000544100.1_5'UTR|SUCLA2_ENST00000497202.1_5'UTR	NM_003850.2	NP_003841.1	Q9P2R7	SUCB1_HUMAN	succinate-CoA ligase, ADP-forming, beta subunit	87	ATP-grasp.				cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|succinyl-CoA metabolic process (GO:0006104)|succinyl-CoA pathway (GO:0006781)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(4)	15		all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;2.1e-06)	Succinic acid(DB00139)	CTAATTTTTTGGCAATTGCAT	0.368																																						ENST00000378654.3																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(4)	15						c.(259-261)gcC>gcA		succinate-CoA ligase, ADP-forming, beta subunit	Succinic acid(DB00139)						126.0	121.0	123.0					13																	48570988		2203	4300	6503	SO:0001819	synonymous_variant	8803				succinyl-CoA pathway|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity	g.chr13:48570988G>T	AF058953	CCDS9406.1	13q12.2-q13.3	2010-04-16			ENSG00000136143	ENSG00000136143	6.2.1.5		11448	protein-coding gene	gene with protein product		603921				9765291	Standard	NM_003850		Approved		uc001vbs.3	Q9P2R7	OTTHUMG00000016889	ENST00000378654.3:c.261C>A	13.37:g.48570988G>T						SUCLA2_ENST00000497202.1_5'UTR|SUCLA2_ENST00000544100.1_5'UTR|SUCLA2_ENST00000534875.1_Silent_p.A29A|SUCLA2_ENST00000543413.1_Silent_p.A29A	p.A87A	NM_003850.2	NP_003841.1	Q9P2R7	SUCB1_HUMAN		GBM - Glioblastoma multiforme(144;2.1e-06)	2	317	-		all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)	87			ATP-grasp.		B2RDE7|O95194|Q5T9Q4|Q5T9Q6|Q9NV21|Q9NVP7	Silent	SNP	ENST00000378654.3	37	c.261C>A	CCDS9406.1																																																																																				0.368	SUCLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044852.1			9	597	1	0	6.40141e-05	6.40141e-05	0.00496729	9	597				
PRKCH	5583	broad.mit.edu	37	14	62014550	62014550	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr14:62014550C>A	ENST00000332981.5	+	13	2236	c.1851C>A	c.(1849-1851)atC>atA	p.I617I	PRKCH_ENST00000556245.1_3'UTR|RP11-47I22.1_ENST00000556543.1_RNA|PRKCH_ENST00000555082.1_Silent_p.I456I|RP11-47I22.4_ENST00000556347.1_Nonsense_Mutation_p.S122*	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	617	AGC-kinase C-terminal.				blood coagulation (GO:0007596)|negative regulation of glial cell apoptotic process (GO:0034351)|platelet activation (GO:0030168)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein kinase C signaling (GO:0070528)|protein phosphorylation (GO:0006468)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		TTAAGGAAATCGACTGGGCCC	0.522																																					Melanoma(135;863 1779 8064 14443 26348)	ENST00000556347.1																			0											c.(364-366)tCg>tAg									186.0	185.0	185.0					14																	62014550		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr14:62014550C>A	M55284	CCDS9752.1	14q23.1	2009-07-10			ENSG00000027075	ENSG00000027075	2.7.11.1		9403	protein-coding gene	gene with protein product		605437		PRKCL		1986216, 1545821	Standard	NM_006255		Approved	PKC-L, PKCL	uc001xfn.3	P24723	OTTHUMG00000152341	ENST00000332981.5:c.1851C>A	14.37:g.62014550C>A						PRKCH_ENST00000332981.5_Silent_p.I617I|PRKCH_ENST00000555082.1_Silent_p.I456I|PRKCH_ENST00000556245.1_3'UTR	p.S122*							3	365	+								B4DJN5|Q16246|Q8NE03	Nonsense_Mutation	SNP	ENST00000332981.5	37	c.365C>A	CCDS9752.1	.	.	.	.	.	.	.	.	.	.	C	11.39	1.625782	0.28889	.	.	ENSG00000258989	ENST00000556347	.	.	.	5.99	-3.06	0.05379	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.7596	0.05302	0.0995:0.3258:0.1509:0.4239	.	.	.	.	X	122	.	.	S	+	2	0	RP11-47I22.4	61084303	0.006000	0.16342	0.993000	0.49108	0.997000	0.91878	-1.142000	0.03203	-0.205000	0.10219	0.655000	0.94253	TCG		0.522	PRKCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276974.2	NM_006255		17	1211	1	0	0.00010058	0.00010058	0.0072096	17	1211				
PPFIA2	8499	broad.mit.edu	37	12	81732982	81732982	+	Missense_Mutation	SNP	T	T	C			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr12:81732982T>C	ENST00000549396.1	-	21	2685	c.2525A>G	c.(2524-2526)gAa>gGa	p.E842G	PPFIA2_ENST00000552948.1_Missense_Mutation_p.E842G|PPFIA2_ENST00000443686.3_Missense_Mutation_p.E743G|PPFIA2_ENST00000550359.2_Missense_Mutation_p.E689G|PPFIA2_ENST00000407050.4_Missense_Mutation_p.E768G|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000549325.1_Missense_Mutation_p.E824G|PPFIA2_ENST00000541017.1_Missense_Mutation_p.E59G|PPFIA2_ENST00000550584.2_Missense_Mutation_p.E842G|PPFIA2_ENST00000541570.2_Missense_Mutation_p.E409G|PPFIA2_ENST00000333447.7_Missense_Mutation_p.E824G|PPFIA2_ENST00000548586.1_Missense_Mutation_p.E842G	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	842					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TCGAGCTTTTTCTTTTTTACC	0.433																																						ENST00000550584.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						c.(2524-2526)gAa>gGa		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2							199.0	195.0	196.0					12																	81732982		1853	4104	5957	SO:0001583	missense	8499							g.chr12:81732982T>C	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.2525A>G	12.37:g.81732982T>C	ENSP00000450337:p.Glu842Gly					PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000333447.7_Missense_Mutation_p.E824G|PPFIA2_ENST00000549396.1_Missense_Mutation_p.E842G|PPFIA2_ENST00000550359.2_Missense_Mutation_p.E689G|PPFIA2_ENST00000443686.3_Missense_Mutation_p.E743G|PPFIA2_ENST00000549325.1_Missense_Mutation_p.E824G|PPFIA2_ENST00000548586.1_Missense_Mutation_p.E842G|PPFIA2_ENST00000407050.4_Missense_Mutation_p.E768G|PPFIA2_ENST00000541017.1_Missense_Mutation_p.E59G|PPFIA2_ENST00000552948.1_Missense_Mutation_p.E842G|PPFIA2_ENST00000541570.2_Missense_Mutation_p.E409G	p.E842G	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN			20	2820	-			768					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	ENST00000549396.1	37	c.2525A>G	CCDS55857.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.680892	0.88542	.	.	ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541570;ENST00000541017;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948	T;T;T;T;T;T;T;T;T	0.26957	1.7;1.7;1.7;1.7;1.7;1.7;1.7;1.7;1.7	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.49677	0.1571	M	0.84948	2.725	0.80722	D	1	D	0.63880	0.993	P	0.55923	0.787	T	0.55198	-0.8178	10	0.45353	T	0.12	-17.374	15.8745	0.79151	0.0:0.0:0.0:1.0	.	842	O75334	LIPA2_HUMAN	G	842;824;409;59;768;853;824;842;743;842	ENSP00000450337:E842G;ENSP00000450298:E824G;ENSP00000438337:E409G;ENSP00000445532:E59G;ENSP00000385093:E768G;ENSP00000327416:E824G;ENSP00000449338:E842G;ENSP00000388373:E743G;ENSP00000447868:E842G	ENSP00000327416:E824G	E	-	2	0	PPFIA2	80257113	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	7.937000	0.87672	2.151000	0.67156	0.459000	0.35465	GAA		0.433	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			6	706	0	0	0	0.000157383	0	6	706				
FH	2271	broad.mit.edu	37	1	241665755	241665755	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:241665755G>T	ENST00000366560.3	-	8	1262	c.1224C>A	c.(1222-1224)ttC>ttA	p.F408L		NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	fumarate hydratase	408					cellular metabolic process (GO:0044237)|fumarate metabolic process (GO:0006106)|homeostasis of number of cells within a tissue (GO:0048873)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|tricarboxylic acid cycle enzyme complex (GO:0045239)	fumarate hydratase activity (GO:0004333)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		TCATTGGCTTGAAAACATTCA	0.393			"""Mis, N, F"""			"""lieomyomatosis, renal"""			Hereditary Leiomyomatosis and Renal Cell Cancer																												Melanoma(148;1573 2486 7381 46575)	ENST00000366560.3			yes	Rec		hereditary leiomyomatosis and renal cell cancer	1	1q42.1	2271	"""Mis, N, F"""	fumarate hydratase			"""E, M"""		"""lieomyomatosis, renal"""			0				biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26						c.(1222-1224)ttC>ttA		fumarate hydratase							69.0	62.0	64.0					1																	241665755		2203	4300	6503	SO:0001583	missense	2271	Hereditary Leiomyomatosis and Renal Cell Cancer	Familial Cancer Database	HLRCC, Reed syndrome, Hereditary Multiple Leiomyomata of Skin and Uterus	fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity	g.chr1:241665755G>T	BC003108	CCDS1617.1	1q42.1	2014-09-17			ENSG00000091483	ENSG00000091483	4.2.1.2		3700	protein-coding gene	gene with protein product		136850					Standard	NM_000143		Approved	fumarase	uc001hyx.3	P07954	OTTHUMG00000039597	ENST00000366560.3:c.1224C>A	1.37:g.241665755G>T	ENSP00000355518:p.Phe408Leu						p.F408L	NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)	8	1262	-	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	408					B1ANK7	Missense_Mutation	SNP	ENST00000366560.3	37	c.1224C>A	CCDS1617.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.099784	0.56183	.	.	ENSG00000091483	ENST00000366560	D	0.90563	-2.69	5.61	2.71	0.32032	L-Aspartase-like (1);	0.000000	0.85682	D	0.000000	D	0.91690	0.7373	M	0.92604	3.325	0.80722	D	1	B	0.33413	0.411	B	0.35312	0.2	D	0.88900	0.3352	10	0.87932	D	0	-28.1888	8.595	0.33710	0.2566:0.0:0.7434:0.0	.	408	P07954	FUMH_HUMAN	L	408	ENSP00000355518:F408L	ENSP00000355518:F408L	F	-	3	2	FH	239732378	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.979000	0.40608	0.311000	0.23014	-0.140000	0.14226	TTC		0.393	FH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095490.1	NM_000143		8	398	1	0	6.40141e-05	6.40141e-05	0.00496729	8	398				
TMF1	7110	broad.mit.edu	37	3	69073265	69073265	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:69073265G>T	ENST00000398559.2	-	16	3295	c.3079C>A	c.(3079-3081)Caa>Aaa	p.Q1027K	CTD-2013N24.2_ENST00000597366.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000599467.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|TMF1_ENST00000543976.1_Missense_Mutation_p.Q1030K|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000601511.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|TMF1_ENST00000489370.1_5'Flank|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000595925.1_RNA			P82094	TMF1_HUMAN	TATA element modulatory factor 1	1027					acrosome assembly (GO:0001675)|cellular response to organic cyclic compound (GO:0071407)|defense response to bacterium (GO:0042742)|Leydig cell differentiation (GO:0033327)|luteinizing hormone secretion (GO:0032275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|positive regulation of cytokine production (GO:0001819)|positive regulation of testosterone secretion (GO:2000845)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|sperm motility (GO:0030317)|spermatid nucleus differentiation (GO:0007289)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription cofactor activity (GO:0003712)	p.Q1027E(1)		cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		TCATCATTTTGATTTGTTAAT	0.323																																						ENST00000543976.1																			1	Substitution - Missense(1)	p.Q1027E(1)	cervix(1)	cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(3088-3090)Caa>Aaa		TATA element modulatory factor 1							167.0	154.0	158.0					3																	69073265		1831	4077	5908	SO:0001583	missense	7110				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity	g.chr3:69073265G>T		CCDS43105.1	3p21-p12	2009-02-11			ENSG00000144747	ENSG00000144747			11870	protein-coding gene	gene with protein product		601126				1409643	Standard	NM_007114		Approved	ARA160, TMF	uc003dnn.3	P82094	OTTHUMG00000158771	ENST00000398559.2:c.3079C>A	3.37:g.69073265G>T	ENSP00000381567:p.Gln1027Lys					CTD-2013N24.2_ENST00000601511.1_RNA|CTD-2013N24.2_ENST00000599467.1_RNA|CTD-2013N24.2_ENST00000597366.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|TMF1_ENST00000398559.2_Missense_Mutation_p.Q1027K|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA	p.Q1030K	NM_007114.2	NP_009045.2	P82094	TMF1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)	16	3334	-		Lung NSC(201;0.0193)|Prostate(884;0.174)	1027					B7ZLJ2|Q17R87|Q59GK0	Missense_Mutation	SNP	ENST00000398559.2	37	c.3088C>A	CCDS43105.1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.033173	0.35893	.	.	ENSG00000144747	ENST00000398559;ENST00000543976;ENST00000356248	D;D	0.83335	-1.71;-1.71	5.59	5.59	0.84812	.	0.211058	0.42964	D	0.000637	T	0.75561	0.3866	L	0.41492	1.28	0.44834	D	0.997846	P;P	0.42871	0.792;0.454	B;B	0.34931	0.173;0.192	T	0.73805	-0.3867	10	0.16896	T	0.51	-16.7561	19.6022	0.95568	0.0:0.0:1.0:0.0	.	1030;1027	P82094-2;P82094	.;TMF1_HUMAN	K	1027;1030;943	ENSP00000381567:Q1027K;ENSP00000438706:Q1030K	ENSP00000348582:Q943K	Q	-	1	0	TMF1	69155955	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.293000	0.78740	2.620000	0.88729	0.557000	0.71058	CAA		0.323	TMF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352106.1	NM_007114		17	748	1	0	8.00594e-06	9.7654e-05	0.000889496	17	748				
ZNF418	147686	broad.mit.edu	37	19	58438709	58438709	+	Silent	SNP	G	G	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:58438709G>A	ENST00000396147.1	-	4	1131	c.840C>T	c.(838-840)caC>caT	p.H280H	ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000599086.1_5'Flank|ZNF418_ENST00000425570.3_Silent_p.H301H|ZNF418_ENST00000595830.1_Silent_p.H280H|ZNF418_ENST00000599852.1_Silent_p.H195H	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	280					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		TTTTCCCAGTGTGAACTCGCT	0.433																																						ENST00000396147.1																			0				cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31						c.(838-840)caC>caT		zinc finger protein 418							95.0	98.0	97.0					19																	58438709		2189	4297	6486	SO:0001819	synonymous_variant	147686				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58438709G>A	AB075836, AY695825	CCDS42642.1	19q13.43	2013-01-08				ENSG00000196724		"""Zinc fingers, C2H2-type"", ""-"""	20647	protein-coding gene	gene with protein product						11853319	Standard	NM_133460		Approved	KIAA1956, FLJ31551	uc002qqs.1	Q8TF45		ENST00000396147.1:c.840C>T	19.37:g.58438709G>A						ZNF418_ENST00000595830.1_Silent_p.H280H|ZNF418_ENST00000599852.1_Silent_p.H195H|ZNF418_ENST00000425570.3_Silent_p.H301H|ZNF418_ENST00000600989.1_Intron	p.H280H	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)	4	1131	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	280					Q2M1S2|Q670L5|Q96N18	Silent	SNP	ENST00000396147.1	37	c.840C>T	CCDS42642.1																																																																																				0.433	ZNF418-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466693.1	NM_133460		10	794	0	0	0	6.40141e-05	0	10	794				
CKAP5	9793	broad.mit.edu	37	11	46831366	46831366	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr11:46831366C>A	ENST00000529230.1	-	6	735	c.689G>T	c.(688-690)cGa>cTa	p.R230L	CKAP5_ENST00000354558.3_Missense_Mutation_p.R230L|CKAP5_ENST00000415402.1_Missense_Mutation_p.R230L|CKAP5_ENST00000312055.5_Missense_Mutation_p.R230L			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	230					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						ACGAAGAAATCGAGTAGGTCT	0.393																																					Ovarian(4;85 273 2202 4844 13323)	ENST00000529230.1																			0				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(688-690)cGa>cTa		cytoskeleton associated protein 5							173.0	163.0	166.0					11																	46831366		2201	4299	6500	SO:0001583	missense	9793				cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding	g.chr11:46831366C>A		CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.689G>T	11.37:g.46831366C>A	ENSP00000432768:p.Arg230Leu					CKAP5_ENST00000354558.3_Missense_Mutation_p.R230L|CKAP5_ENST00000312055.5_Missense_Mutation_p.R230L|CKAP5_ENST00000415402.1_Missense_Mutation_p.R230L	p.R230L			Q14008	CKAP5_HUMAN			6	735	-			230					Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Missense_Mutation	SNP	ENST00000529230.1	37	c.689G>T	CCDS31477.1	.	.	.	.	.	.	.	.	.	.	C	32	5.149258	0.94645	.	.	ENSG00000175216	ENST00000529230;ENST00000415402;ENST00000312055;ENST00000378629;ENST00000354558	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	5.78	5.78	0.91487	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.74876	0.3774	M	0.86805	2.84	0.80722	D	1	D;B;D	0.76494	0.992;0.288;0.999	D;B;D	0.80764	0.979;0.186;0.994	T	0.78481	-0.2187	10	0.87932	D	0	-18.8626	19.9844	0.97341	0.0:1.0:0.0:0.0	.	230;230;230	Q14008-3;Q14008-2;Q14008	.;.;CKAP5_HUMAN	L	230	ENSP00000432768:R230L;ENSP00000395302:R230L;ENSP00000310227:R230L;ENSP00000346566:R230L	ENSP00000310227:R230L	R	-	2	0	CKAP5	46787942	1.000000	0.71417	0.194000	0.23346	0.820000	0.46376	7.397000	0.79903	2.724000	0.93272	0.650000	0.86243	CGA		0.393	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	NM_014756		10	845	1	0	0.00010058	0.00010058	0.0072096	10	845				
CNTNAP1	8506	broad.mit.edu	37	17	40843855	40843855	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr17:40843855C>A	ENST00000264638.4	+	16	2593	c.2376C>A	c.(2374-2376)acC>acA	p.T792T	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	792	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CCTTCCACACCGGGGCTGCAC	0.552																																						ENST00000264638.4																			0				NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(2374-2376)acC>acA		contactin associated protein 1							251.0	257.0	255.0					17																	40843855		2203	4300	6503	SO:0001819	synonymous_variant	8506				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr17:40843855C>A	U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"""neurexin 4"""	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.2376C>A	17.37:g.40843855C>A						CTD-3193K9.3_ENST00000592440.1_RNA	p.T792T	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.143)	16	2593	+		Breast(137;0.000143)	792			Fibrinogen C-terminal.			Silent	SNP	ENST00000264638.4	37	c.2376C>A	CCDS11436.1																																																																																				0.552	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	NM_003632		12	1614	1	0	0.000157383	0.000157383	0.00973904	12	1614				
TTK	7272	broad.mit.edu	37	6	80749500	80749500	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr6:80749500C>A	ENST00000369798.2	+	19	2329	c.2218C>A	c.(2218-2220)Cag>Aag	p.Q740K	TTK_ENST00000509894.1_Missense_Mutation_p.Q739K|TTK_ENST00000230510.3_Missense_Mutation_p.Q739K	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	740	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		GATAATTAATCAGATTTCTAA	0.308																																						ENST00000509894.1																			0				endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53						c.(2215-2217)Cag>Aag		TTK protein kinase							66.0	67.0	67.0					6																	80749500		2203	4280	6483	SO:0001583	missense	7272				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr6:80749500C>A		CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"""cancer/testis antigen 96"", ""monopolar spindle 1 kinase"""	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.2218C>A	6.37:g.80749500C>A	ENSP00000358813:p.Gln740Lys					TTK_ENST00000369798.2_Missense_Mutation_p.Q740K|TTK_ENST00000230510.3_Missense_Mutation_p.Q739K	p.Q739K			P33981	TTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0321)	19	3044	+		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)	740			Protein kinase.		A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Missense_Mutation	SNP	ENST00000369798.2	37	c.2215C>A	CCDS4993.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.133678	0.56828	.	.	ENSG00000112742	ENST00000509894;ENST00000230510;ENST00000369798	T;T;T	0.65916	-0.18;-0.18;-0.18	5.6	5.6	0.85130	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.102243	0.64402	D	0.000002	T	0.52964	0.1767	L	0.31578	0.945	0.80722	D	1	P;P	0.52170	0.898;0.951	P;P	0.51777	0.647;0.679	T	0.49925	-0.8887	10	0.33141	T	0.24	.	18.5974	0.91234	0.0:1.0:0.0:0.0	.	740;739	P33981;A8K8U5	TTK_HUMAN;.	K	739;739;740	ENSP00000422936:Q739K;ENSP00000230510:Q739K;ENSP00000358813:Q740K	ENSP00000230510:Q739K	Q	+	1	0	TTK	80806219	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	5.753000	0.68736	2.628000	0.89032	0.650000	0.86243	CAG		0.308	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041316.2			12	752	1	0	0.000151284	0.000151284	0.00973904	12	752				
TATDN1	83940	broad.mit.edu	37	8	125498200	125498200	+	IGR	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr8:125498200G>T	ENST00000276692.6	-	0	1018				RP11-158K1.3_ENST00000518639.1_RNA|RNF139_ENST00000303545.3_Missense_Mutation_p.D104Y	NM_032026.3	NP_114415.1	Q6P1N9	TATD1_HUMAN	TatD DNase domain containing 1						DNA catabolic process (GO:0006308)	intracellular organelle (GO:0043229)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TTTGCACATTGACTTCTATGG	0.433																																						ENST00000303545.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(1)	20						c.(310-312)Gac>Tac		ring finger protein 139							183.0	156.0	165.0					8																	125498200		2203	4300	6503	SO:0001628	intergenic_variant	11236				negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr8:125498200G>T	AF212250	CCDS6351.1, CCDS55273.1	8q24.13	2004-06-07			ENSG00000147687	ENSG00000147687			24220	protein-coding gene	gene with protein product						12477932	Standard	NM_032026		Approved	CDA11	uc003yrd.2	Q6P1N9	OTTHUMG00000165068		8.37:g.125498200G>T							p.D104Y	NM_007218.3	NP_009149.2	Q8WU17	RN139_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		2	682	+	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		104					B2R5J0|Q8TD02|Q9BY40	Missense_Mutation	SNP	ENST00000276692.6	37	c.310G>T	CCDS6351.1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.808629	0.50421	.	.	ENSG00000170881	ENST00000303545	T	0.26067	1.76	5.06	5.06	0.68205	.	0.102754	0.64402	D	0.000004	T	0.37320	0.0999	L	0.59436	1.845	0.52501	D	0.999959	D	0.61080	0.989	P	0.58077	0.832	T	0.18555	-1.0333	10	0.72032	D	0.01	-14.249	6.8961	0.24257	0.2166:0.0:0.7834:0.0	.	104	Q8WU17	RN139_HUMAN	Y	104	ENSP00000304051:D104Y	ENSP00000304051:D104Y	D	+	1	0	RNF139	125567381	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.790000	0.69038	2.501000	0.84356	0.650000	0.86243	GAC		0.433	TATDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381655.1	NM_032026		15	689	1	0	3.45872e-05	3.45872e-05	0.0032145	15	689				
FBXO7	25793	broad.mit.edu	37	22	32894260	32894260	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr22:32894260C>A	ENST00000266087.7	+	9	1639	c.1312C>A	c.(1312-1314)Cgc>Agc	p.R438S	FBXO7_ENST00000397426.1_Missense_Mutation_p.R324S|FBXO7_ENST00000382058.3_Missense_Mutation_p.R359S	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	438	Important for interaction with CDK6.|Pro-rich.				cell death (GO:0008219)|mitochondrion degradation (GO:0000422)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of lymphocyte differentiation (GO:0045620)|protein targeting to mitochondrion (GO:0006626)|protein ubiquitination (GO:0016567)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCCTAGCTCCCGCCTTCCTCC	0.527																																						ENST00000266087.7																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1312-1314)Cgc>Agc		F-box protein 7							150.0	147.0	148.0					22																	32894260		2203	4300	6503	SO:0001583	missense	25793				cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr22:32894260C>A	AF129537	CCDS13907.1, CCDS58806.1	22q12.3	2013-09-19	2004-06-15		ENSG00000100225	ENSG00000100225		"""F-boxes /  ""other"""", ""Parkinson disease"""	13586	protein-coding gene	gene with protein product		605648	"""F-box only protein 7"""			10531035, 10531037, 19038853	Standard	NM_001257990		Approved	FBX7, Fbx, PARK15	uc003amq.3	Q9Y3I1	OTTHUMG00000030674	ENST00000266087.7:c.1312C>A	22.37:g.32894260C>A	ENSP00000266087:p.Arg438Ser					FBXO7_ENST00000397426.1_Missense_Mutation_p.R324S|FBXO7_ENST00000382058.3_Missense_Mutation_p.R359S	p.R438S	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN			9	1639	+			438					B4DNB3|B4DWX5|Q5TGC4|Q5TI86|Q96HM6|Q9UF21|Q9UKT2	Missense_Mutation	SNP	ENST00000266087.7	37	c.1312C>A	CCDS13907.1	.	.	.	.	.	.	.	.	.	.	C	1.553	-0.538761	0.04053	.	.	ENSG00000100225	ENST00000266087;ENST00000382058;ENST00000397426	T;T;T	0.71817	-0.6;-0.02;-0.02	5.93	1.15	0.20763	F-box domain, Skp2-like (1);	1.008250	0.07943	N	0.979622	T	0.46073	0.1374	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.01281	0.0;0.0;0.0	T	0.29427	-1.0012	10	0.15499	T	0.54	-6.3306	6.6719	0.23074	0.3606:0.4872:0.0:0.1522	.	438;359;438	A8K7F7;Q9Y3I1-2;Q9Y3I1	.;.;FBX7_HUMAN	S	438;359;324	ENSP00000266087:R438S;ENSP00000371490:R359S;ENSP00000380571:R324S	ENSP00000266087:R438S	R	+	1	0	FBXO7	31224260	0.053000	0.20554	0.217000	0.23759	0.865000	0.49528	0.317000	0.19487	0.812000	0.34326	0.655000	0.94253	CGC		0.527	FBXO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129001.1			7	594	1	0	8.12818e-05	8.12818e-05	0.00618932	7	594				
ANXA6	309	broad.mit.edu	37	5	150488089	150488089	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr5:150488089C>A	ENST00000354546.5	-	23	1934	c.1707G>T	c.(1705-1707)atG>atT	p.M569I	ANXA6_ENST00000523714.1_Missense_Mutation_p.M537I|ANXA6_ENST00000377751.5_Missense_Mutation_p.M226I|ANXA6_ENST00000521512.1_Missense_Mutation_p.M356I|ANXA6_ENST00000356496.5_Missense_Mutation_p.M563I	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	569					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|protein homooligomerization (GO:0051260)|regulation of muscle contraction (GO:0006937)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|cholesterol binding (GO:0015485)|GTP binding (GO:0005525)|ligand-gated ion channel activity (GO:0015276)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CATAGTTGGTCATCTTGATGA	0.577																																						ENST00000354546.5																			0				endometrium(2)|kidney(1)|lung(9)	12						c.(1705-1707)atG>atT		annexin A6							182.0	181.0	181.0					5																	150488089		2008	4179	6187	SO:0001583	missense	309					melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding	g.chr5:150488089C>A	J03578	CCDS47315.1, CCDS54941.1	5q33.1	2008-02-05			ENSG00000197043	ENSG00000197043		"""Annexins"""	544	protein-coding gene	gene with protein product		114070		ANX6		3258820	Standard	NM_001155		Approved		uc003ltl.2	P08133	OTTHUMG00000164179	ENST00000354546.5:c.1707G>T	5.37:g.150488089C>A	ENSP00000346550:p.Met569Ile					ANXA6_ENST00000377751.5_Missense_Mutation_p.M226I|ANXA6_ENST00000521512.1_Missense_Mutation_p.M356I|ANXA6_ENST00000523714.1_Missense_Mutation_p.M537I|ANXA6_ENST00000356496.5_Missense_Mutation_p.M563I	p.M569I	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		23	1934	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	569					B7Z8A7|D3DQH4|E9PGK1|Q6ZT79	Missense_Mutation	SNP	ENST00000354546.5	37	c.1707G>T	CCDS47315.1	.	.	.	.	.	.	.	.	.	.	C	3.983	-0.006052	0.07773	.	.	ENSG00000197043	ENST00000354546;ENST00000523714;ENST00000377751;ENST00000356496;ENST00000521512;ENST00000540153	T;T;T;T;T	0.03242	4.0;4.0;4.0;4.0;4.0	5.57	4.69	0.59074	Annexin repeat, conserved site (1);	0.431335	0.27668	N	0.018342	T	0.02342	0.0072	N	0.16862	0.45	0.28661	N	0.906151	B;B;B	0.29571	0.08;0.249;0.006	B;B;B	0.32090	0.14;0.051;0.013	T	0.36504	-0.9745	10	0.02654	T	1	.	8.7658	0.34702	0.1487:0.7736:0.0:0.0777	.	356;563;569	E5RK69;A6NN80;P08133	.;.;ANXA6_HUMAN	I	569;537;226;563;356;443	ENSP00000346550:M569I;ENSP00000430517:M537I;ENSP00000366980:M226I;ENSP00000348889:M563I;ENSP00000430420:M356I	ENSP00000346550:M569I	M	-	3	0	ANXA6	150468282	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.922000	0.56462	1.334000	0.45468	0.655000	0.94253	ATG		0.577	ANXA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377668.2	NM_001155		12	924	1	0	0.000151284	0.000151284	0.00973904	12	924				
PMFBP1	83449	broad.mit.edu	37	16	72174339	72174339	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr16:72174339C>A	ENST00000237353.10	-	6	1040	c.779G>T	c.(778-780)cGa>cTa	p.R260L	PMFBP1_ENST00000537465.1_Missense_Mutation_p.R260L|PMFBP1_ENST00000355636.6_Missense_Mutation_p.R115L	NM_031293.2	NP_112583.2	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	260						cytoplasm (GO:0005737)				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				CAGCTTATTTCGAAGTTCTTG	0.463																																						ENST00000537465.1																			0				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45						c.(778-780)cGa>cTa		polyamine modulated factor 1 binding protein 1							320.0	309.0	313.0					16																	72174339		2198	4300	6498	SO:0001583	missense	83449							g.chr16:72174339C>A	AF239683	CCDS32483.1	16q23.1	2008-08-04			ENSG00000118557	ENSG00000118557			17728	protein-coding gene	gene with protein product						11468771	Standard	NM_031293		Approved		uc002fcd.3	Q8TBY8	OTTHUMG00000167827	ENST00000237353.10:c.779G>T	16.37:g.72174339C>A	ENSP00000237353:p.Arg260Leu					PMFBP1_ENST00000355636.6_Missense_Mutation_p.R115L|PMFBP1_ENST00000237353.10_Missense_Mutation_p.R260L	p.R260L			Q8TBY8	PMFBP_HUMAN			6	937	-		Ovarian(137;0.179)	260					B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Missense_Mutation	SNP	ENST00000237353.10	37	c.779G>T	CCDS32483.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.300024	0.81136	.	.	ENSG00000118557	ENST00000537465;ENST00000237353;ENST00000355636	T;T;T	0.17691	2.3;2.31;2.26	5.65	4.7	0.59300	.	0.000000	0.43260	D	0.000597	T	0.25975	0.0633	N	0.24115	0.695	0.39237	D	0.96379	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.08310	-1.0728	10	0.66056	D	0.02	-13.1898	10.3026	0.43661	0.0:0.9122:0.0:0.0878	.	260;260;260	Q8TBY8;Q8TBY8-2;G3V1Q7	PMFBP_HUMAN;.;.	L	260;260;115	ENSP00000443817:R260L;ENSP00000237353:R260L;ENSP00000347854:R115L	ENSP00000237353:R260L	R	-	2	0	PMFBP1	70731840	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	3.347000	0.52200	1.621000	0.50320	0.655000	0.94253	CGA		0.463	PMFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396473.2	NM_031293		13	1548	1	0	3.86212e-05	3.86212e-05	0.00332401	13	1548				
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr12:25398285C>G	ENST00000256078.4	-	2	97	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000311936.3_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R	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.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|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)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	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	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	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)	5144	Substitution - Missense(5142)|Insertion - In frame(2)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(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	GRCh37	CM076251	KRAS	M	rs121913530	c.(34-36)Ggt>Cgt		Kirsten rat sarcoma viral oncogene homolog							93.0	83.0	86.0					12																	25398285		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.chr12:25398285C>G	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.34G>C	12.37:g.25398285C>G	ENSP00000256078:p.Gly12Arg	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000256078.4_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R	p.G12R	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	225	-	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.34G>C	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930538	0.92389	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.84082	2.675	0.80722	D	1	P;P	0.43287	0.802;0.741	B;P	0.47941	0.36;0.562	D	0.86658	0.1902	10	0.66056	D	0.02	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	R	12	ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R	ENSP00000256078:G12R	G	-	1	0	KRAS	25289552	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		70	330	0	0	0	0.000147903	0	70	330				
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr22:29091840T>C	ENST00000405598.1	-	12	1308	c.1117A>G	c.(1117-1119)Aag>Gag	p.K373E	CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000544772.1_Missense_Mutation_p.K152E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382565.1_Intron			O96017	CHK2_HUMAN	checkpoint kinase 2	373	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			9	Substitution - Missense(9)	p.K373E(9)	kidney(4)|prostate(2)|endometrium(1)|stomach(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(454-456)Aag>Gag	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2																																				SO:0001583	missense	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091840T>C	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1117A>G	22.37:g.29091840T>C	ENSP00000386087:p.Lys373Glu					CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E	p.K152E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1890	-			373			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	c.454A>G	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	T	19.06	3.754336	0.69648	.	.	ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731	T;T;T;T;T;T;T;T;T	0.54071	0.9;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.9	5.89	5.89	0.94794	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.043710	0.85682	D	0.000000	T	0.56292	0.1975	N	0.11756	0.17	0.80722	D	1	D;D;D;D;D;D	0.76494	0.996;0.999;0.998;0.998;0.993;0.991	P;D;D;D;D;P	0.74674	0.905;0.984;0.943;0.969;0.923;0.896	T	0.64769	-0.6329	10	0.87932	D	0	-1.7726	15.4726	0.75453	0.0:0.0:0.0:1.0	.	282;152;373;344;373;416	O96017-4;Q9HBS5;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;.;CHK2_HUMAN;.	E	344;282;152;373;373;373;416;282;344	ENSP00000329012:K344E;ENSP00000372021:K282E;ENSP00000442458:K152E;ENSP00000329178:K373E;ENSP00000385747:K373E;ENSP00000386087:K373E;ENSP00000372023:K416E;ENSP00000384919:K282E;ENSP00000384835:K344E	ENSP00000329178:K373E	K	-	1	0	CHEK2	27421840	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	4.270000	0.58896	2.248000	0.74166	0.528000	0.53228	AAG		0.418	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		33	348	0	0	0	0.000147903	0	33	348				
MTERF3	51001	broad.mit.edu	37	8	97263135	97263135	+	Splice_Site	SNP	T	T	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr8:97263135T>A	ENST00000287025.3	-	4	774	c.676A>T	c.(676-678)Agg>Tgg	p.R226W	MTERFD1_ENST00000524341.1_Splice_Site_p.R36W|MTERFD1_ENST00000523821.1_Splice_Site_p.R226W|MTERFD1_ENST00000522822.1_Splice_Site_p.R105W	NM_015942.3	NP_057026.3	Q96E29	MTEF3_HUMAN		226					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)	transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24	Breast(36;5.16e-05)					AAGTCCTACCTGGTCTTCAGA	0.368																																						ENST00000523821.1																			0				endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24						c.e4+1		MTERF domain containing 1							81.0	84.0	83.0					8																	97263135		2203	4300	6503	SO:0001630	splice_region_variant	51001				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion	transcription regulatory region DNA binding	g.chr8:97263135T>A																												ENST00000287025.3:c.677+1A>T	8.37:g.97263135T>A						MTERFD1_ENST00000522822.1_Splice_Site_p.R105_splice|MTERFD1_ENST00000287025.3_Splice_Site_p.R226_splice|MTERFD1_ENST00000524341.1_Splice_Site_p.R36_splice	p.R226_splice			Q96E29	MTER1_HUMAN			4	795	-	Breast(36;5.16e-05)		226					B3KMG6|G3V130|Q9Y301	Splice_Site	SNP	ENST00000287025.3	37	c.677_splice	CCDS6270.1	.	.	.	.	.	.	.	.	.	.	T	18.18	3.566661	0.65651	.	.	ENSG00000156469	ENST00000523821;ENST00000522822;ENST00000524341;ENST00000287025	T;T;T;T	0.11712	2.75;2.75;2.75;2.75	5.72	5.72	0.89469	.	0.090695	0.85682	D	0.000000	T	0.38054	0.1026	M	0.87180	2.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.26883	-1.0090	10	0.40728	T	0.16	-6.2986	14.5668	0.68182	0.0:0.0:0.0:1.0	.	226;226	E5RIK9;Q96E29	.;MTER1_HUMAN	W	226;105;36;226	ENSP00000429400:R226W;ENSP00000430138:R105W;ENSP00000429267:R36W;ENSP00000287025:R226W	ENSP00000287025:R226W	R	-	1	2	MTERFD1	97332311	1.000000	0.71417	0.997000	0.53966	0.291000	0.27294	5.366000	0.66122	2.172000	0.68678	0.482000	0.46254	AGG		0.368	MTERFD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379876.1		Missense_Mutation	96	400	0	0	0	0.000147903	0	96	400				
ZNF709	163051	broad.mit.edu	37	19	12575380	12575380	+	Silent	SNP	C	C	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:12575380C>T	ENST00000397732.3	-	4	1527	c.1356G>A	c.(1354-1356)caG>caA	p.Q452Q	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Silent_p.Q452Q	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	452					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|upper_aerodigestive_tract(3)	6						CTTTACCACACTGTTTACATT	0.403																																					GBM(33;565 669 12371 29134 51667)	ENST00000397732.3																			0				large_intestine(3)|upper_aerodigestive_tract(3)	6						c.(1354-1356)caG>caA		zinc finger protein 709							102.0	108.0	106.0					19																	12575380		2203	4296	6499	SO:0001819	synonymous_variant	163051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12575380C>T	AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"""Zinc fingers, C2H2-type"", ""-"""	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.1356G>A	19.37:g.12575380C>T						ZNF709_ENST00000428311.1_Silent_p.Q452Q|CTD-3105H18.18_ENST00000598753.1_Intron	p.Q452Q	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN			4	1527	-			452					A8K4E6	Silent	SNP	ENST00000397732.3	37	c.1356G>A	CCDS42504.1																																																																																				0.403	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601		10	1022	0	0	0	0.000151284	0	10	1022				
DDHD1	80821	broad.mit.edu	37	14	53518604	53518604	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr14:53518604G>T	ENST00000323669.5	-	12	2478	c.2479C>A	c.(2479-2481)Ctt>Att	p.L827I	DDHD1_ENST00000357758.3_Intron|DDHD1_ENST00000555621.1_Intron|DDHD1_ENST00000395606.1_Intron	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	827	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					TCCGGAAAAAGAAGTTGTGGG	0.343																																						ENST00000323669.5																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25						c.(2479-2481)Ctt>Att		DDHD domain containing 1							80.0	70.0	73.0					14																	53518604		1566	3579	5145	SO:0001583	missense	0				lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding	g.chr14:53518604G>T	AB051492	CCDS9714.1, CCDS53895.1, CCDS53896.1	14q21	2012-11-23			ENSG00000100523	ENSG00000100523			19714	protein-coding gene	gene with protein product	"""phosphatidic acid-preferring phospholipase A1"""	614603	"""spastic paraplegia 28 (autosomal recessive)"""	SPG28		11214970, 20359546	Standard	NM_030637		Approved	KIAA1705, PA-PLA1	uc001xai.3	Q8NEL9	OTTHUMG00000140305	ENST00000323669.5:c.2479C>A	14.37:g.53518604G>T	ENSP00000327104:p.Leu827Ile					DDHD1_ENST00000357758.3_Intron|DDHD1_ENST00000395606.1_Intron|DDHD1_ENST00000555621.1_Intron	p.L827I	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN			12	2478	-	Breast(41;0.037)		827			DDHD.		G5E9D1|Q8WVH3|Q96LL2|Q9C0F8	Missense_Mutation	SNP	ENST00000323669.5	37	c.2479C>A	CCDS53895.1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.135008	0.56828	.	.	ENSG00000100523	ENST00000323669;ENST00000395610	.	.	.	6.07	5.19	0.71726	DDHD (2);	0.301493	0.30969	N	0.008510	T	0.36413	0.0966	N	0.08118	0	0.80722	D	1	P	0.38048	0.616	B	0.42738	0.396	T	0.28138	-1.0053	9	0.31617	T	0.26	-10.4012	11.0964	0.48147	0.084:0.0:0.916:0.0	.	827	Q8NEL9	DDHD1_HUMAN	I	827;698	.	ENSP00000327104:L827I	L	-	1	0	DDHD1	52588354	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.931000	0.48932	1.582000	0.49881	0.655000	0.94253	CTT		0.343	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276901.1			18	58	1	0	2.4624e-09	0.000132079	3.56144e-07	18	58				
MIR494	574452	broad.mit.edu	37	14	101493161	101493161	+	RNA	SNP	A	A	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr14:101493161A>T	ENST00000349529.2	+	0	0				MIR758_ENST00000390227.1_RNA|MIR1197_ENST00000408818.1_RNA|MIR380_ENST00000362112.2_RNA|MIR329-1_ENST00000385028.1_RNA|MIR329-2_ENST00000385029.1_RNA|MIR323A_ENST00000362199.1_RNA|MIR299_ENST00000385016.2_RNA	NR_030174.1				microRNA 494																		TGTTTCTTTAATGAGGACGAA	0.468																																						ENST00000385028.1																			0																				250.0	208.0	221.0					14																	101493161		1568	3582	5150			0							g.chr14:101493161A>T			14q32.31	2011-09-12		2008-12-18	ENSG00000194717	ENSG00000194717		"""ncRNAs / Micro RNAs"""	32084	non-coding RNA	RNA, micro				MIRN494			Standard	NR_030174		Approved	hsa-mir-494	uc010txm.2				14.37:g.101493161A>T								NR_029967.1						0	40	+									RNA	SNP	ENST00000349529.2	37																																																																																						0.468	MIR494-201	KNOWN	basic	miRNA	miRNA		NR_030174		11	1059	0	0	0	0.000151284	0	11	1059				
LRRC37A3	374819	broad.mit.edu	37	17	62856801	62856801	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr17:62856801G>T	ENST00000584306.1	-	11	3993	c.3463C>A	c.(3463-3465)Caa>Aaa	p.Q1155K	LRRC37A3_ENST00000319651.5_Missense_Mutation_p.Q1155K|LRRC37A3_ENST00000334962.5_Missense_Mutation_p.Q132K|LRRC37A3_ENST00000400877.3_Missense_Mutation_p.Q193K|LRRC37A3_ENST00000339474.5_Missense_Mutation_p.Q273K	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1155						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						CCTACAGTTTGAATCTTTGCC	0.453																																						ENST00000584306.1																			0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(3463-3465)Caa>Aaa		leucine rich repeat containing 37, member A3							122.0	126.0	125.0					17																	62856801		2203	4300	6503	SO:0001583	missense	374819					integral to membrane		g.chr17:62856801G>T	AB011135	CCDS32708.1	17q24.1	2008-10-22			ENSG00000176809	ENSG00000176809			32427	protein-coding gene	gene with protein product							Standard	NM_199340		Approved	FLJ34306, KIAA0563	uc031rbi.1	O60309	OTTHUMG00000132307	ENST00000584306.1:c.3463C>A	17.37:g.62856801G>T	ENSP00000464535:p.Gln1155Lys					LRRC37A3_ENST00000400877.3_Missense_Mutation_p.Q193K|LRRC37A3_ENST00000334962.5_Missense_Mutation_p.Q132K|LRRC37A3_ENST00000339474.5_Missense_Mutation_p.Q273K|LRRC37A3_ENST00000319651.5_Missense_Mutation_p.Q1155K	p.Q1155K	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN			11	3993	-			1155					Q49A01|Q49A80|Q8NB33	Missense_Mutation	SNP	ENST00000584306.1	37	c.3463C>A	CCDS32708.1	.	.	.	.	.	.	.	.	.	.	.	4.865	0.160854	0.09287	.	.	ENSG00000176809	ENST00000339474;ENST00000400877;ENST00000334962;ENST00000319651	T;T;T	0.59502	1.5;1.5;0.26	2.23	-4.47	0.03525	.	.	.	.	.	T	0.39489	0.1080	L	0.43152	1.355	0.09310	N	1	B;P	0.38504	0.062;0.634	B;B	0.30105	0.039;0.111	T	0.28713	-1.0035	9	0.66056	D	0.02	.	7.1104	0.25386	0.1462:0.6419:0.2119:0.0	.	273;1155	B4DG20;O60309	.;L37A3_HUMAN	K	236;193;132;1155	ENSP00000383674:Q193K;ENSP00000335617:Q132K;ENSP00000325713:Q1155K	ENSP00000325713:Q1155K	Q	-	1	0	LRRC37A3	60287263	0.000000	0.05858	0.000000	0.03702	0.128000	0.20619	-1.705000	0.01896	-0.797000	0.04450	-0.735000	0.03563	CAA		0.453	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445377.1	NM_199340		12	936	1	0	3.86212e-05	3.86212e-05	0.00332401	12	936				
KEL	3792	broad.mit.edu	37	7	142650939	142650939	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr7:142650939C>A	ENST00000355265.2	-	9	1503	c.1029G>T	c.(1027-1029)ttG>ttT	p.L343F	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	343					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					ACATGTTTTTCAAATATTCCA	0.557																																						ENST00000355265.2																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60						c.(1027-1029)ttG>ttT		Kell blood group, metallo-endopeptidase							222.0	222.0	222.0					7																	142650939		2203	4300	6503	SO:0001583	missense	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142650939C>A	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"""CD molecules"", ""Blood group antigens"""	6308	protein-coding gene	gene with protein product		613883	"""Kell blood group"", ""Kell blood group, metalloendopeptidase"""			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.1029G>T	7.37:g.142650939C>A	ENSP00000347409:p.Leu343Phe					KEL_ENST00000479768.2_5'UTR	p.L343F	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN			9	1503	-	Melanoma(164;0.059)		343					B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	ENST00000355265.2	37	c.1029G>T	CCDS34766.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.963308	0.53507	.	.	ENSG00000197993	ENST00000355265	T	0.76186	-1.0	5.78	2.87	0.33458	Peptidase M13 (1);	0.646012	0.13373	N	0.392767	T	0.78509	0.4294	M	0.79258	2.445	0.33148	D	0.545267	P	0.47841	0.901	P	0.53401	0.725	T	0.78868	-0.2034	10	0.31617	T	0.26	-8.148	5.8491	0.18683	0.1578:0.6713:0.0:0.1709	.	343	P23276	KELL_HUMAN	F	343	ENSP00000347409:L343F	ENSP00000347409:L343F	L	-	3	2	KEL	142361061	1.000000	0.71417	0.995000	0.50966	0.900000	0.52787	1.388000	0.34442	1.469000	0.48083	0.478000	0.44815	TTG		0.557	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		16	1216	1	0	2.31682e-05	2.31682e-05	0.00220351	16	1216				
CLK4	57396	broad.mit.edu	37	5	178039804	178039804	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr5:178039804G>T	ENST00000316308.4	-	8	1082	c.914C>A	c.(913-915)tCt>tAt	p.S305Y		NM_020666.2	NP_065717.1	Q9HAZ1	CLK4_HUMAN	CDC-like kinase 4	305	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)		TACCATTTTAGAATTATATTT	0.289																																						ENST00000316308.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21						c.(913-915)tCt>tAt		CDC-like kinase 4							52.0	60.0	57.0					5																	178039804		2193	4285	6478	SO:0001583	missense	57396					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr5:178039804G>T	AF294429	CCDS4437.1	5q35	2008-05-02			ENSG00000113240	ENSG00000113240		"""CDC-like kinases"""	13659	protein-coding gene	gene with protein product		607969				11170754	Standard	NM_020666		Approved		uc003mjf.1	Q9HAZ1	OTTHUMG00000130893	ENST00000316308.4:c.914C>A	5.37:g.178039804G>T	ENSP00000316948:p.Ser305Tyr						p.S305Y	NM_020666.2	NP_065717.1	Q9HAZ1	CLK4_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)	8	1082	-	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	305			Protein kinase.			Missense_Mutation	SNP	ENST00000316308.4	37	c.914C>A	CCDS4437.1	.	.	.	.	.	.	.	.	.	.	G	13.06	2.125826	0.37533	.	.	ENSG00000113240	ENST00000316308;ENST00000536763	T	0.69926	-0.44	5.62	5.62	0.85841	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.354081	0.33691	N	0.004656	T	0.59211	0.2177	N	0.17872	0.535	0.80722	D	1	P;P;P	0.51791	0.948;0.469;0.469	P;B;B	0.51229	0.663;0.299;0.299	T	0.56105	-0.8034	10	0.27082	T	0.32	.	12.1521	0.54055	0.0:0.0:0.829:0.171	.	305;305;305	B7ZL31;B9EG64;Q9HAZ1	.;.;CLK4_HUMAN	Y	305	ENSP00000316948:S305Y	ENSP00000316948:S305Y	S	-	2	0	CLK4	177972410	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.328000	0.59253	2.637000	0.89404	0.650000	0.86243	TCT		0.289	CLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253479.2			9	626	1	0	0.000151284	0.000151284	0.00973904	9	626				
EGF	1950	broad.mit.edu	37	4	110885582	110885582	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr4:110885582C>A	ENST00000265171.5	+	10	1909	c.1464C>A	c.(1462-1464)gcC>gcA	p.A488A	EGF_ENST00000503392.1_Silent_p.A488A|EGF_ENST00000509793.1_Silent_p.A446A	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	488					activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	TGCTGTTTGCCAATTCTCAAG	0.418																																						ENST00000265171.5																			0				breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(1462-1464)gcC>gcA		epidermal growth factor	Sulindac(DB00605)						208.0	191.0	197.0					4																	110885582		2203	4300	6503	SO:0001819	synonymous_variant	1950				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr4:110885582C>A	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"""epidermal growth factor (beta-urogastrone)"""				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.1464C>A	4.37:g.110885582C>A						EGF_ENST00000503392.1_Silent_p.A488A|EGF_ENST00000509793.1_Silent_p.A446A	p.A488A	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	10	1909	+		Hepatocellular(203;0.0893)	488					B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Silent	SNP	ENST00000265171.5	37	c.1464C>A	CCDS3689.1																																																																																				0.418	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1			10	839	1	0	5.50884e-06	0.00010058	0.000617672	10	839				
TBC1D3	729873	broad.mit.edu	37	17	36358981	36358981	+	5'Flank	SNP	C	C	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr17:36358981C>T	ENST00000537432.1	-	0	0				RP11-1407O15.2_ENST00000544906.1_Missense_Mutation_p.R82H|RP11-1407O15.2_ENST00000312412.4_Missense_Mutation_p.R237H			Q8IZP1	TBC3A_HUMAN	TBC1 domain family, member 3							plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			breast(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5	Breast(7;2.97e-12)	Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AACAGGTGTGCGGGCAAACTT	0.353																																						ENST00000312412.4																			0				kidney(1)|lung(3)	4						c.(709-711)cGc>cAc																																						SO:0001631	upstream_gene_variant	0							g.chr17:36358981C>T		CCDS45658.1	17q12	2014-09-16			ENSG00000274611	ENSG00000274419			19031	protein-coding gene	gene with protein product	"""prostate cancer gene 17"""	607741				12604796, 12359748, 16863688	Standard	NM_001123391		Approved	TBC1D3A, DKFZp434P2235, PRC17	uc002hoo.2	Q8IZP1	OTTHUMG00000188487		17.37:g.36358981C>T	Exception_encountered					RP11-1407O15.2_ENST00000544906.1_Missense_Mutation_p.R82H	p.R237H							6	709	-								A6NGX2|A8K007|Q6DCB4|Q9H0B9|Q9UDD4	Missense_Mutation	SNP	ENST00000537432.1	37	c.710G>A	CCDS45658.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.973656	0.53720	.	.	ENSG00000174093	ENST00000544906;ENST00000520237;ENST00000312412;ENST00000518004	T;T;T;T	0.02763	4.17;4.17;4.17;4.17	2.51	2.51	0.30379	.	.	.	.	.	T	0.07954	0.0199	.	.	.	.	.	.	.	.	.	.	.	.	T	0.17899	-1.0354	5	0.56958	D	0.05	.	13.0172	0.58764	0.0:1.0:0.0:0.0	.	.	.	.	H	82;237;237;233	ENSP00000444117:R82H;ENSP00000428261:R237H;ENSP00000308540:R237H;ENSP00000428330:R233H	ENSP00000308540:R237H	R	-	2	0	RP11-1407O15.2	33612772	1.000000	0.71417	0.997000	0.53966	0.709000	0.40893	5.030000	0.64128	1.394000	0.46624	0.194000	0.17425	CGC		0.353	TBC1D3-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001123391		10	1871	0	0	0	2.56e-06	0	10	1871				
TACC2	10579	broad.mit.edu	37	10	123976332	123976332	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr10:123976332C>A	ENST00000369005.1	+	11	7875	c.7535C>A	c.(7534-7536)tCa>tAa	p.S2512*	TACC2_ENST00000360561.3_Nonsense_Mutation_p.S590*|TACC2_ENST00000453444.2_Nonsense_Mutation_p.S2516*|TACC2_ENST00000368999.1_Nonsense_Mutation_p.S602*|TACC2_ENST00000369001.1_Nonsense_Mutation_p.S216*|TACC2_ENST00000334433.3_Nonsense_Mutation_p.S2512*|TACC2_ENST00000515603.1_Nonsense_Mutation_p.S2467*|TACC2_ENST00000515273.1_Nonsense_Mutation_p.S2516*|TACC2_ENST00000358010.1_Nonsense_Mutation_p.S658*|TACC2_ENST00000369000.1_Nonsense_Mutation_p.S212*|TACC2_ENST00000260733.3_Nonsense_Mutation_p.S590*|TACC2_ENST00000513429.1_Nonsense_Mutation_p.S658*|TACC2_ENST00000369004.3_Nonsense_Mutation_p.S602*	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2512					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AAATTCAGTTCACCCACTGAG	0.562																																						ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(7534-7536)tCa>tAa		transforming, acidic coiled-coil containing protein 2							133.0	112.0	119.0					10																	123976332		2203	4300	6503	SO:0001587	stop_gained	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123976332C>A	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.7535C>A	10.37:g.123976332C>A	ENSP00000358001:p.Ser2512*					TACC2_ENST00000358010.1_Nonsense_Mutation_p.S658*|TACC2_ENST00000334433.3_Nonsense_Mutation_p.S2512*|TACC2_ENST00000360561.3_Nonsense_Mutation_p.S590*|TACC2_ENST00000369004.3_Nonsense_Mutation_p.S602*|TACC2_ENST00000369001.1_Nonsense_Mutation_p.S216*|TACC2_ENST00000513429.1_Nonsense_Mutation_p.S658*|TACC2_ENST00000369000.1_Nonsense_Mutation_p.S212*|TACC2_ENST00000515273.1_Nonsense_Mutation_p.S2516*|TACC2_ENST00000515603.1_Nonsense_Mutation_p.S2467*|TACC2_ENST00000453444.2_Nonsense_Mutation_p.S2516*|TACC2_ENST00000260733.3_Nonsense_Mutation_p.S590*|TACC2_ENST00000368999.1_Nonsense_Mutation_p.S602*	p.S2512*	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			11	7875	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	2512					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Nonsense_Mutation	SNP	ENST00000369005.1	37	c.7535C>A	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	C	41	8.660008	0.98903	.	.	ENSG00000138162	ENST00000369005;ENST00000513429;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000358010;ENST00000453444;ENST00000340076;ENST00000369001;ENST00000369000;ENST00000360561;ENST00000368999;ENST00000369004;ENST00000260733;ENST00000514539;ENST00000496913;ENST00000508411	.	.	.	5.64	5.64	0.86602	.	0.000000	0.30356	N	0.009802	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.0877	19.7186	0.96134	0.0:1.0:0.0:0.0	.	.	.	.	X	2512;658;2516;2467;2512;658;2516;2502;216;212;590;602;602;590;607;247;92	.	ENSP00000260733:S590X	S	+	2	0	TACC2	123966322	1.000000	0.71417	0.273000	0.24645	0.801000	0.45260	4.972000	0.63756	2.659000	0.90383	0.655000	0.94253	TCA		0.562	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			11	429	1	0	0.00010058	0.00010058	0.0072096	11	429				
ZNF616	90317	broad.mit.edu	37	19	52618196	52618196	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:52618196C>A	ENST00000600228.1	-	4	2482	c.2221G>T	c.(2221-2223)Ggc>Tgc	p.G741C	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	741					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)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		GGTTTTTTGCCAGAATGAATT	0.403																																						ENST00000600228.1																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(2221-2223)Ggc>Tgc		zinc finger protein 616							119.0	122.0	121.0					19																	52618196		2203	4300	6503	SO:0001583	missense	90317				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52618196C>A	AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611		"""Zinc fingers, C2H2-type"", ""-"""	28062	protein-coding gene	gene with protein product							Standard	NM_178523		Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.2221G>T	19.37:g.52618196C>A	ENSP00000471000:p.Gly741Cys					ZNF616_ENST00000330123.5_3'UTR	p.G741C	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN		GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)	4	2482	-			741					B3KRV1|Q0P658|Q658V7	Missense_Mutation	SNP	ENST00000600228.1	37	c.2221G>T	CCDS33090.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.345951	0.41599	.	.	ENSG00000204611	ENST00000330123	.	.	.	2.04	2.04	0.26737	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.76644	0.4016	M	0.93241	3.395	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.63950	-0.6521	8	0.72032	D	0.01	.	9.6957	0.40156	0.0:1.0:0.0:0.0	.	741	Q08AN1	ZN616_HUMAN	C	741	.	ENSP00000328722:G741C	G	-	1	0	ZNF616	57310008	0.000000	0.05858	0.008000	0.14137	0.172000	0.22775	-0.321000	0.08018	1.116000	0.41820	0.484000	0.47621	GGC		0.403	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462451.1	XM_030892		8	706	1	0	3.07112e-06	6.40141e-05	0.00037162	8	706				
ZNF462	58499	broad.mit.edu	37	9	109688806	109688806	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr9:109688806C>A	ENST00000277225.5	+	3	2902	c.2613C>A	c.(2611-2613)ttC>ttA	p.F871L	ZNF462_ENST00000457913.1_Missense_Mutation_p.F871L|ZNF462_ENST00000441147.2_5'Flank			Q96JM2	ZN462_HUMAN	zinc finger protein 462	871					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						ACATTAAATTCAGCTTTAGGT	0.443																																						ENST00000277225.5																			0				NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(2611-2613)ttC>ttA		zinc finger protein 462							169.0	151.0	157.0					9																	109688806		2203	4300	6503	SO:0001583	missense	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109688806C>A	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.2613C>A	9.37:g.109688806C>A	ENSP00000277225:p.Phe871Leu					ZNF462_ENST00000457913.1_Missense_Mutation_p.F871L	p.F871L			Q96JM2	ZN462_HUMAN			3	2902	+			871					Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	c.2613C>A	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	C	17.66	3.443804	0.63067	.	.	ENSG00000148143	ENST00000277225;ENST00000457913	T;T	0.11385	2.78;3.18	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.14356	0.0347	N	0.08118	0	0.80722	D	1	D;D	0.63880	0.992;0.993	D;D	0.74674	0.984;0.956	T	0.33445	-0.9868	9	.	.	.	.	13.2624	0.60113	0.0:0.9279:0.0:0.072	.	871;871	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	L	871	ENSP00000277225:F871L;ENSP00000414570:F871L	.	F	+	3	2	ZNF462	108728627	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.499000	0.35671	2.731000	0.93534	0.650000	0.86243	TTC		0.443	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		19	845	1	0	1.49906e-05	1.49906e-05	0.00153956	19	845				
PTPRG	5793	broad.mit.edu	37	3	62268492	62268492	+	Missense_Mutation	SNP	G	G	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:62268492G>A	ENST00000474889.1	+	28	4380	c.4003G>A	c.(4003-4005)Gtc>Atc	p.V1335I	PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000490916.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000479018.1_RNA|PTPRG_ENST00000295874.10_Missense_Mutation_p.V1306I|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG-AS1_ENST00000466893.1_RNA	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	1335	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		ACTTATCAACGTCATCAAGGA	0.398																																						ENST00000474889.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(4003-4005)Gtc>Atc		protein tyrosine phosphatase, receptor type, G							175.0	157.0	163.0					3																	62268492		2203	4300	6503	SO:0001583	missense	5793				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr3:62268492G>A	L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.4003G>A	3.37:g.62268492G>A	ENSP00000418112:p.Val1335Ile					PTPRG-AS1_ENST00000475371.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG_ENST00000295874.10_Missense_Mutation_p.V1306I|PTPRG-AS1_ENST00000466893.1_RNA|PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000490916.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA	p.V1335I	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)	28	4380	+			1335			Tyrosine-protein phosphatase 2.		B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Missense_Mutation	SNP	ENST00000474889.1	37	c.4003G>A	CCDS2895.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.036448	0.35893	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	D;D	0.83250	-1.7;-1.7	5.38	5.38	0.77491	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.121307	0.56097	D	0.000033	T	0.56688	0.2002	N	0.00991	-1.07	0.58432	D	0.999999	B;P;B	0.39940	0.029;0.696;0.382	B;B;B	0.30401	0.011;0.115;0.036	T	0.65717	-0.6100	10	0.13853	T	0.58	.	19.3366	0.94322	0.0:0.0:1.0:0.0	.	581;1306;1335	B7Z3T1;P23470-2;P23470	.;.;PTPRG_HUMAN	I	1335;1306	ENSP00000418112:V1335I;ENSP00000295874:V1306I	ENSP00000295874:V1306I	V	+	1	0	PTPRG	62243532	1.000000	0.71417	0.990000	0.47175	0.983000	0.72400	6.473000	0.73572	2.799000	0.96334	0.650000	0.86243	GTC		0.398	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1	NM_002841		92	809	0	0	0	0.000147903	0	92	809				
MGAT3	4248	broad.mit.edu	37	22	39884489	39884489	+	Silent	SNP	C	C	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr22:39884489C>T	ENST00000341184.6	+	2	1352	c.1137C>T	c.(1135-1137)atC>atT	p.I379I		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	379					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0003830)			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					TGGACGGCATCCGCCTGCGCC	0.647																																						ENST00000341184.6																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24						c.(1135-1137)atC>atT		mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase							41.0	44.0	43.0					22																	39884489		2203	4299	6502	SO:0001819	synonymous_variant	4248				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity	g.chr22:39884489C>T	D13789	CCDS13994.2	22q13.1	2013-02-25			ENSG00000128268	ENSG00000128268	2.4.1.144	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7046	protein-coding gene	gene with protein product		604621				8370666	Standard	NM_002409		Approved	GNT-III	uc010gxy.3	Q09327	OTTHUMG00000030185	ENST00000341184.6:c.1137C>T	22.37:g.39884489C>T							p.I379I	NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN			2	1352	+	Melanoma(58;0.04)		379					A6NGD0|Q14CK5|Q6IC49|Q9UH32	Silent	SNP	ENST00000341184.6	37	c.1137C>T	CCDS13994.2																																																																																				0.647	MGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075039.2	NM_002409		46	353	0	0	0	0.000147903	0	46	353				
ZNF675	171392	broad.mit.edu	37	19	23836724	23836724	+	Silent	SNP	T	T	C			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:23836724T>C	ENST00000359788.4	-	4	1179	c.1011A>G	c.(1009-1011)gaA>gaG	p.E337E	ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000600313.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	337					bone resorption (GO:0045453)|cytokine-mediated signaling pathway (GO:0019221)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of interleukin-1-mediated signaling pathway (GO:2000660)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA binding (GO:0003677)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TGTAGGGTTTTTCTCCAGTAT	0.378																																						ENST00000359788.4																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(1009-1011)gaA>gaG		zinc finger protein 675							47.0	50.0	49.0					19																	23836724		2203	4300	6503	SO:0001819	synonymous_variant	171392				bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr19:23836724T>C		CCDS32981.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	30768	protein-coding gene	gene with protein product	"""TRAF6 inhibitory zinc finger"""					11751921	Standard	NM_138330		Approved	TIZ, TBZF	uc002nri.3	Q8TD23		ENST00000359788.4:c.1011A>G	19.37:g.23836724T>C						ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000596211.1_Intron	p.E337E	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN			4	1179	-		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)	337					Q8N211	Silent	SNP	ENST00000359788.4	37	c.1011A>G	CCDS32981.1																																																																																				0.378	ZNF675-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466433.1	NM_138330		5	511	0	0	0	3.86212e-05	0	5	511				
DNM1P47	100216544	broad.mit.edu	37	15	102304869	102304869	+	RNA	SNP	T	T	C	rs202067427		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr15:102304869T>C	ENST00000561463.1	+	0	12915									DNM1 pseudogene 47																		GTCCAACCTGTACTCGCGTGG	0.572																																						ENST00000561463.1																			0																																																			0							g.chr15:102304869T>C	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102304869T>C														0	12915	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.572	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		4	82	0	0	0	2.17888e-05	0	4	82				
ZNF844	284391	broad.mit.edu	37	19	12187275	12187275	+	Missense_Mutation	SNP	G	G	C	rs376579156	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:12187275G>C	ENST00000439326.3	+	4	1515	c.1340G>C	c.(1339-1341)cGt>cCt	p.R447P	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	447					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.R447P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						GAGAGAAACCGTATGAGTGTA	0.433																																						ENST00000439326.3																			1	Substitution - Missense(1)	p.R447P(1)	lung(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						c.(1339-1341)cGt>cCt		zinc finger protein 844							60.0	54.0	56.0					19																	12187275		692	1591	2283	SO:0001583	missense	284391				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12187275G>C	AL832297	CCDS45985.1	19p13.2	2013-01-08			ENSG00000223547	ENSG00000223547		"""Zinc fingers, C2H2-type"", ""-"""	25932	protein-coding gene	gene with protein product							Standard	NM_001136501		Approved	FLJ14959	uc002mtb.2	Q08AG5	OTTHUMG00000156405	ENST00000439326.3:c.1340G>C	19.37:g.12187275G>C	ENSP00000392024:p.Arg447Pro					ZNF844_ENST00000441304.2_3'UTR	p.R447P	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN			4	1515	+			447					Q5JPI8	Missense_Mutation	SNP	ENST00000439326.3	37	c.1340G>C	CCDS45985.1	.	.	.	.	.	.	.	.	.	.	T	0.637	-0.814748	0.02776	.	.	ENSG00000223547	ENST00000439326;ENST00000541708	T	0.03717	3.83	2.88	-3.56	0.04626	.	.	.	.	.	T	0.00524	0.0017	N	0.00049	-2.415	0.51482	D	0.999921	B	0.02656	0.0	B	0.01281	0.0	T	0.45175	-0.9279	9	0.02654	T	1	.	2.6221	0.04919	0.1164:0.4107:0.122:0.3509	.	447	Q08AG5	ZN844_HUMAN	P	447	ENSP00000392024:R447P	ENSP00000392024:R447P	R	+	2	0	ZNF844	12048275	0.000000	0.05858	0.012000	0.15200	0.001000	0.01503	-7.066000	0.00045	-0.984000	0.03507	-4.296000	0.00007	CGT		0.433	ZNF844-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344086.2			7	581	0	0	0	2.17888e-05	0	7	581				
SPTY2D1	144108	broad.mit.edu	37	11	18636809	18636809	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr11:18636809C>A	ENST00000336349.5	-	3	1247	c.1012G>T	c.(1012-1014)Gag>Tag	p.E338*	SPTY2D1_ENST00000543776.1_5'Flank	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	338	Ser-rich.									breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						GCTTTGTGCTCAACAGCAGAT	0.512																																						ENST00000336349.5																			0				breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						c.(1012-1014)Gag>Tag		SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)							117.0	130.0	126.0					11																	18636809		2199	4293	6492	SO:0001587	stop_gained	144108							g.chr11:18636809C>A	BX647798	CCDS31441.1	11p15.1	2005-10-28			ENSG00000179119	ENSG00000179119			26818	protein-coding gene	gene with protein product							Standard	NM_194285		Approved	FLJ39441, DKFZp686I068	uc001moy.3	Q68D10	OTTHUMG00000167733	ENST00000336349.5:c.1012G>T	11.37:g.18636809C>A	ENSP00000337991:p.Glu338*						p.E338*	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN			3	1247	-			338			Ser-rich.		Q6AWA5|Q6MZI5|Q7Z390|Q7Z470|Q86VG8|Q8N3E7|Q8N417|Q8N8I3	Nonsense_Mutation	SNP	ENST00000336349.5	37	c.1012G>T	CCDS31441.1	.	.	.	.	.	.	.	.	.	.	C	34	5.326405	0.95708	.	.	ENSG00000179119	ENST00000336349	.	.	.	5.84	5.84	0.93424	.	0.272640	0.36815	N	0.002396	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	-18.4727	18.3021	0.90167	0.0:1.0:0.0:0.0	.	.	.	.	X	338	.	ENSP00000337991:E338X	E	-	1	0	SPTY2D1	18593385	1.000000	0.71417	1.000000	0.80357	0.665000	0.39181	2.734000	0.47368	2.762000	0.94881	0.563000	0.77884	GAG		0.512	SPTY2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395941.1	NM_194285		17	805	1	0	5.3912e-06	7.07596e-05	0.000617672	17	805				
SYCP3	50511	broad.mit.edu	37	12	102128736	102128736	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr12:102128736C>A	ENST00000392927.3	-	5	453	c.322G>T	c.(322-324)Gaa>Taa	p.E108*	SYCP3_ENST00000266743.2_Nonsense_Mutation_p.E108*|SYCP3_ENST00000392924.1_Nonsense_Mutation_p.E108*	NM_001177948.1|NM_001177949.1|NM_153694.4	NP_001171419.1|NP_001171420.1|NP_710161.1	Q8IZU3	SYCP3_HUMAN	synaptonemal complex protein 3	108	Gln-rich.				male meiosis I (GO:0007141)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						CAAACATGTTCAATTTTCTGG	0.318																																						ENST00000392927.3																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						c.(322-324)Gaa>Taa		synaptonemal complex protein 3							114.0	110.0	112.0					12																	102128736		2201	4299	6500	SO:0001587	stop_gained	50511				cell division|male meiosis I|spermatogenesis, exchange of chromosomal proteins	nucleus	DNA binding	g.chr12:102128736C>A	AF492003, AI075991	CCDS9087.1	12q23.2	2007-02-05			ENSG00000139351	ENSG00000139351			18130	protein-coding gene	gene with protein product		604759				12213195, 10854409	Standard	NM_153694		Approved		uc001tis.3	Q8IZU3	OTTHUMG00000150132	ENST00000392927.3:c.322G>T	12.37:g.102128736C>A	ENSP00000376658:p.Glu108*					SYCP3_ENST00000266743.2_Nonsense_Mutation_p.E108*|SYCP3_ENST00000392924.1_Nonsense_Mutation_p.E108*	p.E108*	NM_001177948.1|NM_001177949.1|NM_153694.4	NP_001171419.1|NP_001171420.1|NP_710161.1	Q8IZU3	SYCP3_HUMAN			5	453	-			108			Gln-rich.			Nonsense_Mutation	SNP	ENST00000392927.3	37	c.322G>T	CCDS9087.1	.	.	.	.	.	.	.	.	.	.	C	36	5.657794	0.96734	.	.	ENSG00000139351	ENST00000266743;ENST00000392927;ENST00000392924	.	.	.	5.68	5.68	0.88126	.	0.114913	0.56097	D	0.000023	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	-8.5012	19.7942	0.96472	0.0:1.0:0.0:0.0	.	.	.	.	X	108	.	ENSP00000266743:E108X	E	-	1	0	SYCP3	100652867	1.000000	0.71417	0.888000	0.34837	0.895000	0.52256	6.763000	0.74955	2.684000	0.91462	0.313000	0.20887	GAA		0.318	SYCP3-001	KNOWN	alternative_5_UTR|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316478.2	NM_153694		11	508	1	0	0.000151284	0.000151284	0.00973904	11	508				
TPTE2P2	644623	broad.mit.edu	37	13	52864028	52864028	+	RNA	SNP	C	C	T	rs200454029	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr13:52864028C>T	ENST00000451298.1	-	0	141																											TAGAATGATACTCCAAAGGAA	0.313																																						ENST00000451298.1																			0																																																			0							g.chr13:52864028C>T																													13.37:g.52864028C>T						RP11-64P12.8_ENST00000606031.1_RNA								0	141	-									RNA	SNP	ENST00000451298.1	37																																																																																						0.313	RP11-248G5.8-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000471093.1			6	229	0	0	0	6.40141e-05	0	6	229				
ZNF780A	284323	broad.mit.edu	37	19	40580666	40580666	+	Silent	SNP	T	T	C			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:40580666T>C	ENST00000595687.2	-	6	1892	c.1683A>G	c.(1681-1683)gaA>gaG	p.E561E	ZNF780A_ENST00000594395.1_Silent_p.E562E|ZNF780A_ENST00000340963.5_Silent_p.E561E|ZNF780A_ENST00000455521.1_Silent_p.E562E|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000450241.2_Silent_p.E527E|ZNF780A_ENST00000414720.2_Intron	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	561					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)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CTTTCCCACATTCCTTACATT	0.388																																						ENST00000450241.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31						c.(1579-1581)gaA>gaG		zinc finger protein 780A							130.0	132.0	131.0					19																	40580666		2203	4300	6503	SO:0001819	synonymous_variant	284323				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40580666T>C	AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"""Zinc fingers, C2H2-type"", ""-"""	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.1683A>G	19.37:g.40580666T>C						ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000340963.5_Silent_p.E561E|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000595687.2_Silent_p.E561E|ZNF780A_ENST00000455521.1_Silent_p.E562E|ZNF780A_ENST00000594395.1_Silent_p.E562E	p.E527E			O75290	Z780A_HUMAN			6	1892	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		561					E9PB48|Q6ZN87	Silent	SNP	ENST00000595687.2	37	c.1581A>G	CCDS33026.2																																																																																				0.388	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000470066.1	NM_001010880		6	944	0	0	0	1.12685e-05	0	6	944				
MLLT4	4301	broad.mit.edu	37	6	168226889	168226889	+	5'Flank	SNP	G	G	A	rs550884620		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr6:168226889G>A	ENST00000447894.2	+	0	0				MLLT4_ENST00000351017.4_5'Flank|MLLT4_ENST00000400822.3_5'Flank|MLLT4_ENST00000344191.4_5'Flank|MLLT4-AS1_ENST00000359760.5_RNA|MLLT4_ENST00000392108.3_5'Flank|MLLT4_ENST00000366806.2_5'Flank|MLLT4_ENST00000392112.1_5'Flank			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4						adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		ACCCGGACCCGCCAGTCCGGA	0.687			T	MLL	AL																																	ENST00000359760.5				Dom	yes		6	6q27	4301		"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""			L					0																				65.0	89.0	81.0					6																	168226889		1964	4108	6072	SO:0001631	upstream_gene_variant	0							g.chr6:168226889G>A	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031		6.37:g.168226889G>A	Exception_encountered							NR_027906.1						0	500	-								O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	RNA	SNP	ENST00000447894.2	37																																																																																						0.687	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		6	361	0	0	0	0.000157383	0	6	361				
FLNC	2318	broad.mit.edu	37	7	128491395	128491395	+	Silent	SNP	C	C	G			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr7:128491395C>G	ENST00000325888.8	+	34	5910	c.5649C>G	c.(5647-5649)gtC>gtG	p.V1883V	FLNC_ENST00000346177.6_Silent_p.V1850V|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1883					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TCACTATTGTCACCAAAGATG	0.587																																						ENST00000325888.8																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(5647-5649)gtC>gtG		filamin C, gamma							55.0	59.0	57.0					7																	128491395		2141	4263	6404	SO:0001819	synonymous_variant	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128491395C>G	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.5649C>G	7.37:g.128491395C>G						RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Silent_p.V1850V	p.V1883V	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			34	5910	+			1883					B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Silent	SNP	ENST00000325888.8	37	c.5649C>G	CCDS43644.1																																																																																				0.587	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			5	291	0	0	0	1.23904e-05	0	5	291				
LRP1B	53353	broad.mit.edu	37	2	141747122	141747122	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:141747122C>A	ENST00000389484.3	-	17	3720	c.2749G>T	c.(2749-2751)Gaa>Taa	p.E917*	Y_RNA_ENST00000365022.1_RNA	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	917	LDL-receptor class A 4. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGATTGGATTCATCTTCATTG	0.388										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(2749-2751)Gaa>Taa		low density lipoprotein receptor-related protein 1B							134.0	127.0	129.0					2																	141747122		2203	4300	6503	SO:0001587	stop_gained	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141747122C>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.2749G>T	2.37:g.141747122C>A	ENSP00000374135:p.Glu917*	TSP Lung(27;0.18)					p.E917*	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	17	3720	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	917			LDL-receptor class A 4.		Q8WY29|Q8WY30|Q8WY31	Nonsense_Mutation	SNP	ENST00000389484.3	37	c.2749G>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	50	16.335596	0.99861	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	20.181	0.98201	0.0:1.0:0.0:0.0	.	.	.	.	X	917;855	.	ENSP00000374135:E917X	E	-	1	0	LRP1B	141463592	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.727000	0.84838	2.840000	0.97914	0.655000	0.94253	GAA		0.388	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		14	741	1	0	0.000132079	0.000132079	0.00935769	14	741				
BTBD7	55727	broad.mit.edu	37	14	93761126	93761126	+	Silent	SNP	G	G	T	rs146080654		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr14:93761126G>T	ENST00000334746.5	-	3	547	c.240C>A	c.(238-240)gcC>gcA	p.A80A	BTBD7_ENST00000555525.1_Silent_p.A80A|BTBD7_ENST00000393170.2_5'Flank|BTBD7_ENST00000298896.3_Silent_p.A80A|BTBD7_ENST00000554565.1_Intron	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	80					multicellular organismal development (GO:0007275)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		TGGCATGATCGGCAGACCTAT	0.448																																						ENST00000334746.5																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35						c.(238-240)gcC>gcA		BTB (POZ) domain containing 7							138.0	141.0	140.0					14																	93761126		2203	4300	6503	SO:0001819	synonymous_variant	55727							g.chr14:93761126G>T	AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114		"""BTB/POZ domain containing"""	18269	protein-coding gene	gene with protein product		610386				10819331, 11527404	Standard	NM_001289133		Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.240C>A	14.37:g.93761126G>T						BTBD7_ENST00000554565.1_Intron|BTBD7_ENST00000298896.3_Silent_p.A80A|BTBD7_ENST00000555525.1_Silent_p.A80A	p.A80A	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)	3	547	-		all_cancers(154;0.08)	80					A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	Silent	SNP	ENST00000334746.5	37	c.240C>A	CCDS32146.1																																																																																				0.448	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412701.1	NM_001002860		12	999	1	0	0.000151284	0.000151284	0.00973904	12	999				
ADD3	120	broad.mit.edu	37	10	111885676	111885676	+	Silent	SNP	G	G	T	rs138443686		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr10:111885676G>T	ENST00000356080.4	+	11	1861	c.1494G>T	c.(1492-1494)ccG>ccT	p.P498P	ADD3_ENST00000277900.8_Silent_p.P498P|ADD3_ENST00000360162.3_Silent_p.P498P	NM_016824.3	NP_058432.1	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	498						cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		ACACAAACCCGAATGAGGTAC	0.358																																						ENST00000277900.8																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29						c.(1492-1494)ccG>ccT		adducin 3 (gamma)							95.0	97.0	96.0					10																	111885676		2203	4300	6503	SO:0001819	synonymous_variant	120					cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton	g.chr10:111885676G>T	U37122	CCDS7561.1, CCDS7562.1	10q25.2	2005-11-08			ENSG00000148700	ENSG00000148700			245	protein-coding gene	gene with protein product		601568		ADDL		8893809	Standard	XM_005269529		Approved		uc001kyv.3	Q9UEY8	OTTHUMG00000019032	ENST00000356080.4:c.1494G>T	10.37:g.111885676G>T						ADD3_ENST00000360162.3_Silent_p.P498P|ADD3_ENST00000356080.4_Silent_p.P498P	p.P498P	NM_001121.2	NP_001112.2	Q9UEY8	ADDG_HUMAN		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)	11	1859	+		Breast(234;0.052)|Lung NSC(174;0.223)	498					D3DRA8|O43243|Q5VU09|Q92773|Q9UEY7	Silent	SNP	ENST00000356080.4	37	c.1494G>T	CCDS7561.1																																																																																				0.358	ADD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050289.1	NM_019903		8	547	1	0	0.000157383	0.000157383	0.00973904	8	547				
SEC23B	10483	broad.mit.edu	37	20	18492924	18492924	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr20:18492924C>A	ENST00000336714.3	+	3	709	c.277C>A	c.(277-279)Cag>Aag	p.Q93K	SEC23B_ENST00000262544.2_Missense_Mutation_p.Q93K|SEC23B_ENST00000377475.3_Missense_Mutation_p.Q93K|SEC23B_ENST00000377465.1_Missense_Mutation_p.Q93K|SEC23B_ENST00000494645.1_3'UTR	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	93					ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						TCAAAGAAATCAGGTATGTGa	0.269																																						ENST00000336714.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						c.(277-279)Cag>Aag		Sec23 homolog B (S. cerevisiae)							25.0	27.0	26.0					20																	18492924		2198	4276	6474	SO:0001583	missense	10483				ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding	g.chr20:18492924C>A	X97065	CCDS13137.1	20p11.23	2010-02-09	2001-11-28		ENSG00000101310	ENSG00000101310			10702	protein-coding gene	gene with protein product		610512	"""Sec23 (S. cerevisiae) homolog B"", ""congenital dyserythropoietic anemia, type II"""	CDAN2		8898360, 10329445, 19621418	Standard	NM_032985		Approved	CDA-II, CDAII, HEMPAS	uc002wrb.2	Q15437	OTTHUMG00000031976	ENST00000336714.3:c.277C>A	20.37:g.18492924C>A	ENSP00000338844:p.Gln93Lys					SEC23B_ENST00000494645.1_3'UTR|SEC23B_ENST00000377475.3_Missense_Mutation_p.Q93K|SEC23B_ENST00000262544.2_Missense_Mutation_p.Q93K|SEC23B_ENST00000377465.1_Missense_Mutation_p.Q93K	p.Q93K	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN			3	709	+			93					D3DW33|Q503A9|Q5W183|Q9BS15|Q9BSI2|Q9H1D7	Missense_Mutation	SNP	ENST00000336714.3	37	c.277C>A	CCDS13137.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.058618	0.55325	.	.	ENSG00000101310	ENST00000450074;ENST00000336714;ENST00000262544;ENST00000377475;ENST00000377465	T;T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02;-1.02	5.33	5.33	0.75918	Zinc finger, Sec23/Sec24-type (2);	0.180852	0.49305	D	0.000141	T	0.70996	0.3288	L	0.31664	0.95	0.44424	D	0.997344	B;B	0.23990	0.095;0.023	B;B	0.29440	0.102;0.102	T	0.65857	-0.6066	10	0.36615	T	0.2	-14.7116	18.1847	0.89789	0.0:1.0:0.0:0.0	.	93;93	B4DJW8;Q15437	.;SC23B_HUMAN	K	93	ENSP00000403971:Q93K;ENSP00000338844:Q93K;ENSP00000262544:Q93K;ENSP00000366695:Q93K;ENSP00000366685:Q93K	ENSP00000262544:Q93K	Q	+	1	0	SEC23B	18440924	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.783000	0.68982	2.768000	0.95171	0.655000	0.94253	CAG		0.269	SEC23B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078184.5			9	526	1	0	2.17888e-05	2.17888e-05	0.00213033	9	526				
ARHGEF5	7984	broad.mit.edu	37	7	144060770	144060770	+	Silent	SNP	T	T	C	rs141931104		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr7:144060770T>C	ENST00000056217.5	+	2	1182	c.1008T>C	c.(1006-1008)aaT>aaC	p.N336N	ARHGEF5_ENST00000471847.2_5'Flank	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	336					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)|myeloid dendritic cell chemotaxis (GO:0002408)|positive regulation of podosome assembly (GO:0071803)|regulation of Rho GTPase activity (GO:0032319)		GTP binding (GO:0005525)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.N336N(5)		breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					CAGAAGAGAATAGGGCGGACT	0.512																																						ENST00000056217.5																			5	Substitution - coding silent(5)	p.N336N(5)	endometrium(2)|lung(1)|prostate(1)|kidney(1)	breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(1006-1008)aaT>aaC		Rho guanine nucleotide exchange factor (GEF) 5		T		4,4184		0,4,2090	143.0	127.0	132.0		1008	-7.7	0.0	7	dbSNP_134	132	12,8044		0,12,4016	no	coding-synonymous	ARHGEF5	NM_005435.3		0,16,6106	CC,CT,TT		0.149,0.0955,0.1307		336/1598	144060770	16,12228	2094	4028	6122	SO:0001819	synonymous_variant	7984				intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr7:144060770T>C	U02082	CCDS34771.1	7q35	2012-09-20			ENSG00000050327	ENSG00000050327		"""Rho guanine nucleotide exchange factors"""	13209	protein-coding gene	gene with protein product	"""transforming immortalized mammary oncogene"", ""guanine nucleotide regulatory protein TIM"""	600888				8134109, 7656213	Standard	NM_005435		Approved	TIM, TIM1, GEF5, P60	uc003wel.3	Q12774	OTTHUMG00000158004	ENST00000056217.5:c.1008T>C	7.37:g.144060770T>C							p.N336N	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN			2	1182	+	Melanoma(164;0.14)		336					A6NNJ2|Q6ZML7	Silent	SNP	ENST00000056217.5	37	c.1008T>C	CCDS34771.1																																																																																				0.512	ARHGEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349981.1	NM_005435		5	332	0	0	0	3.59834e-05	0	5	332				
SPO11	23626	broad.mit.edu	37	20	55906923	55906923	+	Missense_Mutation	SNP	C	C	A	rs200007444		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr20:55906923C>A	ENST00000371263.3	+	2	275	c.166C>A	c.(166-168)Caa>Aaa	p.Q56K	SPO11_ENST00000345868.4_Intron|SPO11_ENST00000371260.4_Intron	NM_012444.2	NP_036576.1	Q9Y5K1	SPO11_HUMAN	SPO11 meiotic protein covalently bound to DSB	56					DNA catabolic process, endonucleolytic (GO:0000737)|female gamete generation (GO:0007292)|male meiosis I (GO:0007141)|ovarian follicle development (GO:0001541)|protein localization to chromosome (GO:0034502)|reciprocal meiotic recombination (GO:0007131)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|hydrolase activity (GO:0016787)			autonomic_ganglia(1)|breast(3)|large_intestine(4)|lung(8)|skin(2)	18	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)			AAATATTATCCAAGACATAAT	0.323								Editing and processing nucleases																														ENST00000371263.3																			0				autonomic_ganglia(1)|breast(3)|large_intestine(4)|lung(8)|skin(2)	18						c.(166-168)Caa>Aaa	Editing and processing nucleases	SPO11 meiotic protein covalently bound to DSB							131.0	142.0	138.0					20																	55906923		2203	4300	6503	SO:0001583	missense	23626				female gamete generation|reciprocal meiotic recombination	chromosome|nucleus	ATP binding|DNA binding|hydrolase activity	g.chr20:55906923C>A	AF169385	CCDS13456.1, CCDS13457.1	20q13.31	2013-06-05	2013-06-05		ENSG00000054796	ENSG00000054796			11250	protein-coding gene	gene with protein product	"""cancer/testis antigen 35"", ""spermatogenesis associated 43"""	605114	"""SPO11, meiotic protein covalently bound to DSB (S. cerevisiae)-like"", ""SPO11 meiotic protein covalently bound to DSB-like (S. cerevisiae)"", ""SPO11 meiotic protein covalently bound to DSB homolog (S. cerevisiae)"""			10534401	Standard	NM_012444		Approved	CT35, SPATA43, TOPVIA	uc002xye.3	Q9Y5K1	OTTHUMG00000032817	ENST00000371263.3:c.166C>A	20.37:g.55906923C>A	ENSP00000360310:p.Gln56Lys					SPO11_ENST00000371260.4_Intron|SPO11_ENST00000345868.4_Intron	p.Q56K	NM_012444.2	NP_036576.1	Q9Y5K1	SPO11_HUMAN	BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)		2	275	+	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)		56					Q5TCI1|Q8N4V0|Q9NQM7|Q9NQM8	Missense_Mutation	SNP	ENST00000371263.3	37	c.166C>A	CCDS13456.1	.	.	.	.	.	.	.	.	.	.	C	11.32	1.602589	0.28534	.	.	ENSG00000054796	ENST00000371263;ENST00000418127	T;T	0.16196	2.36;2.36	5.42	4.46	0.54185	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.351271	0.29417	N	0.012207	T	0.15565	0.0375	L	0.54323	1.7	0.21933	N	0.99947	B	0.20887	0.049	B	0.14023	0.01	T	0.33317	-0.9873	10	0.06236	T	0.91	-7.2948	14.2671	0.66126	0.0:0.7184:0.2816:0.0	.	56	Q9Y5K1	SPO11_HUMAN	K	56;34	ENSP00000360310:Q56K;ENSP00000413185:Q34K	ENSP00000360310:Q56K	Q	+	1	0	SPO11	55340330	0.607000	0.26958	0.534000	0.28014	0.756000	0.42949	1.495000	0.35627	1.390000	0.46547	0.585000	0.79938	CAA		0.323	SPO11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079836.2	NM_012444		12	1241	1	0	0.000157383	0.000157383	0.00973904	12	1241				
CTCFL	140690	broad.mit.edu	37	20	56094287	56094287	+	Missense_Mutation	SNP	G	G	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr20:56094287G>A	ENST00000608263.1	-	3	1562	c.901C>T	c.(901-903)Cgg>Tgg	p.R301W	CTCFL_ENST00000433949.3_Missense_Mutation_p.R96W|CTCFL_ENST00000609232.1_Missense_Mutation_p.R301W|CTCFL_ENST00000502686.2_Missense_Mutation_p.R39W|CTCFL_ENST00000481655.2_Missense_Mutation_p.R301W|CTCFL_ENST00000422869.2_Missense_Mutation_p.R301W|CTCFL_ENST00000423479.3_Missense_Mutation_p.R301W|CTCFL_ENST00000608440.1_Missense_Mutation_p.R301W|CTCFL_ENST00000608903.1_Missense_Mutation_p.R39W|CTCFL_ENST00000429804.3_Missense_Mutation_p.R301W|CTCFL_ENST00000432255.2_Missense_Mutation_p.R301W|CTCFL_ENST00000608858.1_5'UTR|CTCFL_ENST00000243914.3_Missense_Mutation_p.R301W|CTCFL_ENST00000371196.2_Missense_Mutation_p.R301W|CTCFL_ENST00000608158.1_Missense_Mutation_p.R301W|CTCFL_ENST00000539382.1_Missense_Mutation_p.R96W|CTCFL_ENST00000608425.1_Missense_Mutation_p.R301W	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	301					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|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)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			ACATGGTTCCGCAGCAGAGTG	0.453																																						ENST00000426658.2																			0				NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(901-903)Cgg>Tgg		CCCTC-binding factor (zinc finger protein)-like							95.0	95.0	95.0					20																	56094287		2203	4300	6503	SO:0001583	missense	140690				cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr20:56094287G>A		CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"""Zinc fingers, C2H2-type"""	16234	protein-coding gene	gene with protein product	"""cancer/testis antigen 27"""	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.901C>T	20.37:g.56094287G>A	ENSP00000476783:p.Arg301Trp					CTCFL_ENST00000422109.2_Missense_Mutation_p.R301W|CTCFL_ENST00000429804.2_Missense_Mutation_p.R301W|CTCFL_ENST00000422869.2_Missense_Mutation_p.R301W|CTCFL_ENST00000423479.2_Missense_Mutation_p.R301W|CTCFL_ENST00000433949.2_Missense_Mutation_p.R301W|CTCFL_ENST00000539382.1_Missense_Mutation_p.R96W|CTCFL_ENST00000371196.2_Missense_Mutation_p.R301W|CTCFL_ENST00000481655.1_5'UTR|CTCFL_ENST00000502686.2_Missense_Mutation_p.R39W|CTCFL_ENST00000432255.2_Missense_Mutation_p.R301W|CTCFL_ENST00000243914.3_Missense_Mutation_p.R301W	p.R301W			Q8NI51	CTCFL_HUMAN	BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)		3	1562	-	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		301					A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Missense_Mutation	SNP	ENST00000608263.1	37	c.901C>T	CCDS13459.1	.	.	.	.	.	.	.	.	.	.	G	13.44	2.238725	0.39598	.	.	ENSG00000124092	ENST00000423479;ENST00000243914;ENST00000371196;ENST00000429804;ENST00000433949;ENST00000502686;ENST00000422109;ENST00000426658;ENST00000432255;ENST00000539382;ENST00000422869	T;T;T;T;T;T;T;T;T;T;T	0.08282	3.11;3.11;3.11;3.11;3.11;3.11;3.11;3.11;3.11;3.11;3.11	5.25	0.582	0.17412	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.40554	N	0.001079	T	0.25531	0.0621	M	0.69523	2.12	0.38434	D	0.946527	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;0.995;1.0;1.0;1.0;1.0;1.0	T	0.10847	-1.0612	10	0.72032	D	0.01	-42.7671	14.3281	0.66534	0.0:0.0:0.3805:0.6195	.	301;301;301;301;301;301;301;301	A6XGM3;A6XGM0;A6XGM9;A6XGM8;A6XGM2;E7EUE3;A6XGL8;Q8NI51	.;.;.;.;.;.;.;CTCFL_HUMAN	W	301;301;301;301;301;39;301;301;301;96;301	ENSP00000415579:R301W;ENSP00000243914:R301W;ENSP00000360239:R301W;ENSP00000415329:R301W;ENSP00000392034:R301W;ENSP00000437999:R39W;ENSP00000413713:R301W;ENSP00000403369:R301W;ENSP00000409344:R301W;ENSP00000439998:R96W;ENSP00000399061:R301W	ENSP00000243914:R301W	R	-	1	2	CTCFL	55527693	0.611000	0.26992	0.073000	0.20177	0.072000	0.16883	0.855000	0.27805	0.255000	0.21593	-0.293000	0.09583	CGG		0.453	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1	NM_080618		6	493	0	0	0	8.12818e-05	0	6	493				
C21orf59	56683	broad.mit.edu	37	21	33982250	33982250	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr21:33982250G>T	ENST00000290155.3	-	2	827	c.205C>A	c.(205-207)Cag>Aag	p.Q69K	C21orf59_ENST00000540881.1_Intron|AP000275.65_ENST00000553001.1_Missense_Mutation_p.Q69K|C21orf59_ENST00000382549.4_Missense_Mutation_p.Q69K	NM_021254.2	NP_067077.1	P57076	CU059_HUMAN	chromosome 21 open reading frame 59	69						cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|large_intestine(1)|prostate(1)|skin(1)	5						TCTTCAATCTGATCATCGGTC	0.393																																						ENST00000382549.4																			0				endometrium(2)|large_intestine(1)|prostate(1)|skin(1)	5						c.(205-207)Cag>Aag		chromosome 21 open reading frame 59							131.0	116.0	121.0					21																	33982250		2203	4300	6503	SO:0001583	missense	56683					cytosol|nucleus		g.chr21:33982250G>T	AF282851	CCDS13617.1	21q22.11	2014-02-03	2003-07-22		ENSG00000159079	ENSG00000159079			1301	protein-coding gene	gene with protein product		615494	"""chromosome 21 open reading frame 48"""	C21orf48		24094744	Standard	NM_021254		Approved	FLJ20467, FBB18, CILD26	uc002yqc.3	P57076	OTTHUMG00000179510	ENST00000290155.3:c.205C>A	21.37:g.33982250G>T	ENSP00000290155:p.Gln69Lys					C21orf59_ENST00000540881.1_Intron|C21orf59_ENST00000290155.3_Missense_Mutation_p.Q69K|C21ORF59_ENST00000607686.1_Missense_Mutation_p.Q69K	p.Q69K			P57076	CU059_HUMAN			2	547	-			69					Q53FH0	Missense_Mutation	SNP	ENST00000290155.3	37	c.205C>A	CCDS13617.1	.	.	.	.	.	.	.	.	.	.	G	20.0	3.930476	0.73327	.	.	ENSG00000159079	ENST00000553001;ENST00000440966;ENST00000382549;ENST00000290155;ENST00000543202;ENST00000458138	.	.	.	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.79476	0.4452	M	0.91872	3.25	0.80722	D	1	B;B;B;B	0.26081	0.141;0.043;0.007;0.012	B;B;B;B	0.29524	0.08;0.103;0.012;0.012	T	0.80569	-0.1324	9	0.59425	D	0.04	-21.6651	18.8173	0.92081	0.0:0.0:1.0:0.0	.	69;69;69;69	C9J818;P57076;D3DSE6;Q96NJ2	.;CU059_HUMAN;.;.	K	69;69;69;69;69;52	.	ENSP00000290155:Q69K	Q	-	1	0	C21orf59	32904121	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.536000	0.98067	2.746000	0.94184	0.655000	0.94253	CAG		0.393	C21orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139431.1	NM_021254		11	336	1	0	6.40141e-05	6.40141e-05	0.00496729	11	336				
ZNF557	79230	broad.mit.edu	37	19	7082034	7082034	+	Silent	SNP	C	C	A	rs201136508		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:7082034C>A	ENST00000439035.2	+	7	616	c.376C>A	c.(376-378)Cga>Aga	p.R126R	ZNF557_ENST00000252840.6_Silent_p.R133R|ZNF557_ENST00000414706.1_Silent_p.R133R			Q8N988	ZN557_HUMAN	zinc finger protein 557	126					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(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		GCATGTTTTTCGAAAAGAACA	0.348																																						ENST00000414706.1																			0				endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17						c.(397-399)Cga>Aga		zinc finger protein 557							82.0	81.0	82.0					19																	7082034		1864	4136	6000	SO:0001819	synonymous_variant	79230				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:7082034C>A	AK095524	CCDS42485.1, CCDS45945.1	19p13.2	2013-09-20			ENSG00000130544	ENSG00000130544		"""Zinc fingers, C2H2-type"", ""-"""	28632	protein-coding gene	gene with protein product						12477932	Standard	NM_024341		Approved	MGC4054	uc002mgc.3	Q8N988	OTTHUMG00000181977	ENST00000439035.2:c.376C>A	19.37:g.7082034C>A						ZNF557_ENST00000252840.6_Silent_p.R133R|ZNF557_ENST00000439035.2_Silent_p.R126R	p.R133R	NM_001044387.1|NM_001044388.1|NM_024341.2	NP_001037852.1|NP_001037853.1|NP_077317.2	Q8N988	ZN557_HUMAN		Lung(535;0.179)	7	870	+			126					Q6PEJ3|Q9BTZ1	Silent	SNP	ENST00000439035.2	37	c.397C>A	CCDS45945.1																																																																																				0.348	ZNF557-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458502.1	NM_024341		10	487	1	0	0.00010058	0.00010058	0.0072096	10	487				
SYNJ1	8867	broad.mit.edu	37	21	34051075	34051075	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr21:34051075G>T	ENST00000322229.7	-	11	1389	c.1390C>A	c.(1390-1392)Cag>Aag	p.Q464K	SYNJ1_ENST00000357345.3_Missense_Mutation_p.Q464K|SYNJ1_ENST00000433931.2_Missense_Mutation_p.Q503K|SYNJ1_ENST00000382499.2_Missense_Mutation_p.Q503K|SYNJ1_ENST00000382491.3_Missense_Mutation_p.Q467K			O43426	SYNJ1_HUMAN	synaptojanin 1	464					cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						AAGTTATTCTGAATTGTTCGG	0.378																																						ENST00000382499.2																			0				breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						c.(1507-1509)Cag>Aag		synaptojanin 1							94.0	92.0	93.0					21																	34051075		2203	4300	6503	SO:0001583	missense	8867						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr21:34051075G>T	AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.1390C>A	21.37:g.34051075G>T	ENSP00000322234:p.Gln464Lys					SYNJ1_ENST00000322229.7_Missense_Mutation_p.Q464K|SYNJ1_ENST00000382491.3_Missense_Mutation_p.Q467K|SYNJ1_ENST00000433931.2_Missense_Mutation_p.Q503K|SYNJ1_ENST00000357345.3_Missense_Mutation_p.Q464K	p.Q503K	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN			12	1506	-			464			Catalytic (Potential).		O43425|O94984|Q4KMR1	Missense_Mutation	SNP	ENST00000322229.7	37	c.1507C>A	CCDS54484.1	.	.	.	.	.	.	.	.	.	.	G	35	5.482666	0.96307	.	.	ENSG00000159082	ENST00000382491;ENST00000357345;ENST00000382499;ENST00000433931;ENST00000322229;ENST00000429236	T;T;T;T;T;T	0.25414	1.8;1.8;1.8;1.8;1.8;1.8	5.99	5.99	0.97316	.	0.118964	0.64402	D	0.000008	T	0.44705	0.1306	L	0.39020	1.185	0.80722	D	1	P;P;D;P;D	0.67145	0.64;0.719;0.994;0.739;0.996	B;B;P;P;D	0.72982	0.243;0.348;0.904;0.574;0.979	T	0.14755	-1.0461	10	0.54805	T	0.06	.	20.4777	0.99188	0.0:0.0:1.0:0.0	.	467;503;464;464;464	B9EGN3;C9JFZ1;O43426-2;O43426;O43426-4	.;.;.;SYNJ1_HUMAN;.	K	467;464;503;503;464;467	ENSP00000371931:Q467K;ENSP00000349903:Q464K;ENSP00000371939:Q503K;ENSP00000409667:Q503K;ENSP00000322234:Q464K;ENSP00000413649:Q467K	ENSP00000322234:Q464K	Q	-	1	0	SYNJ1	32972946	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.814000	0.99346	2.840000	0.97914	0.655000	0.94253	CAG		0.378	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				10	592	1	0	5.50884e-06	0.00010058	0.000617672	10	592				
ZNF845	91664	broad.mit.edu	37	19	53855284	53855284	+	Silent	SNP	G	G	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:53855284G>A	ENST00000595091.1	+	5	1575	c.1356G>A	c.(1354-1356)tcG>tcA	p.S452S	ZNF845_ENST00000458035.1_Silent_p.S452S			Q96IR2	ZN845_HUMAN	zinc finger protein 845	452					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.S452S(2)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						GTTTCAAATCGAACCTTGAAA	0.398																																						ENST00000458035.1																			2	Substitution - coding silent(2)	p.S452S(2)	prostate(1)|kidney(1)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(1354-1356)tcG>tcA		zinc finger protein 845							26.0	24.0	25.0					19																	53855284		692	1590	2282	SO:0001819	synonymous_variant	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53855284G>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.1356G>A	19.37:g.53855284G>A						ZNF845_ENST00000595091.1_Silent_p.S452S	p.S452S	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	1473	+			452						Silent	SNP	ENST00000595091.1	37	c.1356G>A	CCDS46170.1																																																																																				0.398	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		7	491	0	0	0	1.12685e-05	0	7	491				
RAP1B	5908	broad.mit.edu	37	12	69050210	69050210	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr12:69050210C>A	ENST00000250559.9	+	6	680	c.449C>A	c.(448-450)tCa>tAa	p.S150*	RAP1B_ENST00000543393.1_Nonsense_Mutation_p.S84*|RAP1B_ENST00000539091.1_Nonsense_Mutation_p.S108*|RAP1B_ENST00000543697.1_Intron|RAP1B_ENST00000542145.1_Nonsense_Mutation_p.S103*|RAP1B_ENST00000378985.3_Nonsense_Mutation_p.S84*|RAP1B_ENST00000341355.5_Nonsense_Mutation_p.S150*|RAP1B_ENST00000537460.1_Nonsense_Mutation_p.S150*|RAP1B_ENST00000463493.1_3'UTR|RAP1B_ENST00000450214.2_Nonsense_Mutation_p.S108*|RAP1B_ENST00000541216.1_Nonsense_Mutation_p.S150*|RAP1B_ENST00000393436.5_Nonsense_Mutation_p.S150*|RAP1B_ENST00000540209.1_Nonsense_Mutation_p.S131*	NM_001010942.2|NM_001251921.1|NM_001251922.1|NM_015646.5	NP_001010942.1|NP_001238850.1|NP_001238851.1|NP_056461.1	P61224	RAP1B_HUMAN	RAP1B, member of RAS oncogene family	150					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cellular response to cAMP (GO:0071320)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of establishment of cell polarity (GO:2000114)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)|urinary_tract(2)	12	Breast(13;1.24e-05)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)	GBM - Glioblastoma multiforme(7;0.000306)		TCTGCAAAATCAAAAATAAAT	0.338																																						ENST00000250559.9																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)|urinary_tract(2)	12						c.(448-450)tCa>tAa		RAP1B, member of RAS oncogene family							126.0	132.0	130.0					12																	69050210		2202	4299	6501	SO:0001587	stop_gained	5908				blood coagulation|energy reserve metabolic process|regulation of establishment of cell polarity|regulation of insulin secretion	cell-cell junction|cytosol	GDP binding|GTP binding|GTPase activity|protein binding	g.chr12:69050210C>A		CCDS8984.1, CCDS58252.1, CCDS58253.1, CCDS58254.1	12q14	2014-05-09			ENSG00000127314	ENSG00000127314			9857	protein-coding gene	gene with protein product		179530				3137530, 12089143	Standard	NM_015646		Approved	K-REV, RAL1B, DKFZp586H0723	uc001suc.3	P61224	OTTHUMG00000133660	ENST00000250559.9:c.449C>A	12.37:g.69050210C>A	ENSP00000250559:p.Ser150*					RAP1B_ENST00000537460.1_Nonsense_Mutation_p.S150*|RAP1B_ENST00000378985.3_Nonsense_Mutation_p.S84*|RAP1B_ENST00000543393.1_Nonsense_Mutation_p.S84*|RAP1B_ENST00000541216.1_Nonsense_Mutation_p.S150*|RAP1B_ENST00000393436.5_Nonsense_Mutation_p.S150*|RAP1B_ENST00000341355.5_Nonsense_Mutation_p.S150*|RAP1B_ENST00000540209.1_Nonsense_Mutation_p.S131*|RAP1B_ENST00000542145.1_Nonsense_Mutation_p.S103*|RAP1B_ENST00000543697.1_Intron|RAP1B_ENST00000539091.1_Nonsense_Mutation_p.S108*|RAP1B_ENST00000463493.1_3'UTR|RAP1B_ENST00000450214.2_Nonsense_Mutation_p.S108*	p.S150*	NM_001010942.2|NM_001251921.1|NM_001251922.1|NM_015646.5	NP_001010942.1|NP_001238850.1|NP_001238851.1|NP_056461.1	P61224	RAP1B_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)	GBM - Glioblastoma multiforme(7;0.000306)	6	680	+	Breast(13;1.24e-05)		150					B2R5Z2|B4DQI8|B4DW74|B4DW94|P09526|Q502X3|Q5TZR4|Q6DCA1|Q6LES0	Nonsense_Mutation	SNP	ENST00000250559.9	37	c.449C>A	CCDS8984.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.817521	0.90790	.	.	ENSG00000127314	ENST00000250559;ENST00000393436;ENST00000425247;ENST00000341355;ENST00000537460;ENST00000450214;ENST00000538980;ENST00000543393;ENST00000378985;ENST00000540209;ENST00000535492;ENST00000539091;ENST00000542145;ENST00000541216	.	.	.	5.6	5.6	0.85130	.	0.136637	0.48767	D	0.000161	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9958	0.97383	0.0:1.0:0.0:0.0	.	.	.	.	X	150;150;150;150;150;108;99;84;84;131;84;108;103;150	.	.	S	+	2	0	RAP1B	67336477	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.532000	0.60608	2.802000	0.96397	0.561000	0.74099	TCA		0.338	RAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257821.3	NM_001010942		15	506	1	0	3.83957e-06	4.16121e-05	0.000462318	15	506				
PCDHA9	9752	broad.mit.edu	37	5	140228096	140228096	+	Nonsense_Mutation	SNP	C	C	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr5:140228096C>T	ENST00000532602.1	+	1	1049	c.16C>T	c.(16-18)Cga>Tga	p.R6*	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000378122.3_Nonsense_Mutation_p.R6*|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	6					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATACTCAAGTCGAGGAGATCC	0.488																																					Melanoma(55;1800 1972 14909)	ENST00000378122.3																			0				breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59						c.(16-18)Cga>Tga									84.0	87.0	86.0					5																	140228096		2197	4269	6466	SO:0001587	stop_gained	0							g.chr5:140228096C>T	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.16C>T	5.37:g.140228096C>T	ENSP00000436042:p.Arg6*					PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Nonsense_Mutation_p.R6*	p.R6*	NM_014005.3	NP_054724.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	740	+								O15053|Q2M3S5	Nonsense_Mutation	SNP	ENST00000532602.1	37	c.16C>T	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	C	39	7.294141	0.98192	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	.	.	.	3.73	-0.921	0.10472	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.4352	0.16478	0.4129:0.2254:0.3617:0.0	.	.	.	.	X	6	.	ENSP00000367362:R6X	R	+	1	2	PCDHA9	140208280	0.000000	0.05858	0.000000	0.03702	0.187000	0.23431	-0.372000	0.07504	-0.010000	0.14271	0.591000	0.81541	CGA		0.488	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		87	670	0	0	0	0.000147903	0	87	670				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522772	95522772	+	RNA	SNP	T	T	C	rs368571207		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	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			5	259	0	0	0	0.000157383	0	5	259				
ANAPC1	64682	broad.mit.edu	37	2	112614406	112614406	+	Silent	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:112614406G>T	ENST00000341068.3	-	12	2188	c.1416C>A	c.(1414-1416)acC>acA	p.T472T		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	472					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						CTGGTATGTTGGTCACTGAAC	0.358																																						ENST00000341068.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						c.(1414-1416)acC>acA		anaphase promoting complex subunit 1							91.0	85.0	87.0					2																	112614406		2203	4300	6503	SO:0001819	synonymous_variant	64682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|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|cytosol|nucleoplasm		g.chr2:112614406G>T	AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"""Anaphase promoting complex subunits"""	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.1416C>A	2.37:g.112614406G>T							p.T472T	NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN			12	2188	-			472					Q2M3H8|Q9BSE6|Q9H8D0	Silent	SNP	ENST00000341068.3	37	c.1416C>A	CCDS2093.1	.	.	.	.	.	.	.	.	.	.	G	3.478	-0.106555	0.06924	.	.	ENSG00000153107	ENST00000427997	.	.	.	4.09	1.16	0.20824	.	.	.	.	.	T	0.55784	0.1942	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48234	-0.9053	4	.	.	.	-12.8832	8.521	0.33275	0.3365:0.0:0.6635:0.0	.	.	.	.	K	7	.	.	Q	-	1	0	ANAPC1	112330877	1.000000	0.71417	0.949000	0.38748	0.426000	0.31534	2.431000	0.44775	0.305000	0.22832	-0.291000	0.09656	CAA		0.358	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	NM_022662		9	592	1	0	3.86212e-05	3.86212e-05	0.00332401	9	592				
ZNF676	163223	broad.mit.edu	37	19	22363008	22363008	+	Missense_Mutation	SNP	C	C	G	rs202153135		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:22363008C>G	ENST00000397121.2	-	3	1828	c.1511G>C	c.(1510-1512)cGc>cCc	p.R504P		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	504					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)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				ACATTTGTAGCGTTTCTCTCC	0.388													G|||	1	0.000199681	0.0008	0.0	5008	,	,		22831	0.0		0.0	False		,,,				2504	0.0					ENST00000397121.2																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67						c.(1510-1512)cGc>cCc		zinc finger protein 676							64.0	69.0	67.0					19																	22363008		2162	4278	6440	SO:0001583	missense	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22363008C>G	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.1511G>C	19.37:g.22363008C>G	ENSP00000380310:p.Arg504Pro						p.R504P	NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN			3	1828	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	504					A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	c.1511G>C	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.478407	0.00165	.	.	ENSG00000196109	ENST00000397121	T	0.10382	2.88	0.81	-1.62	0.08372	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02571	0.0078	N	0.01431	-0.87	0.21105	N	0.999784	B	0.09022	0.002	B	0.10450	0.005	T	0.39014	-0.9634	9	0.02654	T	1	.	4.9138	0.13835	0.0:0.2226:0.5595:0.2178	.	504	Q8N7Q3	ZN676_HUMAN	P	504	ENSP00000380310:R504P	ENSP00000380310:R504P	R	-	2	0	ZNF676	22154848	0.003000	0.15002	0.050000	0.19076	0.051000	0.14879	0.735000	0.26115	-1.275000	0.02417	-1.271000	0.01417	CGC		0.388	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		6	603	0	0	0	5.84002e-05	0	6	603				
MCCC2	64087	broad.mit.edu	37	5	70931068	70931068	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr5:70931068C>A	ENST00000340941.6	+	10	1123	c.994C>A	c.(994-996)Cga>Aga	p.R332R	MCCC2_ENST00000510895.2_3'UTR|MCCC2_ENST00000323375.8_Silent_p.R294R|MCCC2_ENST00000509358.2_Silent_p.R332R	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-CoA carboxylase 2 (beta)	332	Carboxyltransferase.				biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|coenzyme A metabolic process (GO:0015936)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	CTTTGATGTCCGAGAGGTATG	0.393																																						ENST00000340941.6																			0				endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30	GRCh37	CM053319	MCCC2	M		c.(994-996)Cga>Aga		methylcrotonoyl-CoA carboxylase 2 (beta)	Biotin(DB00121)						132.0	132.0	132.0					5																	70931068		2203	4300	6503	SO:0001819	synonymous_variant	64087				leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity	g.chr5:70931068C>A	AF310971	CCDS34184.1	5q12-q13	2010-04-30	2010-04-30		ENSG00000131844	ENSG00000131844	6.4.1.4		6937	protein-coding gene	gene with protein product		609014	"""methylcrotonoyl-Coenzyme A carboxylase 2 (beta)"""				Standard	NM_022132		Approved	MCCB	uc003kbs.4	Q9HCC0	OTTHUMG00000162505	ENST00000340941.6:c.994C>A	5.37:g.70931068C>A						MCCC2_ENST00000509358.2_Silent_p.R332R|MCCC2_ENST00000510895.2_3'UTR|MCCC2_ENST00000323375.8_Silent_p.R294R	p.R332R	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	10	1123	+		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)	332			Carboxyltransferase.		A6NIY9|Q96C27|Q9Y4L7	Silent	SNP	ENST00000340941.6	37	c.994C>A	CCDS34184.1																																																																																				0.393	MCCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369243.4			7	397	1	0	0.000157383	0.000157383	0.00973904	7	397				
ZNF845	91664	broad.mit.edu	37	19	53855365	53855365	+	Silent	SNP	A	A	G			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:53855365A>G	ENST00000595091.1	+	5	1656	c.1437A>G	c.(1435-1437)acA>acG	p.T479T	ZNF845_ENST00000458035.1_Silent_p.T479T			Q96IR2	ZN845_HUMAN	zinc finger protein 845	479					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(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TCAGTCAGACATCATCCCTTG	0.378																																						ENST00000458035.1																			0				endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(1435-1437)acA>acG		zinc finger protein 845							33.0	30.0	31.0					19																	53855365		692	1590	2282	SO:0001819	synonymous_variant	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53855365A>G	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.1437A>G	19.37:g.53855365A>G						ZNF845_ENST00000595091.1_Silent_p.T479T	p.T479T	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	1554	+			479						Silent	SNP	ENST00000595091.1	37	c.1437A>G	CCDS46170.1																																																																																				0.378	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		6	580	0	0	0	2.17888e-05	0	6	580				
RP1	6101	broad.mit.edu	37	8	55539537	55539537	+	Missense_Mutation	SNP	A	A	G			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr8:55539537A>G	ENST00000220676.1	+	4	3243	c.3095A>G	c.(3094-3096)aAt>aGt	p.N1032S		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1032					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TCAGCTATTAATGATCATAAT	0.378																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(3094-3096)aAt>aGt		retinitis pigmentosa 1 (autosomal dominant)							158.0	173.0	168.0					8																	55539537		2203	4300	6503	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55539537A>G	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.3095A>G	8.37:g.55539537A>G	ENSP00000220676:p.Asn1032Ser						p.N1032S	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	3243	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	1032						Missense_Mutation	SNP	ENST00000220676.1	37	c.3095A>G	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	A	2.654	-0.281375	0.05642	.	.	ENSG00000104237	ENST00000220676	T	0.20881	2.04	5.32	1.41	0.22369	.	0.779574	0.11892	N	0.519542	T	0.08891	0.0220	N	0.04959	-0.14	0.09310	N	1	B	0.14805	0.011	B	0.15870	0.014	T	0.29150	-1.0021	10	0.41790	T	0.15	.	3.9076	0.09190	0.5898:0.0:0.2595:0.1508	.	1032	P56715	RP1_HUMAN	S	1032	ENSP00000220676:N1032S	ENSP00000220676:N1032S	N	+	2	0	RP1	55702090	0.000000	0.05858	0.006000	0.13384	0.072000	0.16883	-0.139000	0.10358	0.435000	0.26365	0.533000	0.62120	AAT		0.378	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		210	784	0	0	0	0.000147903	0	210	784				
SNHG14	104472715	broad.mit.edu	37	15	25328776	25328776	+	RNA	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr15:25328776G>T	ENST00000546682.1	+	0	320				SNORD116-15_ENST00000384445.1_RNA|SNORD116-17_ENST00000383929.1_RNA|SNORD116-16_ENST00000384533.1_RNA|SNHG14_ENST00000549804.2_RNA|SNORD116-19_ENST00000384729.1_RNA|SNORD116-18_ENST00000383961.1_RNA|SNHG14_ENST00000553108.1_RNA	NR_003361.1				small nucleolar RNA host gene 14 (non-protein coding)																		TTGGAAAGCTGAACAAAATGA	0.418																																						ENST00000546682.1																			0																				303.0	264.0	276.0					15																	25328776		876	1989	2865			0							g.chr15:25328776G>T			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25328776G>T						SNHG14_ENST00000549804.2_RNA|SNORD116-17_ENST00000383929.1_RNA		NR_003361.1						0	320	+									RNA	SNP	ENST00000546682.1	37																																																																																						0.418	SNHG14-022	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000408281.1			16	1632	1	0	0.000157383	0.000157383	0.00973904	16	1632				
TGOLN2	10618	broad.mit.edu	37	2	85554478	85554478	+	Nonsense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:85554478G>T	ENST00000409232.3	-	2	438	c.377C>A	c.(376-378)tCg>tAg	p.S126*	TGOLN2_ENST00000377386.3_Nonsense_Mutation_p.S126*|TGOLN2_ENST00000282120.2_Intron|TGOLN2_ENST00000444342.2_Nonsense_Mutation_p.S126*|TGOLN2_ENST00000398263.2_Nonsense_Mutation_p.S126*|TGOLN2_ENST00000409015.1_Nonsense_Mutation_p.S126*			O43493	TGON2_HUMAN	trans-golgi network protein 2	126	14 X 14 AA tandem repeats.					Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)											CTCCGGATGCGACTTACTAGT	0.592																																						ENST00000377386.3																			0											c.(376-378)tCg>tAg		trans-golgi network protein 2							351.0	349.0	349.0					2																	85554478		1981	4151	6132	SO:0001587	stop_gained	10618					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding	g.chr2:85554478G>T	AF027515	CCDS46351.1, CCDS56126.1, CCDS56127.1	2p11.2	2012-06-25			ENSG00000152291	ENSG00000152291			15450	protein-coding gene	gene with protein product	"""trans-Golgi network protein (46, 48, 51kD isoforms)"""	603062				9422759, 21994457	Standard	NM_001206840		Approved	TGN51, TGN46, TGN48, TGN38, TTGN2	uc021vjw.1	O43493	OTTHUMG00000153017	ENST00000409232.3:c.377C>A	2.37:g.85554478G>T	ENSP00000386443:p.Ser126*					TGOLN2_ENST00000398263.2_Nonsense_Mutation_p.S126*|TGOLN2_ENST00000444342.2_Nonsense_Mutation_p.S126*|TGOLN2_ENST00000409015.1_Nonsense_Mutation_p.S126*|TGOLN2_ENST00000282120.2_Intron|TGOLN2_ENST00000409232.3_Nonsense_Mutation_p.S126*	p.S126*			O43493	TGON2_HUMAN			2	839	-			126			14 X 14 AA tandem repeats.		B2R686|B8ZZ88|D6W5K3|F8WBK2|O15282|O43492|O43499|O43500|O43501|Q53G68|Q53GV2|Q6MZV1|Q6ZTM7|Q8N6T8|Q92760|Q96QL2	Nonsense_Mutation	SNP	ENST00000409232.3	37	c.377C>A	CCDS56126.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.273883	0.80580	.	.	ENSG00000152291	ENST00000377386;ENST00000398263;ENST00000409232;ENST00000409015;ENST00000444342	.	.	.	2.74	-2.83	0.05769	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.7418	4.9072	0.13804	0.5492:0.1668:0.2841:0.0	.	.	.	.	X	126	.	ENSP00000366603:S126X	S	-	2	0	TGOLN2	85407989	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.923000	0.04000	-0.843000	0.04189	-0.579000	0.04138	TCG		0.592	TGOLN2-006	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000329045.2	NM_006464		19	2565	1	0	0.000157383	0.000157383	0.00973904	19	2565				
EPB41	2035	broad.mit.edu	37	1	29359683	29359683	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:29359683C>A	ENST00000343067.4	+	9	1418	c.1291C>A	c.(1291-1293)Cgc>Agc	p.R431S	EPB41_ENST00000373797.1_Missense_Mutation_p.R431S|EPB41_ENST00000398863.2_Missense_Mutation_p.R431S|EPB41_ENST00000373800.3_Missense_Mutation_p.R222S|EPB41_ENST00000349460.4_Missense_Mutation_p.R222S|EPB41_ENST00000373798.1_Missense_Mutation_p.R431S|EPB41_ENST00000356093.2_Missense_Mutation_p.R431S|EPB41_ENST00000347529.3_Missense_Mutation_p.R396S	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1	431	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin cytoskeleton organization (GO:0030036)|blood circulation (GO:0008015)|cortical actin cytoskeleton organization (GO:0030866)|positive regulation of protein binding (GO:0032092)	cortical cytoskeleton (GO:0030863)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	1-phosphatidylinositol binding (GO:0005545)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		GAGAATTAACCGCTTCCCTTG	0.408																																						ENST00000343067.4																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14						c.(1291-1293)Cgc>Agc		erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)							115.0	112.0	113.0					1																	29359683		2203	4300	6503	SO:0001583	missense	2035				blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton	g.chr1:29359683C>A	BC039079	CCDS330.1, CCDS331.1, CCDS332.1, CCDS53288.1, CCDS53289.1	1p33-p32	2014-05-09	2014-05-09		ENSG00000159023	ENSG00000159023			3377	protein-coding gene	gene with protein product		130500	"""elliptocytosis 1, RH-linked"""	EL1			Standard	NM_001166005		Approved	4.1R	uc001brm.2	P11171	OTTHUMG00000003644	ENST00000343067.4:c.1291C>A	1.37:g.29359683C>A	ENSP00000345259:p.Arg431Ser					EPB41_ENST00000356093.2_Missense_Mutation_p.R431S|EPB41_ENST00000398863.2_Missense_Mutation_p.R431S|EPB41_ENST00000373797.1_Missense_Mutation_p.R431S|EPB41_ENST00000373798.1_Missense_Mutation_p.R431S|EPB41_ENST00000373800.3_Missense_Mutation_p.R222S|EPB41_ENST00000347529.3_Missense_Mutation_p.R396S|EPB41_ENST00000349460.4_Missense_Mutation_p.R222S	p.R431S	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)	9	1418	+		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)	431			FERM.		B1ALH8|B1ALH9|D3DPM9|D3DPN0|P11176|Q14245|Q5TB35|Q5VXN8|Q8IXV9|Q9Y578|Q9Y579	Missense_Mutation	SNP	ENST00000343067.4	37	c.1291C>A	CCDS53288.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.991544	0.93106	.	.	ENSG00000159023	ENST00000358989;ENST00000343067;ENST00000356093;ENST00000398863;ENST00000398861;ENST00000398865;ENST00000349460;ENST00000373800;ENST00000347529;ENST00000373798;ENST00000373797	D;D;D;D;D;D;D;D	0.85773	-2.03;-2.03;-2.03;-2.03;-2.03;-2.03;-2.03;-2.03	5.97	5.97	0.96955	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.88998	0.6590	L	0.39566	1.225	0.80722	D	1	D;P;D;D;D;D;D;D;D;D	0.89917	1.0;0.859;0.997;0.999;0.991;0.996;1.0;0.986;0.998;1.0	D;P;D;D;P;P;D;P;D;D	0.91635	0.99;0.765;0.932;0.984;0.83;0.888;0.999;0.895;0.984;0.999	D	0.89328	0.3645	10	0.87932	D	0	.	14.2724	0.66159	0.1486:0.8514:0.0:0.0	.	325;431;431;431;431;431;448;396;222;222	E9PEX0;E9PEW9;C9JTS2;P11171;P11171-2;P11171-7;Q59F12;P11171-5;P11171-4;P11171-3	.;.;.;41_HUMAN;.;.;.;.;.;.	S	448;431;431;431;325;431;222;222;396;431;431	ENSP00000345259:R431S;ENSP00000348397:R431S;ENSP00000381839:R431S;ENSP00000317597:R222S;ENSP00000362906:R222S;ENSP00000290100:R396S;ENSP00000362904:R431S;ENSP00000362903:R431S	ENSP00000345259:R431S	R	+	1	0	EPB41	29232270	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.696000	0.61774	2.834000	0.97654	0.650000	0.86243	CGC		0.408	EPB41-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010312.1	NM_203342		7	462	1	0	0.000157383	0.000157383	0.00973904	7	462				
COL4A3BP	10087	broad.mit.edu	37	5	74754979	74754979	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr5:74754979C>A	ENST00000405807.4	-	3	680	c.259G>T	c.(259-261)Gat>Tat	p.D87Y	COL4A3BP_ENST00000380494.5_Missense_Mutation_p.D215Y|COL4A3BP_ENST00000261415.7_Missense_Mutation_p.D87Y	NM_005713.2	NP_005704.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein	87	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|ceramide metabolic process (GO:0006672)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi ceramide transport (GO:0035621)|heart morphogenesis (GO:0003007)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|lipid homeostasis (GO:0055088)|mitochondrion morphogenesis (GO:0070584)|muscle contraction (GO:0006936)|protein phosphorylation (GO:0006468)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ceramide binding (GO:0097001)|ceramide transporter activity (GO:0035620)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein kinase activity (GO:0004672)			breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		ACACTAATATCAAATCGACAT	0.378																																						ENST00000380494.5																			0				breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16						c.(643-645)Gat>Tat		collagen, type IV, alpha 3 (Goodpasture antigen) binding protein							168.0	142.0	150.0					5																	74754979		2203	4300	6503	SO:0001583	missense	10087				ER to Golgi ceramide transport|immune response	cytosol|endoplasmic reticulum membrane|Golgi apparatus	ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity	g.chr5:74754979C>A	AF136450	CCDS4028.1, CCDS4029.1, CCDS47235.1	5q13.3	2013-01-10	2007-06-08	2007-06-08	ENSG00000113163	ENSG00000113163		"""StAR-related lipid transfer (START) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2205	protein-coding gene	gene with protein product	"""ceramide transporter"", ""StAR-related lipid transfer (START) domain containing 11"""	604677				10212244	Standard	NM_001130105		Approved	GPBP, STARD11, CERT	uc003kdt.3	Q9Y5P4	OTTHUMG00000102068	ENST00000405807.4:c.259G>T	5.37:g.74754979C>A	ENSP00000383996:p.Asp87Tyr					COL4A3BP_ENST00000261415.7_Missense_Mutation_p.D87Y|COL4A3BP_ENST00000405807.4_Missense_Mutation_p.D87Y	p.D215Y	NM_001130105.1	NP_001123577.1	Q9Y5P4	C43BP_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1e-53)	4	936	-		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)	87					A8K7S2|B3KUB7|Q53YV1|Q53YV2|Q96Q85|Q96Q88|Q9H2S7|Q9H2S8	Missense_Mutation	SNP	ENST00000405807.4	37	c.643G>T	CCDS4028.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.742024	0.89573	.	.	ENSG00000113163	ENST00000405807;ENST00000380494;ENST00000261415	T;T;T	0.12465	2.68;2.68;2.68	5.35	5.35	0.76521	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.37598	0.1009	M	0.62088	1.915	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.999	D;D;D	0.87578	0.998;0.996;0.998	T	0.09422	-1.0675	10	0.87932	D	0	-1.6075	18.6597	0.91468	0.0:1.0:0.0:0.0	.	87;215;87	Q9Y5P4;Q9Y5P4-3;Q9Y5P4-2	C43BP_HUMAN;.;.	Y	87;215;87	ENSP00000383996:D87Y;ENSP00000369862:D215Y;ENSP00000261415:D87Y	ENSP00000261415:D87Y	D	-	1	0	COL4A3BP	74790735	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.682000	0.84083	2.493000	0.84123	0.563000	0.77884	GAT		0.378	COL4A3BP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219875.2	NM_005713		8	350	1	0	0.000157383	0.000157383	0.00973904	8	350				
SH3TC2	79628	broad.mit.edu	37	5	148417924	148417924	+	Nonsense_Mutation	SNP	G	G	T	rs151205080		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr5:148417924G>T	ENST00000515425.1	-	8	1036	c.935C>A	c.(934-936)tCg>tAg	p.S312*	SH3TC2_ENST00000538184.1_5'UTR|SH3TC2_ENST00000512049.1_Nonsense_Mutation_p.S305*|SH3TC2_ENST00000394358.2_Nonsense_Mutation_p.S197*|SH3TC2_ENST00000513340.1_5'Flank	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	312	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAACTTGTCGACTTTCCAAT	0.468																																						ENST00000515425.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39						c.(934-936)tCg>tAg		SH3 domain and tetratricopeptide repeats 2							197.0	187.0	190.0					5																	148417924		2203	4300	6503	SO:0001587	stop_gained	79628						binding	g.chr5:148417924G>T	AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"""Tetratricopeptide (TTC) repeat domain containing"""	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.935C>A	5.37:g.148417924G>T	ENSP00000423660:p.Ser312*					SH3TC2_ENST00000394358.2_Nonsense_Mutation_p.S197*|SH3TC2_ENST00000512049.1_Nonsense_Mutation_p.S305*|SH3TC2_ENST00000538184.1_5'UTR	p.S312*	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		8	1036	-			312			SH3.		B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Nonsense_Mutation	SNP	ENST00000515425.1	37	c.935C>A	CCDS4293.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.768002	0.90020	.	.	ENSG00000169247	ENST00000515425;ENST00000512049;ENST00000394358	.	.	.	4.88	3.99	0.46301	.	0.251785	0.30639	N	0.009183	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.0496	0.53500	0.0875:0.0:0.9125:0.0	.	.	.	.	X	312;305;197	.	ENSP00000377886:S197X	S	-	2	0	SH3TC2	148398117	0.999000	0.42202	0.942000	0.38095	0.466000	0.32739	3.224000	0.51238	2.424000	0.82194	0.561000	0.74099	TCG		0.468	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2	NM_024577		9	746	1	0	3.86212e-05	3.86212e-05	0.00332401	9	746				
TNRC6B	23112	broad.mit.edu	37	22	40662002	40662002	+	Missense_Mutation	SNP	C	C	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr22:40662002C>T	ENST00000454349.2	+	5	1979	c.1768C>T	c.(1768-1770)Cgt>Tgt	p.R590C	TNRC6B_ENST00000301923.9_Intron|TNRC6B_ENST00000335727.9_Missense_Mutation_p.R590C|TNRC6B_ENST00000402203.1_Intron	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	590	Interaction with argonaute proteins.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)	1						TAACTCTGGCCGTCGGTCGTA	0.527																																						ENST00000454349.2																			0				breast(1)	1						c.(1768-1770)Cgt>Tgt		trinucleotide repeat containing 6B							108.0	113.0	111.0					22																	40662002		2001	4172	6173	SO:0001583	missense	23112				gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding	g.chr22:40662002C>T	AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"""Trinucleotide (CAG) repeat containing"""	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.1768C>T	22.37:g.40662002C>T	ENSP00000401946:p.Arg590Cys					TNRC6B_ENST00000335727.8_Missense_Mutation_p.R590C|TNRC6B_ENST00000301923.9_Intron|TNRC6B_ENST00000402203.1_Intron	p.R590C	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN			5	1979	+			590					B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Missense_Mutation	SNP	ENST00000454349.2	37	c.1768C>T	CCDS54533.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.539333	0.45176	.	.	ENSG00000100354	ENST00000454349;ENST00000400140;ENST00000335727	T;T	0.14022	2.56;2.54	5.53	5.53	0.82687	.	0.106556	0.64402	D	0.000003	T	0.23965	0.0580	N	0.22421	0.69	0.50467	D	0.999871	D;D;D	0.89917	1.0;0.998;0.996	D;B;P	0.76575	0.988;0.446;0.649	T	0.01276	-1.1398	10	0.56958	D	0.05	-4.2093	14.3069	0.66391	0.1485:0.8515:0.0:0.0	.	590;590;590	Q9UPQ9;A8MYY3;Q9UPQ9-1	TNR6B_HUMAN;.;.	C	590	ENSP00000401946:R590C;ENSP00000338371:R590C	ENSP00000338371:R590C	R	+	1	0	TNRC6B	38991948	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.492000	0.53259	2.607000	0.88179	0.555000	0.69702	CGT		0.527	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	protein_coding				74	612	0	0	0	0.000147903	0	74	612				
SMAD4	4089	broad.mit.edu	37	18	48591918	48591918	+	Missense_Mutation	SNP	C	C	T	rs80338963		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr18:48591918C>T	ENST00000342988.3	+	9	1619	c.1081C>T	c.(1081-1083)Cgc>Tgc	p.R361C	SMAD4_ENST00000398417.2_Missense_Mutation_p.R361C|SMAD4_ENST00000588745.1_Missense_Mutation_p.R265C	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	361	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.		R -> C (in JPS; dbSNP:rs80338963). {ECO:0000269|PubMed:9811934}.|R -> H (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.R361C(3)|p.R361S(2)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TGGAGGAGATCGCTTTTGTTT	0.413																																						ENST00000342988.3																			43	Whole gene deletion(36)|Substitution - Missense(5)|Unknown(2)	p.0?(36)|p.R361C(3)|p.R361S(2)|p.?(2)	pancreas(26)|large_intestine(4)|lung(3)|breast(3)|stomach(2)|small_intestine(2)|upper_aerodigestive_tract(1)|biliary_tract(1)|oesophagus(1)	NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454	GRCh37	CM040450|CM041789|CM981228	SMAD4	M	rs80338963	c.(1081-1083)Cgc>Tgc		SMAD family member 4							179.0	149.0	159.0					18																	48591918		2203	4300	6503	SO:0001583	missense	4089				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48591918C>T	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1081C>T	18.37:g.48591918C>T	ENSP00000341551:p.Arg361Cys					SMAD4_ENST00000588745.1_Missense_Mutation_p.R265C|SMAD4_ENST00000398417.2_Missense_Mutation_p.R361C	p.R361C	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	9	1619	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	361		R -> C (in JPS).|R -> H (in a colorectal cancer sample; somatic mutation).	MH2.		A8K405	Missense_Mutation	SNP	ENST00000342988.3	37	c.1081C>T	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.820743	0.90873	.	.	ENSG00000141646	ENST00000342988;ENST00000544926;ENST00000398417	D;D	0.98164	-4.76;-4.76	5.86	5.86	0.93980	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.99275	0.9747	M	0.94021	3.485	0.80722	A	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99157	1.0860	9	0.87932	D	0	.	18.9646	0.92691	0.0:1.0:0.0:0.0	.	361	Q13485	SMAD4_HUMAN	C	361	ENSP00000341551:R361C;ENSP00000381452:R361C	ENSP00000341551:R361C	R	+	1	0	SMAD4	46845916	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.718000	0.61930	2.771000	0.95319	0.563000	0.77884	CGC		0.413	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359		81	286	0	0	0	0.000147903	0	81	286				
OR7G3	390883	broad.mit.edu	37	19	9237378	9237378	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:9237378C>A	ENST00000305444.2	-	1	248	c.249G>T	c.(247-249)gtG>gtT	p.V83V		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	83						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						CCTGGATGTTCACCAGCATCT	0.502																																						ENST00000305444.2																			0				NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(247-249)gtG>gtT		olfactory receptor, family 7, subfamily G, member 3							151.0	125.0	134.0					19																	9237378		2203	4300	6503	SO:0001819	synonymous_variant	390883				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9237378C>A		CCDS32899.1	19p13.2	2013-09-24			ENSG00000170920	ENSG00000170920		"""GPCR / Class A : Olfactory receptors"""	8467	protein-coding gene	gene with protein product							Standard	NM_001001958		Approved	OST085	uc010xkl.2	Q8NG95	OTTHUMG00000165520	ENST00000305444.2:c.249G>T	19.37:g.9237378C>A							p.V83V	NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN			1	248	-			83					Q6IFJ6|Q96R99	Silent	SNP	ENST00000305444.2	37	c.249G>T	CCDS32899.1																																																																																				0.502	OR7G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384611.1			12	701	1	0	6.40141e-05	6.40141e-05	0.00496729	12	701				
UBBP4	23666	broad.mit.edu	37	17	21731144	21731144	+	Missense_Mutation	SNP	T	T	G	rs375625296		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr17:21731144T>G	ENST00000578713.1	+	1	450	c.446T>G	c.(445-447)cTg>cGg	p.L149R	UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584755.1_Missense_Mutation_p.L149R					ubiquitin B pseudogene 4									p.L149R(18)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCTGAGAGGTGGT	0.542																																						ENST00000584755.1																			18	Substitution - Missense(18)	p.L149R(18)	endometrium(12)|prostate(6)	endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(445-447)cTg>cGg																																						SO:0001583	missense	0							g.chr17:21731144T>G	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.446T>G	17.37:g.21731144T>G	ENSP00000464265:p.Leu149Arg					UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R|UBBP4_ENST00000583708.1_3'UTR	p.L149R							2	843	+									Missense_Mutation	SNP	ENST00000578713.1	37	c.446T>G																																																																																					0.542	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444589.2			8	372	0	0	0	0.000157383	0	8	372				
MBOAT2	129642	broad.mit.edu	37	2	9004330	9004330	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:9004330C>A	ENST00000305997.3	-	10	1220	c.1022G>T	c.(1021-1023)tGg>tTg	p.W341L	MBOAT2_ENST00000486484.1_5'UTR	NM_138799.2	NP_620154.2	Q6ZWT7	MBOA2_HUMAN	membrane bound O-acyltransferase domain containing 2	341					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)	p.W341L(1)	MBOAT2/PRKCE(2)	endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1)	15	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CTGAATATTCCAATTATCAAG	0.328																																					Ovarian(194;1699 3813 22401)	ENST00000305997.3																		MBOAT2/PRKCE(2)	1	Substitution - Missense(1)	p.W341L(1)	lung(1)	endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1)	15						c.(1021-1023)tGg>tTg		membrane bound O-acyltransferase domain containing 2							93.0	92.0	92.0					2																	9004330		2203	4300	6503	SO:0001583	missense	129642				phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	g.chr2:9004330C>A	BC016005	CCDS1660.1	2p25	2008-02-05	2006-06-29	2006-06-29	ENSG00000143797	ENSG00000143797			25193	protein-coding gene	gene with protein product		611949	"""O-acyltransferase (membrane bound) domain containing 2"""	OACT2			Standard	NM_138799		Approved	FLJ14415, FLJ90298	uc002qzg.1	Q6ZWT7	OTTHUMG00000090363	ENST00000305997.3:c.1022G>T	2.37:g.9004330C>A	ENSP00000302177:p.Trp341Leu					MBOAT2_ENST00000486484.1_5'UTR	p.W341L	NM_138799.2	NP_620154.2	Q6ZWT7	MBOA2_HUMAN			10	1220	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		341					A9EDR2|Q8NCE7|Q96KY4	Missense_Mutation	SNP	ENST00000305997.3	37	c.1022G>T	CCDS1660.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.939284	0.92526	.	.	ENSG00000143797	ENST00000305997	D	0.89681	-2.55	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	D	0.96140	0.8742	M	0.93507	3.425	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.77557	0.984;0.99	D	0.96980	0.9714	10	0.87932	D	0	-8.5929	19.1781	0.93611	0.0:1.0:0.0:0.0	.	341;341	B7Z3I3;Q6ZWT7	.;MBOA2_HUMAN	L	341	ENSP00000302177:W341L	ENSP00000302177:W341L	W	-	2	0	MBOAT2	8921781	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.270000	0.78493	2.532000	0.85374	0.561000	0.74099	TGG		0.328	MBOAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206735.1	NM_138799		10	604	1	0	9.31168e-06	0.000151284	0.00101158	10	604				
EPSTI1	94240	broad.mit.edu	37	13	43491691	43491691	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr13:43491691C>A	ENST00000398762.3	-	9	759	c.760G>T	c.(760-762)Gaa>Taa	p.E254*	EPSTI1_ENST00000476830.2_5'Flank|EPSTI1_ENST00000313640.7_Nonsense_Mutation_p.E254*|EPSTI1_ENST00000313624.7_Nonsense_Mutation_p.E243*			Q96J88	ESIP1_HUMAN	epithelial stromal interaction 1 (breast)	254										endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1)	17		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)		TGATGTTGTTCATCCTTCATC	0.328																																						ENST00000313640.7																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1)	17						c.(760-762)Gaa>Taa		epithelial stromal interaction 1 (breast)							313.0	297.0	303.0					13																	43491691		2203	4300	6503	SO:0001587	stop_gained	94240							g.chr13:43491691C>A	AF396928	CCDS9387.1, CCDS31964.1	13q13.3	2011-06-27			ENSG00000133106	ENSG00000133106			16465	protein-coding gene	gene with protein product	"""epithelial stromal interaction protein 1"""	607441				11991720	Standard	NM_033255		Approved	BRESI1, MGC29634	uc001uyw.2	Q96J88	OTTHUMG00000016814	ENST00000398762.3:c.760G>T	13.37:g.43491691C>A	ENSP00000381746:p.Glu254*					EPSTI1_ENST00000398762.3_Nonsense_Mutation_p.E254*|EPSTI1_ENST00000313624.7_Nonsense_Mutation_p.E243*	p.E254*	NM_001002264.2	NP_001002264.1	Q96J88	ESIP1_HUMAN		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)	9	824	-		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	254					Q8IVC7|Q8NDQ7	Nonsense_Mutation	SNP	ENST00000398762.3	37	c.760G>T	CCDS9387.1	.	.	.	.	.	.	.	.	.	.	C	35	5.440564	0.96168	.	.	ENSG00000133106	ENST00000313640;ENST00000313624;ENST00000398762	.	.	.	4.85	4.85	0.62838	.	0.092687	0.46758	D	0.000266	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-10.3109	15.1843	0.72986	0.0:1.0:0.0:0.0	.	.	.	.	X	254;243;254	.	ENSP00000318643:E243X	E	-	1	0	EPSTI1	42389691	0.950000	0.32346	0.202000	0.23494	0.338000	0.28826	1.745000	0.38278	2.674000	0.91012	0.655000	0.94253	GAA		0.328	EPSTI1-010	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400321.1	NM_001002264		16	1559	1	0	6.40141e-05	6.40141e-05	0.00496729	16	1559				
CHAMP1	283489	broad.mit.edu	37	13	115091082	115091082	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr13:115091082G>T	ENST00000361283.1	+	3	2074	c.1765G>T	c.(1765-1767)Gat>Tat	p.D589Y		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	CHAP1_HUMAN	chromosome alignment maintaining phosphoprotein 1	589	Mediates localization to the spindle and the kinetochore and is required for the attachment of spindle microtubules to the kinetochore.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|protein localization to kinetochore (GO:0034501)|protein localization to microtubule (GO:0035372)|sister chromatid biorientation (GO:0031134)	condensed chromosome (GO:0000793)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)										TGCCATAGATGATCAAAAATG	0.388																																						ENST00000361283.1																			0											c.(1765-1767)Gat>Tat		chromosome alignment maintaining phosphoprotein 1							195.0	216.0	209.0					13																	115091082		2203	4300	6503	SO:0001583	missense	283489				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding	g.chr13:115091082G>T	AK074894	CCDS9545.1	13q34	2013-01-07	2011-10-07	2011-10-07	ENSG00000198824	ENSG00000198824		"""Zinc fingers, C2H2-type"""	20311	protein-coding gene	gene with protein product	"""chromosome alignment-maintaining phosphoprotein"""		"""chromosome 13 open reading frame 8"", ""zinc finger protein 828"""	C13orf8, ZNF828		21063390	Standard	NM_032436		Approved	CAMP, CHAMP	uc010ahb.3	Q96JM3	OTTHUMG00000017404	ENST00000361283.1:c.1765G>T	13.37:g.115091082G>T	ENSP00000354730:p.Asp589Tyr						p.D589Y	NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	ZN828_HUMAN			3	2074	+			589			Mediates localization to the spindle and the kinetochore and is required for the attachment of spindle microtubules to the kinetochore.		B3KU06|Q6P181|Q8NC88|Q9BST0	Missense_Mutation	SNP	ENST00000361283.1	37	c.1765G>T	CCDS9545.1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.774288	0.49786	.	.	ENSG00000198824	ENST00000361283	T	0.01572	4.76	5.6	4.74	0.60224	.	0.099413	0.43579	D	0.000555	T	0.04907	0.0132	L	0.50333	1.59	0.33710	D	0.615609	P	0.50710	0.938	P	0.54100	0.742	T	0.39121	-0.9629	9	.	.	.	-2.8332	13.2568	0.60083	0.0748:0.0:0.9252:0.0	.	589	Q96JM3	ZN828_HUMAN	Y	589	ENSP00000354730:D589Y	.	D	+	1	0	ZNF828	114109184	1.000000	0.71417	0.613000	0.29037	0.955000	0.61496	4.221000	0.58574	1.331000	0.45412	0.655000	0.94253	GAT		0.388	CHAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045977.2	NM_032436		20	1814	1	0	6.40141e-05	6.40141e-05	0.00496729	20	1814				
ANO3	63982	broad.mit.edu	37	11	26556101	26556101	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr11:26556101C>A	ENST00000256737.3	+	9	1820	c.968C>A	c.(967-969)tCa>tAa	p.S323*	ANO3_ENST00000537978.1_Nonsense_Mutation_p.S307*|ANO3_ENST00000525139.1_Nonsense_Mutation_p.S307*|ANO3_ENST00000531568.1_Nonsense_Mutation_p.S177*	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	323					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						AATGGAATATCAAAAGTGGGT	0.318																																						ENST00000256737.3																			0				breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(967-969)tCa>tAa		anoctamin 3							78.0	78.0	78.0					11																	26556101		2203	4299	6502	SO:0001587	stop_gained	63982					chloride channel complex	chloride channel activity	g.chr11:26556101C>A	AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	14004	protein-coding gene	gene with protein product	"""transmembrane protein 16C (eight membrane-spanning domains)"""	610110	"""chromosome 11 open reading frame 25"", ""transmembrane protein 16C"""	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.968C>A	11.37:g.26556101C>A	ENSP00000256737:p.Ser323*					ANO3_ENST00000525139.1_Nonsense_Mutation_p.S307*|ANO3_ENST00000531568.1_Nonsense_Mutation_p.S177*|ANO3_ENST00000537978.1_Nonsense_Mutation_p.S307*	p.S323*	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN			9	1820	+			323					B7Z3F5	Nonsense_Mutation	SNP	ENST00000256737.3	37	c.968C>A	CCDS31447.1	.	.	.	.	.	.	.	.	.	.	C	39	7.882011	0.98542	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000538001;ENST00000531568	.	.	.	5.03	5.03	0.67393	.	0.390504	0.26959	N	0.021623	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	.	17.9596	0.89081	0.0:1.0:0.0:0.0	.	.	.	.	X	307;307;323;225;177	.	ENSP00000256737:S323X	S	+	2	0	ANO3	26512677	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.640000	0.61368	2.349000	0.79799	0.460000	0.39030	TCA		0.318	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418		10	506	1	0	3.86212e-05	3.86212e-05	0.00332401	10	506				
TIFA	92610	broad.mit.edu	37	4	113199421	113199421	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr4:113199421C>A	ENST00000361717.3	-	2	433	c.152G>T	c.(151-153)cGa>cTa	p.R51L	TIFA_ENST00000500655.2_Missense_Mutation_p.R51L	NM_052864.2	NP_443096.1	Q96CG3	TIFA_HUMAN	TRAF-interacting protein with forkhead-associated domain	51	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.				I-kappaB kinase/NF-kappaB signaling (GO:0007249)					breast(2)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)	6		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00172)		GTTGGAATTTCGGCCAAATTT	0.413																																						ENST00000361717.2																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)	6						c.(151-153)cGa>cTa		TRAF-interacting protein with forkhead-associated domain							80.0	91.0	88.0					4																	113199421		2199	4295	6494	SO:0001583	missense	92610						protein binding	g.chr4:113199421C>A	BC008294	CCDS34051.1	4q25	2008-03-17				ENSG00000145365			19075	protein-coding gene	gene with protein product	"""TRAF2 binding protein"", ""TRAF6 binding protein"""	609028				1179819	Standard	NM_052864		Approved	MGC20791, T2BP, T6BP, TIFAA	uc003ial.3	Q96CG3		ENST00000361717.3:c.152G>T	4.37:g.113199421C>A	ENSP00000354911:p.Arg51Leu					TIFA_ENST00000500655.2_Missense_Mutation_p.R51L	p.R51L	NM_052864.2	NP_443096.1	Q96CG3	TIFA_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00172)	2	433	-		Ovarian(17;0.0443)|Hepatocellular(203;0.217)	51			FHA.			Missense_Mutation	SNP	ENST00000361717.3	37	c.152G>T	CCDS34051.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.038362	0.93630	.	.	ENSG00000145365	ENST00000361717;ENST00000438746;ENST00000500655	T;T	0.74106	-0.81;-0.81	5.92	5.92	0.95590	Forkhead-associated (FHA) domain (4);	0.000000	0.85682	D	0.000000	D	0.87083	0.6089	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87214	0.2249	10	0.87932	D	0	-16.928	20.3343	0.98733	0.0:1.0:0.0:0.0	.	51	Q96CG3	TIFA_HUMAN	L	51	ENSP00000354911:R51L;ENSP00000424231:R51L	ENSP00000354911:R51L	R	-	2	0	TIFA	113418870	0.999000	0.42202	0.960000	0.40013	0.980000	0.70556	4.514000	0.60482	2.822000	0.97130	0.650000	0.86243	CGA		0.413	TIFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363647.2	NM_052864		14	887	1	0	2.31682e-05	2.31682e-05	0.00220351	14	887				
YJEFN3	374887	broad.mit.edu	37	19	19645890	19645890	+	Silent	SNP	C	C	A	rs572316855		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:19645890C>A	ENST00000514277.4	+	4	404	c.366C>A	c.(364-366)gtC>gtA	p.V122V	CTC-260F20.3_ENST00000555938.1_Silent_p.V121V|YJEFN3_ENST00000436027.5_Silent_p.V72V|YJEFN3_ENST00000608404.1_Silent_p.V121V	NM_198537.3	NP_940939.2	A6XGL0	YJEN3_HUMAN	YjeF N-terminal domain containing 3	122	YjeF N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00719}.									NS(1)|breast(1)|lung(3)	5						CGGTGCTGGTCGTGTGTGGCC	0.642																																						ENST00000555938.1																			0											c.(361-363)gtC>gtA									87.0	106.0	99.0					19																	19645890		2122	4229	6351	SO:0001819	synonymous_variant	0							g.chr19:19645890C>A		CCDS42530.1, CCDS54236.1	19p13.11	2014-09-11			ENSG00000250067	ENSG00000250067			24785	protein-coding gene	gene with protein product						17533573	Standard	NM_198537		Approved	hYjeF_N3-19p13.11, FLJ44968	uc002nmt.2	A6XGL0	OTTHUMG00000162251	ENST00000514277.4:c.366C>A	19.37:g.19645890C>A						YJEFN3_ENST00000436027.4_Silent_p.V72V|YJEFN3_ENST00000514277.3_Silent_p.V122V	p.V121V							5	375	+								A6XGK9|Q4G1C0	Silent	SNP	ENST00000514277.4	37	c.363C>A	CCDS42530.1																																																																																				0.642	YJEFN3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368157.5	NM_198537		10	800	1	0	0.00010058	0.00010058	0.0072096	10	800				
IRX2	153572	broad.mit.edu	37	5	2749639	2749639	+	Missense_Mutation	SNP	C	C	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr5:2749639C>T	ENST00000382611.6	-	2	760	c.512G>A	c.(511-513)cGc>cAc	p.R171H	C5orf38_ENST00000515640.1_5'Flank|C5orf38_ENST00000457752.2_5'Flank|C5orf38_ENST00000334000.3_5'Flank|C5orf38_ENST00000397835.4_5'Flank|IRX2_ENST00000502957.1_5'UTR|C5orf38_ENST00000505778.1_5'Flank|IRX2_ENST00000302057.5_Missense_Mutation_p.R171H	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	171					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		CTTCTTGAGGCGCCGGCGCGC	0.592																																						ENST00000382611.6																			0				breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26						c.(511-513)cGc>cAc		iroquois homeobox 2							136.0	128.0	131.0					5																	2749639		2203	4300	6503	SO:0001583	missense	153572					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:2749639C>T	AF319967	CCDS3868.1	5p15.33	2011-06-20	2007-07-13		ENSG00000170561	ENSG00000170561		"""Homeoboxes / TALE class"""	14359	protein-coding gene	gene with protein product		606198				11435706	Standard	NM_033267		Approved		uc003jdb.3	Q9BZI1	OTTHUMG00000090377	ENST00000382611.6:c.512G>A	5.37:g.2749639C>T	ENSP00000372056:p.Arg171His					IRX2_ENST00000302057.5_Missense_Mutation_p.R171H|IRX2_ENST00000502957.1_5'UTR	p.R171H	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN		GBM - Glioblastoma multiforme(108;0.204)	2	760	-			171					Q68A19|Q7Z2I7	Missense_Mutation	SNP	ENST00000382611.6	37	c.512G>A	CCDS3868.1	.	.	.	.	.	.	.	.	.	.	C	35	5.448586	0.96205	.	.	ENSG00000170561	ENST00000382611;ENST00000302057;ENST00000502957	D;D;D	0.98617	-5.03;-5.03;-5.03	4.85	4.85	0.62838	Homeodomain-related (1);Homeobox (2);Homeobox KN domain (1);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99471	0.9812	H	0.96996	3.92	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98132	1.0431	10	0.87932	D	0	-23.159	17.9697	0.89110	0.0:1.0:0.0:0.0	.	171	Q9BZI1	IRX2_HUMAN	H	171;171;78	ENSP00000372056:R171H;ENSP00000307006:R171H;ENSP00000426151:R78H	ENSP00000307006:R171H	R	-	2	0	IRX2	2802639	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.460000	0.80816	2.239000	0.73571	0.655000	0.94253	CGC		0.592	IRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206749.2			9	497	0	0	0	2.17888e-05	0	9	497				
KCNK2	3776	broad.mit.edu	37	1	215408472	215408472	+	Missense_Mutation	SNP	T	T	C			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:215408472T>C	ENST00000444842.2	+	7	1415	c.1265T>C	c.(1264-1266)aTt>aCt	p.I422T	KCNK2_ENST00000391895.2_Missense_Mutation_p.I418T|KCNK2_ENST00000391894.2_Missense_Mutation_p.I407T	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	422	Essential for chloroform and halothane sensitivity. {ECO:0000250}.|Required for basal channel activity. {ECO:0000250}.				G-protein coupled receptor signaling pathway (GO:0007186)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|potassium ion leak channel activity (GO:0022841)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)|Dronedarone(DB04855)	ATTGCTGTGATTGAGAACATC	0.438																																						ENST00000444842.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30						c.(1264-1266)aTt>aCt		potassium channel, subfamily K, member 2	Dofetilide(DB00204)						142.0	138.0	140.0					1																	215408472		2203	4299	6502	SO:0001583	missense	3776						outward rectifier potassium channel activity	g.chr1:215408472T>C	AF004711	CCDS31024.1, CCDS41466.1, CCDS41467.1	1q41	2012-03-07			ENSG00000082482	ENSG00000082482		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6277	protein-coding gene	gene with protein product		603219				9721223, 16382106	Standard	NM_001017424		Approved	K2p2.1, TREK-1	uc001hkr.4	O95069	OTTHUMG00000037017	ENST00000444842.2:c.1265T>C	1.37:g.215408472T>C	ENSP00000394033:p.Ile422Thr					KCNK2_ENST00000391894.2_Missense_Mutation_p.I407T|KCNK2_ENST00000391895.2_Missense_Mutation_p.I418T	p.I422T	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	7	1415	+			422			Essential for chloroform and halothane sensitivity (By similarity).|Required for basal channel activity (By similarity).		A1Z1V3|A8K618|B2RCS4|B7ZL56|D3DTA5|Q5DP47|Q5DP48|Q9NRT2|Q9UNE3	Missense_Mutation	SNP	ENST00000444842.2	37	c.1265T>C	CCDS41467.1	.	.	.	.	.	.	.	.	.	.	T	16.60	3.167433	0.57476	.	.	ENSG00000082482	ENST00000391895;ENST00000391894;ENST00000444842	T;T;T	0.26518	1.73;1.76;1.73	5.63	5.63	0.86233	.	0.385177	0.29565	N	0.011799	T	0.21347	0.0514	L	0.27053	0.805	0.58432	D	0.999999	P;P;P	0.40731	0.728;0.608;0.728	B;B;B	0.37888	0.26;0.133;0.26	T	0.03157	-1.1066	10	0.87932	D	0	.	15.8309	0.78749	0.0:0.0:0.0:1.0	.	407;422;418	O95069-2;O95069;O95069-3	.;KCNK2_HUMAN;.	T	418;407;422	ENSP00000375765:I418T;ENSP00000375764:I407T;ENSP00000394033:I422T	ENSP00000375764:I407T	I	+	2	0	KCNK2	213475095	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	7.502000	0.81614	2.149000	0.67028	0.402000	0.26972	ATT		0.438	KCNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089856.2	NM_014217		7	545	0	0	0	1.12685e-05	0	7	545				
CEP135	9662	broad.mit.edu	37	4	56890672	56890672	+	Missense_Mutation	SNP	G	G	T	rs368917402		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr4:56890672G>T	ENST00000257287.4	+	25	3450	c.3326G>T	c.(3325-3327)cGa>cTa	p.R1109L		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	1109					centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)	protein C-terminus binding (GO:0008022)	p.R1109L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					AACAGAGAACGAGCAATCCAA	0.378																																						ENST00000257287.4																			1	Substitution - Missense(1)	p.R1109L(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50						c.(3325-3327)cGa>cTa		centrosomal protein 135kDa							198.0	186.0	190.0					4																	56890672		2203	4300	6503	SO:0001583	missense	9662				centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding	g.chr4:56890672G>T	AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799			29086	protein-coding gene	gene with protein product		611423	"""KIAA0635"", ""centrosomal protein 4"""	KIAA0635, CEP4		9734811, 14654843	Standard	NM_025009		Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.3326G>T	4.37:g.56890672G>T	ENSP00000257287:p.Arg1109Leu						p.R1109L	NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN			25	3450	+	Glioma(25;0.08)|all_neural(26;0.101)		1109					B2RMY0|O75130|Q58F25|Q9H8H7	Missense_Mutation	SNP	ENST00000257287.4	37	c.3326G>T	CCDS33986.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.294174	0.81025	.	.	ENSG00000174799	ENST00000257287	T	0.15952	2.38	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.47820	0.1466	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.46884	-0.9159	10	0.62326	D	0.03	.	19.7006	0.96050	0.0:0.0:1.0:0.0	.	1109	Q66GS9	CP135_HUMAN	L	1109	ENSP00000257287:R1109L	ENSP00000257287:R1109L	R	+	2	0	CEP135	56585429	1.000000	0.71417	1.000000	0.80357	0.748000	0.42578	7.130000	0.77235	2.664000	0.90586	0.650000	0.86243	CGA		0.378	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362092.2	NM_025009		11	1268	1	0	0.000157383	0.000157383	0.00973904	11	1268				
DCDC2	51473	broad.mit.edu	37	6	24205358	24205358	+	Intron	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr6:24205358C>A	ENST00000378454.3	-	8	1224				DCDC2_ENST00000378450.3_Missense_Mutation_p.D52Y	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2						cellular defense response (GO:0006968)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|neuron migration (GO:0001764)|visual learning (GO:0008542)					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				CAGTGAAAATCAAAATCCAAT	0.378																																						ENST00000378450.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(154-156)Gat>Tat		doublecortin domain containing 2							124.0	121.0	122.0					6																	24205358		2203	4299	6502	SO:0001627	intron_variant	51473				cellular defense response|intracellular signal transduction|neuron migration			g.chr6:24205358C>A	AB032980	CCDS4550.1	6p22.1	2008-02-05			ENSG00000146038	ENSG00000146038			18141	protein-coding gene	gene with protein product		605755				10601354, 10574461	Standard	NM_001195610		Approved	RU2, KIAA1154, DCDC2A	uc003ndx.3	Q9UHG0	OTTHUMG00000016275	ENST00000378454.3:c.923-28G>T	6.37:g.24205358C>A						DCDC2_ENST00000378454.3_Intron	p.D52Y			Q9UHG0	DCDC2_HUMAN			1	173	-		Ovarian(999;0.101)	0			Doublecortin 1.		Q5VTR8|Q5VTR9|Q86W35|Q9UFD1|Q9UHG1|Q9ULR6	Missense_Mutation	SNP	ENST00000378454.3	37	c.154G>T	CCDS4550.1	.	.	.	.	.	.	.	.	.	.	C	12.08	1.830278	0.32329	.	.	ENSG00000146038	ENST00000378450	T	0.50813	0.73	6.07	0.246	0.15516	.	.	.	.	.	T	0.10035	0.0246	.	.	.	0.09310	N	1	B	0.17667	0.023	B	0.16289	0.015	T	0.33033	-0.9884	7	.	.	.	.	4.5225	0.11966	0.4248:0.3732:0.0962:0.1058	.	52	Q9UHG0-2	.	Y	52	ENSP00000367711:D52Y	.	D	-	1	0	DCDC2	24313337	0.305000	0.24481	0.640000	0.29408	0.917000	0.54804	-0.294000	0.08309	0.091000	0.17302	0.655000	0.94253	GAT		0.378	DCDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043604.1	NM_016356		9	450	1	0	3.86212e-05	3.86212e-05	0.00332401	9	450				
CCDC127	133957	broad.mit.edu	37	5	205888	205888	+	Nonsense_Mutation	SNP	G	G	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr5:205888G>A	ENST00000296824.3	-	3	439	c.307C>T	c.(307-309)Cga>Tga	p.R103*		NM_145265.2	NP_660308.1	Q96BQ5	CC127_HUMAN	coiled-coil domain containing 127	103										breast(1)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12			all cancers(22;0.0236)|Lung(60;0.113)			AGGGCTTCTCGGTAACTAGCA	0.498																																						ENST00000296824.3																			0				breast(1)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						c.(307-309)Cga>Tga		coiled-coil domain containing 127							101.0	101.0	101.0					5																	205888		2203	4300	6503	SO:0001587	stop_gained	133957							g.chr5:205888G>A	AK098567	CCDS3852.1	5p15.33	2008-02-05			ENSG00000164366	ENSG00000164366			30520	protein-coding gene	gene with protein product						12477932	Standard	NM_145265		Approved	FLJ25701	uc003jam.1	Q96BQ5	OTTHUMG00000161586	ENST00000296824.3:c.307C>T	5.37:g.205888G>A	ENSP00000296824:p.Arg103*						p.R103*	NM_145265.2	NP_660308.1	Q96BQ5	CC127_HUMAN	all cancers(22;0.0236)|Lung(60;0.113)		3	439	-			103						Nonsense_Mutation	SNP	ENST00000296824.3	37	c.307C>T	CCDS3852.1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.629715	0.46944	.	.	ENSG00000164366	ENST00000296824	.	.	.	5.77	4.91	0.64330	.	0.120792	0.56097	D	0.000029	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.6082	14.1903	0.65635	0.0:0.0:0.8491:0.1509	.	.	.	.	X	103	.	ENSP00000296824:R103X	R	-	1	2	CCDC127	258888	1.000000	0.71417	0.944000	0.38274	0.475000	0.33008	2.365000	0.44196	1.457000	0.47850	-0.218000	0.12543	CGA		0.498	CCDC127-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365459.2	NM_145265		9	569	0	0	0	2.17888e-05	0	9	569				
CCPG1	9236	broad.mit.edu	37	15	55652145	55652145	+	Nonsense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr15:55652145G>T	ENST00000310958.6	-	8	2124	c.1826C>A	c.(1825-1827)tCa>tAa	p.S609*	CCPG1_ENST00000425574.3_Intron|DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000442196.3_Nonsense_Mutation_p.S609*|CCPG1_ENST00000569205.1_Nonsense_Mutation_p.S609*	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	609					cell cycle (GO:0007049)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001106)	integral component of membrane (GO:0016021)				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		GCATTTCTTTGAATTTGTATT	0.373																																						ENST00000310958.6																			0				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30						c.(1825-1827)tCa>tAa		cell cycle progression 1							81.0	79.0	79.0					15																	55652145		1799	4059	5858	SO:0001587	stop_gained	9236				cell cycle	integral to membrane		g.chr15:55652145G>T	AF212228	CCDS42039.1, CCDS55966.1, CCDS55967.1	15q21.1	2011-04-20				ENSG00000260916			24227	protein-coding gene	gene with protein product		611326				9383053, 10574462	Standard	NM_004748		Approved	KIAA1254, CPR8	uc010bfk.2	Q9ULG6		ENST00000310958.6:c.1826C>A	15.37:g.55652145G>T	ENSP00000311656:p.Ser609*					CCPG1_ENST00000425574.3_Intron|CCPG1_ENST00000442196.3_Nonsense_Mutation_p.S609*|CCPG1_ENST00000569205.1_Nonsense_Mutation_p.S609*|DYX1C1-CCPG1_ENST00000565113.1_RNA	p.S609*	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN		all cancers(107;0.0354)	8	2124	-			609					A0PJH3|A8K9T0|O14712|Q05DG4|Q5U5S7|Q8IYV8|Q9BY53|Q9HA17	Nonsense_Mutation	SNP	ENST00000310958.6	37	c.1826C>A	CCDS42039.1	.	.	.	.	.	.	.	.	.	.	G	9.715	1.158088	0.21454	.	.	ENSG00000256061	ENST00000310958;ENST00000442196	.	.	.	5.62	4.7	0.59300	.	0.270366	0.30320	N	0.009898	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.7122	0.51630	0.0808:0.0:0.9192:0.0	.	.	.	.	X	609	.	ENSP00000311656:S609X	S	-	2	0	DYX1C1	53439437	0.186000	0.23225	0.002000	0.10522	0.061000	0.15899	3.051000	0.49885	1.393000	0.46605	0.655000	0.94253	TCA		0.373	CCPG1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419850.1	NM_004748		17	588	1	0	5.01169e-05	5.01169e-05	0.00428325	17	588				
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		6	396	0	0	0	8.12818e-05	0	6	396				
KIAA1841	84542	broad.mit.edu	37	2	61319641	61319641	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:61319641C>A	ENST00000402291.1	+	11	1372	c.1131C>A	c.(1129-1131)ttC>ttA	p.F377L	KIAA1841_ENST00000356719.2_Missense_Mutation_p.F377L|KIAA1841_ENST00000295031.5_Missense_Mutation_p.F377L|KIAA1841_ENST00000453873.1_Missense_Mutation_p.F377L	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	377										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			ATAGTCTTTTCGAAGAATTAA	0.313																																						ENST00000402291.1																			0				breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25						c.(1129-1131)ttC>ttA		KIAA1841							87.0	94.0	92.0					2																	61319641		2203	4300	6503	SO:0001583	missense	84542							g.chr2:61319641C>A	BC070104	CCDS1867.1, CCDS46296.1	2p15	2010-06-22			ENSG00000162929	ENSG00000162929			29387	protein-coding gene	gene with protein product						11347906	Standard	NM_032506		Approved		uc002saw.4	Q6NSI8	OTTHUMG00000129421	ENST00000402291.1:c.1131C>A	2.37:g.61319641C>A	ENSP00000385579:p.Phe377Leu					KIAA1841_ENST00000453873.1_Missense_Mutation_p.F377L|KIAA1841_ENST00000356719.2_Missense_Mutation_p.F377L|KIAA1841_ENST00000295031.5_Missense_Mutation_p.F377L	p.F377L	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	Epithelial(17;0.193)		11	1372	+			377					Q49AF0|Q6ZND0|Q96JI6	Missense_Mutation	SNP	ENST00000402291.1	37	c.1131C>A	CCDS46296.1	.	.	.	.	.	.	.	.	.	.	C	12.59	1.983612	0.35036	.	.	ENSG00000162929	ENST00000402291;ENST00000295031;ENST00000356719;ENST00000453873	.	.	.	5.57	3.21	0.36854	.	0.205027	0.44483	D	0.000455	T	0.42988	0.1227	L	0.46157	1.445	0.41078	D	0.9855	P;P	0.39535	0.677;0.585	B;B	0.39419	0.198;0.299	T	0.14559	-1.0468	9	0.19147	T	0.46	-15.8163	10.1076	0.42544	0.0:0.2114:0.0:0.7886	.	377;377	Q6NSI8-2;Q6NSI8	.;K1841_HUMAN	L	377	.	ENSP00000295031:F377L	F	+	3	2	KIAA1841	61173145	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.061000	0.30542	0.405000	0.25532	-1.224000	0.01588	TTC		0.313	KIAA1841-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325477.1	NM_032506		8	636	1	0	6.40141e-05	6.40141e-05	0.00496729	8	636				
PGR	5241	broad.mit.edu	37	11	100922228	100922228	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr11:100922228C>A	ENST00000325455.5	-	5	3737	c.2284G>T	c.(2284-2286)Ggt>Tgt	p.G762C	PGR_ENST00000534013.1_Missense_Mutation_p.G168C|PGR_ENST00000263463.5_Missense_Mutation_p.G660C	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	762	Steroid-binding.				cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|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)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	CATCCTAGACCAAACACCATT	0.348																																					Pancreas(124;2271 2354 21954 22882)	ENST00000325455.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36						c.(2284-2286)Ggt>Tgt		progesterone receptor	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)						119.0	117.0	118.0					11																	100922228		2203	4300	6503	SO:0001583	missense	5241				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr11:100922228C>A	M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"""Nuclear hormone receptors"""	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.2284G>T	11.37:g.100922228C>A	ENSP00000325120:p.Gly762Cys					PGR_ENST00000263463.5_Missense_Mutation_p.G660C|PGR_ENST00000534013.1_Missense_Mutation_p.G168C	p.G762C	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	P06401	PRGR_HUMAN		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	5	3737	-		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)	762			Steroid-binding.		A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Missense_Mutation	SNP	ENST00000325455.5	37	c.2284G>T	CCDS8310.1	.	.	.	.	.	.	.	.	.	.	C	18.40	3.616469	0.66672	.	.	ENSG00000082175	ENST00000325455;ENST00000534013;ENST00000263463;ENST00000537623	D;D;D	0.96619	-4.07;-4.07;-4.07	5.24	5.24	0.73138	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.119765	0.56097	D	0.000031	D	0.98052	0.9358	M	0.77406	2.37	0.27257	N	0.95872	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.85130	0.99;0.997;0.969	D	0.94318	0.7551	10	0.66056	D	0.02	.	18.8379	0.92169	0.0:1.0:0.0:0.0	.	660;762;143	Q8TDS3;P06401;A7LQ08	.;PRGR_HUMAN;.	C	762;168;660;660	ENSP00000325120:G762C;ENSP00000436561:G168C;ENSP00000263463:G660C	ENSP00000263463:G660C	G	-	1	0	PGR	100427438	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	4.049000	0.57397	2.435000	0.82474	0.650000	0.86243	GGT		0.348	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394934.1			8	859	1	0	3.86212e-05	3.86212e-05	0.00332401	8	859				
CDH4	1002	broad.mit.edu	37	20	60511971	60511971	+	Silent	SNP	G	G	A	rs374087046		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr20:60511971G>A	ENST00000360469.5	+	16	2809	c.2721G>A	c.(2719-2721)gcG>gcA	p.A907A	CDH4_ENST00000543233.1_Silent_p.A833A	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	907					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			AGAAGCTGGCGGACATGTATG	0.602																																						ENST00000360469.5																			0				NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74						c.(2719-2721)gcG>gcA		cadherin 4, type 1, R-cadherin (retinal)		G		0,4406		0,0,2203	79.0	57.0	64.0		2721	-1.1	1.0	20		64	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CDH4	NM_001794.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		907/917	60511971	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1002				adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60511971G>A	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.2721G>A	20.37:g.60511971G>A						CDH4_ENST00000543233.1_Silent_p.A833A	p.A907A	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		16	2809	+			907					B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Silent	SNP	ENST00000360469.5	37	c.2721G>A	CCDS13488.1																																																																																				0.602	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		10	245	0	0	0	2.17888e-05	0	10	245				
ATP12A	479	broad.mit.edu	37	13	25264491	25264491	+	Silent	SNP	C	C	A	rs368648921		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr13:25264491C>A	ENST00000381946.3	+	6	729	c.562C>A	c.(562-564)Cga>Aga	p.R188R	ATP12A_ENST00000218548.6_Silent_p.R188R			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	188					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		TCTCGTCATCCGAGATTCCGA	0.577																																					Pancreas(156;1582 1935 18898 22665 26498)	ENST00000218548.6																			0				breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74						c.(562-564)Cga>Aga		ATPase, H+/K+ transporting, nongastric, alpha polypeptide	Esomeprazole(DB00736)|Pantoprazole(DB00213)						132.0	127.0	129.0					13																	25264491		2203	4300	6503	SO:0001819	synonymous_variant	479				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	g.chr13:25264491C>A	L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.562C>A	13.37:g.25264491C>A						ATP12A_ENST00000381946.3_Silent_p.R188R	p.R188R	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	6	895	+		Lung SC(185;0.0225)|Breast(139;0.077)	188					Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Silent	SNP	ENST00000381946.3	37	c.562C>A	CCDS31948.1																																																																																				0.577	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676		7	777	1	0	0.000157383	0.000157383	0.00973904	7	777				
ATR	545	broad.mit.edu	37	3	142231128	142231128	+	Nonsense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:142231128G>T	ENST00000350721.4	-	27	4947	c.4826C>A	c.(4825-4827)tCa>tAa	p.S1609*	ATR_ENST00000383101.3_Nonsense_Mutation_p.S1545*	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	1609					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						ATTTCTGTTTGATTTGCTGTG	0.388								Other conserved DNA damage response genes																														ENST00000350721.4																			0				NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						c.(4825-4827)tCa>tAa	Other conserved DNA damage response genes	ataxia telangiectasia and Rad3 related							197.0	175.0	183.0					3																	142231128		2203	4300	6503	SO:0001587	stop_gained	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142231128G>T	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.4826C>A	3.37:g.142231128G>T	ENSP00000343741:p.Ser1609*					ATR_ENST00000383101.3_Nonsense_Mutation_p.S1545*	p.S1609*	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN			27	4947	-			1609					Q59HB2|Q7KYL3|Q93051|Q9BXK4	Nonsense_Mutation	SNP	ENST00000350721.4	37	c.4826C>A	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	G	42	9.738096	0.99252	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	.	.	.	4.78	4.78	0.61160	.	1.479250	0.04545	N	0.388847	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.2296	17.8468	0.88732	0.0:0.0:1.0:0.0	.	.	.	.	X	1609;1545	.	ENSP00000343741:S1609X	S	-	2	0	ATR	143713818	1.000000	0.71417	0.771000	0.31576	0.384000	0.30261	5.979000	0.70508	2.205000	0.71048	0.460000	0.39030	TCA		0.388	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		12	599	1	0	0.000151284	0.000151284	0.00973904	12	599				
POTEC	388468	broad.mit.edu	37	18	14542654	14542654	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr18:14542654C>A	ENST00000358970.5	-	1	491	c.492G>T	c.(490-492)acG>acT	p.T164T	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	164								p.T164T(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TGTTCATGTCCGTGTCCCTGA	0.592																																						ENST00000358970.5																			2	Substitution - coding silent(2)	p.T164T(2)	lung(1)|kidney(1)	NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(490-492)acG>acT		POTE ankyrin domain family, member C							260.0	241.0	247.0					18																	14542654		692	1591	2283	SO:0001819	synonymous_variant	388468							g.chr18:14542654C>A	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.492G>T	18.37:g.14542654C>A						POTEC_ENST00000389891.4_5'UTR	p.T164T	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			1	491	-			164						Silent	SNP	ENST00000358970.5	37	c.492G>T	CCDS45835.1																																																																																				0.592	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		6	623	1	0	6.40141e-05	6.40141e-05	0.00496729	6	623				
TPTE2P6	374491	broad.mit.edu	37	13	25168463	25168463	+	RNA	SNP	T	T	C	rs61946940	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr13:25168463T>C	ENST00000453498.1	+	0	1135				TPTE2P6_ENST00000440905.1_RNA																							TGACAGTCCATCTCTGTACGA	0.363																																						ENST00000453498.1																			0																																																			0							g.chr13:25168463T>C																													13.37:g.25168463T>C														0	1135	+									RNA	SNP	ENST00000453498.1	37																																																																																						0.363	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			5	273	0	0	0	6.40141e-05	0	5	273				
TMEM131	23505	broad.mit.edu	37	2	98422018	98422018	+	Nonsense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:98422018G>T	ENST00000186436.5	-	20	2432	c.2204C>A	c.(2203-2205)tCa>tAa	p.S735*		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	735						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TCAAACCTTTGATTTTTTTCC	0.358																																						ENST00000186436.5																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						c.(2203-2205)tCa>tAa		transmembrane protein 131							176.0	188.0	184.0					2																	98422018		1805	4073	5878	SO:0001587	stop_gained	23505					integral to membrane		g.chr2:98422018G>T	AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.2204C>A	2.37:g.98422018G>T	ENSP00000186436:p.Ser735*						p.S735*	NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN			20	2432	-			735						Nonsense_Mutation	SNP	ENST00000186436.5	37	c.2204C>A	CCDS46368.1	.	.	.	.	.	.	.	.	.	.	G	42	9.342510	0.99142	.	.	ENSG00000075568	ENST00000186436	.	.	.	6.07	6.07	0.98685	.	0.120296	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.5958	20.6593	0.99626	0.0:0.0:1.0:0.0	.	.	.	.	X	735	.	ENSP00000186436:S735X	S	-	2	0	TMEM131	97788450	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.476000	0.97823	2.885000	0.99019	0.655000	0.94253	TCA		0.358	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	XM_371542		28	980	1	0	2.90539e-05	2.90539e-05	0.00275258	28	980				
NFATC3	4775	broad.mit.edu	37	16	68208395	68208395	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr16:68208395C>A	ENST00000346183.3	+	6	1917	c.1893C>A	c.(1891-1893)atC>atA	p.I631I	NFATC3_ENST00000349223.5_Silent_p.I631I|NFATC3_ENST00000329524.4_Silent_p.I631I|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000575270.1_Silent_p.I631I	NM_173165.2	NP_775188.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	631					cellular respiration (GO:0045333)|cellular response to calcium ion (GO:0071277)|cellular response to lithium ion (GO:0071285)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|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)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		AATCCAAAATCATTTTTCTTG	0.318																																						ENST00000349223.5																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44						c.(1891-1893)atC>atA		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3							122.0	130.0	127.0					16																	68208395		2198	4300	6498	SO:0001819	synonymous_variant	4775				inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding	g.chr16:68208395C>A	L41067	CCDS10860.1, CCDS10861.1, CCDS10862.1	16q22	2009-11-24			ENSG00000072736	ENSG00000072736		"""Nuclear factor of activated T-cells"""	7777	protein-coding gene	gene with protein product		602698				7749981	Standard	NM_004555		Approved	NFAT4, NFATX	uc002evo.2	Q12968	OTTHUMG00000137555	ENST00000346183.3:c.1893C>A	16.37:g.68208395C>A						NFATC3_ENST00000329524.4_Silent_p.I631I|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000346183.3_Silent_p.I631I|NFATC3_ENST00000575270.1_Silent_p.I631I	p.I631I	NM_173163.2	NP_775186.1	Q12968	NFAC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)	6	2117	+		Ovarian(137;0.0563)	631					O75211|Q14516|Q99840|Q99841|Q99842	Silent	SNP	ENST00000346183.3	37	c.1893C>A	CCDS10860.1																																																																																				0.318	NFATC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268890.2	NM_004555		14	826	1	0	1.3612e-06	2.31682e-05	0.000177925	14	826				
ZNF649	65251	broad.mit.edu	37	19	52394652	52394652	+	Missense_Mutation	SNP	C	C	T	rs200081147		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:52394652C>T	ENST00000354957.3	-	5	1021	c.737G>A	c.(736-738)aGg>aAg	p.R246K	ZNF649_ENST00000600738.1_Splice_Site|CTC-429C10.2_ENST00000600329.1_RNA	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	246					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		GAGCCTGTACCTCTTGTAGAA	0.502																																						ENST00000354957.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29						c.(736-738)aGg>aAg		zinc finger protein 649							126.0	123.0	124.0					19																	52394652		2203	4300	6503	SO:0001583	missense	65251				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52394652C>T	BC005368	CCDS12843.1	19q13.41	2013-01-08				ENSG00000198093		"""Zinc fingers, C2H2-type"", ""-"""	25741	protein-coding gene	gene with protein product		611903				15950191	Standard	NM_023074		Approved	FLJ12644	uc002pxy.3	Q9BS31		ENST00000354957.3:c.737G>A	19.37:g.52394652C>T	ENSP00000347043:p.Arg246Lys					ZNF649_ENST00000600738.1_Splice_Site|CTC-429C10.2_ENST00000600329.1_RNA	p.R246K	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)	5	1021	-		all_neural(266;0.0602)	246					A8MYJ5|B2RDC4|Q9H9N2	Missense_Mutation	SNP	ENST00000354957.3	37	c.737G>A	CCDS12843.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	0.012	-1.651653	0.00785	.	.	ENSG00000198093	ENST00000354957	T	0.03951	3.75	2.35	-2.86	0.05717	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01661	0.0053	N	0.02708	-0.52	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45862	-0.9232	9	0.02654	T	1	.	8.4533	0.32884	0.0:0.4449:0.0:0.5551	.	246	Q9BS31	ZN649_HUMAN	K	246	ENSP00000347043:R246K	ENSP00000347043:R246K	R	-	2	0	ZNF649	57086464	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.392000	0.02523	-0.839000	0.04212	-1.750000	0.00680	AGG		0.502	ZNF649-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461097.1	NM_023074		8	677	0	0	0	2.17888e-05	0	8	677				
COL6A5	256076	broad.mit.edu	37	3	130174477	130174477	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:130174477C>A	ENST00000432398.2	+	37	7251	c.6757C>A	c.(6757-6759)Caa>Aaa	p.Q2253K	COL6A5_ENST00000265379.6_Missense_Mutation_p.Q2253K	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2253	Nonhelical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.Q292K(1)|p.Q2253K(1)		endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TGAAAAAGATCAAAAATCTGC	0.333																																						ENST00000265379.6																			2	Substitution - Missense(2)	p.Q292K(1)|p.Q2253K(1)	kidney(2)	endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						c.(6757-6759)Caa>Aaa		collagen, type VI, alpha 5							49.0	48.0	49.0					3																	130174477		1804	4064	5868	SO:0001583	missense	256076				axon guidance|cell adhesion	collagen		g.chr3:130174477C>A	AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.6757C>A	3.37:g.130174477C>A	ENSP00000390895:p.Gln2253Lys					COL6A5_ENST00000432398.2_Missense_Mutation_p.Q2253K	p.Q2253K			A8TX70	CO6A5_HUMAN			37	7251	+			2253			Nonhelical region.		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	ENST00000432398.2	37	c.6757C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.821|3.821	-0.037685|-0.037685	0.07497|0.07497	.|.	.|.	ENSG00000172752|ENSG00000172752	ENST00000432398;ENST00000265379;ENST00000373157;ENST00000512482|ENST00000512836	D;D;T;T|.	0.88818|.	-2.34;-2.43;-0.87;-0.75|.	4.26|4.26	0.026|0.026	0.14148|0.14148	.|.	2.119150|.	0.02670|.	N|.	0.108475|.	T|.	0.21841|.	0.0526|.	N|N	0.17474|0.17474	0.49|0.49	0.09310|0.09310	N|N	1|1	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.04013|.	0.0;0.001|.	T|.	0.30031|.	-0.9992|.	10|.	0.02654|.	T|.	1|.	.|.	8.2937|8.2937	0.31973|0.31973	0.3027:0.5542:0.1431:0.0|0.3027:0.5542:0.1431:0.0	.|.	2253;2253|.	A8TX70;A8TX70-2|.	CO6A5_HUMAN;.|.	K|X	2253;2253;196;88|504	ENSP00000390895:Q2253K;ENSP00000265379:Q2253K;ENSP00000362250:Q196K;ENSP00000424968:Q88K|.	ENSP00000265379:Q2253K|.	Q|S	+|+	1|2	0|0	COL6A5|COL6A5	131657167|131657167	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-0.464000|-0.464000	0.06688|0.06688	0.170000|0.170000	0.19704|0.19704	-0.846000|-0.846000	0.03041|0.03041	CAA|TCA		0.333	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264		8	321	1	0	2.17888e-05	2.17888e-05	0.00213033	8	321				
UGT2B10	7365	broad.mit.edu	37	4	69683833	69683833	+	Missense_Mutation	SNP	T	T	C			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr4:69683833T>C	ENST00000265403.7	+	2	832	c.805T>C	c.(805-807)Ttc>Ctc	p.F269L	UGT2B10_ENST00000458688.2_Missense_Mutation_p.F185L	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	269					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						TCCTCATCCATTCTTACCAAA	0.388																																					Melanoma(133;755 1763 25578 26334 46021)	ENST00000265403.7																			0				endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						c.(805-807)Ttc>Ctc		UDP glucuronosyltransferase 2 family, polypeptide B10							161.0	168.0	166.0					4																	69683833		2203	4298	6501	SO:0001583	missense	7365				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69683833T>C	X63359	CCDS75135.1, CCDS75136.1	4q13.3	2008-02-05	2005-07-20			ENSG00000109181		"""UDP glucuronosyltransferases"""	12544	protein-coding gene	gene with protein product		600070	"""UDP glycosyltransferase 2 family, polypeptide B10"""			8333863	Standard	NM_001075		Approved		uc003hee.3	P36537		ENST00000265403.7:c.805T>C	4.37:g.69683833T>C	ENSP00000265403:p.Phe269Leu					UGT2B10_ENST00000458688.2_Missense_Mutation_p.F185L	p.F269L	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN			2	832	+			269					A8K9M3|B4DPP1|Q14CR8	Missense_Mutation	SNP	ENST00000265403.7	37	c.805T>C		.	.	.	.	.	.	.	.	.	.	t	0.001	-2.962311	0.00049	.	.	ENSG00000109181	ENST00000265403;ENST00000458688	T;T	0.54675	0.56;0.56	2.66	-5.02	0.02982	.	0.305292	0.30277	N	0.009989	T	0.13884	0.0336	N	0.02169	-0.655	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.24905	-1.0147	10	0.02654	T	1	.	3.7802	0.08677	0.2656:0.2148:0.0:0.5196	.	185;269	B4DPP1;P36537	.;UDB10_HUMAN	L	269;185	ENSP00000265403:F269L;ENSP00000413420:F185L	ENSP00000265403:F269L	F	+	1	0	UGT2B10	69718422	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.207000	0.09384	-1.970000	0.01003	-2.800000	0.00114	TTC		0.388	UGT2B10-001	KNOWN	non_canonical_polymorphism|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365169.1	NM_001075		7	1122	0	0	0	3.59834e-05	0	7	1122				
MIR1302-3	100302128	broad.mit.edu	37	2	114340629	114340629	+	RNA	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:114340629G>T	ENST00000408128.1	-	0	44					NR_031632.1				microRNA 1302-3																		tttatgctacgaaattattcg	0.338																																						ENST00000408128.1																			0																				73.0	73.0	73.0					2																	114340629		1568	3564	5132			0							g.chr2:114340629G>T			2q13	2011-09-12		2008-12-18	ENSG00000221055	ENSG00000221055		"""ncRNAs / Micro RNAs"""	35295	non-coding RNA	RNA, micro				MIRN1302-3			Standard	NR_031632		Approved	hsa-mir-1302-3					2.37:g.114340629G>T								NR_031632.1						0	44	-									RNA	SNP	ENST00000408128.1	37																																																																																						0.338	MIR1302-3-201	KNOWN	basic	miRNA	miRNA		NR_031632		15	1162	1	0	0.000151284	0.000151284	0.00973904	15	1162				
DLK2	65989	broad.mit.edu	37	6	43418947	43418947	+	Missense_Mutation	SNP	C	C	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr6:43418947C>T	ENST00000357338.3	-	6	1182	c.482G>A	c.(481-483)cGc>cAc	p.R161H	DLK2_ENST00000372485.1_Missense_Mutation_p.R155H|DLK2_ENST00000414245.1_Missense_Mutation_p.R155H|DLK2_ENST00000372488.3_Missense_Mutation_p.R161H	NM_206539.1	NP_996262.1	Q6UY11	DLK2_HUMAN	delta-like 2 homolog (Drosophila)	161	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				negative regulation of Notch signaling pathway (GO:0045746)|regulation of fat cell differentiation (GO:0045598)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CACCAAGCAGCGGCACGTGAA	0.592																																						ENST00000357338.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7						c.(481-483)cGc>cAc		delta-like 2 homolog (Drosophila)							79.0	54.0	62.0					6																	43418947		2203	4300	6503	SO:0001583	missense	65989					integral to membrane	calcium ion binding	g.chr6:43418947C>T	AK055380	CCDS4897.1, CCDS75461.1	6p21.1	2008-02-05	2007-07-05	2007-07-05	ENSG00000171462	ENSG00000171462			21113	protein-coding gene	gene with protein product			"""EGF-like-domain, multiple 9"""	EGFL9			Standard	NM_001286656		Approved	MGC2487	uc003ovb.3	Q6UY11	OTTHUMG00000014735	ENST00000357338.3:c.482G>A	6.37:g.43418947C>T	ENSP00000349893:p.Arg161His					DLK2_ENST00000414245.1_Missense_Mutation_p.R155H|DLK2_ENST00000372488.3_Missense_Mutation_p.R161H|DLK2_ENST00000372485.1_Missense_Mutation_p.R155H	p.R161H	NM_206539.1	NP_996262.1	Q6UY11	DLK2_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		6	1182	-	all_lung(25;0.00536)		161			EGF-like 4.		B3KNZ7|Q5T3T8|Q9BQ54	Missense_Mutation	SNP	ENST00000357338.3	37	c.482G>A	CCDS4897.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.07|18.07	3.542004|3.542004	0.65198|0.65198	.|.	.|.	ENSG00000171462|ENSG00000171462	ENST00000430324|ENST00000372485;ENST00000372488;ENST00000357338;ENST00000414245	.|D;D;D;D	.|0.87809	.|-2.3;-2.3;-2.3;-2.3	4.51|4.51	4.51|4.51	0.55191|0.55191	.|Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.67297|0.67297	0.2878|0.2878	N|N	0.21373|0.21373	0.66|0.66	0.46167|0.46167	D|D	0.998909|0.998909	.|P	.|0.51240	.|0.943	.|B	.|0.40410	.|0.328	T|T	0.68655|0.68655	-0.5351|-0.5351	5|10	.|0.19147	.|T	.|0.46	.|.	12.2573|12.2573	0.54631|0.54631	0.0:0.9171:0.0:0.0829|0.0:0.9171:0.0:0.0829	.|.	.|161	.|Q6UY11	.|DLK2_HUMAN	T|H	67|155;161;161;155	.|ENSP00000361563:R155H;ENSP00000361566:R161H;ENSP00000349893:R161H;ENSP00000398906:R155H	.|ENSP00000349893:R161H	A|R	-|-	1|2	0|0	DLK2|DLK2	43526925|43526925	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.838000|0.838000	0.47535|0.47535	2.486000|2.486000	0.45259|0.45259	2.507000|2.507000	0.84556|0.84556	0.455000|0.455000	0.32223|0.32223	GCT|CGC		0.592	DLK2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040618.1	NM_023932		6	169	0	0	0	0.000157383	0	6	169				
SLC1A4	6509	broad.mit.edu	37	2	65228619	65228619	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:65228619C>A	ENST00000234256.3	+	2	808	c.565C>A	c.(565-567)Cgt>Agt	p.R189S	SLC1A4_ENST00000531327.1_5'UTR|SLC1A4_ENST00000493121.1_3'UTR	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN	solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	189					amino acid transport (GO:0006865)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|cognition (GO:0050890)|glutamine transport (GO:0006868)|hydroxyproline transport (GO:0034589)|ion transport (GO:0006811)|L-alanine transport (GO:0015808)|L-cystine transport (GO:0015811)|L-serine transport (GO:0015825)|proline transmembrane transport (GO:0035524)|proline transport (GO:0015824)|synaptic transmission, glutamatergic (GO:0035249)|threonine transport (GO:0015826)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|centrosome (GO:0005813)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament (GO:0005882)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|L-alanine transmembrane transporter activity (GO:0015180)|L-cystine transmembrane transporter activity (GO:0015184)|L-glutamine transmembrane transporter activity (GO:0015186)|L-hydroxyproline transmembrane transporter activity (GO:0034590)|L-proline transmembrane transporter activity (GO:0015193)|L-serine transmembrane transporter activity (GO:0015194)|L-threonine transmembrane transporter activity (GO:0015195)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13					L-Alanine(DB00160)	TGCAGCTTTCCGTACGGTAAG	0.373																																						ENST00000234256.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13						c.(565-567)Cgt>Agt		solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	L-Alanine(DB00160)						153.0	143.0	147.0					2																	65228619		2203	4300	6503	SO:0001583	missense	6509				cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic	intermediate filament|melanosome	chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr2:65228619C>A		CCDS1879.1, CCDS54362.1	2p15-p13	2013-05-22			ENSG00000115902	ENSG00000115902		"""Solute carriers"""	10942	protein-coding gene	gene with protein product	"""alanine/serine/cysteine/threonine transporter"""	600229				7896285, 8910405	Standard	NM_003038		Approved	SATT, ASCT1	uc010yqa.2	P43007	OTTHUMG00000129537	ENST00000234256.3:c.565C>A	2.37:g.65228619C>A	ENSP00000234256:p.Arg189Ser					SLC1A4_ENST00000493121.1_3'UTR|SLC1A4_ENST00000531327.1_5'UTR	p.R189S	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN			2	808	+			189					B7Z3C0|D6W5F0	Missense_Mutation	SNP	ENST00000234256.3	37	c.565C>A	CCDS1879.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.646307	0.47258	.	.	ENSG00000115902	ENST00000448784;ENST00000234256	T	0.58060	0.36	6.17	3.39	0.38822	.	0.422704	0.29046	N	0.013305	T	0.35364	0.0929	N	0.25031	0.7	0.80722	D	1	B;B	0.10296	0.003;0.003	B;B	0.22386	0.026;0.039	T	0.08848	-1.0702	10	0.39692	T	0.17	-23.7892	6.4387	0.21837	0.2407:0.5793:0.1161:0.0639	.	189;189	P43007;B2R7N6	SATT_HUMAN;.	S	109;189	ENSP00000234256:R189S	ENSP00000234256:R189S	R	+	1	0	SLC1A4	65082123	0.033000	0.19621	0.115000	0.21578	0.961000	0.63080	2.576000	0.46033	0.455000	0.26910	0.655000	0.94253	CGT		0.373	SLC1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251726.2	NM_003038		9	860	1	0	6.40141e-05	6.40141e-05	0.00496729	9	860				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	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		5	260	0	0	0	1.23904e-05	0	5	260				
ZNF385B	151126	broad.mit.edu	37	2	180311341	180311341	+	Nonsense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:180311341G>T	ENST00000410066.1	-	7	1430	c.827C>A	c.(826-828)tCa>tAa	p.S276*	ZNF385B_ENST00000409692.1_Nonsense_Mutation_p.S174*|ZNF385B_ENST00000336917.5_Nonsense_Mutation_p.S174*|ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000409343.1_Nonsense_Mutation_p.S200*	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	276	Interaction with p53/TP53.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|p53 binding (GO:0002039)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			TTCTTCTTCTGATTCAACAAC	0.478																																					Colon(155;204 2491 32774 51842)	ENST00000410066.1																			0				breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26						c.(826-828)tCa>tAa		zinc finger protein 385B							108.0	110.0	109.0					2																	180311341		2203	4300	6503	SO:0001587	stop_gained	151126					nucleus	nucleic acid binding|zinc ion binding	g.chr2:180311341G>T	AK057999	CCDS33339.1, CCDS46463.1, CCDS46464.1	2q31.3-q32.1	2012-10-05	2007-12-06	2007-12-06	ENSG00000144331	ENSG00000144331			26332	protein-coding gene	gene with protein product		612344	"""zinc finger protein 533"""	ZNF533		12477932	Standard	NM_152520		Approved	FLJ25270	uc002unn.4	Q569K4	OTTHUMG00000154559	ENST00000410066.1:c.827C>A	2.37:g.180311341G>T	ENSP00000386845:p.Ser276*					ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000409692.1_Nonsense_Mutation_p.S174*|ZNF385B_ENST00000409343.1_Nonsense_Mutation_p.S200*|ZNF385B_ENST00000336917.5_Nonsense_Mutation_p.S174*	p.S276*	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)		7	1430	-			276					Q49A04|Q6ZMZ7|Q8IY01|Q8N8H2|Q96DK4	Nonsense_Mutation	SNP	ENST00000410066.1	37	c.827C>A	CCDS33339.1	.	.	.	.	.	.	.	.	.	.	G	37	6.259971	0.97421	.	.	ENSG00000144331	ENST00000410066;ENST00000336917;ENST00000409343;ENST00000409692;ENST00000457304	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	0.808	20.1338	0.98010	0.0:0.0:1.0:0.0	.	.	.	.	X	276;174;200;174;174	.	ENSP00000338225:S174X	S	-	2	0	ZNF385B	180019586	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.624000	0.98398	2.770000	0.95276	0.655000	0.94253	TCA		0.478	ZNF385B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335972.1	NM_152520		11	523	1	0	2.27111e-07	0.00010058	3.11869e-05	11	523				
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr22:29091841G>A	ENST00000405598.1	-	12	1307	c.1116C>T	c.(1114-1116)tcC>tcT	p.S372S	CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000544772.1_Silent_p.S151S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382565.1_Intron			O96017	CHK2_HUMAN	checkpoint kinase 2	372	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			8	Substitution - coding silent(8)	p.S372S(8)	kidney(4)|prostate(2)|endometrium(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(451-453)tcC>tcT	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2							43.0	44.0	44.0					22																	29091841		2203	4300	6503	SO:0001819	synonymous_variant	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091841G>A	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1116C>T	22.37:g.29091841G>A						CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382578.1_Silent_p.S281S	p.S151S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1889	-			372			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Silent	SNP	ENST00000405598.1	37	c.453C>T	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	G	5.792	0.330417	0.10956	.	.	ENSG00000183765	ENST00000434810	.	.	.	5.89	-2.11	0.07187	.	.	.	.	.	T	0.42154	0.1190	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33854	-0.9852	4	.	.	.	-7.6356	3.2532	0.06822	0.327:0.1103:0.4613:0.1014	.	.	.	.	L	116	.	.	P	-	2	0	CHEK2	27421841	0.997000	0.39634	0.996000	0.52242	0.470000	0.32858	0.318000	0.19504	-0.075000	0.12798	-0.907000	0.02831	CCA		0.413	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		33	346	0	0	0	0.000147903	0	33	346				
MAGI2	9863	broad.mit.edu	37	7	77755148	77755148	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr7:77755148C>A	ENST00000354212.4	-	20	3683	c.3430G>T	c.(3430-3432)Gat>Tat	p.D1144Y	MAGI2_ENST00000522391.1_Missense_Mutation_p.D1144Y|MAGI2_ENST00000419488.1_Missense_Mutation_p.D1130Y	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	1144					cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GTGAAATAATCAAAATCCTTT	0.398																																						ENST00000354212.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84						c.(3430-3432)Gat>Tat		membrane associated guanylate kinase, WW and PDZ domain containing 2							74.0	71.0	72.0					7																	77755148		2203	4300	6503	SO:0001583	missense	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:77755148C>A	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.3430G>T	7.37:g.77755148C>A	ENSP00000346151:p.Asp1144Tyr					MAGI2_ENST00000522391.1_Missense_Mutation_p.D1144Y|MAGI2_ENST00000419488.1_Missense_Mutation_p.D1130Y	p.D1144Y	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN			20	3683	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	1144					A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	c.3430G>T	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.826992	0.90955	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391	T;T;T	0.17691	2.26;2.26;2.26	6.03	6.03	0.97812	PDZ/DHR/GLGF (1);	0.000000	0.37530	U	0.002049	T	0.33498	0.0865	L	0.27053	0.805	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.85130	0.997;0.994;0.997	T	0.03175	-1.1064	10	0.72032	D	0.01	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	1144;1130;1144	E7EWI0;Q86UL8-2;Q86UL8	.;.;MAGI2_HUMAN	Y	1130;1144;1144;1144	ENSP00000405766:D1130Y;ENSP00000346151:D1144Y;ENSP00000428389:D1144Y	ENSP00000346151:D1144Y	D	-	1	0	MAGI2	77593084	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.861000	0.98227	0.655000	0.94253	GAT		0.398	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		13	453	1	0	0.000151284	0.000151284	0.00973904	13	453				
TCP1	6950	broad.mit.edu	37	6	160202137	160202137	+	Missense_Mutation	SNP	G	G	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr6:160202137G>A	ENST00000321394.7	-	8	1083	c.803C>T	c.(802-804)tCa>tTa	p.S268L	SNORA20_ENST00000384662.1_RNA|TCP1_ENST00000544255.1_Missense_Mutation_p.S44L|TCP1_ENST00000392168.2_Missense_Mutation_p.S113L|TCP1_ENST00000420894.2_Missense_Mutation_p.S268L	NM_030752.2	NP_110379.2	P17987	TCPA_HUMAN	t-complex 1	268					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|tubulin complex assembly (GO:0007021)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|nuclear heterochromatin (GO:0005720)|pericentriolar material (GO:0000242)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|large_intestine(3)|lung(2)	10		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		GGTGATATCTGATTCTCTGCA	0.328																																						ENST00000321394.7																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(2)	10						c.(802-804)tCa>tTa		t-complex 1							146.0	142.0	144.0					6																	160202137		2203	4300	6503	SO:0001583	missense	6950				'de novo' posttranslational protein folding|tubulin complex assembly	cell junction|Golgi apparatus	ATP binding|unfolded protein binding	g.chr6:160202137G>A	X52882	CCDS5269.1, CCDS43522.1	6q25-q27	2012-10-02			ENSG00000120438	ENSG00000120438		"""Heat Shock Proteins / Chaperonins"""	11655	protein-coding gene	gene with protein product		186980				3476253, 3653076	Standard	NM_030752		Approved	D6S230E, CCT1, Ccta	uc003qsr.3	P17987	OTTHUMG00000015937	ENST00000321394.7:c.803C>T	6.37:g.160202137G>A	ENSP00000317334:p.Ser268Leu					TCP1_ENST00000544255.1_Missense_Mutation_p.S44L|TCP1_ENST00000392168.2_Missense_Mutation_p.S113L|TCP1_ENST00000420894.2_Missense_Mutation_p.S268L	p.S268L	NM_030752.2	NP_110379.2	P17987	TCPA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)	8	1083	-		Breast(66;1.53e-05)|Ovarian(120;0.024)	268					E1P5B2|Q15556|Q5TCM3	Missense_Mutation	SNP	ENST00000321394.7	37	c.803C>T	CCDS5269.1	.	.	.	.	.	.	.	.	.	.	G	13.53	2.264755	0.40095	.	.	ENSG00000120438	ENST00000321394;ENST00000544255;ENST00000420894;ENST00000392168;ENST00000539756	T;T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19;-1.19	5.63	5.63	0.86233	.	0.054590	0.85682	D	0.000000	T	0.43722	0.1260	N	0.04508	-0.205	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.14578	0.002;0.011	T	0.50381	-0.8835	10	0.10902	T	0.67	-8.3473	19.6959	0.96026	0.0:0.0:1.0:0.0	.	268;268	E7ERF2;P17987	.;TCPA_HUMAN	L	268;44;268;113;66	ENSP00000317334:S268L;ENSP00000439447:S44L;ENSP00000390159:S268L;ENSP00000376008:S113L;ENSP00000441345:S66L	ENSP00000317334:S268L	S	-	2	0	TCP1	160122127	1.000000	0.71417	0.978000	0.43139	0.911000	0.54048	7.367000	0.79558	2.659000	0.90383	0.650000	0.86243	TCA		0.328	TCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042917.2	NM_030752		67	520	0	0	0	0.000147903	0	67	520				
PIGB	9488	broad.mit.edu	37	15	55642957	55642957	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr15:55642957C>A	ENST00000164305.5	+	10	1475	c.1184C>A	c.(1183-1185)tCa>tAa	p.S395*	PIGB_ENST00000539642.1_Nonsense_Mutation_p.S200*|CCPG1_ENST00000563294.1_5'Flank	NM_004855.4	NP_004846.4	Q92521	PIGB_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class B	395					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	mannosyltransferase activity (GO:0000030)			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11				all cancers(107;0.0255)		CTGTTTTTATCAAATTTGTTC	0.343																																						ENST00000164305.5																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11						c.(1183-1185)tCa>tAa		phosphatidylinositol glycan anchor biosynthesis, class B							149.0	149.0	149.0					15																	55642957		1821	4071	5892	SO:0001587	stop_gained	9488				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	integral to membrane|intrinsic to endoplasmic reticulum membrane	glycolipid mannosyltransferase activity	g.chr15:55642957C>A	D42138	CCDS61641.1	15q21.3	2013-02-26	2006-06-28		ENSG00000069943	ENSG00000069943		"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"", ""Phosphatidylinositol glycan anchor biosynthesis"""	8959	protein-coding gene	gene with protein product	"""GPI mannosyltransferase 3"", ""dol-P-Man dependent GPI mannosyltransferase"""	604122	"""phosphatidylinositol glycan, class B"""			8861954	Standard	NM_004855		Approved		uc002act.3	Q92521	OTTHUMG00000172654	ENST00000164305.5:c.1184C>A	15.37:g.55642957C>A	ENSP00000164305:p.Ser395*					PIGB_ENST00000539642.1_Nonsense_Mutation_p.S200*	p.S395*	NM_004855.4	NP_004846.4	Q92521	PIGB_HUMAN		all cancers(107;0.0255)	10	1475	+			395					Q53FF9|Q8WVN7	Nonsense_Mutation	SNP	ENST00000164305.5	37	c.1184C>A		.	.	.	.	.	.	.	.	.	.	C	40	8.168956	0.98688	.	.	ENSG00000069943	ENST00000164305;ENST00000539642	.	.	.	6.08	5.16	0.70880	.	0.432063	0.25863	N	0.027801	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-11.2184	14.3722	0.66849	0.0:0.9296:0.0:0.0704	.	.	.	.	X	395;200	.	ENSP00000164305:S395X	S	+	2	0	PIGB	53430249	1.000000	0.71417	0.875000	0.34327	0.980000	0.70556	3.396000	0.52565	1.575000	0.49775	0.591000	0.81541	TCA		0.343	PIGB-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000419687.1	NM_004855		13	888	1	0	3.45872e-05	3.45872e-05	0.0032145	13	888				
PLEKHG1	57480	broad.mit.edu	37	6	151153189	151153189	+	Missense_Mutation	SNP	G	G	A	rs113595784	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr6:151153189G>A	ENST00000358517.2	+	15	3153	c.2942G>A	c.(2941-2943)cGg>cAg	p.R981Q	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.R981Q			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	981							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		ATGATGGCTCGGCAGTACAGT	0.507																																						ENST00000367328.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53						c.(2941-2943)cGg>cAg		pleckstrin homology domain containing, family G (with RhoGef domain) member 1							110.0	123.0	118.0					6																	151153189		2203	4300	6503	SO:0001583	missense	57480				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:151153189G>A	AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.2942G>A	6.37:g.151153189G>A	ENSP00000351318:p.Arg981Gln					PLEKHG1_ENST00000358517.2_Missense_Mutation_p.R981Q	p.R981Q	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)	16	3254	+			981					Q5T1F2	Missense_Mutation	SNP	ENST00000358517.2	37	c.2942G>A	CCDS34552.1	.	.	.	.	.	.	.	.	.	.	G	35	5.451520	0.96205	.	.	ENSG00000120278	ENST00000367328;ENST00000358517	T;T	0.30448	1.53;1.53	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.50888	0.1642	M	0.68952	2.095	0.52501	D	0.999954	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.51108	-0.8747	10	0.87932	D	0	.	20.0825	0.97783	0.0:0.0:1.0:0.0	.	788;981;981	Q5EBL9;Q5JYA6;Q9ULL1	.;.;PKHG1_HUMAN	Q	981	ENSP00000356297:R981Q;ENSP00000351318:R981Q	ENSP00000351318:R981Q	R	+	2	0	PLEKHG1	151194882	1.000000	0.71417	0.996000	0.52242	0.983000	0.72400	9.476000	0.97823	2.746000	0.94184	0.655000	0.94253	CGG		0.507	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1			12	773	0	0	0	6.40141e-05	0	12	773				
ANKRD30A	91074	broad.mit.edu	37	10	37431050	37431050	+	Missense_Mutation	SNP	G	G	C	rs201391167		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr10:37431050G>C	ENST00000602533.1	+	7	1156	c.1057G>C	c.(1057-1059)Gca>Cca	p.A353P	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.A353P|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.A353P			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	409					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A353P(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ATTTACGTGGGCAGCAAAAGG	0.408																																						ENST00000374660.1																			1	Substitution - Missense(1)	p.A353P(1)	lung(1)	NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(1057-1059)Gca>Cca		ankyrin repeat domain 30A							102.0	102.0	102.0					10																	37431050		1853	4086	5939	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37431050G>C	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.1057G>C	10.37:g.37431050G>C	ENSP00000473551:p.Ala353Pro					ANKRD30A_ENST00000361713.1_Missense_Mutation_p.A353P|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.A353P	p.A353P			Q9BXX3	AN30A_HUMAN			7	1156	+			409					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.1057G>C		.	.	.	.	.	.	.	.	.	.	.	2.178	-0.388156	0.04932	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.39592	1.19;1.07	.	.	.	.	.	.	.	.	T	0.28300	0.0699	N	0.08118	0	0.09310	N	1	P	0.48350	0.909	P	0.51297	0.665	T	0.16188	-1.0411	7	0.33141	T	0.24	.	.	.	.	.	409	Q9BXX3	AN30A_HUMAN	P	353	ENSP00000354432:A353P;ENSP00000363792:A353P	ENSP00000354432:A353P	A	+	1	0	ANKRD30A	37471056	0.782000	0.28689	0.179000	0.23059	0.179000	0.23085	-0.616000	0.05591	0.088000	0.17205	0.089000	0.15464	GCA		0.408	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		5	568	0	0	0	0.000157383	0	5	568				
CCDC63	160762	broad.mit.edu	37	12	111336859	111336859	+	Silent	SNP	C	C	T	rs115748204	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr12:111336859C>T	ENST00000308208.5	+	10	1514	c.1272C>T	c.(1270-1272)gaC>gaT	p.D424D	CCDC63_ENST00000552694.1_Silent_p.D345D|CCDC63_ENST00000545036.1_Silent_p.D384D	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	424										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						TAAACTGTGACGCCACCAAGA	0.498													C|||	12	0.00239617	0.0008	0.0	5008	,	,		19408	0.0		0.0	False		,,,				2504	0.0112					ENST00000308208.5																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						c.(1270-1272)gaC>gaT		coiled-coil domain containing 63		C		1,4405	2.1+/-5.4	0,1,2202	100.0	89.0	93.0		1272	-4.7	0.8	12	dbSNP_132	93	0,8600		0,0,4300	no	coding-synonymous	CCDC63	NM_152591.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		424/564	111336859	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	160762							g.chr12:111336859C>T	AK093162	CCDS9151.1, CCDS66470.1, CCDS73528.1	12q24.11	2013-02-19				ENSG00000173093			26669	protein-coding gene	gene with protein product	"""outer row dynein assembly 5 homolog (Chlamydomonas)"""						Standard	NM_001286243		Approved	ODA5, FLJ35843	uc001trv.1	Q8NA47	OTTHUMG00000169534	ENST00000308208.5:c.1272C>T	12.37:g.111336859C>T						CCDC63_ENST00000552694.1_Silent_p.D345D|CCDC63_ENST00000545036.1_Silent_p.D384D	p.D424D	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN			10	1514	+			424					B4DY03|Q0P603|Q6P2E1	Silent	SNP	ENST00000308208.5	37	c.1272C>T	CCDS9151.1																																																																																				0.498	CCDC63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404673.2	NM_152591		31	231	0	0	0	3.70037e-05	0	31	231				
JPH1	56704	broad.mit.edu	37	8	75149493	75149493	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr8:75149493C>A	ENST00000342232.4	-	5	1991	c.1951G>T	c.(1951-1953)Ggg>Tgg	p.G651W	JPH1_ENST00000518195.1_5'UTR	NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	651					calcium ion transport into cytosol (GO:0060402)|muscle organ development (GO:0007517)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.G651W(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			ATGGCCAACCCGATATTCAAC	0.318																																						ENST00000342232.4																			1	Substitution - Missense(1)	p.G651W(1)	lung(1)	endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24						c.(1951-1953)Ggg>Tgg		junctophilin 1							107.0	99.0	102.0					8																	75149493		2203	4300	6503	SO:0001583	missense	56704				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr8:75149493C>A	AB042634	CCDS6217.1	8q21	2008-07-03			ENSG00000104369	ENSG00000104369			14201	protein-coding gene	gene with protein product		605266				10891348, 10949023	Standard	XM_005251273		Approved	JP-1	uc003yae.3	Q9HDC5	OTTHUMG00000164524	ENST00000342232.4:c.1951G>T	8.37:g.75149493C>A	ENSP00000344488:p.Gly651Trp					JPH1_ENST00000518195.1_5'UTR	p.G651W	NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)		5	1991	-	Breast(64;0.00576)		651					B2RTZ0	Missense_Mutation	SNP	ENST00000342232.4	37	c.1951G>T	CCDS6217.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.335460	0.81801	.	.	ENSG00000104369	ENST00000342232	T	0.78924	-1.22	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.87545	0.6204	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88263	0.2924	10	0.87932	D	0	.	19.008	0.92859	0.0:1.0:0.0:0.0	.	651	Q9HDC5	JPH1_HUMAN	W	651	ENSP00000344488:G651W	ENSP00000344488:G651W	G	-	1	0	JPH1	75312047	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.943000	0.75934	2.740000	0.93945	0.650000	0.86243	GGG		0.318	JPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379102.1			9	864	1	0	3.86212e-05	3.86212e-05	0.00332401	9	864				
RBBP5	5929	broad.mit.edu	37	1	205073048	205073048	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:205073048C>A	ENST00000264515.6	-	5	600	c.459G>T	c.(457-459)ttG>ttT	p.L153F	RBBP5_ENST00000484379.1_5'Flank|RBBP5_ENST00000367164.1_Missense_Mutation_p.L153F	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	retinoblastoma binding protein 5	153					cellular response to DNA damage stimulus (GO:0006974)|histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	methylated histone binding (GO:0035064)|transcription regulatory region DNA binding (GO:0044212)			cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			CCACAACGTTCAAATCGGAGT	0.458																																						ENST00000264515.6																			0				cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27						c.(457-459)ttG>ttT		retinoblastoma binding protein 5							207.0	196.0	199.0					1																	205073048		2203	4300	6503	SO:0001583	missense	5929				histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent	MLL1 complex|Set1C/COMPASS complex	methylated histone residue binding|transcription regulatory region DNA binding	g.chr1:205073048C>A	BC053856	CCDS30983.1, CCDS53463.1	1q32	2013-01-10	2001-11-28		ENSG00000117222	ENSG00000117222		"""WD repeat domain containing"""	9888	protein-coding gene	gene with protein product	"""SWD1, Set1c WD40 repeat protein, homolog (S. cerevisiae)"""	600697	"""retinoblastoma-binding protein 5"""			7558034	Standard	NM_005057		Approved	RBQ3, SWD1	uc001hbu.2	Q15291	OTTHUMG00000037104	ENST00000264515.6:c.459G>T	1.37:g.205073048C>A	ENSP00000264515:p.Leu153Phe					RBBP5_ENST00000367164.1_Missense_Mutation_p.L153F	p.L153F	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0923)		5	600	-	Breast(84;0.0505)		153					A8K272|Q7Z6D8|Q8NDZ7	Missense_Mutation	SNP	ENST00000264515.6	37	c.459G>T	CCDS30983.1	.	.	.	.	.	.	.	.	.	.	C	12.43	1.935417	0.34189	.	.	ENSG00000117222	ENST00000264515;ENST00000367164	T;T	0.60920	0.15;0.17	6.14	6.14	0.99180	WD40/YVTN repeat-like-containing domain (1);	0.128869	0.53938	D	0.000056	T	0.69522	0.3120	M	0.80616	2.505	0.80722	D	1	D;D;D;D	0.69078	0.997;0.994;0.99;0.983	D;P;P;P	0.63597	0.916;0.854;0.88;0.762	T	0.66432	-0.5925	10	0.09843	T	0.71	.	9.3503	0.38133	0.0:0.6767:0.2503:0.073	.	26;188;153;153	B4DLF8;B4DMM7;Q15291-2;Q15291	.;.;.;RBBP5_HUMAN	F	153	ENSP00000264515:L153F;ENSP00000356132:L153F	ENSP00000264515:L153F	L	-	3	2	RBBP5	203339671	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.139000	0.31504	2.937000	0.99478	0.650000	0.86243	TTG		0.458	RBBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090077.1	NM_005057		13	823	1	0	0.00010058	0.00010058	0.0072096	13	823				
CFAP69	79846	broad.mit.edu	37	7	89894677	89894677	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr7:89894677C>A	ENST00000389297.4	+	5	670	c.419C>A	c.(418-420)tCa>tAa	p.S140*	C7orf63_ENST00000316089.8_Nonsense_Mutation_p.S140*|C7orf63_ENST00000497910.1_Nonsense_Mutation_p.S140*|AC002064.4_ENST00000420245.1_RNA|C7orf63_ENST00000463311.1_3'UTR	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN		140										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						ACTGCTAATTCAATTGCACTT	0.338																																						ENST00000389297.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						c.(418-420)tCa>tAa		chromosome 7 open reading frame 63							135.0	135.0	135.0					7																	89894677		1840	4094	5934	SO:0001587	stop_gained	79846						binding	g.chr7:89894677C>A																												ENST00000389297.4:c.419C>A	7.37:g.89894677C>A	ENSP00000373948:p.Ser140*					C7orf63_ENST00000463311.1_3'UTR|C7orf63_ENST00000497910.1_Nonsense_Mutation_p.S140*|C7orf63_ENST00000316089.8_Nonsense_Mutation_p.S140*	p.S140*	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN			5	670	+			140					A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2	Nonsense_Mutation	SNP	ENST00000389297.4	37	c.419C>A	CCDS43613.2	.	.	.	.	.	.	.	.	.	.	C	17.89	3.500480	0.64298	.	.	ENSG00000105792	ENST00000389297;ENST00000316089;ENST00000497910;ENST00000457170	.	.	.	5.29	5.29	0.74685	.	0.161726	0.42420	D	0.000707	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.4101	18.9074	0.92467	0.0:1.0:0.0:0.0	.	.	.	.	X	140;140;140;80	.	ENSP00000321753:S140X	S	+	2	0	C7orf63	89732613	0.999000	0.42202	1.000000	0.80357	0.981000	0.71138	2.081000	0.41596	2.456000	0.83038	0.591000	0.81541	TCA		0.338	C7orf63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139891.4			11	991	1	0	0.00010058	0.00010058	0.0072096	11	991				
ANKLE2	23141	broad.mit.edu	37	12	133304629	133304629	+	Silent	SNP	C	C	A	rs371985719		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr12:133304629C>A	ENST00000357997.5	-	12	2693	c.2604G>T	c.(2602-2604)tcG>tcT	p.S868S	ANKLE2_ENST00000542657.1_Silent_p.S223S|ANKLE2_ENST00000542374.1_5'UTR|ANKLE2_ENST00000539605.1_Silent_p.S806S|ANKLE2_ENST00000542282.1_Silent_p.S223S	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	868					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)	p.S868S(1)		NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		TCTGTCTGTCCGAGGGTGAGT	0.572																																						ENST00000539605.1																			1	Substitution - coding silent(1)	p.S868S(1)	lung(1)	NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45						c.(2416-2418)tcG>tcT		ankyrin repeat and LEM domain containing 2							119.0	130.0	126.0					12																	133304629		1996	4148	6144	SO:0001819	synonymous_variant	23141					cytoplasm|integral to membrane|nuclear envelope		g.chr12:133304629C>A	AB014592	CCDS41869.1	12q24.33	2013-01-11	2008-03-25	2008-03-25	ENSG00000176915	ENSG00000176915		"""Ankyrin repeat domain containing"""	29101	protein-coding gene	gene with protein product	"""LEM domain containing 7"""		"""KIAA0692"""	KIAA0692		9734811	Standard	XM_005266159		Approved	LEMD7, Lem4	uc001ukx.2	Q86XL3	OTTHUMG00000168046	ENST00000357997.5:c.2604G>T	12.37:g.133304629C>A						ANKLE2_ENST00000357997.5_Silent_p.S868S|ANKLE2_ENST00000542374.1_5'UTR|ANKLE2_ENST00000542282.1_Silent_p.S223S|ANKLE2_ENST00000542657.1_Silent_p.S223S	p.S806S			Q86XL3	ANKL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)	11	9102	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	868					A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	Silent	SNP	ENST00000357997.5	37	c.2418G>T	CCDS41869.1																																																																																				0.572	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397712.1			10	873	1	0	6.40141e-05	6.40141e-05	0.00496729	10	873				
IFT88	8100	broad.mit.edu	37	13	21230565	21230565	+	Silent	SNP	C	C	A	rs147013462	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr13:21230565C>A	ENST00000319980.6	+	24	2418	c.2091C>A	c.(2089-2091)gtC>gtA	p.V697V	IFT88_ENST00000382778.4_Silent_p.V697V|IFT88_ENST00000351808.5_Silent_p.V688V|IFT88_ENST00000537103.1_Silent_p.V669V	NM_175605.3	NP_783195.2	Q13099	IFT88_HUMAN	intraflagellar transport 88	697					anterior/posterior pattern specification (GO:0009952)|cardiac muscle cell differentiation (GO:0055007)|cardiac septum morphogenesis (GO:0060411)|cilium morphogenesis (GO:0060271)|cochlea development (GO:0090102)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|embryonic digit morphogenesis (GO:0042733)|epidermal stem cell homeostasis (GO:0036334)|epidermis development (GO:0008544)|epithelial cell morphogenesis (GO:0003382)|eye development (GO:0001654)|forebrain morphogenesis (GO:0048853)|heart formation (GO:0060914)|inner ear receptor stereocilium organization (GO:0060122)|kidney development (GO:0001822)|liver development (GO:0001889)|lung vasculature development (GO:0060426)|negative regulation of epithelial cell proliferation (GO:0050680)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|pancreas development (GO:0031016)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|protein localization (GO:0008104)|regulation of autophagic vacuole assembly (GO:2000785)|regulation of cilium assembly (GO:1902017)|regulation of fat cell differentiation (GO:0045598)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of protein processing (GO:0070613)|regulation of smoothened signaling pathway (GO:0008589)|response to fluid shear stress (GO:0034405)|smoothened signaling pathway (GO:0007224)|sperm axoneme assembly (GO:0007288)|spermatid nucleus elongation (GO:0007290)|spinal cord dorsal/ventral patterning (GO:0021513)|telencephalon development (GO:0021537)	acrosomal membrane (GO:0002080)|apical part of cell (GO:0045177)|axonemal basal plate (GO:0097541)|centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|kinocilium (GO:0060091)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)|photoreceptor connecting cilium (GO:0032391)				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		CAGAAAATGTCGAATGTAAGT	0.259																																						ENST00000382778.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27						c.(2089-2091)gtC>gtA		intraflagellar transport 88 homolog (Chlamydomonas)							57.0	59.0	59.0					13																	21230565		2181	4246	6427	SO:0001819	synonymous_variant	8100				cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding	g.chr13:21230565C>A	AK058172	CCDS31944.1, CCDS31945.1	13q12.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000032742	ENSG00000032742		"""Intraflagellar transport homologs"", ""Tetratricopeptide (TTC) repeat domain containing"""	20606	protein-coding gene	gene with protein product	"""polaris homolog"""	600595	"""tetratricopeptide repeat domain 10"", ""intraflagellar transport 88 homolog (Chlamydomonas)"""	TTC10		7633404	Standard	XM_005266546		Approved	hTg737, Tg737, D13S1056E, MGC26259	uc001uni.3	Q13099	OTTHUMG00000016517	ENST00000319980.6:c.2091C>A	13.37:g.21230565C>A						IFT88_ENST00000319980.6_Silent_p.V697V|IFT88_ENST00000537103.1_Silent_p.V669V|IFT88_ENST00000351808.5_Silent_p.V688V	p.V697V			Q13099	IFT88_HUMAN		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)	23	3209	+		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)	697					A2A491|B4DUS2|Q5SZJ6|Q8N719	Silent	SNP	ENST00000319980.6	37	c.2091C>A	CCDS31944.1																																																																																				0.259	IFT88-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044075.3	NM_006531		10	401	1	0	9.31168e-06	0.000151284	0.00101158	10	401				
PRSS3P2	154754	broad.mit.edu	37	7	142482229	142482229	+	RNA	SNP	T	T	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr7:142482229T>A	ENST00000603901.1	+	0	609					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)	p.P203P(1)									CTGGTGGCCCTGTGGTCTGCA	0.493																																						ENST00000603901.1																			1	Substitution - coding silent(1)	p.P203P(1)	prostate(1)																																																0							g.chr7:142482229T>A			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142482229T>A								NR_001296.3						0	609	+									RNA	SNP	ENST00000603901.1	37																																																																																						0.493	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		7	152	0	0	0	3.86212e-05	0	7	152				
CSNK2A3	283106	broad.mit.edu	37	11	11374457	11374457	+	Silent	SNP	G	G	T	rs72865627		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr11:11374457G>T	ENST00000528848.2	-	1	447	c.210C>A	c.(208-210)ctC>ctA	p.L70L	GALNT18_ENST00000227756.4_Intron|RP11-567I13.1_ENST00000526867.1_RNA	NM_001256686.1	NP_001243615.1	Q8NEV1	CSK23_HUMAN	casein kinase 2, alpha 3 polypeptide	70	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|protein phosphatase regulator activity (GO:0019888)|protein serine/threonine kinase activity (GO:0004674)										TTACTGGCTTGAGAATTTTAA	0.358																																						ENST00000528848.2																			0											c.(208-210)ctC>ctA		casein kinase 2, alpha 3 polypeptide																																				SO:0001819	synonymous_variant	283106							g.chr11:11374457G>T	X64692	CCDS59224.1	11p15.3	2013-01-18	2013-01-17	2013-01-17	ENSG00000254598	ENSG00000254598			2458	protein-coding gene	gene with protein product			"""casein kinase 2, alpha 1 polypeptide pseudogene"""	CSNK2A1P		12102635, 1610905, 20625391	Standard	NM_001256686		Approved		uc001mjp.4	Q8NEV1	OTTHUMG00000165708	ENST00000528848.2:c.210C>A	11.37:g.11374457G>T						RP11-567I13.1_ENST00000526867.1_RNA|GALNT18_ENST00000227756.4_Intron	p.L70L	NM_001256686.1	NP_001243615.1					1	447	-									Silent	SNP	ENST00000528848.2	37	c.210C>A	CCDS59224.1																																																																																				0.358	CSNK2A3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385850.3	NM_001256686		30	611	1	0	3.86903e-22	7.24521e-05	5.73156e-20	30	611				
CDCA2	157313	broad.mit.edu	37	8	25319666	25319666	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr8:25319666G>T	ENST00000330560.3	+	4	806	c.329G>T	c.(328-330)cGg>cTg	p.R110L	CDCA2_ENST00000380665.3_Missense_Mutation_p.R95L	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	110					mitotic nuclear division (GO:0007067)|positive regulation of protein dephosphorylation (GO:0035307)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		TTCATTGCTCGGCAGCAAAAT	0.423																																						ENST00000330560.3																			0				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35						c.(328-330)cGg>cTg		cell division cycle associated 2							95.0	96.0	96.0					8																	25319666		2203	4300	6503	SO:0001583	missense	157313				cell division|mitosis	cytoplasm|nucleus		g.chr8:25319666G>T	BG354575	CCDS6049.1	8p21.2	2014-06-12			ENSG00000184661	ENSG00000184661			14623	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 81"""					12188893, 16492807	Standard	NM_152562		Approved	Repo-Man, PPP1R81	uc003xep.1	Q69YH5	OTTHUMG00000099429	ENST00000330560.3:c.329G>T	8.37:g.25319666G>T	ENSP00000328228:p.Arg110Leu					CDCA2_ENST00000380665.3_Missense_Mutation_p.R95L	p.R110L	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)	4	806	+		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)	110					Q3SX74|Q4G0W0|Q5RKN0|Q69YI4|Q6P464|Q8N7C1	Missense_Mutation	SNP	ENST00000330560.3	37	c.329G>T	CCDS6049.1	.	.	.	.	.	.	.	.	.	.	G	14.73	2.621391	0.46736	.	.	ENSG00000184661	ENST00000330560;ENST00000380665	T;T	0.34072	1.38;1.38	5.4	4.14	0.48551	.	0.389705	0.20703	N	0.087238	T	0.25644	0.0624	L	0.29908	0.895	0.32580	N	0.528554	B;B;B	0.23937	0.094;0.043;0.043	B;B;B	0.20384	0.018;0.029;0.029	T	0.25606	-1.0127	10	0.66056	D	0.02	-5.2524	8.0077	0.30334	0.9055:0.0:0.0945:0.0	.	110;95;110	B7Z5Q5;E9PEI0;Q69YH5	.;.;CDCA2_HUMAN	L	110;95	ENSP00000328228:R110L;ENSP00000370040:R95L	ENSP00000328228:R110L	R	+	2	0	CDCA2	25375583	1.000000	0.71417	1.000000	0.80357	0.737000	0.42083	2.167000	0.42415	0.864000	0.35578	-0.657000	0.03884	CGG		0.423	CDCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216891.3	NM_152562		18	666	1	0	7.07596e-05	7.07596e-05	0.00545608	18	666				
IQGAP3	128239	broad.mit.edu	37	1	156510545	156510545	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:156510545C>A	ENST00000361170.2	-	23	2704	c.2694G>T	c.(2692-2694)atG>atT	p.M898I	IQGAP3_ENST00000498755.1_5'Flank	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	898					activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCTTGATGTCCATGATGTTGA	0.562																																						ENST00000361170.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75						c.(2692-2694)atG>atT		IQ motif containing GTPase activating protein 3							174.0	127.0	143.0					1																	156510545		2203	4300	6503	SO:0001583	missense	128239				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity	g.chr1:156510545C>A	AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.2694G>T	1.37:g.156510545C>A	ENSP00000354451:p.Met898Ile						p.M898I	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN			23	2704	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		898					Q5T3H8	Missense_Mutation	SNP	ENST00000361170.2	37	c.2694G>T	CCDS1144.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.737875	0.89573	.	.	ENSG00000183856	ENST00000361170	T	0.03035	4.07	4.8	4.8	0.61643	.	0.046269	0.85682	D	0.000000	T	0.13072	0.0317	M	0.86740	2.835	0.80722	D	1	P	0.50528	0.936	P	0.61201	0.885	T	0.00238	-1.1889	10	0.72032	D	0.01	-21.3897	15.4029	0.74855	0.0:1.0:0.0:0.0	.	898	Q86VI3	IQGA3_HUMAN	I	898	ENSP00000354451:M898I	ENSP00000354451:M898I	M	-	3	0	IQGAP3	154777169	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.647000	0.83462	2.483000	0.83821	0.655000	0.94253	ATG		0.562	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229		9	425	1	0	3.86212e-05	3.86212e-05	0.00332401	9	425				
EFCAB6	64800	broad.mit.edu	37	22	44127685	44127685	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr22:44127685C>A	ENST00000262726.7	-	8	904	c.651G>T	c.(649-651)tcG>tcT	p.S217S	EFCAB6_ENST00000396231.2_Silent_p.S65S|EFCAB6_ENST00000358439.4_Silent_p.S111S|EFCAB6_ENST00000356087.4_Silent_p.S111S	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	217					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TGTAGTGTTTCGAAAACCTAA	0.333																																						ENST00000262726.7																			0				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(649-651)tcG>tcT		EF-hand calcium binding domain 6							110.0	101.0	104.0					22																	44127685		2202	4299	6501	SO:0001819	synonymous_variant	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:44127685C>A	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.651G>T	22.37:g.44127685C>A						EFCAB6_ENST00000358439.4_Silent_p.S111S|EFCAB6_ENST00000356087.4_Silent_p.S111S|EFCAB6_ENST00000396231.2_Silent_p.S65S	p.S217S	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN			8	904	-		Ovarian(80;0.0247)|all_neural(38;0.025)	217					A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Silent	SNP	ENST00000262726.7	37	c.651G>T	CCDS14049.1																																																																																				0.333	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785		13	579	1	0	1.49906e-05	1.49906e-05	0.00153956	13	579				
HMCN1	83872	broad.mit.edu	37	1	185833685	185833685	+	Silent	SNP	T	T	G			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:185833685T>G	ENST00000271588.4	+	3	652	c.423T>G	c.(421-423)gtT>gtG	p.V141V	HMCN1_ENST00000367492.2_Silent_p.V141V	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	141	VWFA.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TCATCTATGTTTTCACTGATG	0.438																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(421-423)gtT>gtG		hemicentin 1							122.0	115.0	117.0					1																	185833685		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185833685T>G	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.423T>G	1.37:g.185833685T>G						HMCN1_ENST00000367492.2_Silent_p.V141V	p.V141V	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			3	652	+			141			VWFA.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.423T>G	CCDS30956.1																																																																																				0.438	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		5	314	0	0	0	1.23904e-05	0	5	314				
RPS6KA6	27330	broad.mit.edu	37	X	83372157	83372157	+	Splice_Site	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chrX:83372157C>A	ENST00000262752.2	-	11	868		c.e11-1		RPS6KA6_ENST00000543399.1_Splice_Site	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6						axon guidance (GO:0007411)|central nervous system development (GO:0007417)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation of embryonic development (GO:0045992)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of mesoderm development (GO:2000381)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						AAGTTTTGCTCTGAAACAGAG	0.323																																						ENST00000262752.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						c.e11-1		ribosomal protein S6 kinase, 90kDa, polypeptide 6							42.0	40.0	41.0					X																	83372157		2202	4294	6496	SO:0001630	splice_region_variant	27330				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:83372157C>A	AF184965	CCDS14451.1	Xq21.1	2011-04-05	2002-08-29		ENSG00000072133	ENSG00000072133			10435	protein-coding gene	gene with protein product		300303	"""ribosomal protein S6 kinase, 90kD, polypeptide 6"""			10644430	Standard	NM_014496		Approved	RSK4	uc004eej.2	Q9UK32	OTTHUMG00000021923	ENST00000262752.2:c.861-1G>T	X.37:g.83372157C>A						RPS6KA6_ENST00000543399.1_Splice_Site		NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN			11	868	-								B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Splice_Site	SNP	ENST00000262752.2	37		CCDS14451.1	.	.	.	.	.	.	.	.	.	.	C	19.66	3.869083	0.72065	.	.	ENSG00000072133	ENST00000262752;ENST00000543399	.	.	.	4.64	4.64	0.57946	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0306	0.86460	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RPS6KA6	83258813	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	7.552000	0.82192	2.028000	0.59812	0.600000	0.82982	.		0.323	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057372.1	NM_014496	Intron	6	219	1	0	0.000157383	0.000157383	0.00973904	6	219				
TPTE2	93492	broad.mit.edu	37	13	20056686	20056686	+	Splice_Site	SNP	T	T	C	rs201542496		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr13:20056686T>C	ENST00000400230.2	-	4	165	c.121A>G	c.(121-123)Atg>Gtg	p.M41V	TPTE2_ENST00000457266.2_Splice_Site_p.M41V|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000400103.2_Splice_Site_p.M41V|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000382978.1_Splice_Site_p.M41V|TPTE2_ENST00000382977.4_Splice_Site_p.M41V|TPTE2_ENST00000382975.4_Splice_Site_p.M41V			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	41					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		CGTTCTAACATACTTTAGCCA	0.313																																						ENST00000400230.2																			0				NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.e4-1		transmembrane phosphoinositide 3-phosphatase and tensin homolog 2							47.0	46.0	47.0					13																	20056686		2202	4298	6500	SO:0001630	splice_region_variant	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20056686T>C	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.120-1A>G	13.37:g.20056686T>C						TPTE2_ENST00000382978.1_Splice_Site_p.M41_splice|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000400103.2_Splice_Site_p.M41_splice|TPTE2_ENST00000457266.2_Splice_Site_p.M41_splice|TPTE2_ENST00000382977.4_Splice_Site_p.M41_splice|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000382975.4_Splice_Site_p.M41_splice	p.M41_splice			Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	4	165	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	41					A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Splice_Site	SNP	ENST00000400230.2	37	c.119_splice	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	T	0	-2.805163	0.00075	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548	D;D;D;D;D;D	0.94376	-3.41;-3.33;-3.28;-3.28;-3.41;-3.33	2.06	0.838	0.18902	.	0.589765	0.15086	U	0.281346	D	0.83399	0.5246	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.68424	-0.5412	9	.	.	.	0.2742	3.9369	0.09310	0.0:0.1886:0.0:0.8114	.	41;41	A8MX64;Q6XPS3	.;TPTE2_HUMAN	V	41	ENSP00000372438:M41V;ENSP00000382974:M41V;ENSP00000383089:M41V;ENSP00000372437:M41V;ENSP00000372435:M41V;ENSP00000442218:M41V	.	M	-	1	0	TPTE2	18954686	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-0.105000	0.10907	0.235000	0.21160	0.383000	0.25322	ATG		0.313	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254	Missense_Mutation	7	404	0	0	0	6.40141e-05	0	7	404				
CST11	140880	broad.mit.edu	37	20	23433311	23433311	+	Missense_Mutation	SNP	G	G	C			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr20:23433311G>C	ENST00000377009.3	-	1	171	c.138C>G	c.(136-138)gaC>gaG	p.D46E	CST11_ENST00000377007.3_Missense_Mutation_p.D46E	NM_130794.1	NP_570612.1	Q9H112	CST11_HUMAN	cystatin 11	46					defense response to bacterium (GO:0042742)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			kidney(2)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	14	Colorectal(13;0.0431)|Lung NSC(19;0.235)					ACTGCAAGCTGTCCTTCGCAT	0.473																																						ENST00000377009.3																			0				kidney(2)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	14						c.(136-138)gaC>gaG		cystatin 11							211.0	184.0	193.0					20																	23433311		2203	4300	6503	SO:0001583	missense	140880				defense response to bacterium	cytoplasm|nucleus	cysteine-type endopeptidase inhibitor activity	g.chr20:23433311G>C	AL096677	CCDS13154.1, CCDS13155.1	20p11.21	2012-08-14			ENSG00000125831	ENSG00000125831			15959	protein-coding gene	gene with protein product		609731		CST8L		20565543	Standard	NM_080830		Approved	dJ322G13.6, CTES2	uc002wtf.1	Q9H112	OTTHUMG00000032060	ENST00000377009.3:c.138C>G	20.37:g.23433311G>C	ENSP00000366208:p.Asp46Glu					CST11_ENST00000377007.3_Missense_Mutation_p.D46E	p.D46E	NM_130794.1	NP_570612.1	Q9H112	CST11_HUMAN			1	171	-	Colorectal(13;0.0431)|Lung NSC(19;0.235)		46					Q0VAF2|Q0VAF3|Q8WXU5|Q8WXU6|Q9H113	Missense_Mutation	SNP	ENST00000377009.3	37	c.138C>G	CCDS13155.1	.	.	.	.	.	.	.	.	.	.	G	0.034	-1.315401	0.01331	.	.	ENSG00000125831	ENST00000377009;ENST00000377007	T;T	0.20881	2.04;2.04	3.86	-7.72	0.01250	Proteinase inhibitor I25, cystatin (2);	1.801240	0.02192	N	0.061416	T	0.07188	0.0182	N	0.12182	0.205	0.09310	N	1	B;B	0.14805	0.009;0.011	B;B	0.18871	0.023;0.022	T	0.32903	-0.9889	10	0.02654	T	1	-0.6315	0.5297	0.00626	0.3409:0.2761:0.1774:0.2056	.	46;46	Q9H112-2;Q9H112	.;CST11_HUMAN	E	46	ENSP00000366208:D46E;ENSP00000366206:D46E	ENSP00000366206:D46E	D	-	3	2	CST11	23381311	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.747000	0.04823	-1.825000	0.01207	-0.142000	0.14014	GAC		0.473	CST11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078314.1	NM_130794		10	733	0	0	0	6.40141e-05	0	10	733				
PPP2R5E	5529	broad.mit.edu	37	14	63881941	63881941	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr14:63881941C>A	ENST00000337537.3	-	5	1068	c.466G>T	c.(466-468)Gaa>Taa	p.E156*	PPP2R5E_ENST00000422769.2_Nonsense_Mutation_p.E80*|PPP2R5E_ENST00000553266.1_5'UTR|PPP2R5E_ENST00000555899.1_Nonsense_Mutation_p.E156*	NM_001282179.1|NM_001282180.1|NM_001282181.1|NM_001282182.1|NM_006246.2	NP_001269108.1|NP_001269109.1|NP_001269110.1|NP_001269111.1|NP_006237.1	Q16537	2A5E_HUMAN	protein phosphatase 2, regulatory subunit B', epsilon isoform	156					regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		ATGAAAAATTCATATACAAGC	0.308																																						ENST00000337537.3																			0				endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15						c.(466-468)Gaa>Taa		protein phosphatase 2, regulatory subunit B', epsilon isoform							71.0	74.0	73.0					14																	63881941		2202	4295	6497	SO:0001587	stop_gained	5529				signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr14:63881941C>A	L76703	CCDS9758.1, CCDS61467.1, CCDS61468.1	14q23.2	2010-06-18	2007-01-22		ENSG00000154001	ENSG00000154001		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9313	protein-coding gene	gene with protein product		601647	"""protein phosphatase 2, regulatory subunit B (B56), epsilon isoform"""			7592815	Standard	NM_006246		Approved		uc001xgd.1	Q16537	OTTHUMG00000140341	ENST00000337537.3:c.466G>T	14.37:g.63881941C>A	ENSP00000337641:p.Glu156*					PPP2R5E_ENST00000553266.1_5'UTR|PPP2R5E_ENST00000422769.2_Nonsense_Mutation_p.E80*|PPP2R5E_ENST00000555899.1_Nonsense_Mutation_p.E156*	p.E156*	NM_006246.2	NP_006237.1	Q16537	2A5E_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)	5	1068	-			156					A4FU37|B7ZAW5|B7ZKK8|B7ZKK9|J3KQN6|Q52LW4	Nonsense_Mutation	SNP	ENST00000337537.3	37	c.466G>T	CCDS9758.1	.	.	.	.	.	.	.	.	.	.	C	43	10.299674	0.99378	.	.	ENSG00000154001	ENST00000337537;ENST00000555899;ENST00000422769	.	.	.	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-6.5843	18.2575	0.90024	0.0:1.0:0.0:0.0	.	.	.	.	X	156;156;80	.	ENSP00000337641:E156X	E	-	1	0	PPP2R5E	62951694	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.746000	0.85057	2.664000	0.90586	0.650000	0.86243	GAA		0.308	PPP2R5E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276973.1	NM_006246		17	620	1	0	8.00594e-06	9.7654e-05	0.000889496	17	620				
ZBP1	81030	broad.mit.edu	37	20	56189968	56189968	+	Silent	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr20:56189968G>T	ENST00000371173.3	-	4	654	c.477C>A	c.(475-477)tcC>tcA	p.S159S	ZBP1_ENST00000538947.1_5'Flank|ZBP1_ENST00000395822.3_Silent_p.S84S|ZBP1_ENST00000541799.1_Silent_p.S159S|ZBP1_ENST00000340462.4_Silent_p.S136S|ZBP1_ENST00000343535.4_Silent_p.S159S	NM_001160417.1|NM_030776.2	NP_001153889.1|NP_110403.2	Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	159					innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|left-handed Z-DNA binding (GO:0003692)|RNA binding (GO:0003723)			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			TCCATGCTTTGGACTGCTCAT	0.557																																						ENST00000340462.4																			0				large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27						c.(406-408)tcC>tcA		Z-DNA binding protein 1							194.0	152.0	166.0					20																	56189968		2203	4300	6503	SO:0001819	synonymous_variant	81030					cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding	g.chr20:56189968G>T	AJ300575	CCDS13461.1, CCDS54477.1, CCDS54478.1	20q13.31	2009-08-21	2002-07-25	2002-07-26	ENSG00000124256	ENSG00000124256			16176	protein-coding gene	gene with protein product	"""DNA-dependent activator of IRFs"""	606750	"""chromosome 20 open reading frame 183"""	C20orf183		11842111	Standard	NM_030776		Approved	dJ718J7.3, DLM1, DLM-1, DAI	uc002xyo.3	Q9H171	OTTHUMG00000032824	ENST00000371173.3:c.477C>A	20.37:g.56189968G>T						ZBP1_ENST00000343535.4_Silent_p.S159S|ZBP1_ENST00000541799.1_Silent_p.S159S|ZBP1_ENST00000371173.3_Silent_p.S159S|ZBP1_ENST00000395822.3_Silent_p.S84S	p.S136S			Q9H171	ZBP1_HUMAN	BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)		3	688	-	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		159					A2A2F7|B3KVA1|F5GYT1|Q5JY39|Q9BYW4	Silent	SNP	ENST00000371173.3	37	c.408C>A	CCDS13461.1																																																																																				0.557	ZBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079849.1	NM_030776		10	732	1	0	0.000151284	0.000151284	0.00973904	10	732				
LOC645752	645752	broad.mit.edu	37	15	78211517	78211517	+	lincRNA	SNP	C	C	G			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr15:78211517C>G	ENST00000565869.1	+	0	111				RN7SL214P_ENST00000487317.2_RNA|RP11-114H24.2_ENST00000567226.1_RNA																							TTGCTCAGGACACTCAAGGCC	0.557																																						ENST00000565869.1																			0																																																			0							g.chr15:78211517C>G																													15.37:g.78211517C>G						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.557	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			9	714	0	0	0	2.17888e-05	0	9	714				
MYO18B	84700	broad.mit.edu	37	22	26219559	26219559	+	Missense_Mutation	SNP	C	C	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr22:26219559C>T	ENST00000407587.2	+	13	2778	c.2609C>T	c.(2608-2610)aCc>aTc	p.T870I	MYO18B_ENST00000536101.1_Missense_Mutation_p.T870I|MYO18B_ENST00000335473.7_Missense_Mutation_p.T870I			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	870	Myosin motor.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.T870I(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AACACGGCCACCTTCAAGCAC	0.577																																						ENST00000335473.7																			1	Substitution - Missense(1)	p.T870I(1)	prostate(1)	NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(2608-2610)aCc>aTc		myosin XVIIIB							167.0	166.0	167.0					22																	26219559		2100	4218	6318	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26219559C>T	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.2609C>T	22.37:g.26219559C>T	ENSP00000386096:p.Thr870Ile					MYO18B_ENST00000407587.2_Missense_Mutation_p.T870I|MYO18B_ENST00000536101.1_Missense_Mutation_p.T870I	p.T870I	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN			13	2859	+			870			Myosin head-like.		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.2609C>T		.	.	.	.	.	.	.	.	.	.	C	13.11	2.139738	0.37728	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	T;T;T	0.69040	-0.37;-0.37;-0.37	4.73	3.47	0.39725	Myosin head, motor domain (2);	0.306844	0.29932	N	0.010821	T	0.54806	0.1881	L	0.28776	0.89	0.34621	D	0.718623	P;D;P;D	0.54207	0.708;0.965;0.946;0.957	B;P;P;P	0.52217	0.249;0.693;0.462;0.567	T	0.58864	-0.7561	10	0.13108	T	0.6	.	4.1753	0.10349	0.0:0.6771:0.0:0.3229	.	383;870;870;870	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	I	870	ENSP00000441229:T870I;ENSP00000334563:T870I;ENSP00000386096:T870I	ENSP00000334563:T870I	T	+	2	0	MYO18B	24549559	1.000000	0.71417	1.000000	0.80357	0.670000	0.39368	4.574000	0.60900	2.327000	0.79052	0.448000	0.29417	ACC		0.577	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		194	539	0	0	0	0.000147903	0	194	539				
ADH1A	124	broad.mit.edu	37	4	100203666	100203666	+	Missense_Mutation	SNP	G	G	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr4:100203666G>A	ENST00000209668.2	-	6	778	c.665C>T	c.(664-666)gCg>gTg	p.A222V	RP11-696N14.1_ENST00000506160.1_RNA|RP11-696N14.1_ENST00000500358.2_RNA	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide	222					alcohol metabolic process (GO:0006066)|drug metabolic process (GO:0017144)|ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Ethanol(DB00898)|Fomepizole(DB01213)	GATGTCCACCGCAATGATTCT	0.532																																						ENST00000209668.2																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25						c.(664-666)gCg>gTg		alcohol dehydrogenase 1A (class I), alpha polypeptide	Fomepizole(DB01213)|NADH(DB00157)						286.0	289.0	288.0					4																	100203666		2203	4300	6503	SO:0001583	missense	124				ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding	g.chr4:100203666G>A	M12963	CCDS3648.1	4q23	2009-12-04			ENSG00000187758	ENSG00000187758	1.1.1.1	"""Alcohol dehydrogenases"""	249	protein-coding gene	gene with protein product		103700		ADH1		3006456	Standard	NM_000667		Approved		uc003hur.2	P07327	OTTHUMG00000131026	ENST00000209668.2:c.665C>T	4.37:g.100203666G>A	ENSP00000209668:p.Ala222Val					RP11-696N14.1_ENST00000500358.2_RNA	p.A222V	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	6	778	-			222					A8K3E3|Q17R68	Missense_Mutation	SNP	ENST00000209668.2	37	c.665C>T	CCDS3648.1	.	.	.	.	.	.	.	.	.	.	G	11.27	1.588433	0.28357	.	.	ENSG00000187758	ENST00000209668	T	0.04970	3.52	3.11	-0.519	0.11939	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.245941	0.39146	N	0.001456	T	0.19446	0.0467	M	0.74881	2.28	0.27511	N	0.951696	P;D	0.76494	0.877;0.999	B;P	0.60541	0.175;0.876	T	0.10405	-1.0631	10	0.59425	D	0.04	-7.6741	15.9733	0.80036	0.0:0.6313:0.3687:0.0	.	13;222	B4E1R1;P07327	.;ADH1A_HUMAN	V	222	ENSP00000209668:A222V	ENSP00000209668:A222V	A	-	2	0	ADH1A	100422689	0.001000	0.12720	0.529000	0.27951	0.148000	0.21650	-0.192000	0.09587	0.061000	0.16311	0.460000	0.39030	GCG		0.532	ADH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253669.1	NM_000667		32	1421	0	0	0	7.16444e-05	0	32	1421				
ZC3H15	55854	broad.mit.edu	37	2	187370558	187370558	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:187370558G>T	ENST00000337859.6	+	8	1183	c.956G>T	c.(955-957)gGt>gTt	p.G319V	ZC3H15_ENST00000544130.1_Missense_Mutation_p.G114V	NM_018471.2	NP_060941.2	Q8WU90	ZC3HF_HUMAN	zinc finger CCCH-type containing 15	319					cytokine-mediated signaling pathway (GO:0019221)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)			CAGGGAACAGGTGGTGATGAG	0.428																																						ENST00000337859.6																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	15						c.(955-957)gGt>gTt		zinc finger CCCH-type containing 15							105.0	99.0	101.0					2																	187370558		2021	4174	6195	SO:0001583	missense	55854					cytoplasm|nucleolus|plasma membrane	nucleic acid binding|zinc ion binding	g.chr2:187370558G>T		CCDS42791.1	2q32.1	2012-07-05			ENSG00000065548	ENSG00000065548		"""Zinc fingers, CCCH-type domain containing"""	29528	protein-coding gene	gene with protein product	"""likely ortholog of mouse immediate early response, erythropoietin 4"""					10880228	Standard	NM_018471		Approved	LEREPO4	uc002upo.3	Q8WU90	OTTHUMG00000154251	ENST00000337859.6:c.956G>T	2.37:g.187370558G>T	ENSP00000338788:p.Gly319Val					ZC3H15_ENST00000544130.1_Missense_Mutation_p.G114V	p.G319V	NM_018471.2	NP_060941.2	Q8WU90	ZC3HF_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)		8	1183	+			319					B4DMW2|D3DPG7|Q5QTQ4|Q8WZ06|Q9NUZ3|Q9NZ37|Q9P079	Missense_Mutation	SNP	ENST00000337859.6	37	c.956G>T	CCDS42791.1	.	.	.	.	.	.	.	.	.	.	G	12.75	2.032400	0.35893	.	.	ENSG00000065548	ENST00000337859;ENST00000544130;ENST00000536434	T	0.29917	1.55	5.87	5.87	0.94306	.	0.478557	0.25823	N	0.028075	T	0.21022	0.0506	N	0.22421	0.69	0.50632	D	0.999884	B	0.33583	0.418	B	0.32393	0.145	T	0.04635	-1.0937	10	0.22706	T	0.39	-16.981	13.7487	0.62894	0.0701:0.0:0.9299:0.0	.	319	Q8WU90	ZC3HF_HUMAN	V	319;114;319	ENSP00000338788:G319V	ENSP00000338788:G319V	G	+	2	0	ZC3H15	187078803	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.103000	0.64578	2.941000	0.99782	0.655000	0.94253	GGT		0.428	ZC3H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334547.2	NM_018471		14	181	1	0	3.27435e-08	1.49906e-05	4.6263e-06	14	181				
MUC4	4585	broad.mit.edu	37	3	195515435	195515435	+	Missense_Mutation	SNP	C	C	T	rs199540819	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:195515435C>T	ENST00000463781.3	-	2	3475	c.3016G>A	c.(3016-3018)Gcc>Acc	p.A1006T	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.A1006T|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	430	Repeat.|Ser-rich.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.A1006T(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGAGGGGTGGCGTGACCTGTG	0.582													.|||	29	0.00579073	0.0038	0.0202	5008	,	,		20547	0.002		0.006	False		,,,				2504	0.002					ENST00000463781.3																			2	Substitution - Missense(2)	p.A1006T(2)	endometrium(1)|kidney(1)	NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(3016-3018)Gcc>Acc		mucin 4, cell surface associated							71.0	43.0	51.0					3																	195515435		692	1591	2283	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195515435C>T	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.3016G>A	3.37:g.195515435C>T	ENSP00000417498:p.Ala1006Thr					MUC4_ENST00000475231.1_Missense_Mutation_p.A1006T|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	p.A1006T	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	3475	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	1008			Repeat.|Ser-rich.		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.3016G>A	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	T	9.628	1.135729	0.21123	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.36699	1.25;1.24	1.24	-2.49	0.06403	.	.	.	.	.	T	0.15305	0.0369	N	0.14661	0.345	0.09310	N	1	B	0.14805	0.011	B	0.01281	0.0	T	0.23154	-1.0196	8	.	.	.	.	2.3206	0.04209	0.2815:0.1916:0.0:0.5269	.	1006	E7ESK3	.	T	1006	ENSP00000417498:A1006T;ENSP00000420243:A1006T	.	A	-	1	0	MUC4	196999830	.	.	0.001000	0.08648	0.173000	0.22820	.	.	-0.641000	0.05487	0.064000	0.15345	GCC		0.582	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		8	37	0	0	0	2.17888e-05	0	8	37				
BIRC6	57448	broad.mit.edu	37	2	32613902	32613902	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:32613902C>A	ENST00000421745.2	+	4	864	c.730C>A	c.(730-732)Caa>Aaa	p.Q244K		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	244					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GAAAATAAATCAAAATGTTGC	0.463																																					Pancreas(94;175 1509 16028 18060 45422)	ENST00000421745.2																			0				NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172						c.(730-732)Caa>Aaa		baculoviral IAP repeat containing 6							151.0	128.0	136.0					2																	32613902		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32613902C>A	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.730C>A	2.37:g.32613902C>A	ENSP00000393596:p.Gln244Lys						p.Q244K	NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN			4	864	+	Acute lymphoblastic leukemia(172;0.155)		244					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.730C>A	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	C	20.3	3.970684	0.74246	.	.	ENSG00000115760	ENST00000421745	T	0.74002	-0.8	5.75	5.75	0.90469	.	0.066156	0.64402	D	0.000009	T	0.67163	0.2864	L	0.34521	1.04	0.58432	D	0.999999	P	0.48764	0.915	B	0.40940	0.344	T	0.65903	-0.6055	10	0.29301	T	0.29	.	19.9498	0.97195	0.0:1.0:0.0:0.0	.	244	Q9NR09	BIRC6_HUMAN	K	244	ENSP00000393596:Q244K	ENSP00000393596:Q244K	Q	+	1	0	BIRC6	32467406	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.770000	0.85390	2.715000	0.92844	0.650000	0.86243	CAA		0.463	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		9	255	1	0	6.40141e-05	6.40141e-05	0.00496729	9	255				
AVL9	23080	broad.mit.edu	37	7	32615681	32615681	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr7:32615681C>A	ENST00000318709.4	+	13	1906	c.1685C>A	c.(1684-1686)cCa>cAa	p.P562Q	AVL9_ENST00000404479.1_Intron|AVL9_ENST00000409301.1_Missense_Mutation_p.P562Q	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	562					cell migration (GO:0016477)	integral component of membrane (GO:0016021)|recycling endosome (GO:0055037)				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						GAAATAAATCCAAAGTAAGCG	0.378																																						ENST00000318709.4																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(1684-1686)cCa>cAa		AVL9 homolog (S. cerevisiase)							128.0	124.0	125.0					7																	32615681		2203	4300	6503	SO:0001583	missense	23080					integral to membrane		g.chr7:32615681C>A	D87682	CCDS34613.1	7p14.3	2013-05-01	2008-10-03	2008-10-03	ENSG00000105778	ENSG00000105778			28994	protein-coding gene	gene with protein product		612927	"""KIAA0241"""	KIAA0241		17229886, 22595670	Standard	XM_005249668		Approved		uc003tcv.1	Q8NBF6	OTTHUMG00000152929	ENST00000318709.4:c.1685C>A	7.37:g.32615681C>A	ENSP00000315568:p.Pro562Gln					AVL9_ENST00000404479.1_Intron|AVL9_ENST00000409301.1_Missense_Mutation_p.P562Q	p.P562Q	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN			13	1906	+			562					Q92573	Missense_Mutation	SNP	ENST00000318709.4	37	c.1685C>A	CCDS34613.1	.	.	.	.	.	.	.	.	.	.	C	33	5.252531	0.95336	.	.	ENSG00000105778	ENST00000318709;ENST00000409301	T;T	0.54279	0.58;0.6	5.73	5.73	0.89815	.	0.055360	0.64402	D	0.000001	T	0.64702	0.2622	M	0.73217	2.22	0.80722	D	1	D	0.57899	0.981	P	0.49752	0.621	T	0.68697	-0.5340	10	0.72032	D	0.01	-21.0103	19.904	0.97001	0.0:1.0:0.0:0.0	.	562	Q8NBF6	AVL9_HUMAN	Q	562	ENSP00000315568:P562Q;ENSP00000387011:P562Q	ENSP00000315568:P562Q	P	+	2	0	AVL9	32582206	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	7.521000	0.81832	2.689000	0.91719	0.655000	0.94253	CCA		0.378	AVL9-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328643.1	NM_015060		7	609	1	0	5.18039e-06	0.000157383	0.000614681	7	609				
ATP10A	57194	broad.mit.edu	37	15	25928570	25928570	+	Missense_Mutation	SNP	C	C	G			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr15:25928570C>G	ENST00000356865.6	-	17	3466	c.3355G>C	c.(3355-3357)Gac>Cac	p.D1119H		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1119					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TACCACTGGTCAATCATGGTA	0.502																																						ENST00000356865.6																			0				NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103						c.(3355-3357)Gac>Cac		ATPase, class V, type 10A							83.0	81.0	81.0					15																	25928570		2203	4300	6503	SO:0001583	missense	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25928570C>G	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.3355G>C	15.37:g.25928570C>G	ENSP00000349325:p.Asp1119His						p.D1119H	NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	17	3466	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	1119					Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	c.3355G>C	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.693762	0.88735	.	.	ENSG00000206190	ENST00000356865	T	0.42131	0.98	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.74861	0.3772	H	0.94658	3.565	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.83740	0.0203	10	0.87932	D	0	-36.8332	17.8828	0.88845	0.0:1.0:0.0:0.0	.	1119	O60312	AT10A_HUMAN	H	1119	ENSP00000349325:D1119H	ENSP00000349325:D1119H	D	-	1	0	ATP10A	23479663	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	7.511000	0.81718	2.205000	0.71048	0.655000	0.94253	GAC		0.502	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		5	202	0	0	0	1.23904e-05	0	5	202				
CRIM1	51232	broad.mit.edu	37	2	36669819	36669819	+	Silent	SNP	G	G	T	rs200502210		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:36669819G>T	ENST00000280527.2	+	4	1177	c.810G>T	c.(808-810)ccG>ccT	p.P270P		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	270					insulin-like growth factor receptor signaling pathway (GO:0048009)|nervous system development (GO:0007399)|regulation of cell growth (GO:0001558)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	insulin-like growth factor-activated receptor activity (GO:0005010)|PDZ domain binding (GO:0030165)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				CGTGTCCCCCGGACAGCTATG	0.478																																						ENST00000280527.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45						c.(808-810)ccG>ccT		cysteine rich transmembrane BMP regulator 1 (chordin-like)							169.0	149.0	156.0					2																	36669819		2203	4300	6503	SO:0001819	synonymous_variant	51232				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity	g.chr2:36669819G>T	AF168681	CCDS1783.1	2p21	2010-06-29	2005-07-25		ENSG00000150938	ENSG00000150938			2359	protein-coding gene	gene with protein product		606189	"""cysteine-rich motor neuron 1"""	S52		10642437	Standard	NM_016441		Approved		uc002rpd.3	Q9NZV1	OTTHUMG00000099419	ENST00000280527.2:c.810G>T	2.37:g.36669819G>T							p.P270P	NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN			4	1177	+		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)	270					Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	Silent	SNP	ENST00000280527.2	37	c.810G>T	CCDS1783.1																																																																																				0.478	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216878.2	NM_016441		9	796	1	0	1.12685e-05	1.12685e-05	0.00119236	9	796				
PRG4	10216	broad.mit.edu	37	1	186276451	186276451	+	Missense_Mutation	SNP	A	A	C	rs549460989	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:186276451A>C	ENST00000445192.2	+	7	1645	c.1600A>C	c.(1600-1602)Acc>Ccc	p.T534P	PRG4_ENST00000367483.4_Missense_Mutation_p.T493P|PRG4_ENST00000367485.4_Missense_Mutation_p.T441P|PRG4_ENST00000367486.3_Missense_Mutation_p.T491P|PRG4_ENST00000367484.3_Intron	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	534	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ACCCACCACTACCAAGGAGCC	0.632													-|||	19	0.00379393	0.0023	0.0043	5008	,	,		6988	0.004		0.005	False		,,,				2504	0.0041					ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1600-1602)Acc>Ccc		proteoglycan 4							135.0	121.0	126.0					1																	186276451		2203	4298	6501	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276451A>C	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1600A>C	1.37:g.186276451A>C	ENSP00000399679:p.Thr534Pro					PRG4_ENST00000367485.4_Missense_Mutation_p.T441P|PRG4_ENST00000367483.4_Missense_Mutation_p.T493P|PRG4_ENST00000367486.3_Missense_Mutation_p.T491P|PRG4_ENST00000367484.3_Intron	p.T534P	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1645	+			534			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.1600A>C	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	a	3.488	-0.104447	0.06967	.	.	ENSG00000116690	ENST00000367486;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T	0.05382	3.47;3.58;3.45;3.54	2.94	-5.88	0.02290	.	.	.	.	.	T	0.02380	0.0073	N	0.02916	-0.46	0.09310	N	0.999996	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.0;0.001	T	0.46048	-0.9219	8	.	.	.	.	11.4218	0.49987	0.2019:0.69:0.0:0.1082	.	400;441;534;493	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	P	491;400;493;441;534	ENSP00000356456:T491P;ENSP00000356453:T493P;ENSP00000356455:T441P;ENSP00000399679:T534P	.	T	+	1	0	PRG4	184543074	.	.	0.000000	0.03702	0.000000	0.00434	.	.	-3.298000	0.00193	0.000000	0.15137	ACC		0.632	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		12	523	0	0	0	0.000147802	0	12	523				
PUS3	83480	broad.mit.edu	37	11	125766014	125766014	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr11:125766014C>A	ENST00000530811.1	-	1	211	c.166G>T	c.(166-168)Gat>Tat	p.D56Y	HYLS1_ENST00000356438.3_Intron|HYLS1_ENST00000425380.2_Intron|PUS3_ENST00000227474.3_Missense_Mutation_p.D56Y|HYLS1_ENST00000526028.1_Intron			Q9BZE2	PUS3_HUMAN	pseudouridylate synthase 3	56					tRNA pseudouridine synthesis (GO:0031119)	nucleus (GO:0005634)	pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			NS(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043)		GCACTGAAATCAAATGCACGC	0.433																																						ENST00000227474.3																			0				NS(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10						c.(166-168)Gat>Tat		pseudouridylate synthase 3							222.0	216.0	218.0					11																	125766014		2201	4299	6500	SO:0001583	missense	83480					nucleus	RNA binding	g.chr11:125766014C>A	BC004822	CCDS8466.1, CCDS73411.1	11q24.2	2008-02-05							25461	protein-coding gene	gene with protein product						12477932	Standard	NM_031307		Approved	FKSG32	uc001qcy.2	Q9BZE2		ENST00000530811.1:c.166G>T	11.37:g.125766014C>A	ENSP00000432386:p.Asp56Tyr					HYLS1_ENST00000425380.2_Intron|HYLS1_ENST00000526028.1_Intron|PUS3_ENST00000530811.1_Missense_Mutation_p.D56Y|HYLS1_ENST00000356438.3_Intron	p.D56Y	NM_001271985.1|NM_031307.3	NP_001258914.1|NP_112597.3	Q9BZE2	PUS3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043)	2	263	-	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)	56					B2RAM0|Q96D17|Q96J23|Q96NB4	Missense_Mutation	SNP	ENST00000530811.1	37	c.166G>T	CCDS8466.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.067535	0.76301	.	.	ENSG00000110060	ENST00000227474;ENST00000530811;ENST00000534158;ENST00000529801	T;T;T;T	0.61040	1.01;1.01;0.14;1.08	6.17	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.74619	0.3740	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.76280	-0.3017	10	0.87932	D	0	-16.7308	15.9972	0.80260	0.0:0.935:0.0:0.065	.	56	Q9BZE2	PUS3_HUMAN	Y	56	ENSP00000227474:D56Y;ENSP00000432386:D56Y;ENSP00000432272:D56Y;ENSP00000437077:D56Y	ENSP00000227474:D56Y	D	-	1	0	PUS3	125271224	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.462000	0.66707	2.941000	0.99782	0.655000	0.94253	GAT		0.433	PUS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386783.1	NM_031307		13	1011	1	0	0.000151284	0.000151284	0.00973904	13	1011				
CCDC88A	55704	broad.mit.edu	37	2	55570840	55570840	+	Nonsense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:55570840G>T	ENST00000436346.1	-	12	2118	c.1277C>A	c.(1276-1278)tCa>tAa	p.S426*	AC012358.8_ENST00000594078.1_RNA|CCDC88A_ENST00000263630.8_Nonsense_Mutation_p.S426*|CCDC88A_ENST00000413716.2_Nonsense_Mutation_p.S426*|CCDC88A_ENST00000336838.6_Nonsense_Mutation_p.S426*	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	426					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						AAGATGTAATGATTCATCCAT	0.318																																						ENST00000436346.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						c.(1276-1278)tCa>tAa		coiled-coil domain containing 88A							132.0	127.0	129.0					2																	55570840		2203	4300	6503	SO:0001587	stop_gained	55704				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	g.chr2:55570840G>T	AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.1277C>A	2.37:g.55570840G>T	ENSP00000410608:p.Ser426*					AC012358.8_ENST00000594078.1_RNA|CCDC88A_ENST00000336838.6_Nonsense_Mutation_p.S426*|CCDC88A_ENST00000413716.2_Nonsense_Mutation_p.S426*|CCDC88A_ENST00000263630.8_Nonsense_Mutation_p.S426*	p.S426*	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN			12	2118	-			426					A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Nonsense_Mutation	SNP	ENST00000436346.1	37	c.1277C>A		.	.	.	.	.	.	.	.	.	.	G	40	8.219217	0.98712	.	.	ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000413716	.	.	.	5.91	5.91	0.95273	.	0.000000	0.39475	U	0.001343	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.3066	20.3011	0.98612	0.0:0.0:1.0:0.0	.	.	.	.	X	426	.	ENSP00000263630:S426X	S	-	2	0	CCDC88A	55424344	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.378000	0.97191	2.804000	0.96469	0.650000	0.86243	TCA		0.318	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571		12	503	1	0	0.000151284	0.000151284	0.00973904	12	503				
KRTAP5-10	387273	broad.mit.edu	37	11	71276891	71276891	+	Silent	SNP	C	C	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr11:71276891C>T	ENST00000398531.1	+	1	283	c.258C>T	c.(256-258)tcC>tcT	p.S86S	KRTAP5-10_ENST00000376536.4_Intron	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	86	7 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						GCTGTGGTTCCTGTGGGGGCT	0.687																																						ENST00000398531.1																			0				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						c.(256-258)tcC>tcT		keratin associated protein 5-10							42.0	61.0	55.0					11																	71276891		2095	4231	6326	SO:0001819	synonymous_variant	387273					keratin filament		g.chr11:71276891C>T	AB126079	CCDS41684.1	11q13.4	2008-02-05			ENSG00000204572	ENSG00000204572		"""Keratin associated proteins"""	23605	protein-coding gene	gene with protein product						15144888	Standard	NM_001012710		Approved	KRTAP5.10	uc001oqt.1	Q6L8G5	OTTHUMG00000057585	ENST00000398531.1:c.258C>T	11.37:g.71276891C>T						KRTAP5-10_ENST00000376536.4_Intron	p.S86S	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN			1	283	+			86			7 X 4 AA repeats of C-C-X-P.		B9EHA4	Silent	SNP	ENST00000398531.1	37	c.258C>T	CCDS41684.1																																																																																				0.687	KRTAP5-10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000127968.2			7	635	0	0	0	0.000157383	0	7	635				
VPS13C	54832	broad.mit.edu	37	15	62173113	62173113	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr15:62173113C>A	ENST00000261517.5	-	72	9890	c.9817G>T	c.(9817-9819)Gat>Tat	p.D3273Y	VPS13C_ENST00000558919.1_5'UTR|VPS13C_ENST00000249837.3_Missense_Mutation_p.D3230Y|VPS13C_ENST00000395896.4_Missense_Mutation_p.D3273Y|VPS13C_ENST00000395898.3_Missense_Mutation_p.D3230Y	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						AACCCTTGATCAATTTTTAAG	0.318																																						ENST00000261517.5																			0				NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(9817-9819)Gat>Tat		vacuolar protein sorting 13 homolog C (S. cerevisiae)							55.0	59.0	58.0					15																	62173113		2202	4298	6500	SO:0001583	missense	54832				protein localization			g.chr15:62173113C>A	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.9817G>T	15.37:g.62173113C>A	ENSP00000261517:p.Asp3273Tyr					VPS13C_ENST00000395898.3_Missense_Mutation_p.D3230Y|VPS13C_ENST00000395896.4_Missense_Mutation_p.D3273Y|VPS13C_ENST00000558919.1_5'UTR|VPS13C_ENST00000249837.3_Missense_Mutation_p.D3230Y	p.D3273Y	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN			72	9890	-			3273						Missense_Mutation	SNP	ENST00000261517.5	37	c.9817G>T	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.286607	0.80803	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	D;D;D	0.84370	-1.84;-1.84;-1.84	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.93504	0.7927	M	0.86097	2.795	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.93947	0.7228	10	0.87932	D	0	.	19.7126	0.96102	0.0:1.0:0.0:0.0	.	3230;3273;3230;3273	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	Y	3230;3273;3273;3273	ENSP00000249837:D3230Y;ENSP00000261517:D3273Y;ENSP00000379233:D3273Y	ENSP00000249837:D3230Y	D	-	1	0	VPS13C	59960405	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.454000	0.80714	2.664000	0.90586	0.650000	0.86243	GAT		0.318	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		11	523	1	0	2.31682e-05	2.31682e-05	0.00220351	11	523				
CADM1	23705	broad.mit.edu	37	11	115085351	115085351	+	Nonsense_Mutation	SNP	G	G	T	rs376941564		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr11:115085351G>T	ENST00000452722.3	-	7	991	c.971C>A	c.(970-972)tCg>tAg	p.S324*	CADM1_ENST00000542447.2_Nonsense_Mutation_p.S324*|CADM1_ENST00000536727.1_Nonsense_Mutation_p.S324*|CADM1_ENST00000331581.6_Nonsense_Mutation_p.S324*|CADM1_ENST00000537058.1_Nonsense_Mutation_p.S324*|CADM1_ENST00000537140.1_5'UTR	NM_014333.3	NP_055148.3			cell adhesion molecule 1											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)		CATATAATCCGAGTGAGCTTT	0.423																																						ENST00000542447.2																			0				cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32						c.(970-972)tCg>tAg		cell adhesion molecule 1							222.0	199.0	207.0					11																	115085351		2201	4296	6497	SO:0001587	stop_gained	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.chr11:115085351G>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.971C>A	11.37:g.115085351G>T	ENSP00000395359:p.Ser324*					CADM1_ENST00000331581.6_Nonsense_Mutation_p.S324*|CADM1_ENST00000536727.1_Nonsense_Mutation_p.S324*|CADM1_ENST00000452722.2_Nonsense_Mutation_p.S324*|CADM1_ENST00000537058.1_Nonsense_Mutation_p.S324*|CADM1_ENST00000537140.1_5'UTR	p.S324*	NM_001098517.1	NP_001091987.1	Q9BY67	CADM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)	7	1099	-	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)	324			Ig-like C2-type 2.			Nonsense_Mutation	SNP	ENST00000452722.3	37	c.971C>A	CCDS8373.1	.	.	.	.	.	.	.	.	.	.	G	36	5.707897	0.96821	.	.	ENSG00000182985	ENST00000542447;ENST00000452722;ENST00000537058;ENST00000536727;ENST00000404468;ENST00000331581	.	.	.	5.62	5.62	0.85841	.	0.132015	0.49916	D	0.000133	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	19.6764	0.95936	0.0:0.0:1.0:0.0	.	.	.	.	X	324;324;324;324;283;324	.	ENSP00000329797:S324X	S	-	2	0	CADM1	114590561	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.968000	0.56809	2.660000	0.90430	0.655000	0.94253	TCG		0.423	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	NM_014333		9	830	1	0	3.86212e-05	3.86212e-05	0.00332401	9	830				
NACA2	342538	broad.mit.edu	37	17	59668349	59668349	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr17:59668349C>A	ENST00000521764.1	-	1	214	c.193G>T	c.(193-195)Ggt>Tgt	p.G65C		NM_199290.3	NP_954984.1	Q9H009	NACA2_HUMAN	nascent polypeptide-associated complex alpha subunit 2	65					myoblast migration (GO:0051451)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	12	all_epithelial(1;3.12e-14)					TTTGCTTTACCGACTGGTTCT	0.483																																						ENST00000521764.1																			0				large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	12						c.(193-195)Ggt>Tgt		nascent polypeptide-associated complex alpha subunit 2							188.0	171.0	177.0					17																	59668349		2203	4300	6503	SO:0001583	missense	342538				protein transport	cytoplasm|nucleus		g.chr17:59668349C>A	BC062710	CCDS11630.1	17q23.3	2014-01-28	2007-04-20	2007-04-20		ENSG00000253506			23290	protein-coding gene	gene with protein product	"""alpha-NAC protein"""	609274	"""nascent-polypeptide-associated complex alpha polypeptide-like"""	NACAL		12406326	Standard	NM_199290		Approved	MGC71999	uc002izj.2	Q9H009		ENST00000521764.1:c.193G>T	17.37:g.59668349C>A	ENSP00000427802:p.Gly65Cys						p.G65C	NM_199290.3	NP_954984.1	Q9H009	NACA2_HUMAN			1	214	-	all_epithelial(1;3.12e-14)		65					Q2VIR9	Missense_Mutation	SNP	ENST00000521764.1	37	c.193G>T	CCDS11630.1	.	.	.	.	.	.	.	.	.	.	T	14.35	2.508495	0.44660	.	.	ENSG00000253506	ENST00000521764	T	0.45276	0.9	0.753	-0.473	0.12112	.	0.000000	0.85682	U	0.000000	T	0.16896	0.0406	N	0.08118	0	0.21220	N	0.999753	B	0.24317	0.101	B	0.24269	0.052	T	0.19321	-1.0309	9	.	.	.	.	5.1442	0.14975	0.0:0.4225:0.0:0.5775	.	65	Q9H009	NACA2_HUMAN	C	65	ENSP00000427802:G65C	.	G	-	1	0	NACA2	57023131	1.000000	0.71417	0.972000	0.41901	0.763000	0.43281	2.566000	0.45948	-0.880000	0.03997	-0.684000	0.03749	GGT		0.483	NACA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255437.2	NM_199290		12	837	1	0	0.000151284	0.000151284	0.00973904	12	837				
TUBA3E	112714	broad.mit.edu	37	2	130949696	130949696	+	Missense_Mutation	SNP	C	C	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:130949696C>T	ENST00000312988.7	-	5	1161	c.1061G>A	c.(1060-1062)gGc>gAc	p.G354D		NM_207312.2	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	354					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					GTAGTTAATGCCCACCTGCCA	0.572																																						ENST00000312988.7																			0				endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28						c.(1060-1062)gGc>gAc		tubulin, alpha 3e							36.0	38.0	37.0					2																	130949696		2202	4300	6502	SO:0001583	missense	112714				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr2:130949696C>T	BC057811	CCDS2158.1	2q21.1	2007-03-16			ENSG00000152086	ENSG00000152086		"""Tubulins"""	20765	protein-coding gene	gene with protein product							Standard	NM_207312		Approved		uc002tqv.3	Q6PEY2	OTTHUMG00000131626	ENST00000312988.7:c.1061G>A	2.37:g.130949696C>T	ENSP00000318197:p.Gly354Asp						p.G354D	NM_207312.2	NP_997195.1	Q6PEY2	TBA3E_HUMAN			5	1161	-	Colorectal(110;0.1)		354						Missense_Mutation	SNP	ENST00000312988.7	37	c.1061G>A	CCDS2158.1	.	.	.	.	.	.	.	.	.	.	c	14.23	2.473840	0.43942	.	.	ENSG00000152086	ENST00000312988	D	0.84873	-1.91	2.96	2.96	0.34315	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.000000	0.49916	U	0.000137	D	0.94212	0.8142	H	0.99535	4.615	0.53688	D	0.999973	P	0.39216	0.664	P	0.51550	0.673	D	0.95347	0.8443	10	0.87932	D	0	.	11.6912	0.51516	0.0:1.0:0.0:0.0	.	354	Q6PEY2	TBA3E_HUMAN	D	354	ENSP00000318197:G354D	ENSP00000318197:G354D	G	-	2	0	TUBA3E	130666166	1.000000	0.71417	1.000000	0.80357	0.746000	0.42486	5.399000	0.66314	1.668000	0.50843	0.455000	0.32223	GGC		0.572	TUBA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254519.1	NM_207312		5	415	0	0	0	3.59834e-05	0	5	415				
IKBIP	121457	broad.mit.edu	37	12	99020248	99020248	+	Intron	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr12:99020248G>T	ENST00000342502.2	-	2	709				IKBIP_ENST00000299157.4_Silent_p.L198L|IKBIP_ENST00000420861.1_Intron|IKBIP_ENST00000393042.3_Intron	NM_201612.2	NP_963906.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein						response to X-ray (GO:0010165)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						GCCGTTCAGTGAGCAATTTTA	0.348																																						ENST00000299157.4																			0				NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						c.(592-594)ctC>ctA		IKBKB interacting protein							149.0	143.0	145.0					12																	99020248		2203	4300	6503	SO:0001627	intron_variant	121457				induction of apoptosis|response to X-ray	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr12:99020248G>T	AJ539425	CCDS9067.1, CCDS9068.1, CCDS41822.1	12q23.1	2010-02-17			ENSG00000166130	ENSG00000166130			26430	protein-coding gene	gene with protein product	"""I kappa B kinase interacting protein"""	609861				15389287	Standard	NM_153687		Approved	FLJ31051, IKIP	uc001tfx.4	Q70UQ0	OTTHUMG00000170213	ENST00000342502.2:c.297+7825C>A	12.37:g.99020248G>T						IKBIP_ENST00000342502.2_Intron|IKBIP_ENST00000393042.3_Intron|IKBIP_ENST00000420861.1_Intron	p.L198L	NM_153687.3	NP_710154.1	Q70UQ0	IKIP_HUMAN			3	967	-			199					Q6ZWH4|Q70UP9|Q86V91|Q96ND2	Silent	SNP	ENST00000342502.2	37	c.594C>A	CCDS9067.1																																																																																				0.348	IKBIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000408003.2	NM_153687		11	597	1	0	9.31168e-06	0.000151284	0.00101158	11	597				
MGAT3	4248	broad.mit.edu	37	22	39884636	39884636	+	Silent	SNP	C	C	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr22:39884636C>T	ENST00000341184.6	+	2	1499	c.1284C>T	c.(1282-1284)atC>atT	p.I428I		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	428					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0003830)			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					CCGAGGGCATCTACTTCAAGC	0.652																																						ENST00000341184.6																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24						c.(1282-1284)atC>atT		mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase							55.0	52.0	53.0					22																	39884636		2203	4300	6503	SO:0001819	synonymous_variant	4248				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity	g.chr22:39884636C>T	D13789	CCDS13994.2	22q13.1	2013-02-25			ENSG00000128268	ENSG00000128268	2.4.1.144	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7046	protein-coding gene	gene with protein product		604621				8370666	Standard	NM_002409		Approved	GNT-III	uc010gxy.3	Q09327	OTTHUMG00000030185	ENST00000341184.6:c.1284C>T	22.37:g.39884636C>T							p.I428I	NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN			2	1499	+	Melanoma(58;0.04)		428					A6NGD0|Q14CK5|Q6IC49|Q9UH32	Silent	SNP	ENST00000341184.6	37	c.1284C>T	CCDS13994.2																																																																																				0.652	MGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075039.2	NM_002409		18	150	0	0	0	7.07596e-05	0	18	150				
FREM2	341640	broad.mit.edu	37	13	39451286	39451286	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr13:39451286G>T	ENST00000280481.7	+	21	8793	c.8577G>T	c.(8575-8577)ttG>ttT	p.L2859F		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2859					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AGTTTAGCTTGAACACCCAAA	0.438																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(8575-8577)ttG>ttT		FRAS1 related extracellular matrix protein 2							279.0	243.0	255.0					13																	39451286		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39451286G>T	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.8577G>T	13.37:g.39451286G>T	ENSP00000280481:p.Leu2859Phe						p.L2859F	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	21	8793	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	2859					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.8577G>T	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	18.80	3.700345	0.68501	.	.	ENSG00000150893	ENST00000280481	T	0.66995	-0.24	5.92	3.07	0.35406	.	0.000000	0.64402	D	0.000003	D	0.82999	0.5159	M	0.89095	3.005	0.54753	D	0.999988	D	0.89917	1.0	D	0.91635	0.999	D	0.85672	0.1295	10	0.87932	D	0	.	12.8854	0.58040	0.0:0.454:0.428:0.1181	.	2859	Q5SZK8	FREM2_HUMAN	F	2859	ENSP00000280481:L2859F	ENSP00000280481:L2859F	L	+	3	2	FREM2	38349286	0.987000	0.35691	1.000000	0.80357	0.972000	0.66771	0.140000	0.16056	0.821000	0.34540	0.467000	0.42956	TTG		0.438	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		14	1074	1	0	1.3612e-06	2.31682e-05	0.000177925	14	1074				
FRYL	285527	broad.mit.edu	37	4	48503669	48503669	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr4:48503669G>T	ENST00000503238.1	-	59	8562	c.8563C>A	c.(8563-8565)Caa>Aaa	p.Q2855K	FRYL_ENST00000537810.1_Missense_Mutation_p.Q2855K|FRYL_ENST00000264319.7_Missense_Mutation_p.Q245K|FRYL_ENST00000507873.2_Missense_Mutation_p.Q245K|FRYL_ENST00000358350.4_Missense_Mutation_p.Q2855K			O94915	FRYL_HUMAN	FRY-like	2855					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						GTATTTACTTGGTTGATAAGT	0.294																																						ENST00000537810.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(8563-8565)Caa>Aaa		FRY-like							168.0	165.0	166.0					4																	48503669		1810	4078	5888	SO:0001583	missense	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48503669G>T	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.8563C>A	4.37:g.48503669G>T	ENSP00000426064:p.Gln2855Lys					FRYL_ENST00000503238.1_Missense_Mutation_p.Q2855K|FRYL_ENST00000507873.2_Missense_Mutation_p.Q245K|FRYL_ENST00000264319.7_Missense_Mutation_p.Q245K|FRYL_ENST00000358350.4_Missense_Mutation_p.Q2855K	p.Q2855K			O94915	FRYL_HUMAN			62	9167	-			2855					O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	c.8563C>A	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	G	7.661	0.684944	0.14973	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000264319;ENST00000507873	T;T;T	0.23348	1.91;1.91;1.91	5.45	5.45	0.79879	.	0.158893	0.41396	U	0.000881	T	0.26340	0.0643	L	0.47716	1.5	0.49483	D	0.999798	B;B;B	0.24092	0.032;0.097;0.0	B;B;B	0.24701	0.025;0.055;0.001	T	0.06734	-1.0810	10	0.13853	T	0.58	.	19.6539	0.95828	0.0:0.0:1.0:0.0	.	2855;2855;245	O94915;F5GX82;O94915-2	FRYL_HUMAN;.;.	K	2855;2855;2855;245;245	ENSP00000426064:Q2855K;ENSP00000351113:Q2855K;ENSP00000441114:Q2855K	ENSP00000264319:Q245K	Q	-	1	0	FRYL	48198426	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.566000	0.60843	2.719000	0.93026	0.484000	0.47621	CAA		0.294	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			13	1043	1	0	0.000151284	0.000151284	0.00973904	13	1043				
KIF5B	3799	broad.mit.edu	37	10	32323665	32323665	+	Missense_Mutation	SNP	C	C	A	rs141896420		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr10:32323665C>A	ENST00000302418.4	-	11	1521	c.1064G>T	c.(1063-1065)cGg>cTg	p.R355L		NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	355					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|cytoplasm organization (GO:0007028)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane potential (GO:0042391)|stress granule disassembly (GO:0035617)|vesicle transport along microtubule (GO:0047496)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				AATAGTGTTCCGCAGGATCTT	0.338			T	"""RET, ALK"""	NSCLC																																	ENST00000302418.4				Dom	yes		10	10p11.22	3799	T	kinesin family member 5B			E	"""RET, ALK"""		NSCLC	KIF5B/ALK(8)|KIF5B/RET(79)	0				NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35						c.(1063-1065)cGg>cTg		kinesin family member 5B							66.0	63.0	64.0					10																	32323665		2203	4299	6502	SO:0001583	missense	3799				stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity	g.chr10:32323665C>A	X65873	CCDS7171.1	10p11.22	2007-02-13			ENSG00000170759	ENSG00000170759		"""Kinesins"""	6324	protein-coding gene	gene with protein product		602809		KNS1		1607388	Standard	NM_004521		Approved	KNS	uc001iwe.4	P33176	OTTHUMG00000017913	ENST00000302418.4:c.1064G>T	10.37:g.32323665C>A	ENSP00000307078:p.Arg355Leu						p.R355L	NM_004521.2	NP_004512.1	P33176	KINH_HUMAN			11	1521	-		Prostate(175;0.0137)	355					A0AVB2|Q5VZ85	Missense_Mutation	SNP	ENST00000302418.4	37	c.1064G>T	CCDS7171.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.853165	0.51270	.	.	ENSG00000170759	ENST00000302418	D	0.87809	-2.3	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.83922	0.5359	L	0.44542	1.39	0.45403	D	0.998389	B	0.23854	0.092	B	0.23852	0.049	T	0.79327	-0.1849	10	0.28530	T	0.3	.	18.8538	0.92242	0.0:1.0:0.0:0.0	.	355	P33176	KINH_HUMAN	L	355	ENSP00000307078:R355L	ENSP00000307078:R355L	R	-	2	0	KIF5B	32363671	0.978000	0.34361	1.000000	0.80357	0.957000	0.61999	2.608000	0.46308	2.435000	0.82474	0.563000	0.77884	CGG		0.338	KIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047467.1	NM_004521		7	523	1	0	8.12818e-05	8.12818e-05	0.00618932	7	523				
VCPIP1	80124	broad.mit.edu	37	8	67577681	67577681	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr8:67577681C>A	ENST00000310421.4	-	1	1771	c.1513G>T	c.(1513-1515)Gac>Tac	p.D505Y	C8orf44_ENST00000521889.1_5'Flank|C8orf44-SGK3_ENST00000519289.1_5'Flank|C8orf44_ENST00000519561.1_5'Flank	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	505					endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			TAATTTTTGTCAGTCCTCAGC	0.433																																					NSCLC(179;265 2915 6144 43644)	ENST00000310421.4																			0				breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(1513-1515)Gac>Tac		valosin containing protein (p97)/p47 complex interacting protein 1							164.0	172.0	169.0					8																	67577681		2203	4300	6503	SO:0001583	missense	80124				protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity	g.chr8:67577681C>A	AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"""OTU domain containing"""	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.1513G>T	8.37:g.67577681C>A	ENSP00000309031:p.Asp505Tyr						p.D505Y	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)		1	1771	-		Lung NSC(129;0.142)|all_lung(136;0.227)	505					Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Missense_Mutation	SNP	ENST00000310421.4	37	c.1513G>T	CCDS6192.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.058413	0.55325	.	.	ENSG00000175073	ENST00000310421	T	0.34275	1.37	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.56645	0.1999	L	0.51422	1.61	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.57665	-0.7772	10	0.62326	D	0.03	-10.4364	18.9562	0.92659	0.0:1.0:0.0:0.0	.	505	Q96JH7	VCIP1_HUMAN	Y	505	ENSP00000309031:D505Y	ENSP00000309031:D505Y	D	-	1	0	VCPIP1	67740235	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.459000	0.83118	0.655000	0.94253	GAC		0.433	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1			15	976	1	0	9.31168e-06	0.000151284	0.00101158	15	976				
POP1	10940	broad.mit.edu	37	8	99142441	99142441	+	Missense_Mutation	SNP	G	G	A	rs148502433		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr8:99142441G>A	ENST00000401707.2	+	5	803	c.722G>A	c.(721-723)cGg>cAg	p.R241Q	POP1_ENST00000349693.3_Missense_Mutation_p.R241Q	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	241					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA 5'-leader removal (GO:0001682)|tRNA catabolic process (GO:0016078)	extracellular space (GO:0005615)|nucleolar ribonuclease P complex (GO:0005655)|ribonuclease MRP complex (GO:0000172)	poly(A) RNA binding (GO:0044822)|ribonuclease MRP activity (GO:0000171)|ribonuclease P activity (GO:0004526)			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			ATGACGAACCGGTGCCTCCTG	0.498													G|||	1	0.000199681	0.0	0.0	5008	,	,		15993	0.0		0.001	False		,,,				2504	0.0					ENST00000401707.2																			0				autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(721-723)cGg>cAg		processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)		G	GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	75.0	74.0	74.0		722,722,722	-1.7	0.0	8	dbSNP_134	74	2,8596		0,2,4297	yes	missense,missense,missense	POP1	NM_001145860.1,NM_001145861.1,NM_015029.2	43,43,43	0,2,6500	AA,AG,GG		0.0233,0.0,0.0154	benign,benign,benign	241/1025,241/1025,241/1025	99142441	2,13002	2203	4299	6502	SO:0001583	missense	10940				tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity	g.chr8:99142441G>A	D31765	CCDS6277.1	8q22.2	2012-05-21			ENSG00000104356	ENSG00000104356			30129	protein-coding gene	gene with protein product	"""processing of precursors 1"""	602486				10199568, 8918471	Standard	NM_015029		Approved		uc011lgv.2	Q99575	OTTHUMG00000164635	ENST00000401707.2:c.722G>A	8.37:g.99142441G>A	ENSP00000385787:p.Arg241Gln					POP1_ENST00000349693.3_Missense_Mutation_p.R241Q	p.R241Q	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.145)		5	803	+	Breast(36;1.78e-06)		241					A8K5W9|Q15037	Missense_Mutation	SNP	ENST00000401707.2	37	c.722G>A	CCDS6277.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	10.70	1.424994	0.25639	0.0	2.33E-4	ENSG00000104356	ENST00000401707;ENST00000349693	T;T	0.41758	0.99;0.99	5.91	-1.73	0.08081	Ribonuclease P/MRP, subunit POP1 (1);	0.441265	0.23766	N	0.044766	T	0.20170	0.0485	L	0.28400	0.85	0.09310	N	1	B	0.22851	0.076	B	0.22753	0.041	T	0.06917	-1.0800	9	.	.	.	-14.9496	0.3734	0.00383	0.3481:0.131:0.2675:0.2534	.	241	Q99575	POP1_HUMAN	Q	241	ENSP00000385787:R241Q;ENSP00000339529:R241Q	.	R	+	2	0	POP1	99211617	0.044000	0.20184	0.001000	0.08648	0.221000	0.24807	1.582000	0.36568	-0.185000	0.10550	-0.176000	0.13171	CGG		0.498	POP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379470.1	NM_015029		7	540	0	0	0	1.12685e-05	0	7	540				
CATSPERD	257062	broad.mit.edu	37	19	5748182	5748182	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:5748182G>T	ENST00000381624.3	+	10	881	c.820G>T	c.(820-822)Gac>Tac	p.D274Y	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	274					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)											TCAGCTCGTCGACACCGTCCG	0.547																																						ENST00000381624.3																			0											c.(820-822)Gac>Tac		catsper channel auxiliary subunit delta							90.0	96.0	94.0					19																	5748182		1995	4159	6154	SO:0001583	missense	257062					integral to membrane		g.chr19:5748182G>T	BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"""transmembrane protein 146"""	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.820G>T	19.37:g.5748182G>T	ENSP00000371037:p.Asp274Tyr					CATSPERD_ENST00000381614.2_5'UTR	p.D274Y	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN			10	881	+			274					Q6ZRP1	Missense_Mutation	SNP	ENST00000381624.3	37	c.820G>T	CCDS12149.2	.	.	.	.	.	.	.	.	.	.	G	9.292	1.050834	0.19827	.	.	ENSG00000174898	ENST00000394548;ENST00000381624	T	0.23552	1.9	3.0	-6.0	0.02206	.	2.349280	0.02331	N	0.073899	T	0.14270	0.0345	L	0.27053	0.805	0.09310	N	0.999998	B	0.26258	0.145	B	0.23716	0.048	T	0.08764	-1.0706	10	0.49607	T	0.09	-2.0981	0.5168	0.00605	0.3854:0.13:0.2226:0.262	.	274	Q86XM0	TM146_HUMAN	Y	200;274	ENSP00000371037:D274Y	ENSP00000371037:D274Y	D	+	1	0	TMEM146	5699182	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.579000	0.05834	-1.819000	0.01216	-0.181000	0.13052	GAC		0.547	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2	NM_152784		10	381	1	0	5.50884e-06	0.00010058	0.000617672	10	381				
RASSF9	9182	broad.mit.edu	37	12	86198780	86198780	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr12:86198780C>A	ENST00000361228.3	-	2	1376	c.1008G>T	c.(1006-1008)ttG>ttT	p.L336F		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	336					endosomal transport (GO:0016197)|protein targeting (GO:0006605)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|trans-Golgi network transport vesicle membrane (GO:0012510)	transporter activity (GO:0005215)			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGATGCCACTCAAATGAGAGT	0.378																																						ENST00000361228.3																			0				endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1006-1008)ttG>ttT		Ras association (RalGDS/AF-6) domain family (N-terminal) member 9							177.0	180.0	179.0					12																	86198780		1850	4088	5938	SO:0001583	missense	9182				endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity	g.chr12:86198780C>A		CCDS44950.1	12q21.31	2008-02-22	2008-02-22	2008-02-22		ENSG00000198774			15739	protein-coding gene	gene with protein product		610383	"""peptidylglycine alpha-amidating monooxygenase COOH-terminal interactor"""	PAMCI		9837933, 18272789	Standard	NM_005447		Approved	P-CIP1	uc001taf.1	O75901	OTTHUMG00000169831	ENST00000361228.3:c.1008G>T	12.37:g.86198780C>A	ENSP00000354884:p.Leu336Phe						p.L336F	NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN			2	1376	-			336					B3KMQ4|Q8N5U8	Missense_Mutation	SNP	ENST00000361228.3	37	c.1008G>T	CCDS44950.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.511967	0.27036	.	.	ENSG00000198774	ENST00000361228	T	0.55413	0.52	4.9	3.99	0.46301	.	0.372072	0.25205	U	0.032355	T	0.31104	0.0786	N	0.12746	0.255	0.35678	D	0.813822	P	0.35793	0.521	B	0.33121	0.158	T	0.45381	-0.9265	10	0.52906	T	0.07	-14.4116	9.0819	0.36556	0.147:0.774:0.0:0.0789	.	336	O75901	RASF9_HUMAN	F	336	ENSP00000354884:L336F	ENSP00000354884:L336F	L	-	3	2	RASSF9	84722911	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	0.819000	0.27308	2.419000	0.82065	0.650000	0.86243	TTG		0.378	RASSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406109.1			11	993	1	0	0.00010058	0.00010058	0.0072096	11	993				
TUBA3E	112714	broad.mit.edu	37	2	130952659	130952659	+	Missense_Mutation	SNP	C	C	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:130952659C>T	ENST00000312988.7	-	3	468	c.368G>A	c.(367-369)cGc>cAc	p.R123H		NM_207312.2	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	123					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.R123H(1)		endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					TACCAGTTTGCGGATCCGGTC	0.498																																						ENST00000312988.7																			1	Substitution - Missense(1)	p.R123H(1)	large_intestine(1)	endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28						c.(367-369)cGc>cAc		tubulin, alpha 3e							148.0	142.0	144.0					2																	130952659		2203	4300	6503	SO:0001583	missense	112714				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr2:130952659C>T	BC057811	CCDS2158.1	2q21.1	2007-03-16			ENSG00000152086	ENSG00000152086		"""Tubulins"""	20765	protein-coding gene	gene with protein product							Standard	NM_207312		Approved		uc002tqv.3	Q6PEY2	OTTHUMG00000131626	ENST00000312988.7:c.368G>A	2.37:g.130952659C>T	ENSP00000318197:p.Arg123His						p.R123H	NM_207312.2	NP_997195.1	Q6PEY2	TBA3E_HUMAN			3	468	-	Colorectal(110;0.1)		123						Missense_Mutation	SNP	ENST00000312988.7	37	c.368G>A	CCDS2158.1	.	.	.	.	.	.	.	.	.	.	c	12.44	1.938632	0.34189	.	.	ENSG00000152086	ENST00000312988	T	0.72615	-0.67	2.95	2.95	0.34219	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.51477	U	0.000088	D	0.86648	0.5983	H	0.97103	3.94	0.47994	D	0.999563	B	0.32968	0.392	P	0.51135	0.66	D	0.89058	0.3460	10	0.72032	D	0.01	.	11.6556	0.51315	0.0:1.0:0.0:0.0	.	123	Q6PEY2	TBA3E_HUMAN	H	123	ENSP00000318197:R123H	ENSP00000318197:R123H	R	-	2	0	TUBA3E	130669129	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	6.473000	0.73572	1.656000	0.50722	0.455000	0.32223	CGC		0.498	TUBA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254519.1	NM_207312		6	913	0	0	0	1.23904e-05	0	6	913				
GON4L	54856	broad.mit.edu	37	1	155743000	155743000	+	Splice_Site	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:155743000C>A	ENST00000368331.1	-	18	2400	c.2352G>T	c.(2350-2352)gcG>gcT	p.A784A	GON4L_ENST00000271883.5_Splice_Site_p.A784A|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000437809.1_Splice_Site_p.A784A|GON4L_ENST00000361040.5_Splice_Site_p.A784A	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	784					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GAAATTCATTCGCTATAAGAA	0.408																																						ENST00000437809.1																			0				NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45						c.e18-1		gon-4-like (C. elegans)							74.0	72.0	73.0					1																	155743000		2203	4300	6503	SO:0001630	splice_region_variant	54856				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:155743000C>A	AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.2351-1G>T	1.37:g.155743000C>A						GON4L_ENST00000271883.5_Splice_Site_p.A784_splice|GON4L_ENST00000361040.5_Splice_Site_p.A784_splice|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000368331.1_Splice_Site_p.A784_splice	p.A784_splice			Q3T8J9	GON4L_HUMAN			18	2474	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)		784					B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Splice_Site	SNP	ENST00000368331.1	37	c.2350_splice																																																																																					0.408	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292	Silent	9	483	1	0	3.86212e-05	3.86212e-05	0.00332401	9	483				
ZFP82	284406	broad.mit.edu	37	19	36883858	36883858	+	Missense_Mutation	SNP	G	G	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:36883858G>A	ENST00000392161.3	-	5	1626	c.1384C>T	c.(1384-1386)Cgc>Tgc	p.R462C	ZFP82_ENST00000392171.1_Missense_Mutation_p.R462C	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	462					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)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AGTTTTTGGCGCAATCTAAAG	0.398																																						ENST00000392161.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1384-1386)Cgc>Tgc		ZFP82 zinc finger protein							104.0	100.0	101.0					19																	36883858		2203	4300	6503	SO:0001583	missense	284406				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36883858G>A	AL834267	CCDS12493.1	19q13.13	2013-01-08	2012-11-27	2008-07-01		ENSG00000181007		"""Zinc fingers, C2H2-type"", ""-"""	28682	protein-coding gene	gene with protein product			"""zinc finger protein 545"", ""zinc finger protein 82 homolog (mouse)"", ""zinc finger protein 82"""	ZNF545		11853319	Standard	NM_133466		Approved	MGC45380, KIAA1948	uc002ody.1	Q8N141		ENST00000392161.3:c.1384C>T	19.37:g.36883858G>A	ENSP00000431265:p.Arg462Cys					ZFP82_ENST00000392171.1_Missense_Mutation_p.R462C	p.R462C	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN			5	1626	-			462					Q8NC63|Q8TF53	Missense_Mutation	SNP	ENST00000392161.3	37	c.1384C>T	CCDS12493.1	.	.	.	.	.	.	.	.	.	.	G	11.02	1.517462	0.27123	.	.	ENSG00000181007	ENST00000392161;ENST00000392171	T;T	0.08634	3.07;3.07	4.2	3.12	0.35913	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.38326	N	0.001727	T	0.11623	0.0283	M	0.68952	2.095	0.09310	N	1	D	0.63880	0.993	P	0.47626	0.552	T	0.13872	-1.0493	10	0.42905	T	0.14	.	5.1118	0.14813	0.1064:0.0:0.6852:0.2084	.	462	Q8N141	ZFP82_HUMAN	C	462	ENSP00000431265:R462C;ENSP00000446080:R462C	ENSP00000431265:R462C	R	-	1	0	ZFP82	41575698	0.000000	0.05858	1.000000	0.80357	0.950000	0.60333	-0.160000	0.10041	1.081000	0.41110	0.591000	0.81541	CGC		0.398	ZFP82-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109552.2	NM_133466		6	683	0	0	0	8.12818e-05	0	6	683				
ZNF311	282890	broad.mit.edu	37	6	28963821	28963821	+	Silent	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr6:28963821G>T	ENST00000377179.3	-	7	1470	c.958C>A	c.(958-960)Cga>Aga	p.R320R	ZNF311_ENST00000483450.1_5'UTR	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	320					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)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						TTTTTATGTCGGCAAAGAGCT	0.493																																						ENST00000377179.3																			0				NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						c.(958-960)Cga>Aga		zinc finger protein 311							74.0	66.0	69.0					6																	28963821		1511	2709	4220	SO:0001819	synonymous_variant	282890				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:28963821G>T	AL833166	CCDS34357.1	6p21.33	2013-01-08			ENSG00000197935	ENSG00000197935		"""Zinc fingers, C2H2-type"", ""-"""	13847	protein-coding gene	gene with protein product							Standard	XM_006715067		Approved		uc003nlu.2	Q5JNZ3	OTTHUMG00000031292	ENST00000377179.3:c.958C>A	6.37:g.28963821G>T						ZNF311_ENST00000483450.1_5'UTR	p.R320R	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN			7	1470	-			320					A2BFK5|B0S7Y4|Q92971	Silent	SNP	ENST00000377179.3	37	c.958C>A	CCDS34357.1																																																																																				0.493	ZNF311-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076631.3	XM_212581		11	413	1	0	0.000151284	0.000151284	0.00973904	11	413				
ABCC10	89845	broad.mit.edu	37	6	43415482	43415482	+	Silent	SNP	C	C	A	rs139000750		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr6:43415482C>A	ENST00000372530.4	+	18	3981	c.3766C>A	c.(3766-3768)Cgg>Agg	p.R1256R	ABCC10_ENST00000244533.3_Silent_p.R1228R	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1256	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	GTTGGCGTACCGGCCAGGGCT	0.667																																						ENST00000244533.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(3682-3684)Cgg>Agg		ATP-binding cassette, sub-family C (CFTR/MRP), member 10							142.0	147.0	146.0					6																	43415482		2203	4300	6503	SO:0001819	synonymous_variant	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43415482C>A	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"""ATP binding cassette transporters / subfamily C"""	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.3766C>A	6.37:g.43415482C>A						ABCC10_ENST00000372530.4_Silent_p.R1256R	p.R1228R	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		16	4041	+	all_lung(25;0.00536)		1256					Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Silent	SNP	ENST00000372530.4	37	c.3682C>A	CCDS56430.1																																																																																				0.667	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		8	837	1	0	0.000157383	0.000157383	0.00973904	8	837				
ADNP	23394	broad.mit.edu	37	20	49518611	49518611	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr20:49518611C>A	ENST00000396029.3	-	4	711	c.144G>T	c.(142-144)ttG>ttT	p.L48F	ADNP_ENST00000371602.4_Missense_Mutation_p.L48F|ADNP_ENST00000396032.3_Missense_Mutation_p.L48F|ADNP_ENST00000349014.3_Missense_Mutation_p.L48F	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	48					negative regulation of neuron apoptotic process (GO:0043524)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						TAGTGTTTTTCAAATAAAAGT	0.383																																						ENST00000396029.3																			0				NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						c.(142-144)ttG>ttT		activity-dependent neuroprotector homeobox							141.0	140.0	140.0					20																	49518611		2203	4300	6503	SO:0001583	missense	23394					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:49518611C>A	AF250860	CCDS13433.1	20q13.13	2011-06-20	2007-07-17		ENSG00000101126	ENSG00000101126		"""Homeoboxes / ZF class"""	15766	protein-coding gene	gene with protein product	"""ADNP homeobox 1"""	611386	"""activity-dependent neuroprotector"""			9872452, 11013255	Standard	NM_015339		Approved	KIAA0784, ADNP1	uc002xvu.1	Q9H2P0	OTTHUMG00000032737	ENST00000396029.3:c.144G>T	20.37:g.49518611C>A	ENSP00000379346:p.Leu48Phe					ADNP_ENST00000396032.3_Missense_Mutation_p.L48F|ADNP_ENST00000349014.3_Missense_Mutation_p.L48F|ADNP_ENST00000371602.4_Missense_Mutation_p.L48F	p.L48F	NM_015339.2	NP_056154.1	Q9H2P0	ADNP_HUMAN			4	711	-			48					E1P5Y2|O94881|Q5BKU2|Q9UG34	Missense_Mutation	SNP	ENST00000396029.3	37	c.144G>T	CCDS13433.1	.	.	.	.	.	.	.	.	.	.	C	10.14	1.268318	0.23136	.	.	ENSG00000101126	ENST00000371602;ENST00000349014;ENST00000396029;ENST00000396032;ENST00000534467	T;T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.66;-0.66	6.17	6.17	0.99709	.	0.210963	0.44483	D	0.000449	T	0.50837	0.1639	N	0.04090	-0.28	0.42869	D	0.994132	P	0.48911	0.917	B	0.43478	0.421	T	0.54296	-0.8315	9	.	.	.	-19.1599	13.9957	0.64397	0.0:0.9315:0.0:0.0685	.	48	Q9H2P0	ADNP_HUMAN	F	48	ENSP00000360662:L48F;ENSP00000342905:L48F;ENSP00000379346:L48F;ENSP00000379349:L48F;ENSP00000436181:L48F	.	L	-	3	2	ADNP	48952018	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.496000	0.35638	2.941000	0.99782	0.655000	0.94253	TTG		0.383	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079705.2	NM_181442		14	813	1	0	0.00010058	0.00010058	0.0072096	14	813				
CLSPN	63967	broad.mit.edu	37	1	36204980	36204980	+	Silent	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:36204980G>T	ENST00000318121.3	-	19	3351	c.3294C>A	c.(3292-3294)atC>atA	p.I1098I	CLSPN_ENST00000251195.5_Silent_p.I1098I|CLSPN_ENST00000466308.1_5'Flank|CLSPN_ENST00000373220.3_Silent_p.I1034I|CLSPN_ENST00000520551.1_Silent_p.I1045I|RP11-435D7.3_ENST00000373226.2_RNA	NM_022111.3	NP_071394.2	Q9HAW4	CLSPN_HUMAN	claspin	1098					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|mitotic DNA replication checkpoint (GO:0033314)|peptidyl-serine phosphorylation (GO:0018105)	nucleoplasm (GO:0005654)	anaphase-promoting complex binding (GO:0010997)|DNA binding (GO:0003677)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GTATTTTCTTGATTTGACTCT	0.408																																						ENST00000251195.5																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56						c.(3292-3294)atC>atA		claspin							252.0	231.0	238.0					1																	36204980		2203	4300	6503	SO:0001819	synonymous_variant	63967				activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding	g.chr1:36204980G>T	AF297866	CCDS396.1, CCDS53297.1	1p34.3	2010-06-24	2010-06-24		ENSG00000092853	ENSG00000092853			19715	protein-coding gene	gene with protein product		605434	"""claspin homolog (Xenopus laevis)"""			11090622, 12766152	Standard	NM_022111		Approved		uc001bzi.3	Q9HAW4	OTTHUMG00000004168	ENST00000318121.3:c.3294C>A	1.37:g.36204980G>T						CLSPN_ENST00000373220.3_Silent_p.I1034I|CLSPN_ENST00000318121.3_Silent_p.I1098I|CLSPN_ENST00000520551.1_Silent_p.I1045I	p.I1098I			Q9HAW4	CLSPN_HUMAN			19	3390	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	1098					A6NFL4|Q1RMC6|Q2KHM3|Q5VYG0|Q6P6H5|Q8IWI1	Silent	SNP	ENST00000318121.3	37	c.3294C>A	CCDS396.1																																																																																				0.408	CLSPN-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377857.1	NM_022111		12	882	1	0	0.000151284	0.000151284	0.00973904	12	882				
OR2B11	127623	broad.mit.edu	37	1	247614397	247614397	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:247614397C>A	ENST00000318749.6	-	1	911	c.888G>T	c.(886-888)ctG>ctT	p.L296L		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	296						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CTTTATTTCTCAGGGTGTAGG	0.478																																						ENST00000318749.6																			0				endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60						c.(886-888)ctG>ctT		olfactory receptor, family 2, subfamily B, member 11							182.0	196.0	191.0					1																	247614397		2203	4300	6503	SO:0001819	synonymous_variant	127623				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247614397C>A		CCDS31090.1	1q44	2012-08-09			ENSG00000177535	ENSG00000177535		"""GPCR / Class A : Olfactory receptors"""	31249	protein-coding gene	gene with protein product							Standard	NM_001004492		Approved		uc010pyx.2	Q5JQS5	OTTHUMG00000040572	ENST00000318749.6:c.888G>T	1.37:g.247614397C>A							p.L296L	NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		1	911	-	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	296					B2RP03	Silent	SNP	ENST00000318749.6	37	c.888G>T	CCDS31090.1																																																																																				0.478	OR2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097620.1	NM_001004492		13	1284	1	0	3.86212e-05	3.86212e-05	0.00332401	13	1284				
ERCC6	2074	broad.mit.edu	37	10	50678238	50678238	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr10:50678238G>T	ENST00000355832.5	-	18	3846	c.3768C>A	c.(3766-3768)ttC>ttA	p.F1256L	RP11-123B3.2_ENST00000423283.1_RNA|ERCC6_ENST00000542458.1_Missense_Mutation_p.F626L|ERCC6_ENST00000465653.1_5'UTR	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	1256					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CTGATTTTTTGAAAAGCTTTT	0.418								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000355832.5																			0				breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(3766-3768)ttC>ttA	Direct reversal of damage;Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 6							234.0	225.0	228.0					10																	50678238		2203	4300	6503	SO:0001583	missense	2074				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding	g.chr10:50678238G>T	L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"""Cockayne syndrome B protein"""	609413	"""excision repair cross-complementing rodent repair deficiency, complementation group 6"""	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.3768C>A	10.37:g.50678238G>T	ENSP00000348089:p.Phe1256Leu					ERCC6_ENST00000465653.1_5'UTR|ERCC6_ENST00000542458.1_Missense_Mutation_p.F626L|RP11-123B3.2_ENST00000423283.1_RNA	p.F1256L	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN			18	3846	-			1256					D3DX94|Q5W0L9	Missense_Mutation	SNP	ENST00000355832.5	37	c.3768C>A	CCDS7229.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.770035	0.69992	.	.	ENSG00000225830	ENST00000355832;ENST00000374129;ENST00000542458	D;D	0.90563	-2.69;-2.32	5.56	3.72	0.42706	.	.	.	.	.	D	0.94135	0.8119	M	0.75777	2.31	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	D	0.92906	0.6343	9	0.44086	T	0.13	-17.9643	12.137	0.53977	0.1394:0.0:0.8606:0.0	.	1256;633	Q03468;Q59FF6	ERCC6_HUMAN;.	L	1256;633;626	ENSP00000348089:F1256L;ENSP00000445134:F626L	ENSP00000348089:F1256L	F	-	3	2	ERCC6	50348244	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.737000	0.62066	0.723000	0.32274	-0.229000	0.12294	TTC		0.418	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	NM_000124		14	784	1	0	3.45872e-05	3.45872e-05	0.0032145	14	784				
CHRNB4	1143	broad.mit.edu	37	15	78927852	78927852	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr15:78927852G>T	ENST00000261751.3	-	2	244	c.133C>A	c.(133-135)Cgc>Agc	p.R45S	CHRNB4_ENST00000412074.2_Missense_Mutation_p.R45S|CHRNB4_ENST00000560511.1_5'UTR	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	45					action potential (GO:0001508)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|regulation of neurotransmitter secretion (GO:0046928)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22					Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)	GTGGCTGGGCGGATCAGGTTA	0.572																																						ENST00000261751.3																			0				endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						c.(133-135)Cgc>Agc		cholinergic receptor, nicotinic, beta 4 (neuronal)							214.0	203.0	207.0					15																	78927852		2196	4293	6489	SO:0001583	missense	1143				regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr15:78927852G>T	U48861	CCDS10306.1, CCDS58392.1	15q24	2012-02-11	2012-02-07		ENSG00000117971	ENSG00000117971		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1964	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 4 (neuronal)"""	118509	"""cholinergic receptor, nicotinic, beta polypeptide 4"""			2004777	Standard	NM_000750		Approved		uc002bed.1	P30926	OTTHUMG00000143860	ENST00000261751.3:c.133C>A	15.37:g.78927852G>T	ENSP00000261751:p.Arg45Ser					CHRNB4_ENST00000412074.2_Missense_Mutation_p.R45S|CHRNB4_ENST00000560511.1_5'UTR	p.R45S	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN			2	244	-			45					A4FTX5|E9PHE8|Q16607|Q4VBA5|Q8WXC8|Q9BQR4	Missense_Mutation	SNP	ENST00000261751.3	37	c.133C>A	CCDS10306.1	.	.	.	.	.	.	.	.	.	.	G	19.31	3.802420	0.70682	.	.	ENSG00000117971	ENST00000261751;ENST00000412074	D;D	0.82893	-1.66;-1.66	3.98	3.98	0.46160	Neurotransmitter-gated ion-channel ligand-binding (3);	0.074052	0.53938	D	0.000053	D	0.94653	0.8276	H	0.98466	4.24	0.49798	D	0.999829	D;D	0.89917	0.999;1.0	D;D	0.97110	0.999;1.0	D	0.97131	0.9818	10	0.87932	D	0	.	16.1772	0.81858	0.0:0.0:1.0:0.0	.	45;45	E9PHE8;P30926	.;ACHB4_HUMAN	S	45	ENSP00000261751:R45S;ENSP00000416386:R45S	ENSP00000261751:R45S	R	-	1	0	CHRNB4	76714907	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	5.391000	0.66266	1.797000	0.52628	0.430000	0.28490	CGC		0.572	CHRNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290108.1			9	925	1	0	3.86212e-05	3.86212e-05	0.00332401	9	925				
SLC17A8	246213	broad.mit.edu	37	12	100774595	100774595	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr12:100774595C>A	ENST00000323346.5	+	2	531	c.218C>A	c.(217-219)cCc>cAc	p.P73H	SLC17A8_ENST00000392989.3_Missense_Mutation_p.P73H	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	73					ion transport (GO:0006811)|neurotransmitter transport (GO:0006836)|sensory perception of sound (GO:0007605)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						TGCGGCCTCCCCAAGCGTTAC	0.527																																						ENST00000323346.5																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						c.(217-219)cCc>cAc		solute carrier family 17 (vesicular glutamate transporter), member 8							162.0	151.0	155.0					12																	100774595		2203	4300	6503	SO:0001583	missense	246213				neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr12:100774595C>A	AJ459241	CCDS9077.1, CCDS44957.1	12q23.1	2013-07-18	2013-07-18		ENSG00000179520	ENSG00000179520		"""Solute carriers"""	20151	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 3"""	607557	"""deafness, autosomal dominant 25"", ""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8"""	DFNA25		12151341	Standard	NM_139319		Approved	VGLUT3	uc010svi.2	Q8NDX2	OTTHUMG00000170358	ENST00000323346.5:c.218C>A	12.37:g.100774595C>A	ENSP00000316909:p.Pro73His					SLC17A8_ENST00000392989.3_Missense_Mutation_p.P73H	p.P73H	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN			2	531	+			73					B3KXZ6|B7ZKV4|Q17RQ8	Missense_Mutation	SNP	ENST00000323346.5	37	c.218C>A	CCDS9077.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.578488	0.86645	.	.	ENSG00000179520	ENST00000323346;ENST00000392989	T;T	0.59364	0.27;0.27	5.27	5.27	0.74061	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.75583	0.3869	M	0.68317	2.08	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.99;0.993	T	0.78157	-0.2313	10	0.87932	D	0	.	18.8896	0.92392	0.0:1.0:0.0:0.0	.	73;73	Q8NDX2;Q8NDX2-2	VGLU3_HUMAN;.	H	73	ENSP00000316909:P73H;ENSP00000376715:P73H	ENSP00000316909:P73H	P	+	2	0	SLC17A8	99298726	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	7.711000	0.84669	2.466000	0.83321	0.591000	0.81541	CCC		0.527	SLC17A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408673.2	NM_139319		8	553	1	0	0.000157383	0.000157383	0.00973904	8	553				
MTR	4548	broad.mit.edu	37	1	237024423	237024423	+	Splice_Site	SNP	A	A	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:237024423A>T	ENST00000366577.5	+	20	2437		c.e20-1		MTR_ENST00000535889.1_Intron	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase						cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)	p.?(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	tgtcttttttAGGGCATTGAA	0.323																																						ENST00000366577.5																			1	Unknown(1)	p.?(1)	lung(1)	breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67						c.e20-1		5-methyltetrahydrofolate-homocysteine methyltransferase	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)						28.0	28.0	28.0					1																	237024423		2190	4294	6484	SO:0001630	splice_region_variant	4548				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding	g.chr1:237024423A>T	U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.2044-1A>T	1.37:g.237024423A>T						MTR_ENST00000535889.1_Intron		NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	20	2437	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)						A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Splice_Site	SNP	ENST00000366577.5	37		CCDS1614.1	.	.	.	.	.	.	.	.	.	.	A	19.94	3.919996	0.73098	.	.	ENSG00000116984	ENST00000417743;ENST00000366577;ENST00000366576	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6414	0.77006	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MTR	235091046	1.000000	0.71417	0.990000	0.47175	0.822000	0.46500	9.300000	0.96151	2.279000	0.76181	0.533000	0.62120	.		0.323	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096632.2	NM_000254	Intron	14	185	0	0	0	5.84002e-05	0	14	185				
DDX58	23586	broad.mit.edu	37	9	32485248	32485248	+	Missense_Mutation	SNP	C	C	A	rs368484093		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr9:32485248C>A	ENST00000379883.2	-	10	1562	c.1405G>T	c.(1405-1407)Gac>Tac	p.D469Y	DDX58_ENST00000542096.1_Missense_Mutation_p.D398Y|DDX58_ENST00000545044.1_Missense_Mutation_p.D266Y|DDX58_ENST00000379882.1_Missense_Mutation_p.D424Y|DDX58_ENST00000379868.1_Missense_Mutation_p.D266Y	NM_014314.3	NP_055129.2	O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	469	Interaction with ZC3HAV1.				cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell migration (GO:0030334)|regulation of type III interferon production (GO:0034344)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RIG-I signaling pathway (GO:0039529)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|identical protein binding (GO:0042802)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		TTAAATTTGTCGCTAATCCGT	0.363																																						ENST00000379882.1																			0				autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27						c.(1270-1272)Gac>Tac		DEAD (Asp-Glu-Ala-Asp) box polypeptide 58							132.0	130.0	131.0					9																	32485248		2203	4300	6503	SO:0001583	missense	23586				detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding	g.chr9:32485248C>A	AF038963	CCDS6526.1	9p12	2011-08-05			ENSG00000107201	ENSG00000107201		"""DEAD-boxes"""	19102	protein-coding gene	gene with protein product	"""RNA helicase RIG-I"", ""retinoic acid inducible gene I"""	609631				21690088	Standard	NM_014314		Approved	RIG-I, FLJ13599, DKFZp434J1111	uc003zra.3	O95786	OTTHUMG00000019746	ENST00000379883.2:c.1405G>T	9.37:g.32485248C>A	ENSP00000369213:p.Asp469Tyr					DDX58_ENST00000545044.1_Missense_Mutation_p.D266Y|DDX58_ENST00000542096.1_Missense_Mutation_p.D398Y|DDX58_ENST00000379868.1_Missense_Mutation_p.D266Y|DDX58_ENST00000379883.2_Missense_Mutation_p.D469Y	p.D424Y			O95786	DDX58_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)	9	1427	-			469			Helicase ATP-binding.		A2RU81|Q5HYE1|Q5VYT1|Q9NT04	Missense_Mutation	SNP	ENST00000379883.2	37	c.1270G>T	CCDS6526.1	.	.	.	.	.	.	.	.	.	.	C	10.83	1.462544	0.26248	.	.	ENSG00000107201	ENST00000379882;ENST00000379883;ENST00000379868;ENST00000542096;ENST00000545044	T;T;T;T;T	0.12465	3.21;3.18;3.1;3.06;2.68	4.95	-6.27	0.02026	.	0.396898	0.23215	N	0.050630	T	0.26738	0.0654	M	0.85630	2.765	0.09310	N	0.999999	D;P;P;D	0.67145	0.982;0.886;0.91;0.996	P;P;B;P	0.54815	0.672;0.578;0.374;0.761	T	0.11567	-1.0582	10	0.62326	D	0.03	-3.7673	13.289	0.60260	0.0:0.2803:0.0:0.7197	.	266;424;398;469	F5H5W6;O95786-2;B3KWW1;O95786	.;.;.;DDX58_HUMAN	Y	424;469;266;398;266	ENSP00000369212:D424Y;ENSP00000369213:D469Y;ENSP00000369197:D266Y;ENSP00000442160:D398Y;ENSP00000443055:D266Y	ENSP00000369197:D266Y	D	-	1	0	DDX58	32475248	0.002000	0.14202	0.000000	0.03702	0.017000	0.09413	-0.292000	0.08332	-1.244000	0.02516	0.655000	0.94253	GAC		0.363	DDX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052011.1	NM_014314		9	691	1	0	6.40141e-05	6.40141e-05	0.00496729	9	691				
DNAH8	1769	broad.mit.edu	37	6	38705701	38705701	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr6:38705701C>A	ENST00000359357.3	+	5	672	c.418C>A	c.(418-420)Cat>Aat	p.H140N	DNAH8_ENST00000449981.2_Missense_Mutation_p.H357N|DNAH8_ENST00000441566.1_Missense_Mutation_p.H140N			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	140					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)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGAAACTGTTCATCAGCTGGA	0.408																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(418-420)Cat>Aat		dynein, axonemal, heavy chain 8							136.0	134.0	135.0					6																	38705701		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38705701C>A	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.418C>A	6.37:g.38705701C>A	ENSP00000352312:p.His140Asn					DNAH8_ENST00000449981.2_Missense_Mutation_p.H357N|DNAH8_ENST00000441566.1_Missense_Mutation_p.H140N	p.H140N							5	672	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.418C>A		.	.	.	.	.	.	.	.	.	.	C	5.844	0.339911	0.11069	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.52526	0.66;0.66;0.66	5.62	4.76	0.60689	Dynein heavy chain, domain-1 (1);	0.431265	0.24467	N	0.038261	T	0.12092	0.0294	N	0.20685	0.6	0.25144	N	0.990471	B	0.09022	0.002	B	0.22601	0.04	T	0.18713	-1.0328	10	0.17369	T	0.5	.	6.7968	0.23729	0.143:0.706:0.0:0.151	.	140	Q96JB1	DYH8_HUMAN	N	345;345;140;140	ENSP00000333363:H345N;ENSP00000352312:H140N;ENSP00000402294:H140N	ENSP00000333363:H345N	H	+	1	0	DNAH8	38813679	1.000000	0.71417	0.972000	0.41901	0.390000	0.30446	2.542000	0.45744	1.370000	0.46153	-0.142000	0.14014	CAT		0.408	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		9	542	1	0	3.07112e-06	6.40141e-05	0.00037162	9	542				
DNM1P47	100216544	broad.mit.edu	37	15	102304884	102304884	+	RNA	SNP	G	G	C	rs192934815		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr15:102304884G>C	ENST00000561463.1	+	0	12930									DNM1 pseudogene 47																		GCGTGGGAACGAGAAGACACT	0.562																																						ENST00000561463.1																			0																																																			0							g.chr15:102304884G>C	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102304884G>C														0	12930	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.562	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		6	85	0	0	0	6.40141e-05	0	6	85				
ASH1L	55870	broad.mit.edu	37	1	155447701	155447701	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:155447701C>A	ENST00000368346.3	-	3	5599	c.4960G>T	c.(4960-4962)Gaa>Taa	p.E1654*	ASH1L_ENST00000392403.3_Nonsense_Mutation_p.E1654*			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1654	Ser-rich.				cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			ACTGCCCTTTCGTTAGAAGGC	0.428																																						ENST00000368346.3																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124						c.(4960-4962)Gaa>Taa		ash1 (absent, small, or homeotic)-like (Drosophila)							71.0	76.0	74.0					1																	155447701		2203	4300	6503	SO:0001587	stop_gained	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155447701C>A	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.4960G>T	1.37:g.155447701C>A	ENSP00000357330:p.Glu1654*					ASH1L_ENST00000392403.3_Nonsense_Mutation_p.E1654*	p.E1654*			Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		3	5599	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		1654			Ser-rich.		Q59GP1|Q5T714|Q5T715|Q9P2C7	Nonsense_Mutation	SNP	ENST00000368346.3	37	c.4960G>T		.	.	.	.	.	.	.	.	.	.	C	49	15.116674	0.99823	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	.	.	.	5.44	5.44	0.79542	.	0.067417	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	19.0495	0.93038	0.0:1.0:0.0:0.0	.	.	.	.	X	1654	.	ENSP00000357330:E1654X	E	-	1	0	ASH1L	153714325	0.998000	0.40836	0.998000	0.56505	0.955000	0.61496	4.846000	0.62860	2.832000	0.97577	0.655000	0.94253	GAA		0.428	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		10	864	1	0	6.40141e-05	6.40141e-05	0.00496729	10	864				
ITIH5	80760	broad.mit.edu	37	10	7621857	7621857	+	Missense_Mutation	SNP	C	C	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr10:7621857C>T	ENST00000256861.6	-	9	1357	c.1279G>A	c.(1279-1281)Gcc>Acc	p.A427T	ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397145.2_Missense_Mutation_p.A427T|ITIH5_ENST00000397146.2_Missense_Mutation_p.A427T|ITIH5_ENST00000446830.2_Missense_Mutation_p.A209T|ITIH5_ENST00000298441.6_Missense_Mutation_p.A213T	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	427	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.A427S(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TGGCCTCGGGCGGCCTCTCGG	0.617																																						ENST00000256861.6																			1	Substitution - Missense(1)	p.A427S(1)	lung(1)	NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						c.(1279-1281)Gcc>Acc		inter-alpha-trypsin inhibitor heavy chain family, member 5							136.0	123.0	128.0					10																	7621857		2203	4300	6503	SO:0001583	missense	80760				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7621857C>T			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"""inter-alpha (globulin) inhibitor H5"""			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.1279G>A	10.37:g.7621857C>T	ENSP00000256861:p.Ala427Thr					ITIH5_ENST00000397145.2_Missense_Mutation_p.A427T|ITIH5_ENST00000397146.2_Missense_Mutation_p.A427T|ITIH5_ENST00000446830.2_Missense_Mutation_p.A209T|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000298441.6_Missense_Mutation_p.A213T	p.A427T	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN			9	1357	-			427			VWFA.		Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	ENST00000256861.6	37	c.1279G>A		.	.	.	.	.	.	.	.	.	.	C	6.771	0.511196	0.12883	.	.	ENSG00000123243	ENST00000256861;ENST00000397146;ENST00000298441;ENST00000446830;ENST00000397145	T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13	5.2	1.74	0.24563	von Willebrand factor, type A (3);	0.388819	0.30979	N	0.008484	T	0.63896	0.2550	.	.	.	0.09310	N	1	B;B;B	0.25563	0.129;0.056;0.046	B;B;B	0.17433	0.018;0.01;0.006	T	0.52275	-0.8597	9	0.42905	T	0.14	-17.5123	8.1036	0.30872	0.0:0.4401:0.0:0.5599	.	427;427;213	G5E9D8;Q86UX2;Q86UX2-3	.;ITIH5_HUMAN;.	T	427;427;213;209;427	ENSP00000256861:A427T;ENSP00000380333:A427T;ENSP00000298441:A213T;ENSP00000387969:A209T;ENSP00000380332:A427T	ENSP00000256861:A427T	A	-	1	0	ITIH5	7661863	0.733000	0.28132	0.002000	0.10522	0.111000	0.19643	1.263000	0.33004	0.052000	0.16007	0.462000	0.41574	GCC		0.617	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569		6	299	0	0	0	1.12685e-05	0	6	299				
MKI67	4288	broad.mit.edu	37	10	129904176	129904176	+	Silent	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr10:129904176G>T	ENST00000368654.3	-	13	6303	c.5928C>A	c.(5926-5928)atC>atA	p.I1976I	MKI67_ENST00000368653.3_Silent_p.I1616I	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1976	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)				ATACTTCTGTGATTTTGTCAT	0.473																																						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.(5926-5928)atC>atA		marker of proliferation Ki-67							193.0	198.0	196.0					10																	129904176		2203	4300	6503	SO:0001819	synonymous_variant	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129904176G>T	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.5928C>A	10.37:g.129904176G>T						MKI67_ENST00000368653.3_Silent_p.I1616I	p.I1976I	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	6303	-		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)	1976			16 X 122 AA approximate repeats.		Q5VWH2	Silent	SNP	ENST00000368654.3	37	c.5928C>A	CCDS7659.1																																																																																				0.473	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		16	1122	1	0	3.07112e-06	6.40141e-05	0.00037162	16	1122				
HEXA	3073	broad.mit.edu	37	15	72643552	72643552	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr15:72643552C>A	ENST00000268097.5	-	6	1097	c.594G>T	c.(592-594)ttG>ttT	p.L198F	HEXA_ENST00000566304.1_Missense_Mutation_p.L209F|HEXA_ENST00000429918.2_Missense_Mutation_p.L25F|HEXA_ENST00000457859.2_Missense_Mutation_p.L6F|RP11-106M3.3_ENST00000570175.1_RNA|HEXA_ENST00000567159.1_Missense_Mutation_p.L198F|RP11-106M3.2_ENST00000379915.4_RNA	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN	hexosaminidase A (alpha polypeptide)	198					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-N-acetylhexosaminidase activity (GO:0004563)|protein heterodimerization activity (GO:0046982)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						GGAACACGTTCAATTTATTGT	0.473																																						ENST00000268097.5																			0				breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						c.(592-594)ttG>ttT		hexosaminidase A (alpha polypeptide)							161.0	136.0	144.0					15																	72643552		2199	4297	6496	SO:0001583	missense	3073				cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity	g.chr15:72643552C>A	M13520	CCDS10243.1	15q24.1	2012-10-02			ENSG00000213614	ENSG00000213614	3.2.1.52		4878	protein-coding gene	gene with protein product	"""Tay Sachs disease"", ""GM2 gangliosidosis"""	606869				2952641, 3013851	Standard	NM_000520		Approved		uc002aun.4	P06865	OTTHUMG00000133445	ENST00000268097.5:c.594G>T	15.37:g.72643552C>A	ENSP00000268097:p.Leu198Phe					RP11-106M3.3_ENST00000570175.1_RNA|HEXA_ENST00000429918.2_Missense_Mutation_p.L25F|HEXA_ENST00000457859.2_Missense_Mutation_p.L6F|RP11-106M3.2_ENST00000379915.4_RNA|HEXA_ENST00000567159.1_Missense_Mutation_p.L198F|HEXA_ENST00000566304.1_Missense_Mutation_p.L209F	p.L198F	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN			6	1097	-			198					B4DKE7|E7ENH7|Q53HS8|Q6AI32	Missense_Mutation	SNP	ENST00000268097.5	37	c.594G>T	CCDS10243.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.755942	0.49362	.	.	ENSG00000213614	ENST00000268097;ENST00000457859;ENST00000429918	D;D;D	0.96913	-4.17;-4.17;-4.17	5.78	3.88	0.44766	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycoside hydrolase, family 20, catalytic core (1);Glycoside hydrolase, family 20 (1);	0.228413	0.45361	N	0.000368	D	0.86752	0.6008	N	0.04669	-0.19	0.38384	D	0.945222	B;B;B;B;B	0.15719	0.014;0.001;0.014;0.006;0.002	B;B;B;B;B	0.22152	0.038;0.019;0.038;0.023;0.018	T	0.77789	-0.2456	10	0.07482	T	0.82	-10.1601	5.9301	0.19134	0.0715:0.2888:0.5184:0.1213	.	25;209;25;78;198	E9PGL4;B4DVA7;B4DVL8;Q9BVJ8;P06865	.;.;.;.;HEXA_HUMAN	F	198;6;25	ENSP00000268097:L198F;ENSP00000398026:L6F;ENSP00000416187:L25F	ENSP00000268097:L198F	L	-	3	2	HEXA	70430606	0.986000	0.35501	1.000000	0.80357	0.993000	0.82548	0.207000	0.17395	0.750000	0.32877	0.655000	0.94253	TTG		0.473	HEXA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257317.2	NM_000520		9	348	1	0	1.12685e-05	1.12685e-05	0.00155022	9	348				
HDLBP	3069	broad.mit.edu	37	2	242194513	242194513	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr2:242194513C>A	ENST00000391975.1	-	9	1368	c.1141G>T	c.(1141-1143)Ggc>Tgc	p.G381C	HDLBP_ENST00000427183.2_Missense_Mutation_p.G348C|HDLBP_ENST00000310931.4_Missense_Mutation_p.G381C|HDLBP_ENST00000391976.2_Missense_Mutation_p.G381C	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	381	KH 4. {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)		CCTTTCTTGCCAATGATGAAA	0.478																																						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.(1141-1143)Ggc>Tgc		high density lipoprotein binding protein							196.0	209.0	205.0					2																	242194513		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.chr2:242194513C>A		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.1141G>T	2.37:g.242194513C>A	ENSP00000375836:p.Gly381Cys					HDLBP_ENST00000391976.2_Missense_Mutation_p.G381C|HDLBP_ENST00000310931.4_Missense_Mutation_p.G381C|HDLBP_ENST00000427183.2_Missense_Mutation_p.G348C	p.G381C	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)	9	1368	-		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)	381			KH 4.		B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Missense_Mutation	SNP	ENST00000391975.1	37	c.1141G>T	CCDS2547.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	34|34|34	5.374320|5.374320|5.374320	0.95923|0.95923|0.95923	.|.|.	.|.|.	ENSG00000115677|ENSG00000115677|ENSG00000115677	ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183|ENST00000453141|ENST00000373292	D;D;D;D|.|.	0.88741|.|.	-2.42;-2.42;-2.42;-2.42|.|.	5.93|5.93|5.93	5.93|5.93|5.93	0.95920|0.95920|0.95920	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	D|D|D	0.84543|0.84543|0.84543	0.5495|0.5495|0.5495	M|M|M	0.86651|0.86651|0.86651	2.83|2.83|2.83	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;D;D|.|.	0.89917|.|.	1.0;1.0;1.0|.|.	D;D;D|.|.	0.97110|.|.	1.0;1.0;1.0|.|.	D|D|D	0.85095|0.85095|0.85095	0.0954|0.0954|0.0954	10|5|5	0.87932|.|.	D|.|.	0|.|.	-37.045|-37.045|-37.045	20.3539|20.3539|20.3539	0.98825|0.98825|0.98825	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	381;348;381|.|.	B2R5V9;E7EM71;Q00341|.|.	.;.;VIGLN_HUMAN|.|.	C|F|L	381;381;381;348|258|189	ENSP00000375836:G381C;ENSP00000375837:G381C;ENSP00000312042:G381C;ENSP00000399139:G348C|.|.	ENSP00000312042:G381C|.|.	G|L|W	-|-|-	1|3|2	0|2|0	HDLBP|HDLBP|HDLBP	241843186|241843186|241843186	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.997000|0.997000|0.997000	0.53966|0.53966|0.53966	0.963000|0.963000|0.963000	0.63663|0.63663|0.63663	7.755000|7.755000|7.755000	0.85180|0.85180|0.85180	2.826000|2.826000|2.826000	0.97356|0.97356|0.97356	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GGC|TTG|TGG		0.478	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	NM_203346		12	1227	1	0	5.18039e-06	5.18039e-06	0.000838376	12	1227				
ATP2B2	491	broad.mit.edu	37	3	10452375	10452375	+	Silent	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr3:10452375G>T	ENST00000352432.4	-	2	393	c.324C>A	c.(322-324)ctC>ctA	p.L108L	ATP2B2_ENST00000360273.2_Silent_p.L108L|ATP2B2_ENST00000343816.4_Silent_p.L108L|ATP2B2_ENST00000383800.4_Silent_p.L108L|ATP2B2_ENST00000397077.1_Silent_p.L108L			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	108					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CCAGGATGATGAGCGTCACGT	0.552																																					Ovarian(125;1619 1709 15675 19819 38835)	ENST00000397077.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						c.(322-324)ctC>ctA		ATPase, Ca++ transporting, plasma membrane 2							186.0	198.0	194.0					3																	10452375		2203	4300	6503	SO:0001819	synonymous_variant	491				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	g.chr3:10452375G>T	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.324C>A	3.37:g.10452375G>T						ATP2B2_ENST00000360273.2_Silent_p.L108L|ATP2B2_ENST00000352432.4_Silent_p.L108L|ATP2B2_ENST00000343816.4_Silent_p.L108L|ATP2B2_ENST00000383800.4_Silent_p.L108L	p.L108L			Q01814	AT2B2_HUMAN			5	899	-			108					O00766|Q12994|Q16818	Silent	SNP	ENST00000352432.4	37	c.324C>A	CCDS33701.1																																																																																				0.552	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683		14	1155	1	0	3.86212e-05	3.86212e-05	0.00414285	14	1155				
VCPIP1	80124	broad.mit.edu	37	8	67578760	67578760	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr8:67578760C>A	ENST00000310421.4	-	1	692	c.434G>T	c.(433-435)cGg>cTg	p.R145L	C8orf44_ENST00000521889.1_5'Flank|C8orf44-SGK3_ENST00000519289.1_5'Flank|C8orf44_ENST00000519561.1_5'Flank	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	145					endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			AAGCTTGGCCCGGCCTGTCTG	0.517																																					NSCLC(179;265 2915 6144 43644)	ENST00000310421.4																			0				breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(433-435)cGg>cTg		valosin containing protein (p97)/p47 complex interacting protein 1							106.0	97.0	100.0					8																	67578760		2203	4300	6503	SO:0001583	missense	80124				protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity	g.chr8:67578760C>A	AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"""OTU domain containing"""	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.434G>T	8.37:g.67578760C>A	ENSP00000309031:p.Arg145Leu						p.R145L	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)		1	692	-		Lung NSC(129;0.142)|all_lung(136;0.227)	145					Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Missense_Mutation	SNP	ENST00000310421.4	37	c.434G>T	CCDS6192.1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.599893	0.46318	.	.	ENSG00000175073	ENST00000310421	T	0.33654	1.4	6.17	6.17	0.99709	.	0.250144	0.40554	N	0.001077	T	0.19406	0.0466	N	0.08118	0	0.35845	D	0.826367	B	0.23891	0.093	B	0.21151	0.033	T	0.13899	-1.0492	10	0.87932	D	0	-9.9394	8.1392	0.31073	0.0:0.8201:0.0:0.1799	.	145	Q96JH7	VCIP1_HUMAN	L	145	ENSP00000309031:R145L	ENSP00000309031:R145L	R	-	2	0	VCPIP1	67741314	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.008000	0.57103	2.941000	0.99782	0.655000	0.94253	CGG		0.517	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1			8	572	1	0	2.17888e-05	2.17888e-05	0.002749	8	572				
EMC1	23065	broad.mit.edu	37	1	19567555	19567555	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr1:19567555C>A	ENST00000477853.1	-	6	633	c.591G>T	c.(589-591)gtG>gtT	p.V197V	EMC1_ENST00000375208.3_Silent_p.V175V|RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000375199.3_Silent_p.V197V	NM_001271427.1|NM_001271428.1|NM_015047.2	NP_001258356.1|NP_001258357.1|NP_055862.1	Q8N766	EMC1_HUMAN	ER membrane protein complex subunit 1	197						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											TGACAATGTTCACATGGCTGA	0.502											OREG0013169	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000477853.1																			0											c.(589-591)gtG>gtT		ER membrane protein complex subunit 1							154.0	153.0	154.0					1																	19567555		2203	4300	6503	SO:0001819	synonymous_variant	23065							g.chr1:19567555C>A		CCDS190.1, CCDS59190.1, CCDS59191.1	1p36.13	2012-05-23	2012-05-23	2012-05-23	ENSG00000127463	ENSG00000127463			28957	protein-coding gene	gene with protein product			"""KIAA0090"""	KIAA0090		22119785	Standard	NM_015047		Approved		uc001bbo.4	Q8N766	OTTHUMG00000002497	ENST00000477853.1:c.591G>T	1.37:g.19567555C>A			OREG0013169	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	734	EMC1_ENST00000375208.3_Silent_p.V175V|EMC1_ENST00000375199.3_Silent_p.V197V	p.V197V	NM_001271428.1|NM_015047.1	NP_001258357.1|NP_055862.1					6	633	-								A8K6F3|Q14700|Q5TG62|Q63HL0|Q63HL3|Q8NBH8	Silent	SNP	ENST00000477853.1	37	c.591G>T	CCDS190.1																																																																																				0.502	EMC1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000007076.2	NM_015047		17	655	1	0	5.3912e-06	7.07596e-05	0.000838376	17	655				
BAGE2	85319	broad.mit.edu	37	21	11098863	11098863	+	RNA	SNP	A	A	G	rs75318310	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr21:11098863A>G	ENST00000470054.1	-	0	62							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ccagcctccaactcccccttc	0.627																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11098863A>G	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11098863A>G												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	62	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.627	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		11	141	0	0	0	3.86212e-05	0	11	141				
ACADM	34	broad.mit.edu	37	1	76198337	76198337	+	Nonsense_Mutation	SNP	G	G	T	rs147559466	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr1:76198337G>T	ENST00000370841.4	+	3	564	c.127G>T	c.(127-129)Gaa>Taa	p.E43*	ACADM_ENST00000541113.1_Nonsense_Mutation_p.E7*|ACADM_ENST00000420607.2_Nonsense_Mutation_p.E47*|ACADM_ENST00000370834.5_Nonsense_Mutation_p.E43*|ACADM_ENST00000543667.1_5'UTR	NM_000016.4|NM_001127328.1	NP_000007.1|NP_001120800.1	P11310	ACADM_HUMAN	acyl-CoA dehydrogenase, C-4 to C-12 straight chain	43					cardiac muscle cell differentiation (GO:0055007)|carnitine biosynthetic process (GO:0045329)|carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|glycogen biosynthetic process (GO:0005978)|liver development (GO:0001889)|medium-chain fatty acid catabolic process (GO:0051793)|medium-chain fatty acid metabolic process (GO:0051791)|oxidation-reduction process (GO:0055114)|post-embryonic development (GO:0009791)|regulation of gluconeogenesis (GO:0006111)|response to cold (GO:0009409)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|identical protein binding (GO:0042802)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)			breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18					Flavin adenine dinucleotide(DB03147)	AGAGTTCACCGAACAGCAGAA	0.358																																						ENST00000370841.4																			0				breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18	GRCh37	CM042915	ACADM	M	rs147559466	c.(127-129)Gaa>Taa		acyl-CoA dehydrogenase, C-4 to C-12 straight chain							90.0	103.0	99.0					1																	76198337		2202	4300	6502	SO:0001587	stop_gained	34				carnitine biosynthetic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|medium-chain fatty acid catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|identical protein binding|medium-chain-acyl-CoA dehydrogenase activity	g.chr1:76198337G>T	M16827	CCDS668.1, CCDS44165.1, CCDS65562.1, CCDS72807.1	1p31	2014-09-17	2010-04-30		ENSG00000117054	ENSG00000117054	1.3.99.3		89	protein-coding gene	gene with protein product		607008	"""acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain"""			3035565	Standard	NM_000016		Approved	MCAD, MCADH, ACAD1	uc009wbp.3	P11310	OTTHUMG00000009784	ENST00000370841.4:c.127G>T	1.37:g.76198337G>T	ENSP00000359878:p.Glu43*					ACADM_ENST00000370834.5_Nonsense_Mutation_p.E43*|ACADM_ENST00000420607.2_Nonsense_Mutation_p.E47*|ACADM_ENST00000541113.1_Nonsense_Mutation_p.E7*|ACADM_ENST00000543667.1_5'UTR	p.E43*	NM_000016.4|NM_001127328.1	NP_000007.1|NP_001120800.1	P11310	ACADM_HUMAN			3	564	+			43					Q5T4U4|Q9NYF1	Nonsense_Mutation	SNP	ENST00000370841.4	37	c.127G>T	CCDS668.1	.	.	.	.	.	.	.	.	.	.	G	41	8.742409	0.98937	.	.	ENSG00000117054	ENST00000370841;ENST00000370834;ENST00000541113;ENST00000420607	.	.	.	5.77	5.77	0.91146	.	0.048472	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	19.5899	0.95506	0.0:0.0:1.0:0.0	.	.	.	.	X	43;43;7;47	.	ENSP00000359871:E43X	E	+	1	0	ACADM	75970925	1.000000	0.71417	0.991000	0.47740	0.824000	0.46624	7.319000	0.79040	2.720000	0.93068	0.650000	0.86243	GAA		0.358	ACADM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026967.1			12	682	1	0	1.49906e-05	1.49906e-05	0.00199465	12	682				
DCP2	167227	broad.mit.edu	37	5	112321534	112321534	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr5:112321534G>T	ENST00000389063.2	+	2	254	c.56G>T	c.(55-57)cGa>cTa	p.R19L	DCP2_ENST00000543319.1_Intron|DCP2_ENST00000515408.1_Missense_Mutation_p.R19L	NM_152624.5	NP_689837	Q8IU60	DCP2_HUMAN	decapping mRNA 2	19					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)|RISC complex (GO:0016442)	exoribonuclease activity, producing 5'-phosphomonoesters (GO:0016896)|m7G(5')pppN diphosphatase activity (GO:0050072)|manganese ion binding (GO:0030145)|RNA binding (GO:0003723)			endometrium(3)|large_intestine(6)|lung(1)	10		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)		TTTGACAGCCGATTTATTTTG	0.358																																						ENST00000389063.2																			0				endometrium(3)|large_intestine(6)|lung(1)	10						c.(55-57)cGa>cTa		decapping mRNA 2							163.0	152.0	156.0					5																	112321534		2202	4300	6502	SO:0001583	missense	167227				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus|RNA-induced silencing complex	exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding|RNA binding	g.chr5:112321534G>T	AY135173	CCDS34210.1, CCDS56377.1	5q22	2013-05-02	2013-05-02		ENSG00000172795	ENSG00000172795	3.6.1.62	"""Nudix motif containing"""	24452	protein-coding gene	gene with protein product	"""nudix (nucleoside diphosphate linked moiety X)-type motif 20"", ""M(7)GpppN-mRNA hydrolase"""	609844	"""DCP2 decapping enzyme homolog (S. cerevisiae)"""			12218187, 12417715	Standard	NM_152624		Approved	NUDT20	uc003kqh.3	Q8IU60	OTTHUMG00000162853	ENST00000389063.2:c.56G>T	5.37:g.112321534G>T	ENSP00000373715:p.Arg19Leu					DCP2_ENST00000543319.1_Intron|DCP2_ENST00000515408.1_Missense_Mutation_p.R19L	p.R19L	NM_152624.5	NP_689837.2	Q8IU60	DCP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)	2	254	+		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)	19					C9J778|Q6P2D4|Q7Z5W5|Q8NBG5	Missense_Mutation	SNP	ENST00000389063.2	37	c.56G>T	CCDS34210.1	.	.	.	.	.	.	.	.	.	.	G	34	5.317160	0.95682	.	.	ENSG00000172795	ENST00000515408;ENST00000389063	T;T	0.71341	-0.56;-0.56	5.48	5.48	0.80851	mRNA decapping protein 2, Box A (1);	0.058834	0.64402	N	0.000001	D	0.88901	0.6563	M	0.93375	3.41	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91169	0.4967	10	0.87932	D	0	.	19.7147	0.96110	0.0:0.0:1.0:0.0	.	19	Q8IU60	DCP2_HUMAN	L	19	ENSP00000425770:R19L;ENSP00000373715:R19L	ENSP00000373715:R19L	R	+	2	0	DCP2	112349433	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.373000	0.97168	2.732000	0.93576	0.591000	0.81541	CGA		0.358	DCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370765.3	NM_152624		13	499	1	0	3.45872e-05	3.45872e-05	0.00404903	13	499				
SKA1	220134	broad.mit.edu	37	18	47918506	47918506	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr18:47918506C>A	ENST00000285116.3	+	7	868	c.657C>A	c.(655-657)ttC>ttA	p.F219L	SKA1_ENST00000488454.1_Missense_Mutation_p.F68L|SKA1_ENST00000398452.2_Missense_Mutation_p.F219L|SKA1_ENST00000417656.2_Missense_Mutation_p.F173L	NM_001039535.2|NM_145060.3	NP_001034624.1|NP_659497.1	Q96BD8	SKA1_HUMAN	spindle and kinetochore associated complex subunit 1	219					cell division (GO:0051301)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of microtubule polymerization or depolymerization (GO:0031110)	condensed chromosome outer kinetochore (GO:0000940)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|spindle microtubule (GO:0005876)	microtubule binding (GO:0008017)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(1)|prostate(1)	13						TAAAGGAGTTCACAACTTTGA	0.378																																						ENST00000285116.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(1)|prostate(1)	13						c.(655-657)ttC>ttA		spindle and kinetochore associated complex subunit 1							91.0	94.0	93.0					18																	47918506		2203	4300	6503	SO:0001583	missense	220134				cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytosol|spindle microtubule	microtubule binding	g.chr18:47918506C>A	BC015706	CCDS11946.1	18q21.1	2013-01-17	2009-08-19	2009-08-19	ENSG00000154839	ENSG00000154839			28109	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 24"""	C18orf24		17093495	Standard	NM_145060		Approved	MGC10200	uc002leu.3	Q96BD8	OTTHUMG00000132685	ENST00000285116.3:c.657C>A	18.37:g.47918506C>A	ENSP00000285116:p.Phe219Leu					SKA1_ENST00000488454.1_Missense_Mutation_p.F68L|SKA1_ENST00000417656.2_Missense_Mutation_p.F173L|SKA1_ENST00000398452.2_Missense_Mutation_p.F219L	p.F219L	NM_001039535.2|NM_145060.3	NP_001034624.1|NP_659497.1	Q96BD8	SKA1_HUMAN			7	868	+			219					B2R9Y6|B4E0P4	Missense_Mutation	SNP	ENST00000285116.3	37	c.657C>A	CCDS11946.1	.	.	.	.	.	.	.	.	.	.	C	18.32	3.598148	0.66332	.	.	ENSG00000154839	ENST00000285116;ENST00000417656;ENST00000398452	T;T;T	0.37752	1.18;1.18;1.18	6.04	5.18	0.71444	.	0.046452	0.85682	D	0.000000	T	0.47820	0.1466	L	0.61036	1.89	0.45762	D	0.998652	P;P	0.48089	0.884;0.905	P;P	0.54401	0.507;0.751	T	0.49254	-0.8959	10	0.62326	D	0.03	.	9.4762	0.38873	0.0:0.8409:0.0:0.1591	.	173;219	Q96BD8-2;Q96BD8	.;SKA1_HUMAN	L	219;173;219	ENSP00000285116:F219L;ENSP00000397222:F173L;ENSP00000381470:F219L	ENSP00000285116:F219L	F	+	3	2	SKA1	46172504	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	1.222000	0.32515	1.568000	0.49683	0.563000	0.77884	TTC		0.378	SKA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255982.2	NM_145060		9	508	1	0	0.00010058	0.00010058	0.00856336	9	508				
SUMO3	6612	broad.mit.edu	37	21	46233942	46233942	+	Silent	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr21:46233942G>T	ENST00000397898.3	-	2	181	c.99C>A	c.(97-99)atC>atA	p.I33I	SUMO3_ENST00000411651.2_Silent_p.I33I|SUMO3_ENST00000332859.6_Silent_p.I33I|SUMO3_ENST00000479153.1_5'UTR|SUMO3_ENST00000397893.3_Silent_p.I33I					small ubiquitin-like modifier 3											prostate(1)	1				Colorectal(79;0.058)		TGTGCCTCTTGATCTTGAACT	0.622																																						ENST00000332859.6																			0				prostate(1)	1						c.(97-99)atC>atA		small ubiquitin-like modifier 3							179.0	158.0	165.0					21																	46233942		2203	4300	6503	SO:0001819	synonymous_variant	6612				protein sumoylation	cytoplasm|kinetochore	protein binding	g.chr21:46233942G>T		CCDS33587.1, CCDS68220.1	21q22.3	2013-06-05	2013-06-05	2004-05-19	ENSG00000184900	ENSG00000184900			11124	protein-coding gene	gene with protein product		602231	"""SMT3 (suppressor of mif two 3, yeast) homolog 1"", ""SMT3 suppressor of mif two 3 homolog 3 (yeast)"", ""SMT3 suppressor of mif two 3 homolog 3 (S. cerevisiae)"""	SMT3H1		9119407	Standard	NM_006936		Approved	SMT3A	uc002zfz.1	P55854	OTTHUMG00000090256	ENST00000397898.3:c.99C>A	21.37:g.46233942G>T						SUMO3_ENST00000397893.3_Silent_p.I33I|SUMO3_ENST00000479153.1_5'UTR|SUMO3_ENST00000397898.3_Silent_p.I33I|SUMO3_ENST00000411651.2_Silent_p.I33I	p.I33I	NM_006936.2	NP_008867.2	P55854	SUMO3_HUMAN		Colorectal(79;0.058)	2	259	-			33			Ubiquitin-like.			Silent	SNP	ENST00000397898.3	37	c.99C>A																																																																																					0.622	SUMO3-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000206561.1			13	642	1	0	5.3912e-06	7.07596e-05	0.000838376	13	642				
ZNF429	353088	broad.mit.edu	37	19	21720483	21720483	+	Missense_Mutation	SNP	G	G	C			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr19:21720483G>C	ENST00000358491.4	+	4	1836	c.1628G>C	c.(1627-1629)gGc>gCc	p.G543A	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	543					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)			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						GAAGAATGTGGCAAAGCTTTT	0.363																																						ENST00000358491.4																			0				endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						c.(1627-1629)gGc>gCc		zinc finger protein 429							42.0	47.0	45.0					19																	21720483		2134	4270	6404	SO:0001583	missense	353088				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21720483G>C	AY269786	CCDS42537.1	19p12	2014-02-14			ENSG00000197013	ENSG00000197013		"""Zinc fingers, C2H2-type"", ""-"""	20817	protein-coding gene	gene with protein product							Standard	NM_001001415		Approved		uc002nqd.1	Q86V71	OTTHUMG00000182848	ENST00000358491.4:c.1628G>C	19.37:g.21720483G>C	ENSP00000351280:p.Gly543Ala					ZNF429_ENST00000597078.1_Intron	p.G543A	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN			4	1836	+			543					A6NLV7|Q9BZE6	Missense_Mutation	SNP	ENST00000358491.4	37	c.1628G>C	CCDS42537.1	.	.	.	.	.	.	.	.	.	.	.	6.378	0.437817	0.12104	.	.	ENSG00000197013	ENST00000358491	T	0.07021	3.23	0.876	0.876	0.19138	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27559	0.0677	M	0.87682	2.9	0.23653	N	0.997196	D	0.89917	1.0	D	0.71414	0.973	T	0.04140	-1.0974	9	0.87932	D	0	.	6.65	0.22957	0.0:0.0:1.0:0.0	.	543	Q86V71	ZN429_HUMAN	A	543	ENSP00000351280:G543A	ENSP00000351280:G543A	G	+	2	0	ZNF429	21512323	1.000000	0.71417	0.272000	0.24630	0.271000	0.26615	3.895000	0.56258	0.293000	0.22520	0.298000	0.19748	GGC		0.363	ZNF429-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463981.1	NM_001001415		7	493	0	0	0	0.00010058	0	7	493				
TIGD7	91151	broad.mit.edu	37	16	3350485	3350485	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr16:3350485C>A	ENST00000396862.1	-	2	1958	c.130G>T	c.(130-132)Gac>Tac	p.D44Y	TIGD7_ENST00000574598.1_5'Flank|TIGD7_ENST00000268674.2_Missense_Mutation_p.D44Y	NM_033208.3	NP_149985.2	Q6NT04	TIGD7_HUMAN	tigger transposable element derived 7	44	HTH psq-type. {ECO:0000255|PROSITE- ProRule:PRU00320}.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						TTTTTAATGTCATAAAATGTT	0.363																																						ENST00000396862.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						c.(130-132)Gac>Tac		tigger transposable element derived 7							103.0	103.0	103.0					16																	3350485		2197	4300	6497	SO:0001583	missense	91151				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr16:3350485C>A	AF251050	CCDS10500.1	16p13.11	2008-02-05			ENSG00000140993	ENSG00000140993			18331	protein-coding gene	gene with protein product		612969					Standard	NM_033208		Approved	Sancho	uc002cus.3	Q6NT04	OTTHUMG00000129325	ENST00000396862.1:c.130G>T	16.37:g.3350485C>A	ENSP00000380071:p.Asp44Tyr					TIGD7_ENST00000268674.2_Missense_Mutation_p.D44Y	p.D44Y	NM_033208.3	NP_149985.2	Q6NT04	TIGD7_HUMAN			2	1958	-			44			HTH psq-type.		Q9BXZ0	Missense_Mutation	SNP	ENST00000396862.1	37	c.130G>T	CCDS10500.1	.	.	.	.	.	.	.	.	.	.	C	13.04	2.117075	0.37339	.	.	ENSG00000140993	ENST00000426381;ENST00000396862;ENST00000268674	T;T	0.46819	0.86;0.86	4.29	3.34	0.38264	Homeodomain-related (1);Homeodomain-like (1);Helix-turn-helix, Psq-like (1);Centromere protein Cenp-B, DNA-binding domain 1 (1);	0.000000	0.36555	U	0.002540	T	0.45597	0.1350	N	0.19112	0.55	0.33142	D	0.544487	D	0.59767	0.986	P	0.61397	0.888	T	0.56908	-0.7901	10	0.54805	T	0.06	.	7.7276	0.28769	0.0:0.8858:0.0:0.1142	.	44	Q6NT04	TIGD7_HUMAN	Y	44	ENSP00000380071:D44Y;ENSP00000268674:D44Y	ENSP00000268674:D44Y	D	-	1	0	TIGD7	3290486	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.816000	0.38992	1.028000	0.39785	0.655000	0.94253	GAC		0.363	TIGD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251465.1	NM_033208		10	660	1	0	6.40141e-05	6.40141e-05	0.00606515	10	660				
MEP1A	4224	broad.mit.edu	37	6	46797278	46797278	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr6:46797278C>A	ENST00000230588.4	+	10	1123	c.1114C>A	c.(1114-1116)Cgc>Agc	p.R372S		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	372	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			AGGCAATGTTCGCAAGTTGGT	0.488																																						ENST00000230588.4																			0				NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						c.(1114-1116)Cgc>Agc		meprin A, alpha (PABA peptide hydrolase)							137.0	145.0	143.0					6																	46797278		2203	4300	6503	SO:0001583	missense	4224				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	g.chr6:46797278C>A		CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.1114C>A	6.37:g.46797278C>A	ENSP00000230588:p.Arg372Ser						p.R372S	NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	Lung(136;0.192)		10	1123	+			372			MAM.		A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Missense_Mutation	SNP	ENST00000230588.4	37	c.1114C>A	CCDS4918.1	.	.	.	.	.	.	.	.	.	.	C	13.75	2.330826	0.41297	.	.	ENSG00000112818	ENST00000230588	T	0.02067	4.47	5.77	4.89	0.63831	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.342421	0.34435	N	0.003979	T	0.03783	0.0107	M	0.74881	2.28	0.43522	D	0.995798	D;D	0.58970	0.984;0.984	P;P	0.61070	0.858;0.883	T	0.53753	-0.8394	10	0.19147	T	0.46	-12.7042	10.0322	0.42107	0.1364:0.7941:0.0:0.0695	.	400;372	B7ZL91;Q16819	.;MEP1A_HUMAN	S	372	ENSP00000230588:R372S	ENSP00000230588:R372S	R	+	1	0	MEP1A	46905237	0.011000	0.17503	0.879000	0.34478	0.799000	0.45148	0.779000	0.26746	1.410000	0.46936	0.650000	0.86243	CGC		0.488	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040803.1	NM_005588		13	638	1	0	2.31682e-05	2.31682e-05	0.00284922	13	638				
PRSS3P2	154754	broad.mit.edu	37	7	142482242	142482242	+	RNA	SNP	G	G	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr7:142482242G>A	ENST00000603901.1	+	0	622					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)										GGTCTGCAATGGACAGCTTCA	0.493																																						ENST00000603901.1																			0																																																			0							g.chr7:142482242G>A			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142482242G>A								NR_001296.3						0	622	+									RNA	SNP	ENST00000603901.1	37																																																																																						0.493	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		7	153	0	0	0	3.86212e-05	0	7	153				
MIEF2	125170	broad.mit.edu	37	17	18167206	18167206	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr17:18167206C>A	ENST00000323019.4	+	4	704	c.493C>A	c.(493-495)Cgg>Agg	p.R165R	MIEF2_ENST00000395706.2_Silent_p.R176R|MIEF2_ENST00000395704.4_Nonsense_Mutation_p.S140*|MIEF2_ENST00000577216.1_3'UTR	NM_001144900.1|NM_139162.3	NP_001138372.1|NP_631901.2	Q96C03	MID49_HUMAN	mitochondrial elongation factor 2	165					mitochondrion organization (GO:0007005)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein targeting to membrane (GO:0090314)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)											GGCCTACTTTCGGAGCAAGTT	0.672																																						ENST00000395704.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|lung(4)	9						c.(418-420)tCg>tAg									30.0	30.0	30.0					17																	18167206		2202	4298	6500	SO:0001819	synonymous_variant	0					integral to membrane	protein binding	g.chr17:18167206C>A	BC014973	CCDS11193.1, CCDS45624.1, CCDS45625.1	17p11.2	2013-09-23	2013-09-23	2013-09-23	ENSG00000177427	ENSG00000177427			17920	protein-coding gene	gene with protein product		615498	"""Smith-Magenis syndrome chromosome region, candidate 7"""	SMCR7		11997338, 21508961	Standard	NM_001144900		Approved	MGC23130, MiD49	uc010vxq.2	Q96C03	OTTHUMG00000059392	ENST00000323019.4:c.493C>A	17.37:g.18167206C>A						SMCR7_ENST00000395706.2_Silent_p.R176R|SMCR7_ENST00000577216.1_3'UTR|SMCR7_ENST00000323019.4_Silent_p.R165R	p.S140*			Q96C03	SMCR7_HUMAN			4	567	+	all_neural(463;0.228)		21					J3KPT3|Q6ZRD4|Q96N07	Nonsense_Mutation	SNP	ENST00000323019.4	37	c.419C>A	CCDS11193.1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.070652	0.55539	.	.	ENSG00000177427	ENST00000395704	.	.	.	5.32	3.21	0.36854	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-28.9718	13.8672	0.63596	0.4861:0.5139:0.0:0.0	.	.	.	.	X	140	.	.	S	+	2	0	SMCR7	18107931	0.169000	0.23002	0.090000	0.20809	0.716000	0.41182	0.796000	0.26986	0.465000	0.27167	0.563000	0.77884	TCG		0.672	MIEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132060.2	NM_139162		6	206	1	0	8.12818e-05	8.12818e-05	0.00746873	6	206				
COL14A1	7373	broad.mit.edu	37	8	121160132	121160132	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr8:121160132G>T	ENST00000297848.3	+	2	321	c.51G>T	c.(49-51)ttG>ttT	p.L17F	COL14A1_ENST00000247781.3_Missense_Mutation_p.L17F|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Missense_Mutation_p.L17F|COL14A1_ENST00000537875.1_Missense_Mutation_p.L17F	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CACCTTTTTTGGCAATTGTTT	0.408																																						ENST00000297848.3																			0				NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119						c.(49-51)ttG>ttT		collagen, type XIV, alpha 1							116.0	109.0	111.0					8																	121160132		2203	4300	6503	SO:0001583	missense	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121160132G>T		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.51G>T	8.37:g.121160132G>T	ENSP00000297848:p.Leu17Phe					COL14A1_ENST00000309791.4_Missense_Mutation_p.L17F|COL14A1_ENST00000537875.1_Missense_Mutation_p.L17F|COL14A1_ENST00000247781.3_Missense_Mutation_p.L17F|COL14A1_ENST00000432943.2_3'UTR	p.L17F	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		2	321	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		17						Missense_Mutation	SNP	ENST00000297848.3	37	c.51G>T	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	G	9.500	1.102890	0.20632	.	.	ENSG00000187955	ENST00000537875;ENST00000309791;ENST00000297848;ENST00000247781	T;D;D;D	0.88896	0.4;-2.23;-2.26;-2.44	5.92	5.04	0.67666	.	0.680937	0.13024	N	0.419846	D	0.82683	0.5090	N	0.24115	0.695	0.20563	N	0.999883	B	0.02656	0.0	B	0.04013	0.001	T	0.73927	-0.3828	10	0.66056	D	0.02	.	12.49	0.55895	0.0:0.0:0.8328:0.1672	.	17	Q05707	COEA1_HUMAN	F	17	ENSP00000443974:L17F;ENSP00000311809:L17F;ENSP00000297848:L17F;ENSP00000247781:L17F	ENSP00000247781:L17F	L	+	3	2	COL14A1	121229313	0.226000	0.23696	0.731000	0.30826	0.189000	0.23516	1.973000	0.40550	1.505000	0.48720	0.655000	0.94253	TTG		0.408	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		8	423	1	0	3.07112e-06	6.40141e-05	0.000526632	8	423				
ZNF599	148103	broad.mit.edu	37	19	35251059	35251059	+	Missense_Mutation	SNP	C	C	A	rs202116567		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr19:35251059C>A	ENST00000329285.8	-	4	1020	c.647G>T	c.(646-648)cGg>cTg	p.R216L		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	216					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(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			CTGTTGATGCCGAACAAGGGC	0.478																																						ENST00000329285.7																			0				endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24						c.(646-648)cGg>cTg		zinc finger protein 599							190.0	183.0	186.0					19																	35251059		2203	4300	6503	SO:0001583	missense	148103				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35251059C>A	AK055225	CCDS32991.1	19q13.13	2013-01-08				ENSG00000153896		"""Zinc fingers, C2H2-type"", ""-"""	26408	protein-coding gene	gene with protein product							Standard	NM_001007248		Approved	FLJ30663	uc010edn.1	Q96NL3		ENST00000329285.8:c.647G>T	19.37:g.35251059C>A	ENSP00000333802:p.Arg216Leu						p.R216L	NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.138)		4	1020	-	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		216					Q569K0|Q5PRG1	Missense_Mutation	SNP	ENST00000329285.8	37	c.647G>T	CCDS32991.1	.	.	.	.	.	.	.	.	.	.	C	10.31	1.313663	0.23908	.	.	ENSG00000153896	ENST00000392231;ENST00000329285;ENST00000392229	T	0.26373	1.74	2.26	0.0456	0.14231	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16171	0.0389	L	0.37897	1.145	0.34881	D	0.744589	B	0.12630	0.006	B	0.11329	0.006	T	0.14615	-1.0466	9	0.30854	T	0.27	.	4.902	0.13779	0.0:0.5163:0.0:0.4837	.	216	Q96NL3	ZN599_HUMAN	L	215;216;18	ENSP00000333802:R216L	ENSP00000333802:R216L	R	-	2	0	ZNF599	39942899	0.000000	0.05858	0.813000	0.32504	0.890000	0.51754	-1.158000	0.03153	0.080000	0.16959	0.313000	0.20887	CGG		0.478	ZNF599-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460648.2	XM_086046		9	942	1	0	1.12685e-05	1.12685e-05	0.00155022	9	942				
ZNF613	79898	broad.mit.edu	37	19	52447691	52447691	+	Silent	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr19:52447691G>T	ENST00000293471.6	+	6	1234	c.555G>T	c.(553-555)gtG>gtT	p.V185V	ZNF613_ENST00000391794.4_Silent_p.V149V	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	185					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)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		GAAATTCTGTGAATACAAATT	0.413																																						ENST00000293471.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(553-555)gtG>gtT		zinc finger protein 613							144.0	156.0	152.0					19																	52447691		2203	4300	6503	SO:0001819	synonymous_variant	79898				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52447691G>T	AK027565	CCDS12844.1, CCDS33089.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	25827	protein-coding gene	gene with protein product						12477932	Standard	NM_001031721		Approved	FLJ13590	uc002pxz.2	Q6PF04		ENST00000293471.6:c.555G>T	19.37:g.52447691G>T						ZNF613_ENST00000391794.4_Silent_p.V149V	p.V185V	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)	6	1234	+		all_neural(266;0.117)	185					Q96SS9	Silent	SNP	ENST00000293471.6	37	c.555G>T	CCDS33089.1																																																																																				0.413	ZNF613-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461104.2	NM_024840		16	1171	1	0	3.86212e-05	3.86212e-05	0.00414285	16	1171				
TCF23	150921	broad.mit.edu	37	2	27373013	27373013	+	Missense_Mutation	SNP	C	C	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr2:27373013C>T	ENST00000296096.5	+	2	375	c.245C>T	c.(244-246)gCc>gTc	p.A82V		NM_175769.2	NP_786951.1	Q7RTU1	TCF23_HUMAN	transcription factor 23	82	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				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)					CCTGAGAATGCCGCGCGGGAG	0.652																																						ENST00000296096.5																			0				large_intestine(2)|lung(11)|prostate(1)	14						c.(244-246)gCc>gTc		transcription factor 23							40.0	46.0	44.0					2																	27373013		2203	4300	6503	SO:0001583	missense	150921				cell differentiation|muscle organ development|regulation of transcription, DNA-dependent	nucleus		g.chr2:27373013C>T	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.245C>T	2.37:g.27373013C>T	ENSP00000296096:p.Ala82Val						p.A82V	NM_175769.2	NP_786951.1	Q7RTU1	TCF23_HUMAN			2	375	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		82					B2RNZ3	Missense_Mutation	SNP	ENST00000296096.5	37	c.245C>T	CCDS33163.1	.	.	.	.	.	.	.	.	.	.	C	33	5.221376	0.95139	.	.	ENSG00000163792	ENST00000296096	D	0.97906	-4.6	5.66	5.66	0.87406	Helix-loop-helix DNA-binding (5);	0.054766	0.64402	D	0.000001	D	0.98150	0.9389	M	0.65975	2.015	0.53688	D	0.999972	D	0.60160	0.987	P	0.60789	0.879	D	0.98239	1.0487	10	0.48119	T	0.1	-6.4656	17.2403	0.87011	0.0:1.0:0.0:0.0	.	82	Q7RTU1	TCF23_HUMAN	V	82	ENSP00000296096:A82V	ENSP00000296096:A82V	A	+	2	0	TCF23	27226517	1.000000	0.71417	0.879000	0.34478	0.676000	0.39594	5.750000	0.68712	2.680000	0.91292	0.561000	0.74099	GCC		0.652	TCF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324980.1	NM_175769		5	262	0	0	0	3.59834e-05	0	5	262				
NPM1	4869	broad.mit.edu	37	5	170827880	170827880	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr5:170827880C>A	ENST00000296930.5	+	8	921	c.620C>A	c.(619-621)tCa>tAa	p.S207*	NPM1_ENST00000517671.1_Nonsense_Mutation_p.S207*|NPM1_ENST00000393820.2_Nonsense_Mutation_p.S207*|NPM1_ENST00000351986.6_Intron	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	nucleophosmin (nucleolar phosphoprotein B23, numatrin)	207					cell aging (GO:0007569)|CENP-A containing nucleosome assembly (GO:0034080)|centrosome cycle (GO:0007098)|DNA repair (GO:0006281)|intracellular protein transport (GO:0006886)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of centrosome duplication (GO:0010826)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|nucleocytoplasmic transport (GO:0006913)|nucleosome assembly (GO:0006334)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of translation (GO:0045727)|protein localization (GO:0008104)|protein oligomerization (GO:0051259)|regulation of centriole replication (GO:0046599)|regulation of eIF2 alpha phosphorylation by dsRNA (GO:0060735)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of endoribonuclease activity (GO:0060699)|response to stress (GO:0006950)|ribosome assembly (GO:0042255)|signal transduction (GO:0007165)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle pole centrosome (GO:0031616)	histone binding (GO:0042393)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|unfolded protein binding (GO:0051082)		NPM1/ALK(632)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCACAAAAGTCAAATCAGAAT	0.388			"""T, F """	"""ALK, RARA, MLF1"""	"""NHL, APL, AML"""																																	ENST00000296930.5				Dom	yes		5	5q35	4869	"""T, F """	"""nucleophosmin (nucleolar phosphoprotein B23, numatrin)"""			L	"""ALK, RARA, MLF1"""		"""NHL, APL, AML"""	NPM1/ALK(632)	0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269						c.(619-621)tCa>tAa		nucleophosmin (nucleolar phosphoprotein B23, numatrin)							75.0	74.0	74.0					5																	170827880		2203	4300	6503	SO:0001587	stop_gained	4869				anti-apoptosis|cell aging|CenH3-containing nucleosome assembly at centromere|centrosome cycle|DNA repair|interspecies interaction between organisms|intracellular protein transport|negative regulation of cell proliferation|negative regulation of centrosome duplication|nucleocytoplasmic transport|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|regulation of endodeoxyribonuclease activity|regulation of endoribonuclease activity|ribosome assembly|signal transduction	nucleolus|nucleoplasm|ribonucleoprotein complex|spindle pole centrosome	histone binding|NF-kappaB binding|protein binding|protein heterodimerization activity|protein homodimerization activity|ribosomal large subunit binding|ribosomal small subunit binding|RNA binding|Tat protein binding|transcription coactivator activity|unfolded protein binding	g.chr5:170827880C>A	M26697	CCDS4376.1, CCDS4377.1, CCDS43399.1	5q35.1	2014-09-17			ENSG00000181163	ENSG00000181163			7910	protein-coding gene	gene with protein product	"""nucleolar phosphoprotein B23"", ""numatrin"", ""nucleophosmin/nucleoplasmin family, member 1"""	164040				8471164, 8122112	Standard	NM_002520		Approved	B23, NPM	uc003mbi.3	P06748	OTTHUMG00000130465	ENST00000296930.5:c.620C>A	5.37:g.170827880C>A	ENSP00000296930:p.Ser207*					NPM1_ENST00000351986.6_Intron|NPM1_ENST00000517671.1_Nonsense_Mutation_p.S207*|NPM1_ENST00000393820.2_Nonsense_Mutation_p.S207*	p.S207*	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		8	921	+	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	207					A8K3N7|B5BU00|D3DQL6|P08693|Q12826|Q13440|Q13441|Q14115|Q5EU94|Q5EU95|Q5EU96|Q5EU97|Q5EU98|Q5EU99|Q6V962|Q8WTW5|Q96AT6|Q96DC4|Q96EA5|Q9BYG9|Q9UDJ7	Nonsense_Mutation	SNP	ENST00000296930.5	37	c.620C>A	CCDS4376.1	.	.	.	.	.	.	.	.	.	.	C	37	6.559008	0.97663	.	.	ENSG00000181163	ENST00000517671;ENST00000296930;ENST00000393820	.	.	.	4.39	4.39	0.52855	.	0.540943	0.18436	U	0.141282	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.0557	0.64767	0.0:1.0:0.0:0.0	.	.	.	.	X	207	.	ENSP00000296930:S207X	S	+	2	0	NPM1	170760485	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.156000	0.58138	2.150000	0.67090	0.561000	0.74099	TCA		0.388	NPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252858.2	NM_002520		9	601	1	0	7.93312e-07	1.49906e-05	0.000154537	9	601				
GUF1	60558	broad.mit.edu	37	4	44693722	44693722	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr4:44693722C>A	ENST00000281543.5	+	13	1713	c.1519C>A	c.(1519-1521)Caa>Aaa	p.Q507K	RP11-700J17.1_ENST00000610260.1_RNA|GUF1_ENST00000506793.1_3'UTR	NM_021927.2	NP_068746.2			GUF1 GTPase homolog (S. cerevisiae)											breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						ATTTATTGATCAAAATAGAGT	0.318																																						ENST00000281543.5																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						c.(1519-1521)Caa>Aaa		GUF1 GTPase homolog (S. cerevisiae)							91.0	103.0	99.0					4																	44693722		2200	4279	6479	SO:0001583	missense	60558				translation	mitochondrial inner membrane	GTP binding|GTPase activity	g.chr4:44693722C>A		CCDS3468.1	4p13	2006-02-16			ENSG00000151806	ENSG00000151806			25799	protein-coding gene	gene with protein product						8553703	Standard	NM_021927		Approved	FLJ13220	uc003gww.4	Q8N442	OTTHUMG00000128608	ENST00000281543.5:c.1519C>A	4.37:g.44693722C>A	ENSP00000281543:p.Gln507Lys					GUF1_ENST00000506793.1_3'UTR	p.Q507K	NM_021927.2	NP_068746.2	Q8N442	GUF1_HUMAN			13	1713	+			507						Missense_Mutation	SNP	ENST00000281543.5	37	c.1519C>A	CCDS3468.1	.	.	.	.	.	.	.	.	.	.	C	12.23	1.876613	0.33162	.	.	ENSG00000151806	ENST00000281543	T	0.62105	0.05	5.11	2.31	0.28768	Elongation factor G/III/V (1);Translation elongation factor EFG/EF2, C-terminal (3);	0.289069	0.37348	N	0.002131	T	0.47948	0.1473	N	0.17278	0.47	0.26066	N	0.981284	B	0.19331	0.035	B	0.21151	0.033	T	0.35400	-0.9790	10	0.42905	T	0.14	-3.6133	17.6166	0.88069	0.0:0.3381:0.6619:0.0	.	507	Q8N442	GUF1_HUMAN	K	507	ENSP00000281543:Q507K	ENSP00000281543:Q507K	Q	+	1	0	GUF1	44388479	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.451000	0.66632	0.218000	0.20820	-0.165000	0.13383	CAA		0.318	GUF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250469.3	NM_021927		12	1033	1	0	9.31168e-06	9.31168e-06	0.00133376	12	1033				
RGS13	6003	broad.mit.edu	37	1	192627387	192627387	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr1:192627387C>A	ENST00000391995.2	+	6	472	c.184C>A	c.(184-186)Caa>Aaa	p.Q62K	RGS13_ENST00000482095.1_3'UTR|RGS13_ENST00000543215.1_Missense_Mutation_p.Q62K	NM_002927.4	NP_002918.1	O14921	RGS13_HUMAN	regulator of G-protein signaling 13	62	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|skin(1)	19						CGAGAATATTCAATTCTGGAT	0.383																																						ENST00000391995.2																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|skin(1)	19						c.(184-186)Caa>Aaa		regulator of G-protein signaling 13							85.0	85.0	85.0					1																	192627387		2203	4300	6503	SO:0001583	missense	6003					plasma membrane	GTPase activator activity|signal transducer activity	g.chr1:192627387C>A	AF030107	CCDS1376.1	1q31.2	2008-02-05	2007-08-14		ENSG00000127074	ENSG00000127074		"""Regulators of G-protein signaling"""	9995	protein-coding gene	gene with protein product		607190	"""regulator of G-protein signalling 13"""			11875076	Standard	NM_144766		Approved		uc001gsk.3	O14921	OTTHUMG00000035601	ENST00000391995.2:c.184C>A	1.37:g.192627387C>A	ENSP00000375853:p.Gln62Lys					RGS13_ENST00000482095.1_3'UTR|RGS13_ENST00000543215.1_Missense_Mutation_p.Q62K	p.Q62K	NM_002927.4	NP_002918.1	O14921	RGS13_HUMAN			6	472	+			62			RGS.		Q6PGR2|Q8TD63|Q9BX45	Missense_Mutation	SNP	ENST00000391995.2	37	c.184C>A	CCDS1376.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.291914	0.40594	.	.	ENSG00000127074	ENST00000391995;ENST00000543215	T;T	0.01871	4.59;4.59	5.88	0.446	0.16602	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);Regulator of G-protein signaling, domain 1 (1);	0.251398	0.46758	N	0.000278	T	0.01092	0.0036	N	0.03177	-0.4	0.30253	N	0.79391	B	0.02656	0.0	B	0.10450	0.005	T	0.38023	-0.9680	10	0.38643	T	0.18	.	6.0463	0.19762	0.415:0.4318:0.1532:0.0	.	62	O14921	RGS13_HUMAN	K	62	ENSP00000375853:Q62K;ENSP00000442837:Q62K	ENSP00000375853:Q62K	Q	+	1	0	RGS13	190894010	1.000000	0.71417	0.993000	0.49108	0.950000	0.60333	1.591000	0.36665	0.108000	0.17862	-0.425000	0.05940	CAA		0.383	RGS13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086400.1	NM_002927		8	355	1	0	2.17888e-05	2.17888e-05	0.002749	8	355				
NAE1	8883	broad.mit.edu	37	16	66842917	66842917	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr16:66842917C>A	ENST00000290810.3	-	16	1309	c.1212G>T	c.(1210-1212)ttG>ttT	p.L404F	NAE1_ENST00000359087.4_Missense_Mutation_p.L407F|NAE1_ENST00000394074.2_Missense_Mutation_p.L315F|NAE1_ENST00000379463.2_Missense_Mutation_p.L398F			Q13564	ULA1_HUMAN	NEDD8 activating enzyme E1 subunit 1	404					mitotic DNA replication checkpoint (GO:0033314)|neuron apoptotic process (GO:0051402)|protein neddylation (GO:0045116)|regulation of apoptotic process (GO:0042981)|regulation of neuron apoptotic process (GO:0043523)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|protein heterodimerization activity (GO:0046982)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	Adenosine triphosphate(DB00171)	TAATTGTATCCAAACCATATT	0.308																																						ENST00000379463.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1192-1194)ttG>ttT		NEDD8 activating enzyme E1 subunit 1	Adenosine triphosphate(DB00171)						88.0	83.0	84.0					16																	66842917		2200	4300	6500	SO:0001583	missense	8883				apoptosis|cell cycle|DNA replication|mitotic cell cycle DNA replication checkpoint|protein neddylation|signal transduction	cytoplasm|insoluble fraction|plasma membrane	catalytic activity|protein heterodimerization activity	g.chr16:66842917C>A	U50939	CCDS10820.1, CCDS42171.1, CCDS42172.1, CCDS67050.1	16q22	2013-09-26	2007-12-11	2007-12-11	ENSG00000159593	ENSG00000159593		"""Ubiquitin-like modifier activating enzymes"""	621	protein-coding gene	gene with protein product		603385	"""amyloid beta precursor protein binding protein 1, 59kDa"""	APPBP1		8626687, 12740388	Standard	XM_005256215		Approved	ula-1	uc002eqf.3	Q13564	OTTHUMG00000137513	ENST00000290810.3:c.1212G>T	16.37:g.66842917C>A	ENSP00000290810:p.Leu404Phe					NAE1_ENST00000394074.2_Missense_Mutation_p.L315F|NAE1_ENST00000290810.3_Missense_Mutation_p.L404F|NAE1_ENST00000359087.4_Missense_Mutation_p.L407F	p.L398F	NM_001018159.1	NP_001018169.1	Q13564	ULA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	17	1386	-		Ovarian(137;0.0563)	404					A6NCK0|A6NFN4|A8MU28|B2R700|B3KUP9	Missense_Mutation	SNP	ENST00000290810.3	37	c.1194G>T	CCDS10820.1	.	.	.	.	.	.	.	.	.	.	C	11.82	1.753914	0.31046	.	.	ENSG00000159593	ENST00000359087;ENST00000290810;ENST00000379463;ENST00000394074	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	5.14	3.2	0.36748	Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.074073	0.56097	D	0.000034	T	0.31482	0.0798	N	0.25647	0.755	0.48975	D	0.999734	B;B;B	0.25609	0.002;0.065;0.13	B;B;B	0.23716	0.004;0.041;0.048	T	0.13791	-1.0496	10	0.51188	T	0.08	-11.51	7.5134	0.27587	0.0:0.7108:0.0:0.2892	.	407;404;398	A6NCK0;Q13564;A6NFN4	.;ULA1_HUMAN;.	F	407;404;398;315	ENSP00000351990:L407F;ENSP00000290810:L404F;ENSP00000368776:L398F;ENSP00000377637:L315F	ENSP00000290810:L404F	L	-	3	2	NAE1	65400418	0.997000	0.39634	0.983000	0.44433	0.906000	0.53458	0.839000	0.27586	1.167000	0.42706	0.650000	0.86243	TTG		0.308	NAE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268832.1	NM_003905		8	557	1	0	3.09899e-07	1.12685e-05	6.13498e-05	8	557				
ZC2HC1A	51101	broad.mit.edu	37	8	79590841	79590841	+	Missense_Mutation	SNP	G	G	T	rs201638521		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr8:79590841G>T	ENST00000263849.4	+	3	239	c.137G>T	c.(136-138)cGg>cTg	p.R46L	ZC2HC1A_ENST00000521176.1_3'UTR	NM_016010.2	NP_057094.2	Q96GY0	ZC21A_HUMAN	zinc finger, C2HC-type containing 1A	46							metal ion binding (GO:0046872)										ACTAAAAAACGGAAGACTTTT	0.368																																						ENST00000263849.4																			0											c.(136-138)cGg>cTg		zinc finger, C2HC-type containing 1A							125.0	133.0	130.0					8																	79590841		2203	4300	6503	SO:0001583	missense	51101							g.chr8:79590841G>T		CCDS6223.1	8q21.11	2013-01-10	2012-02-03	2012-02-03	ENSG00000104427	ENSG00000104427		"""Zinc fingers, C2HC-type containing"""	24277	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 70"", ""family with sequence similarity 164, member A"""	C8orf70, FAM164A		10810093	Standard	NM_016010		Approved	CGI-62	uc003ybd.3	Q96GY0	OTTHUMG00000164619	ENST00000263849.4:c.137G>T	8.37:g.79590841G>T	ENSP00000263849:p.Arg46Leu					ZC2HC1A_ENST00000521176.1_3'UTR	p.R46L	NM_016010.2	NP_057094.2	Q96GY0	F164A_HUMAN			3	239	+			46					Q9Y372	Missense_Mutation	SNP	ENST00000263849.4	37	c.137G>T	CCDS6223.1	.	.	.	.	.	.	.	.	.	.	G	34	5.329823	0.95733	.	.	ENSG00000104427	ENST00000263849	T	0.60040	0.22	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	D	0.83372	0.5240	M	0.93420	3.415	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86618	0.1877	9	.	.	.	-10.7436	19.8459	0.96707	0.0:0.0:1.0:0.0	.	46	Q96GY0	F164A_HUMAN	L	46	ENSP00000263849:R46L	.	R	+	2	0	FAM164A	79753396	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.144000	0.94629	2.788000	0.95919	0.585000	0.79938	CGG		0.368	ZC2HC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379423.2	NM_016010		13	1019	1	0	8.12818e-05	8.12818e-05	0.00746873	13	1019				
SLC9C1	285335	broad.mit.edu	37	3	111996678	111996678	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr3:111996678C>A	ENST00000305815.5	-	5	600	c.348G>T	c.(346-348)ttG>ttT	p.L116F	SLC9C1_ENST00000467397.1_5'Flank|SLC9C1_ENST00000487372.1_Missense_Mutation_p.L116F	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	116					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										TATAATTAACCAAAAAGCCGG	0.313																																						ENST00000305815.5																			0											c.(346-348)ttG>ttT		solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1							54.0	61.0	58.0					3																	111996678		2197	4298	6495	SO:0001583	missense	285335				cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity	g.chr3:111996678C>A	AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"""Solute carriers"""	31401	protein-coding gene	gene with protein product	"""sperm-NHE"""	612738	"""solute carrier family 9, isoform 10"", ""solute carrier family 9, member 10"""	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.348G>T	3.37:g.111996678C>A	ENSP00000306627:p.Leu116Phe					SLC9C1_ENST00000487372.1_Missense_Mutation_p.L116F	p.L116F	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN			5	600	-			116					Q6ZRP4|Q7RTP2	Missense_Mutation	SNP	ENST00000305815.5	37	c.348G>T	CCDS33817.1	.	.	.	.	.	.	.	.	.	.	C	1.082	-0.666749	0.03428	.	.	ENSG00000172139	ENST00000305815;ENST00000487372;ENST00000486574	T;T;T	0.03004	4.08;4.08;4.08	5.13	-7.8	0.01214	Cation/H+ exchanger (1);	1.635720	0.03751	N	0.256565	T	0.02304	0.0071	L	0.27053	0.805	0.09310	N	1	B;B	0.15141	0.012;0.005	B;B	0.16289	0.015;0.011	T	0.43475	-0.9389	10	0.38643	T	0.18	.	0.9292	0.01331	0.4377:0.1391:0.1927:0.2305	.	116;116	Q4G0N8-2;Q4G0N8	.;S9A10_HUMAN	F	116;116;43	ENSP00000306627:L116F;ENSP00000420688:L116F;ENSP00000417274:L43F	ENSP00000306627:L116F	L	-	3	2	SLC9A10	113479368	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.968000	0.00669	-1.204000	0.02648	-1.513000	0.00942	TTG		0.313	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1	NM_183061		9	506	1	0	3.86212e-05	3.86212e-05	0.00414285	9	506				
SYCP1	6847	broad.mit.edu	37	1	115455754	115455754	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr1:115455754C>A	ENST00000369522.3	+	19	1870	c.1630C>A	c.(1630-1632)Cag>Aag	p.Q544K	SYCP1_ENST00000369518.1_Missense_Mutation_p.Q544K	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	544					chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACTCAAGAATCAGCAAGAAGA	0.368																																						ENST00000369522.3																		RGS22/SYCP1(2)	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48						c.(1630-1632)Cag>Aag		synaptonemal complex protein 1							102.0	109.0	107.0					1																	115455754		2203	4298	6501	SO:0001583	missense	6847				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	g.chr1:115455754C>A	D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"""cancer/testis antigen 8"""	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.1630C>A	1.37:g.115455754C>A	ENSP00000358535:p.Gln544Lys					SYCP1_ENST00000369518.1_Missense_Mutation_p.Q544K	p.Q544K	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	19	1870	+	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)	544					O14963|Q5VXJ6	Missense_Mutation	SNP	ENST00000369522.3	37	c.1630C>A	CCDS879.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.513309	0.27123	.	.	ENSG00000198765	ENST00000369522;ENST00000536734;ENST00000455987;ENST00000369518	T;T;T	0.42900	0.96;0.96;0.96	5.34	4.42	0.53409	.	0.643340	0.15076	N	0.281944	T	0.16041	0.0386	L	0.36672	1.1	0.20926	N	0.99982	B;B	0.23128	0.08;0.08	B;B	0.23018	0.043;0.043	T	0.04191	-1.0970	10	0.27785	T	0.31	1.0825	10.3177	0.43747	0.0:0.9063:0.0:0.0937	.	544;544	B7ZLS9;Q15431	.;SYCP1_HUMAN	K	544	ENSP00000358535:Q544K;ENSP00000410011:Q544K;ENSP00000358531:Q544K	ENSP00000358531:Q544K	Q	+	1	0	SYCP1	115257277	0.525000	0.26290	1.000000	0.80357	0.739000	0.42172	1.046000	0.30354	2.476000	0.83614	0.655000	0.94253	CAG		0.368	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033386.1	NM_003176		11	665	1	0	0.00010058	0.00010058	0.00856336	11	665				
RGS12	6002	broad.mit.edu	37	4	3419185	3419185	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr4:3419185G>T	ENST00000344733.5	+	9	3582	c.2678G>T	c.(2677-2679)cGg>cTg	p.R893L	RGS12_ENST00000508158.1_3'UTR|RGS12_ENST00000336727.3_Missense_Mutation_p.R893L|RGS12_ENST00000306648.7_Missense_Mutation_p.R291L|RGS12_ENST00000382788.3_Missense_Mutation_p.R893L|RGS12_ENST00000338806.4_Missense_Mutation_p.R245L|RGS12_ENST00000538395.1_Missense_Mutation_p.R235L	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	893					positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GAGAAGAAGCGGAAAGGCGCG	0.552																																						ENST00000336727.3																			0				autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(2677-2679)cGg>cTg		regulator of G-protein signaling 12							55.0	57.0	56.0					4																	3419185		2203	4300	6503	SO:0001583	missense	6002					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	g.chr4:3419185G>T	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"""Regulators of G-protein signaling"""	9994	protein-coding gene	gene with protein product		602512	"""regulator of G-protein signalling 12"""			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.2678G>T	4.37:g.3419185G>T	ENSP00000339381:p.Arg893Leu					RGS12_ENST00000338806.4_Missense_Mutation_p.R245L|RGS12_ENST00000306648.7_Missense_Mutation_p.R291L|RGS12_ENST00000538395.1_Missense_Mutation_p.R235L|RGS12_ENST00000382788.3_Missense_Mutation_p.R893L|RGS12_ENST00000344733.5_Missense_Mutation_p.R893L|RGS12_ENST00000508158.1_3'UTR	p.R893L	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	9	3582	+			893					B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Missense_Mutation	SNP	ENST00000344733.5	37	c.2678G>T	CCDS3366.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.440438	0.43326	.	.	ENSG00000159788	ENST00000344733;ENST00000336727;ENST00000382788;ENST00000306648;ENST00000338806;ENST00000538395	T;T;T;T;T;T	0.37235	1.49;1.49;1.49;1.21;1.23;1.26	4.34	4.34	0.51931	.	0.065361	0.64402	D	0.000019	T	0.49508	0.1561	M	0.65975	2.015	0.09310	N	0.999992	P;D;P;D;D;B;P;D;P	0.60575	0.896;0.988;0.802;0.988;0.977;0.393;0.896;0.968;0.937	P;P;P;P;D;B;P;P;P	0.63703	0.604;0.724;0.483;0.724;0.917;0.169;0.676;0.734;0.822	T	0.39418	-0.9615	10	0.42905	T	0.14	-19.7633	6.3948	0.21607	0.2155:0.0:0.7845:0.0	.	235;92;235;92;235;245;291;893;893	B7Z764;B3KVS7;B7Z8B8;A8K440;O14924-2;O14924-3;Q8WX95;O14924;O14924-4	.;.;.;.;.;.;.;RGS12_HUMAN;.	L	893;893;893;291;245;235	ENSP00000339381:R893L;ENSP00000338509:R893L;ENSP00000372238:R893L;ENSP00000304459:R291L;ENSP00000342133:R245L;ENSP00000438888:R235L	ENSP00000304459:R291L	R	+	2	0	RGS12	3388983	0.980000	0.34600	0.041000	0.18516	0.357000	0.29423	4.395000	0.59678	1.982000	0.57802	0.563000	0.77884	CGG		0.552	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	NM_002926		8	275	1	0	0.00010058	0.00010058	0.00856336	8	275				
TIMM21	29090	broad.mit.edu	37	18	71822391	71822391	+	Nonsense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr18:71822391G>T	ENST00000169551.6	+	2	611	c.313G>T	c.(313-315)Gga>Tga	p.G105*	TIMM21_ENST00000580087.1_Nonsense_Mutation_p.G105*	NM_014177.2	NP_054896.2	Q9BVV7	TIM21_HUMAN	translocase of inner mitochondrial membrane 21 homolog (yeast)	105					cellular protein metabolic process (GO:0044267)|mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex IV assembly (GO:0033617)|protein import into mitochondrial matrix (GO:0030150)|protein targeting to mitochondrion (GO:0006626)	integral component of membrane (GO:0016021)|mitochondrial inner membrane presequence translocase complex (GO:0005744)											GAAAGAAGCCGGAAGAGATTT	0.428																																						ENST00000580087.1																			0											c.(313-315)Gga>Tga		translocase of inner mitochondrial membrane 21 homolog (yeast)							97.0	104.0	102.0					18																	71822391		2203	4300	6503	SO:0001587	stop_gained	29090				protein transport|transmembrane transport	integral to membrane|mitochondrial membrane		g.chr18:71822391G>T	BC000892	CCDS12003.1	18q22.3	2011-11-25	2011-11-25	2011-11-25	ENSG00000075336	ENSG00000075336			25010	protein-coding gene	gene with protein product		615180	"""chromosome 18 open reading frame 55"""	C18orf55		11042152	Standard	NM_014177		Approved	HSPC154, TIM21	uc010dqr.1	Q9BVV7	OTTHUMG00000132844	ENST00000169551.6:c.313G>T	18.37:g.71822391G>T	ENSP00000169551:p.Gly105*					TIMM21_ENST00000169551.6_Nonsense_Mutation_p.G105*	p.G105*			Q9BVV7	TI21L_HUMAN			2	599	+			105					Q9P010	Nonsense_Mutation	SNP	ENST00000169551.6	37	c.313G>T	CCDS12003.1	.	.	.	.	.	.	.	.	.	.	G	40	8.413223	0.98801	.	.	ENSG00000075336	ENST00000169551	.	.	.	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-28.1893	18.8678	0.92300	0.0:0.0:1.0:0.0	.	.	.	.	X	105	.	ENSP00000169551:G105X	G	+	1	0	C18orf55	69973371	1.000000	0.71417	0.983000	0.44433	0.944000	0.59088	9.260000	0.95568	2.532000	0.85374	0.650000	0.86243	GGA		0.428	TIMM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256318.1	NM_014177		7	495	1	0	2.17888e-05	2.17888e-05	0.002749	7	495				
SPAG17	200162	broad.mit.edu	37	1	118616493	118616493	+	Missense_Mutation	SNP	G	G	T	rs146282295		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr1:118616493G>T	ENST00000336338.5	-	17	2434	c.2369C>A	c.(2368-2370)cCg>cAg	p.P790Q		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	790						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CAGTACTTTCGGTTTAAAATG	0.428																																						ENST00000336338.5																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123						c.(2368-2370)cCg>cAg		sperm associated antigen 17							164.0	156.0	159.0					1																	118616493		2203	4300	6503	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118616493G>T		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.2369C>A	1.37:g.118616493G>T	ENSP00000337804:p.Pro790Gln						p.P790Q	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	17	2434	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	790					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.2369C>A	CCDS899.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.828388	0.71143	.	.	ENSG00000155761	ENST00000336338	T	0.28454	1.61	5.35	5.35	0.76521	.	0.100758	0.64402	D	0.000001	T	0.50871	0.1641	M	0.71581	2.175	0.37958	D	0.932887	D	0.89917	1.0	D	0.91635	0.999	T	0.54275	-0.8318	10	0.72032	D	0.01	.	19.4213	0.94723	0.0:0.0:1.0:0.0	.	790	Q6Q759	SPG17_HUMAN	Q	790	ENSP00000337804:P790Q	ENSP00000337804:P790Q	P	-	2	0	SPAG17	118418016	1.000000	0.71417	0.954000	0.39281	0.901000	0.52897	5.245000	0.65405	2.669000	0.90835	0.650000	0.86243	CCG		0.428	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		10	633	1	0	6.40141e-05	6.40141e-05	0.00606515	10	633				
TBC1D3P2	440452	broad.mit.edu	37	17	60342186	60342186	+	RNA	SNP	T	T	C			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr17:60342186T>C	ENST00000581291.1	-	0	1967									TBC1 domain family, member 3 pseudogene 2											breast(2)|kidney(1)|lung(2)	5						GCTGGGGGTGTTGGGAGGGGC	0.498																																						ENST00000581291.1																			0				breast(2)|kidney(1)|lung(2)	5																																														0							g.chr17:60342186T>C			17q23.2	2009-05-14				ENSG00000188755			27783	pseudogene	pseudogene							Standard	NR_027486		Approved		uc002izq.2				17.37:g.60342186T>C														0	1967	-									RNA	SNP	ENST00000581291.1	37																																																																																						0.498	TBC1D3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445021.1	NR_027486		4	83	0	0	0	2.56e-06	0	4	83				
BMS1P20	96610	broad.mit.edu	37	22	22661478	22661478	+	RNA	SNP	T	T	G			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr22:22661478T>G	ENST00000426066.1	+	0	368					NR_027293.1				BMS1 pseudogene 20																		CAGATGCGTCTGAAGAAACAT	0.488																																						ENST00000426066.1																			0																																																			0							g.chr22:22661478T>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22661478T>G								NR_027293.1						0	368	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.488	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			11	287	0	0	0	2.27731e-05	0	11	287				
OSER1	51526	broad.mit.edu	37	20	42835547	42835547	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr20:42835547G>T	ENST00000372970.2	-	4	231	c.51C>A	c.(49-51)ttC>ttA	p.F17L	OSER1_ENST00000255174.2_Missense_Mutation_p.F17L			Q9NX31	OSER1_HUMAN	oxidative stress responsive serine-rich 1	17					cellular response to hydrogen peroxide (GO:0070301)												TTAATTTTTTGAAAGCAGTCT	0.323																																						ENST00000372970.2																			0											c.(49-51)ttC>ttA		oxidative stress responsive serine-rich 1							101.0	93.0	96.0					20																	42835547		2203	4300	6503	SO:0001583	missense	51526							g.chr20:42835547G>T	AL035447	CCDS13327.1	20q13.11	2013-05-17	2013-05-17	2013-05-17	ENSG00000132823	ENSG00000132823			16105	protein-coding gene	gene with protein product	"""peroxide-inducible transcript 1"", ""oxidative stress-responsive 1"""		"""chromosome 20 open reading frame 111"""	C20orf111		17148688	Standard	NM_016470		Approved	dJ1183I21.1, HSPC207, Perit1, Osr1		Q9NX31	OTTHUMG00000032518	ENST00000372970.2:c.51C>A	20.37:g.42835547G>T	ENSP00000362061:p.Phe17Leu					OSER1_ENST00000255174.2_Missense_Mutation_p.F17L	p.F17L							4	231	-								B2RCK4|O95912|Q9NZ84|Q9P0R8	Missense_Mutation	SNP	ENST00000372970.2	37	c.51C>A	CCDS13327.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.295360	0.81025	.	.	ENSG00000132823	ENST00000255174;ENST00000372970	T;T	0.61392	0.11;0.11	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.70116	0.3187	L	0.52759	1.655	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.71427	-0.4596	10	0.87932	D	0	-16.4206	13.2149	0.59854	0.073:0.0:0.927:0.0	.	17	Q9NX31	CT111_HUMAN	L	17	ENSP00000255174:F17L;ENSP00000362061:F17L	ENSP00000255174:F17L	F	-	3	2	C20orf111	42268961	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.742000	0.55097	2.802000	0.96397	0.650000	0.86243	TTC		0.323	OSER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079334.2	NM_016470		11	490	1	0	1.3612e-06	2.31682e-05	0.00025694	11	490				
EXOC2	55770	broad.mit.edu	37	6	549213	549213	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr6:549213C>A	ENST00000230449.4	-	22	2335	c.2200G>T	c.(2200-2202)Gaa>Taa	p.E734*	EXOC2_ENST00000448181.3_Nonsense_Mutation_p.E329*	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	734					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		TTGTGCTTTTCAAAATGTTCT	0.388																																						ENST00000230449.4																			0				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46						c.(2200-2202)Gaa>Taa		exocyst complex component 2							207.0	197.0	201.0					6																	549213		2203	4300	6503	SO:0001587	stop_gained	55770				exocytosis|protein transport			g.chr6:549213C>A	AJ420556	CCDS34327.1	6p25.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000112685	ENSG00000112685			24968	protein-coding gene	gene with protein product		615329	"""SEC5-like 1 (S. cerevisiae)"""	SEC5L1		12575951, 12459492	Standard	NM_018303		Approved	FLJ11026, Sec5p	uc003mtd.4	Q96KP1	OTTHUMG00000137437	ENST00000230449.4:c.2200G>T	6.37:g.549213C>A	ENSP00000230449:p.Glu734*					EXOC2_ENST00000448181.3_Nonsense_Mutation_p.E329*	p.E734*	NM_018303.4	NP_060773.3	Q96KP1	EXOC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)	22	2335	-	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)	734					B2RBE6|Q5JPC8|Q96AN6|Q9NUZ8|Q9UJM7	Nonsense_Mutation	SNP	ENST00000230449.4	37	c.2200G>T	CCDS34327.1	.	.	.	.	.	.	.	.	.	.	C	41	9.092450	0.99062	.	.	ENSG00000112685	ENST00000230449;ENST00000448181	.	.	.	5.41	5.41	0.78517	.	0.047763	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	-11.731	19.1915	0.93669	0.0:1.0:0.0:0.0	.	.	.	.	X	734;329	.	ENSP00000230449:E734X	E	-	1	0	EXOC2	494213	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.004000	0.76317	2.515000	0.84797	0.655000	0.94253	GAA		0.388	EXOC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039627.1	NM_018303		12	671	1	0	6.40141e-05	6.40141e-05	0.00606515	12	671				
UBB	7314	broad.mit.edu	37	17	16285497	16285497	+	Silent	SNP	A	A	G			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr17:16285497A>G	ENST00000395837.1	+	2	457	c.276A>G	c.(274-276)gaA>gaG	p.E92E	UBB_ENST00000395839.1_Silent_p.E92E|UBB_ENST00000302182.3_Silent_p.E92E|UBB_ENST00000578649.1_Intron|UBB_ENST00000535788.1_Intron|RP11-138I1.4_ENST00000583934.1_RNA	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	92	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.		GMQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQ QRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGMQIFV KTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFA GKQLEDGRTLSDYNIQKESTLHLVLRLRGGC -> YADLRE DPDRQDHHPGSGAQ (in UBB(+1); loss of polyubiquitination; impairs the ubiquitin-proteasome pathway; refractory to disassembly by DUBs; slow degradation by UCHL3).		activation of MAPK activity (GO:0000187)|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)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)		p.E92E(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		TCACCCTGGAAGTGGAGCCCA	0.557																																					Melanoma(163;1126 3406 34901)	ENST00000302182.3																			2	Substitution - coding silent(2)	p.E92E(2)	endometrium(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(274-276)gaA>gaG		ubiquitin B																																				SO:0001819	synonymous_variant	7314				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr17:16285497A>G		CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"""polyubiquitin B"""	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.276A>G	17.37:g.16285497A>G						UBB_ENST00000395837.1_Silent_p.E92E|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000535788.1_Intron|UBB_ENST00000395839.1_Silent_p.E92E|UBB_ENST00000578649.1_Intron	p.E92E	NM_018955.2	NP_061828.1	P0CG47	UBB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)	2	668	+			92			Ubiquitin-like 2.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000395837.1	37	c.276A>G	CCDS11177.1																																																																																				0.557	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130459.1	NM_018955		9	417	0	0	0	9.31168e-06	0	9	417				
MS4A5	64232	broad.mit.edu	37	11	60197150	60197150	+	Start_Codon_SNP	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr11:60197150G>T	ENST00000300190.2	+	1	89	c.3G>T	c.(1-3)atG>atT	p.M1I	MS4A5_ENST00000534071.1_3'UTR	NM_023945.2	NP_076434.2	Q9H3V2	MS4A5_HUMAN	membrane-spanning 4-domains, subfamily A, member 5	1						integral component of membrane (GO:0016021)				large_intestine(7)|lung(7)|ovary(1)|skin(1)	16						ACACCATCATGGATTCAAGCA	0.448																																						ENST00000300190.2																			0				large_intestine(7)|lung(7)|ovary(1)|skin(1)	16						c.(1-3)atG>atT		membrane-spanning 4-domains, subfamily A, member 5							111.0	110.0	111.0					11																	60197150		2203	4300	6503	SO:0001582	initiator_codon_variant	64232					integral to membrane	receptor activity	g.chr11:60197150G>T	AB013103	CCDS7987.1	11q12	2008-03-25			ENSG00000166930	ENSG00000166930			13374	protein-coding gene	gene with protein product		606499				11245982, 11401424	Standard	NM_023945		Approved	CD20L2	uc001npo.3	Q9H3V2	OTTHUMG00000167613	ENST00000300190.2:c.3G>T	11.37:g.60197150G>T	ENSP00000300190:p.Met1Ile					MS4A5_ENST00000534071.1_3'UTR	p.M1I	NM_023945.2	NP_076434.2	Q9H3V2	MS4A5_HUMAN			1	89	+			1					Q9BZH1	Translation_Start_Site	SNP	ENST00000300190.2	37	c.3G>T	CCDS7987.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.150767	0.57151	.	.	ENSG00000166930	ENST00000300190	T	0.10573	2.86	4.66	4.66	0.58398	.	0.922269	0.09352	N	0.814023	T	0.33731	0.0873	.	.	.	0.80722	D	1	D	0.63880	0.993	D	0.72982	0.979	T	0.00726	-1.1592	9	0.72032	D	0.01	-20.1452	13.2445	0.60016	0.0:0.0:1.0:0.0	.	1	Q9H3V2	MS4A5_HUMAN	I	1	ENSP00000300190:M1I	ENSP00000300190:M1I	M	+	3	0	MS4A5	59953726	0.997000	0.39634	0.954000	0.39281	0.540000	0.34992	3.950000	0.56676	2.578000	0.87016	0.467000	0.42956	ATG		0.448	MS4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395392.1		Missense_Mutation	8	726	1	0	3.86212e-05	3.86212e-05	0.00414285	8	726				
FPR3	2359	broad.mit.edu	37	19	52327944	52327944	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr19:52327944C>A	ENST00000339223.4	+	2	1122	c.943C>A	c.(943-945)Cgc>Agc	p.R315S	FPR3_ENST00000595991.1_Missense_Mutation_p.R315S	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	315					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)	p.R315C(1)		NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						AAGACTGATTCGCTCTTTGCC	0.507																																						ENST00000339223.4																			1	Substitution - Missense(1)	p.R315C(1)	large_intestine(1)	NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						c.(943-945)Cgc>Agc		formyl peptide receptor 3							108.0	102.0	104.0					19																	52327944		2203	4300	6503	SO:0001583	missense	2359				cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52327944C>A		CCDS12841.1	19q13.3-q13.4	2012-08-08	2008-04-17	2008-04-17		ENSG00000187474		"""GPCR / Class A : Formyl peptide receptors"""	3828	protein-coding gene	gene with protein product		136539	"""formyl peptide receptor-like 2"""	FPRL2		1612600, 8198572	Standard	NM_002030		Approved	FPRH1, FMLPY, RMLP-R-I	uc002pxt.1	P25089		ENST00000339223.4:c.943C>A	19.37:g.52327944C>A	ENSP00000341821:p.Arg315Ser					FPR3_ENST00000595991.1_Missense_Mutation_p.R315S	p.R315S	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN			2	1122	+			315						Missense_Mutation	SNP	ENST00000339223.4	37	c.943C>A	CCDS12841.1	.	.	.	.	.	.	.	.	.	.	.	9.235	1.036746	0.19669	.	.	ENSG00000187474	ENST00000339223	T	0.39056	1.1	2.34	-0.267	0.12938	.	0.422186	0.21077	N	0.080555	T	0.26304	0.0642	L	0.39898	1.24	0.22213	N	0.999285	P	0.39748	0.686	B	0.39935	0.314	T	0.08027	-1.0742	10	0.26408	T	0.33	.	2.8854	0.05660	0.4068:0.4264:0.0:0.1667	.	315	P25089	FPR3_HUMAN	S	315	ENSP00000341821:R315S	ENSP00000341821:R315S	R	+	1	0	FPR3	57019756	0.000000	0.05858	0.135000	0.22099	0.304000	0.27724	0.024000	0.13555	0.322000	0.23283	0.305000	0.20034	CGC		0.507	FPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466914.1	NM_002030		9	588	1	0	1.12685e-05	1.12685e-05	0.00155022	9	588				
CATSPER4	378807	broad.mit.edu	37	1	26524785	26524785	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr1:26524785C>A	ENST00000456354.2	+	6	754	c.687C>A	c.(685-687)tcC>tcA	p.S229S		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	229					calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sodium ion transport (GO:0006814)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)	p.S229S(1)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		AGGTTTTTTCCGTGTTTGGAG	0.493																																						ENST00000456354.2																			1	Substitution - coding silent(1)	p.S229S(1)	lung(1)	NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27						c.(685-687)tcC>tcA		cation channel, sperm associated 4							290.0	303.0	298.0					1																	26524785		2203	4300	6503	SO:0001819	synonymous_variant	378807				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity	g.chr1:26524785C>A	BN000273	CCDS30645.1	1p35.3	2011-07-05			ENSG00000188782	ENSG00000188782		"""Voltage-gated ion channels / Cation channels, sperm associated"""	23220	protein-coding gene	gene with protein product		609121				12932298, 17227845, 16382101	Standard	NM_198137		Approved		uc010oez.2	Q7RTX7	OTTHUMG00000003383	ENST00000456354.2:c.687C>A	1.37:g.26524785C>A							p.S229S	NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)	6	754	+		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)	229					A1A4W6|Q5VY71	Silent	SNP	ENST00000456354.2	37	c.687C>A	CCDS30645.1																																																																																				0.493	CATSPER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019849.2	NM_198137		12	1506	1	0	6.40141e-05	6.40141e-05	0.00606515	12	1506				
MVB12B	89853	broad.mit.edu	37	9	129154466	129154466	+	Silent	SNP	G	G	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr9:129154466G>A	ENST00000361171.3	+	5	612	c.531G>A	c.(529-531)acG>acA	p.T177T	MVB12B_ENST00000535766.1_Silent_p.T170T|MVB12B_ENST00000436593.3_Silent_p.T162T|MVB12B_ENST00000545391.1_Silent_p.T177T	NM_033446.2	NP_258257.1	Q9H7P6	MB12B_HUMAN	multivesicular body subunit 12B	177	MABP. {ECO:0000255|PROSITE- ProRule:PRU00831}.				protein transport (GO:0015031)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytosol (GO:0005829)|early endosome (GO:0005769)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	lipid binding (GO:0008289)										CTCAGTACACGTTTATTGGGT	0.512																																						ENST00000361171.3																			0											c.(529-531)acG>acA		multivesicular body subunit 12B							86.0	90.0	89.0					9																	129154466		2203	4300	6503	SO:0001819	synonymous_variant	89853							g.chr9:129154466G>A	AK000001	CCDS35142.1	9q34.12	2012-12-03	2012-12-03	2012-12-03	ENSG00000196814	ENSG00000196814			23368	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 28"", ""family with sequence similarity 125, member B"""	C9orf28, FAM125B		18005716, 20654576, 22232651	Standard	NM_033446		Approved	FLJ00001	uc004bqh.2	Q9H7P6	OTTHUMG00000020687	ENST00000361171.3:c.531G>A	9.37:g.129154466G>A						MVB12B_ENST00000535766.1_Silent_p.T170T|MVB12B_ENST00000545391.1_Silent_p.T177T|MVB12B_ENST00000436593.3_Silent_p.T162T	p.T177T	NM_033446.2	NP_258257.1					5	612	+								Q8N6S7	Silent	SNP	ENST00000361171.3	37	c.531G>A	CCDS35142.1																																																																																				0.512	MVB12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054110.1	XM_088525		10	503	0	0	0	0.00010058	0	10	503				
UGT1A1	54658	broad.mit.edu	37	2	234526363	234526363	+	Missense_Mutation	SNP	A	A	G			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr2:234526363A>G	ENST00000373450.4	+	1	73	c.10A>G	c.(10-12)Aca>Gca	p.T4A		NM_019076.4	NP_061949.3	P22309	UD11_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A1	0					acute-phase response (GO:0006953)|bilirubin conjugation (GO:0006789)|biphenyl catabolic process (GO:0070980)|cellular glucuronidation (GO:0052695)|cellular response to ethanol (GO:0071361)|cellular response to glucocorticoid stimulus (GO:0071385)|digestion (GO:0007586)|drug metabolic process (GO:0017144)|estrogen metabolic process (GO:0008210)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|heme catabolic process (GO:0042167)|heterocycle metabolic process (GO:0046483)|liver development (GO:0001889)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of steroid metabolic process (GO:0045939)|organ regeneration (GO:0031100)|porphyrin-containing compound metabolic process (GO:0006778)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	cytochrome complex (GO:0070069)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|steroid binding (GO:0005496)	p.T4A(3)		breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Acetaminophen(DB00316)|Adenine(DB00173)|Atorvastatin(DB01076)|Axitinib(DB06626)|Diclofenac(DB00586)|Dolutegravir(DB08930)|Eltrombopag(DB06210)|Erlotinib(DB00530)|Estradiol(DB00783)|Etoposide(DB00773)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indacaterol(DB05039)|Indomethacin(DB00328)|Irinotecan(DB00762)|Losartan(DB00678)|Lovastatin(DB00227)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naltrexone(DB00704)|Naproxen(DB00788)|Nilotinib(DB04868)|Pazopanib(DB06589)|Propofol(DB00818)|Raltegravir(DB06817)|Regorafenib(DB08896)|Rifampicin(DB01045)|Simvastatin(DB00641)|Sorafenib(DB00398)|Suprofen(DB00870)|Testosterone Propionate(DB01420)	CATGGCTCGCACAGGGTGGAC	0.562																																						ENST00000373450.4																			3	Substitution - Missense(3)	p.T4A(3)	prostate(1)|lung(1)|kidney(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)	30						c.(10-12)Aca>Gca									61.0	53.0	56.0					2																	234526363		2203	4300	6503	SO:0001583	missense	0							g.chr2:234526363A>G	M57899	CCDS2510.1	2q37.1	2014-09-17	2005-07-20		ENSG00000242366	ENSG00000242366	2.4.1.17	"""UDP glucuronosyltransferases"""	12530	other	complex locus constituent		191740	"""UDP glycosyltransferase 1 family, polypeptide A1"""	UGT1, GNT1		9295054, 9535849	Standard	NM_000463		Approved	UGT1A		P22309	OTTHUMG00000059117	ENST00000373450.4:c.10A>G	2.37:g.234526363A>G	ENSP00000362549:p.Thr4Ala						p.T4A	NM_019076.4	NP_061949.3				Epithelial(121;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008)	1	73	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)						A6NJC3|B8K286	Missense_Mutation	SNP	ENST00000373450.4	37	c.10A>G	CCDS33402.1	.	.	.	.	.	.	.	.	.	.	A	1.349	-0.591910	0.03799	.	.	ENSG00000242366	ENST00000373450	T	0.57273	0.41	3.96	-1.46	0.08800	.	.	.	.	.	T	0.20577	0.0495	N	0.03115	-0.41	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.27331	-1.0077	9	0.06891	T	0.86	.	5.6018	0.17357	0.3817:0.1909:0.4274:0.0	.	4;4	Q5DSZ6;Q9HAW9	.;UD18_HUMAN	A	4	ENSP00000362549:T4A	ENSP00000362549:T4A	T	+	1	0	UGT1A8	234191102	0.000000	0.05858	0.003000	0.11579	0.000000	0.00434	0.041000	0.13927	-0.096000	0.12329	-1.318000	0.01297	ACA		0.562	UGT1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130994.1			5	378	0	0	0	2.17888e-05	0	5	378				
SPCS1	28972	broad.mit.edu	37	3	52741760	52741760	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr3:52741760C>A	ENST00000602728.1	+	4	410	c.241C>A	c.(241-243)Caa>Aaa	p.Q81K	GLT8D1_ENST00000266014.5_5'Flank|GLT8D1_ENST00000407584.3_5'Flank|GLT8D1_ENST00000491606.1_5'Flank|SPCS1_ENST00000423431.1_Missense_Mutation_p.Q59K|GLT8D1_ENST00000478968.2_5'Flank|SPCS1_ENST00000233025.7_Missense_Mutation_p.Q148K			Q9Y6A9	SPCS1_HUMAN	signal peptidase complex subunit 1 homolog (S. cerevisiae)	81					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)|signal peptide processing (GO:0006465)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|signal peptidase complex (GO:0005787)	peptidase activity (GO:0008233)			kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	6				BRCA - Breast invasive adenocarcinoma(193;6.51e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)|OV - Ovarian serous cystadenocarcinoma(275;0.0469)		GTTACCTGTTCAAGAATCAAG	0.413																																						ENST00000233025.7																			0				kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	6						c.(442-444)Caa>Aaa		signal peptidase complex subunit 1 homolog (S. cerevisiae)							123.0	126.0	125.0					3																	52741760		2203	4300	6503	SO:0001583	missense	28972				energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	integral to endoplasmic reticulum membrane|microsome|signal peptidase complex	peptidase activity	g.chr3:52741760C>A	AF092138	CCDS33769.2	3p21.31	2005-01-05			ENSG00000114902	ENSG00000114902			23401	protein-coding gene	gene with protein product		610358				8632014	Standard	NM_014041		Approved	SPC12, HSPC033, YJR010C-A, SPC1	uc011bei.2	Q9Y6A9	OTTHUMG00000154930	ENST00000602728.1:c.241C>A	3.37:g.52741760C>A	ENSP00000473265:p.Gln81Lys					SPCS1_ENST00000602728.1_Missense_Mutation_p.Q81K|SPCS1_ENST00000423431.1_Missense_Mutation_p.Q59K	p.Q148K	NM_014041.3	NP_054760.3	Q9Y6A9	SPCS1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.51e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)|OV - Ovarian serous cystadenocarcinoma(275;0.0469)	4	852	+			148					B3KNF8|Q9BVW1	Missense_Mutation	SNP	ENST00000602728.1	37	c.442C>A		.	.	.	.	.	.	.	.	.	.	C	21.5	4.152679	0.78001	.	.	ENSG00000114902	ENST00000423431;ENST00000233025	.	.	.	5.57	5.57	0.84162	.	0.311639	0.35555	N	0.003130	T	0.43590	0.1254	N	0.24115	0.695	0.51012	D	0.9999	P	0.43542	0.81	B	0.40741	0.339	T	0.27839	-1.0062	9	0.29301	T	0.29	-17.6896	19.5486	0.95309	0.0:1.0:0.0:0.0	.	148	Q9Y6A9	SPCS1_HUMAN	K	59;148	.	ENSP00000233025:Q148K	Q	+	1	0	SPCS1	52716800	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.510000	0.73729	2.609000	0.88269	0.591000	0.81541	CAA		0.413	SPCS1-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467759.1	NM_014041		10	776	1	0	0.00010058	0.00010058	0.00856336	10	776				
CEP120	153241	broad.mit.edu	37	5	122722255	122722255	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr5:122722255C>A	ENST00000306467.5	-	10	1841	c.1537G>T	c.(1537-1539)Gat>Tat	p.D513Y	CEP120_ENST00000306481.6_Missense_Mutation_p.D487Y|CEP120_ENST00000328236.5_Missense_Mutation_p.D513Y			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	513					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)|regulation of protein localization (GO:0032880)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						GTTGCAAAATCAAATGCACAG	0.348																																						ENST00000306467.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(1537-1539)Gat>Tat		centrosomal protein 120kDa							62.0	60.0	61.0					5																	122722255		2203	4300	6503	SO:0001583	missense	153241					centrosome		g.chr5:122722255C>A	AK095646	CCDS4134.2, CCDS54890.1	5q23.2	2014-02-20	2008-08-14	2008-08-14	ENSG00000168944	ENSG00000168944			26690	protein-coding gene	gene with protein product		613446	"""coiled-coil domain containing 100"""	CCDC100		17920017	Standard	NM_153223		Approved	FLJ36090	uc003ktk.3	Q8N960	OTTHUMG00000128922	ENST00000306467.5:c.1537G>T	5.37:g.122722255C>A	ENSP00000303058:p.Asp513Tyr					CEP120_ENST00000328236.5_Missense_Mutation_p.D513Y|CEP120_ENST00000306481.6_Missense_Mutation_p.D487Y	p.D513Y			Q8N960	CE120_HUMAN			10	1841	-			513					Q6AI52|Q6AW89|Q8IWB5|Q8N9Y0|Q8NDE8	Missense_Mutation	SNP	ENST00000306467.5	37	c.1537G>T	CCDS4134.2	.	.	.	.	.	.	.	.	.	.	C	24.4	4.530289	0.85706	.	.	ENSG00000168944	ENST00000306467;ENST00000328236;ENST00000306481;ENST00000508442	T;T;T;T	0.51574	2.03;2.03;2.03;0.7	5.97	5.97	0.96955	.	0.102761	0.64402	D	0.000005	T	0.65595	0.2706	M	0.68952	2.095	0.80722	D	1	D	0.76494	0.999	P	0.59221	0.854	T	0.63545	-0.6613	10	0.49607	T	0.09	-25.1905	20.0428	0.97598	0.0:1.0:0.0:0.0	.	513	Q8N960	CE120_HUMAN	Y	513;513;487;487	ENSP00000303058:D513Y;ENSP00000327504:D513Y;ENSP00000307419:D487Y;ENSP00000421620:D487Y	ENSP00000303058:D513Y	D	-	1	0	CEP120	122750154	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.756000	0.62205	2.833000	0.97629	0.585000	0.79938	GAT		0.348	CEP120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250899.2	NM_153223		11	660	1	0	5.50884e-06	0.00010058	0.000838376	11	660				
NOS3	4846	broad.mit.edu	37	7	150704202	150704202	+	Missense_Mutation	SNP	C	C	A	rs148623908		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr7:150704202C>A	ENST00000297494.3	+	17	2307	c.1950C>A	c.(1948-1950)ttC>ttA	p.F650L	NOS3_ENST00000461406.1_Missense_Mutation_p.F444L	NM_000603.4	NP_000594.2	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCTGTGTGTTCGGGCTCGGCT	0.677																																						ENST00000297494.3																			0				NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(1948-1950)ttC>ttA		nitric oxide synthase 3 (endothelial cell)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)						103.0	102.0	102.0					7																	150704202		2203	4300	6503	SO:0001583	missense	4846				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr7:150704202C>A		CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"""endothelial nitric oxide synthase"""	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000297494.3:c.1950C>A	7.37:g.150704202C>A	ENSP00000297494:p.Phe650Leu					NOS3_ENST00000461406.1_Missense_Mutation_p.F444L	p.F650L	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	17	2307	+	all_neural(206;0.219)		650			Flavodoxin-like.		Q495E5	Missense_Mutation	SNP	ENST00000297494.3	37	c.1950C>A	CCDS5912.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.163531	0.57476	.	.	ENSG00000164867	ENST00000297494;ENST00000461406	T;T	0.60299	0.2;0.2	4.92	-0.875	0.10628	Flavodoxin/nitric oxide synthase (2);	0.000000	0.64402	D	0.000005	T	0.60196	0.2250	L	0.42529	1.33	0.80722	D	1	D;P	0.53462	0.96;0.837	P;P	0.62813	0.907;0.727	T	0.58769	-0.7578	10	0.66056	D	0.02	-15.7684	8.4022	0.32592	0.0:0.3284:0.0:0.6716	.	444;650	E7ESA7;P29474	.;NOS3_HUMAN	L	650;444	ENSP00000297494:F650L;ENSP00000417143:F444L	ENSP00000297494:F650L	F	+	3	2	NOS3	150335135	0.725000	0.28048	0.998000	0.56505	0.982000	0.71751	-0.144000	0.10280	-0.022000	0.13986	0.499000	0.49734	TTC		0.677	NOS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350750.2	NM_000603		10	962	1	0	1.06961e-07	5.18039e-06	2.22608e-05	10	962				
LINC00969	440993	broad.mit.edu	37	3	195400848	195400848	+	lincRNA	SNP	G	G	A	rs7635190	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr3:195400848G>A	ENST00000445430.1	+	0	1444									long intergenic non-protein coding RNA 969																		TCGCAGAGTCGTGCAGGCCTG	0.552																																						ENST00000445430.1																			0																																																			0							g.chr3:195400848G>A	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400848G>A														0	1444	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.552	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			8	166	0	0	0	2.90539e-05	0	8	166				
NGF	4803	broad.mit.edu	37	1	115829233	115829233	+	Missense_Mutation	SNP	G	G	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr1:115829233G>A	ENST00000369512.2	-	3	352	c.184C>T	c.(184-186)Cgc>Tgc	p.R62C	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	62					activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|adult locomotory behavior (GO:0008344)|apoptotic signaling pathway (GO:0097190)|circadian rhythm (GO:0007623)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|memory (GO:0007613)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|nerve growth factor processing (GO:0032455)|neuron apoptotic process (GO:0051402)|neuron projection morphogenesis (GO:0048812)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axon extension (GO:0045773)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neurotrophin TRK receptor signaling pathway (GO:0051388)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|Ras protein signal transduction (GO:0007265)|regulation of axonogenesis (GO:0050770)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of neurotransmitter secretion (GO:0046928)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to peptide hormone (GO:0043434)|response to radiation (GO:0009314)|sensory perception of pain (GO:0019233)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)	nerve growth factor receptor binding (GO:0005163)|receptor signaling protein activity (GO:0005057)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	CCCGCCACGCGTGCAGCTATC	0.632																																						ENST00000369512.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						c.(184-186)Cgc>Tgc		nerve growth factor (beta polypeptide)	Clenbuterol(DB01407)						48.0	48.0	48.0					1																	115829233		2203	4300	6503	SO:0001583	missense	4803				activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding	g.chr1:115829233G>A		CCDS882.1	1p13.1	2014-09-17	2008-02-07	2008-02-07	ENSG00000134259	ENSG00000134259		"""Endogenous ligands"""	7808	protein-coding gene	gene with protein product		162030		NGFB			Standard	XM_006710663		Approved		uc001efu.1	P01138	OTTHUMG00000011880	ENST00000369512.2:c.184C>T	1.37:g.115829233G>A	ENSP00000358525:p.Arg62Cys					RP4-663N10.1_ENST00000425449.1_RNA	p.R62C	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	3	352	-	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)	62					A1A4E5|Q6FHA0|Q96P60|Q9P2Q8|Q9UKL8	Missense_Mutation	SNP	ENST00000369512.2	37	c.184C>T	CCDS882.1	.	.	.	.	.	.	.	.	.	.	G	12.46	1.943321	0.34283	.	.	ENSG00000134259	ENST00000369512	T	0.63417	-0.04	5.06	-0.0542	0.13815	.	0.100578	0.42548	D	0.000686	T	0.58206	0.2106	M	0.77486	2.375	0.09310	N	0.999997	D	0.76494	0.999	P	0.51806	0.68	T	0.63184	-0.6694	10	0.87932	D	0	-22.5746	14.8749	0.70488	0.0:0.0:0.6922:0.3078	.	62	P01138	NGF_HUMAN	C	62	ENSP00000358525:R62C	ENSP00000358525:R62C	R	-	1	0	NGF	115630756	0.066000	0.20996	0.543000	0.28128	0.207000	0.24258	1.510000	0.35790	0.104000	0.17725	0.467000	0.42956	CGC		0.632	NGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032832.1	NM_002506		6	220	0	0	0	3.59834e-05	0	6	220				
SLIT2	9353	broad.mit.edu	37	4	20541152	20541152	+	Missense_Mutation	SNP	C	C	A	rs553808717		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr4:20541152C>A	ENST00000504154.1	+	19	2173	c.1921C>A	c.(1921-1923)Caa>Aaa	p.Q641K	SLIT2_ENST00000503823.1_Missense_Mutation_p.Q633K|SLIT2_ENST00000273739.5_Missense_Mutation_p.Q645K|SLIT2_ENST00000503837.1_Missense_Mutation_p.Q637K	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	641					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)	p.Q641K(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GTATGATAATCAAATTACTAC	0.378													C|||	1	0.000199681	0.0008	0.0	5008	,	,		14976	0.0		0.0	False		,,,				2504	0.0					ENST00000504154.1																			1	Substitution - Missense(1)	p.Q641K(1)	kidney(1)	NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						c.(1921-1923)Caa>Aaa		slit homolog 2 (Drosophila)							136.0	129.0	131.0					4																	20541152		2203	4300	6503	SO:0001583	missense	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20541152C>A	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.1921C>A	4.37:g.20541152C>A	ENSP00000422591:p.Gln641Lys					SLIT2_ENST00000503837.1_Missense_Mutation_p.Q637K|SLIT2_ENST00000503823.1_Missense_Mutation_p.Q633K|SLIT2_ENST00000273739.5_Missense_Mutation_p.Q645K	p.Q641K	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN			19	2173	+			641					B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	c.1921C>A	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	C	17.38	3.376165	0.61735	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	T;T;T;T	0.54866	0.55;0.55;0.55;0.55	5.88	5.88	0.94601	.	0.050442	0.85682	D	0.000000	T	0.42404	0.1201	L	0.38692	1.165	0.58432	D	0.999999	B;P	0.39920	0.008;0.695	B;B	0.32724	0.016;0.151	T	0.26916	-1.0089	10	0.16420	T	0.52	.	20.2187	0.98312	0.0:1.0:0.0:0.0	.	633;641	O94813-3;O94813	.;SLIT2_HUMAN	K	633;641;645;637;637	ENSP00000427548:Q633K;ENSP00000422591:Q641K;ENSP00000273739:Q645K;ENSP00000422261:Q637K	ENSP00000273739:Q645K	Q	+	1	0	SLIT2	20150250	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.036000	0.70948	2.780000	0.95670	0.655000	0.94253	CAA		0.378	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			12	782	1	0	0.00010058	0.00010058	0.00856336	12	782				
TPTE2P2	644623	broad.mit.edu	37	13	52864001	52864001	+	RNA	SNP	A	A	G	rs199631015		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr13:52864001A>G	ENST00000451298.1	-	0	168																											GAAAAAATAAAGCAATAGCTA	0.313																																						ENST00000451298.1																			0																																																			0							g.chr13:52864001A>G																													13.37:g.52864001A>G						RP11-64P12.8_ENST00000606031.1_RNA								0	168	-									RNA	SNP	ENST00000451298.1	37																																																																																						0.313	RP11-248G5.8-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000471093.1			5	222	0	0	0	6.40141e-05	0	5	222				
OR6C75	390323	broad.mit.edu	37	12	55759411	55759411	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr12:55759411G>T	ENST00000343399.3	+	1	517	c.517G>T	c.(517-519)Gat>Tat	p.D173Y		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	173						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						CAATGTAATTGATCATTTTAT	0.423																																						ENST00000343399.3																			0				endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						c.(517-519)Gat>Tat		olfactory receptor, family 6, subfamily C, member 75							168.0	144.0	152.0					12																	55759411		2203	4300	6503	SO:0001583	missense	390323				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55759411G>T		CCDS31820.1	12q13.2	2013-09-23			ENSG00000187857	ENSG00000187857		"""GPCR / Class A : Olfactory receptors"""	31304	protein-coding gene	gene with protein product							Standard	NM_001005497		Approved		uc010spk.2	A6NL08	OTTHUMG00000169886	ENST00000343399.3:c.517G>T	12.37:g.55759411G>T	ENSP00000368987:p.Asp173Tyr						p.D173Y	NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN			1	517	+			173						Missense_Mutation	SNP	ENST00000343399.3	37	c.517G>T	CCDS31820.1	.	.	.	.	.	.	.	.	.	.	g	16.20	3.056039	0.55325	.	.	ENSG00000187857	ENST00000343399	T	0.00193	8.58	5.22	4.31	0.51392	GPCR, rhodopsin-like superfamily (1);	0.129958	0.33854	N	0.004486	T	0.00552	0.0018	M	0.85462	2.755	0.32741	N	0.507645	D	0.89917	1.0	D	0.79108	0.992	T	0.43702	-0.9375	10	0.87932	D	0	.	10.4759	0.44665	0.1511:0.0:0.8489:0.0	.	173	A6NL08	O6C75_HUMAN	Y	173	ENSP00000368987:D173Y	ENSP00000368987:D173Y	D	+	1	0	OR6C75	54045678	0.000000	0.05858	1.000000	0.80357	0.971000	0.66376	-0.165000	0.09968	2.725000	0.93324	0.632000	0.83419	GAT		0.423	OR6C75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406418.1			10	545	1	0	5.50884e-06	0.00010058	0.000838376	10	545				
GON4L	54856	broad.mit.edu	37	1	155743000	155743000	+	Splice_Site	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr1:155743000C>A	ENST00000368331.1	-	18	2400	c.2352G>T	c.(2350-2352)gcG>gcT	p.A784A	GON4L_ENST00000271883.5_Splice_Site_p.A784A|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000437809.1_Splice_Site_p.A784A|GON4L_ENST00000361040.5_Splice_Site_p.A784A	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	784					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GAAATTCATTCGCTATAAGAA	0.408																																						ENST00000437809.1																			0				NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45						c.e18-1		gon-4-like (C. elegans)							74.0	72.0	73.0					1																	155743000		2203	4300	6503	SO:0001630	splice_region_variant	54856				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:155743000C>A	AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.2351-1G>T	1.37:g.155743000C>A						GON4L_ENST00000361040.5_Splice_Site_p.A784_splice|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000368331.1_Splice_Site_p.A784_splice|GON4L_ENST00000271883.5_Splice_Site_p.A784_splice	p.A784_splice			Q3T8J9	GON4L_HUMAN			18	2474	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)		784					B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Splice_Site	SNP	ENST00000368331.1	37	c.2350_splice																																																																																					0.408	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292	Silent	9	483	1	0	3.86212e-05	3.86212e-05	0.00414285	9	483				
PSD3	23362	broad.mit.edu	37	8	18393349	18393349	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr8:18393349C>A	ENST00000327040.8	-	16	3150	c.3048G>T	c.(3046-3048)ccG>ccT	p.P1016P	PSD3_ENST00000286485.8_Silent_p.P482P|PSD3_ENST00000523619.1_Silent_p.P951P|PSD3_ENST00000428502.2_Silent_p.P345P|PSD3_ENST00000440756.2_Silent_p.P1018P	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	1017					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		GAGAAGTATCCGGGTTCAGCG	0.483																																						ENST00000440756.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(3052-3054)ccG>ccT		pleckstrin and Sec7 domain containing 3							199.0	162.0	174.0					8																	18393349		2203	4300	6503	SO:0001819	synonymous_variant	23362				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	g.chr8:18393349C>A	AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"""Pleckstrin homology (PH) domain containing"""	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.3048G>T	8.37:g.18393349C>A						PSD3_ENST00000523619.1_Silent_p.P951P|PSD3_ENST00000327040.8_Silent_p.P1016P|PSD3_ENST00000428502.2_Silent_p.P345P|PSD3_ENST00000286485.8_Silent_p.P482P	p.P1018P			Q9NYI0	PSD3_HUMAN		Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)	16	3156	-			1017					A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Silent	SNP	ENST00000327040.8	37	c.3054G>T	CCDS43720.1																																																																																				0.483	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1	NM_015310		6	563	1	0	1.06961e-07	5.18039e-06	2.22608e-05	6	563				
ZNF443	10224	broad.mit.edu	37	19	12542230	12542230	+	Silent	SNP	C	C	T	rs533901012	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr19:12542230C>T	ENST00000301547.5	-	4	953	c.756G>A	c.(754-756)ccG>ccA	p.P252P	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	252					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						TACATTCATACGGTTTCTCCC	0.363													.|||	2	0.000399361	0.0008	0.0014	5008	,	,		23531	0.0		0.0	False		,,,				2504	0.0					ENST00000301547.5																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						c.(754-756)ccG>ccA		zinc finger protein 443							186.0	187.0	187.0					19																	12542230		2203	4300	6503	SO:0001819	synonymous_variant	10224				induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12542230C>T	AB011414	CCDS32918.1	19p13.13	2013-01-08			ENSG00000180855	ENSG00000180855		"""Zinc fingers, C2H2-type"", ""-"""	20878	protein-coding gene	gene with protein product		606697				9731181	Standard	NM_005815		Approved	ZK1	uc002mtu.3	Q9Y2A4	OTTHUMG00000156404	ENST00000301547.5:c.756G>A	19.37:g.12542230C>T						CTD-3105H18.16_ENST00000595562.1_Intron	p.P252P	NM_005815.4	NP_005806.2	Q9Y2A4	ZN443_HUMAN			4	953	-			252						Silent	SNP	ENST00000301547.5	37	c.756G>A	CCDS32918.1																																																																																				0.363	ZNF443-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344084.1	NM_005815		9	1649	0	0	0	5.18039e-06	0	9	1649				
TTN	7273	broad.mit.edu	37	2	179445134	179445134	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr2:179445134C>A	ENST00000591111.1	-	267	62273	c.62049G>T	c.(62047-62049)gtG>gtT	p.V20683V	RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.V13451V|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.V13384V|TTN_ENST00000460472.2_Silent_p.V13259V|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Silent_p.V22324V|TTN_ENST00000342992.6_Silent_p.V19756V|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	20683					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATATTTGTTCACATTTTCAC	0.363																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(66970-66972)gtG>gtT		titin							165.0	150.0	155.0					2																	179445134		1869	4096	5965	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179445134C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.62049G>T	2.37:g.179445134C>A						TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN_ENST00000342175.6_Silent_p.V13451V|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Silent_p.V19756V|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Silent_p.V13259V|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Silent_p.V13384V|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Silent_p.V20683V|TTN-AS1_ENST00000592600.1_RNA	p.V22324V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		317	67196	-			20683			Fibronectin type-III 62.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.66972G>T																																																																																					0.363	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		18	781	1	0	9.7654e-05	9.7654e-05	0.00856336	18	781				
EEF1B2	1933	broad.mit.edu	37	2	207025366	207025366	+	Silent	SNP	G	G	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr2:207025366G>A	ENST00000392222.2	+	2	510	c.135G>A	c.(133-135)ccG>ccA	p.P45P	NDUFS1_ENST00000455934.2_5'Flank|NDUFS1_ENST00000423725.1_5'Flank|NDUFS1_ENST00000457011.1_5'Flank|SNORA41_ENST00000384675.1_RNA|SNORD51_ENST00000384320.2_RNA|EEF1B2_ENST00000392221.1_Silent_p.P45P|NDUFS1_ENST00000233190.6_5'Flank|EEF1B2_ENST00000236957.5_Silent_p.P45P|NDUFS1_ENST00000440274.1_5'Flank|NDUFS1_ENST00000449699.1_5'Flank|NDUFS1_ENST00000432169.1_5'Flank	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	45	GST C-terminal.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)	translation elongation factor activity (GO:0003746)	p.P45P(5)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						CCAGCCCACCGCCTGCCGACT	0.448																																						ENST00000392222.2																			5	Substitution - coding silent(5)	p.P45P(5)	kidney(2)|endometrium(2)|lung(1)	breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						c.(133-135)ccG>ccA		eukaryotic translation elongation factor 1 beta 2							109.0	99.0	102.0					2																	207025366		2203	4300	6503	SO:0001819	synonymous_variant	1933					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	g.chr2:207025366G>A	X60489	CCDS2367.1	2q33.3	2011-04-28			ENSG00000114942	ENSG00000114942			3208	protein-coding gene	gene with protein product		600655				8250921	Standard	NM_001959		Approved		uc002vbf.1	P24534	OTTHUMG00000132891	ENST00000392222.2:c.135G>A	2.37:g.207025366G>A						EEF1B2_ENST00000392221.1_Silent_p.P45P|EEF1B2_ENST00000236957.5_Silent_p.P45P	p.P45P	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN			2	510	+			45			GST C-terminal.		A8K795|Q6IBH9	Silent	SNP	ENST00000392222.2	37	c.135G>A	CCDS2367.1																																																																																				0.448	EEF1B2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336436.1	NM_001037663		9	561	0	0	0	3.86212e-05	0	9	561				
HHIPL2	79802	broad.mit.edu	37	1	222716940	222716940	+	Silent	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr1:222716940G>T	ENST00000343410.6	-	2	971	c.913C>A	c.(913-915)Cga>Aga	p.R305R		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	305					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		TCACTAATTCGGATCTTTTCT	0.453																																						ENST00000343410.6																			0				NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(913-915)Cga>Aga		HHIP-like 2							235.0	262.0	253.0					1																	222716940		2203	4300	6503	SO:0001819	synonymous_variant	79802				carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	g.chr1:222716940G>T	BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"""KIAA1822-like"""	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.913C>A	1.37:g.222716940G>T							p.R305R	NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN		GBM - Glioblastoma multiforme(131;0.0185)	2	971	-			305					Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Silent	SNP	ENST00000343410.6	37	c.913C>A	CCDS1530.2																																																																																				0.453	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2	NM_024746		12	1456	1	0	2.0095e-06	8.12818e-05	0.000359789	12	1456				
ZNF195	7748	broad.mit.edu	37	11	3380678	3380678	+	Silent	SNP	C	C	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr11:3380678C>T	ENST00000399602.4	-	6	1686	c.1560G>A	c.(1558-1560)aaG>aaA	p.K520K	ZNF195_ENST00000526601.1_Silent_p.K501K|ZNF195_ENST00000343338.7_Silent_p.K452K|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000005082.9_Silent_p.K497K|ZNF195_ENST00000429541.2_Silent_p.K452K|ZNF195_ENST00000354599.6_Silent_p.K448K	NM_001130520.2	NP_001123992.1	O14628	ZN195_HUMAN	zinc finger protein 195	520					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		ATTTGTAGGGCTTCTCTCCAG	0.403																																						ENST00000354599.6																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17						c.(1342-1344)aaG>aaA		zinc finger protein 195							168.0	171.0	170.0					11																	3380678		2064	4218	6282	SO:0001819	synonymous_variant	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:3380678C>T		CCDS41604.1, CCDS44521.1, CCDS44522.1, CCDS55736.1, CCDS55737.1, CCDS58111.1	11p15.5	2013-01-08			ENSG00000005801	ENSG00000005801		"""Zinc fingers, C2H2-type"", ""-"""	12986	protein-coding gene	gene with protein product		602187				9344677	Standard	NM_001130520		Approved		uc001lxt.3	O14628	OTTHUMG00000011694	ENST00000399602.4:c.1560G>A	11.37:g.3380678C>T						ZNF195_ENST00000429541.2_Silent_p.K452K|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000399602.4_Silent_p.K520K|ZNF195_ENST00000343338.7_Silent_p.K452K|ZNF195_ENST00000005082.9_Silent_p.K497K|ZNF195_ENST00000526601.1_Silent_p.K501K	p.K448K	NM_001242843.1|NM_001256825.1|NM_007152.4	NP_001229772.1|NP_001243754.1|NP_009083.2	O14628	ZN195_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)	4	1448	-		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)	520					A8K234|B3KTK2|B4DEL0|C9JLY9|L7MNK2|Q0VAJ6|Q658N8|Q6ZNA9	Silent	SNP	ENST00000399602.4	37	c.1344G>A	CCDS44522.1																																																																																				0.403	ZNF195-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032321.2			7	905	0	0	0	5.18039e-06	0	7	905				
ARHGAP35	2909	broad.mit.edu	37	19	47424922	47424922	+	Missense_Mutation	SNP	G	G	T	rs371941437		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr19:47424922G>T	ENST00000404338.3	+	1	2990	c.2990G>T	c.(2989-2991)cGa>cTa	p.R997L		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	997					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)	p.R997Q(1)									AGCCTGTTTCGAGAAGACACA	0.478																																						ENST00000404338.3																			1	Substitution - Missense(1)	p.R997Q(1)	large_intestine(1)								c.(2989-2991)cGa>cTa		Rho GTPase activating protein 35							64.0	63.0	63.0					19																	47424922		1937	4149	6086	SO:0001583	missense	2909				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	g.chr19:47424922G>T	M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.2990G>T	19.37:g.47424922G>T	ENSP00000385720:p.Arg997Leu						p.R997L	NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN			1	2990	+			997					A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	ENST00000404338.3	37	c.2990G>T	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.889137	0.52014	.	.	ENSG00000160007	ENST00000317082;ENST00000404338	T	0.08370	3.1	5.76	5.76	0.90799	.	0.061993	0.64402	D	0.000005	T	0.11239	0.0274	L	0.43152	1.355	0.43678	D	0.996117	P	0.41624	0.757	P	0.47299	0.543	T	0.17531	-1.0366	10	0.11794	T	0.64	-7.3842	12.1257	0.53915	0.0796:0.0:0.9204:0.0	.	997	Q9NRY4-2	.	L	997	ENSP00000385720:R997L	ENSP00000324820:R997L	R	+	2	0	ARHGAP35	52116762	0.993000	0.37304	0.999000	0.59377	0.995000	0.86356	7.298000	0.78815	2.726000	0.93360	0.655000	0.94253	CGA		0.478	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491		8	408	1	0	1.12685e-05	1.12685e-05	0.00155022	8	408				
DPH1	1801	broad.mit.edu	37	17	1943116	1943116	+	Splice_Site	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr17:1943116C>A	ENST00000263083.6	+	7	808	c.763C>A	c.(763-765)Cgg>Agg	p.R255R	OVCA2_ENST00000572195.1_5'Flank|DPH1_ENST00000570477.1_Splice_Site_p.R175R	NM_001383.3	NP_001374.3	Q9BZG8	DPH1_HUMAN	diphthamide biosynthesis 1	255					cell proliferation (GO:0008283)|peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)|translation (GO:0006412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						CCCCGCTTACCGGTATGGGCT	0.577																																						ENST00000263083.6																			0				endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						c.e7+1		diphthamide biosynthesis 1							90.0	97.0	94.0					17																	1943116		1994	4158	6152	SO:0001630	splice_region_variant	1801				peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation	cytoplasm|nucleus		g.chr17:1943116C>A	S81752	CCDS42228.1	17p13.3	2013-05-02	2013-05-02	2005-06-03	ENSG00000108963	ENSG00000108963			3003	protein-coding gene	gene with protein product	"""ovarian tumor suppressor candidate 1"""	603527	"""diptheria toxin resistance protein required for diphthamide biosynthesis-like 1 (S. cerevisiae)"", ""DPH-like 1 (S. cerevisiae)"", ""DPH1 homolog (S. cerevisiae)"""	DPH2L, DPH2L1		8603384, 15485916, 22869748	Standard	NM_001383		Approved	OVCA1	uc002fts.3	Q9BZG8	OTTHUMG00000177724	ENST00000263083.6:c.764+1C>A	17.37:g.1943116C>A						DPH1_ENST00000570477.1_Splice_Site_p.R175_splice	p.R255_splice	NM_001383.3	NP_001374.3	Q9BZG8	DPH1_HUMAN			7	808	+			255					D3DTI3|Q16439|Q4VBA2|Q9BTW7|Q9UCY0	Splice_Site	SNP	ENST00000263083.6	37	c.764_splice	CCDS42228.1																																																																																				0.577	DPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438660.1	NM_001383	Silent	8	497	1	0	2.17888e-05	2.17888e-05	0.002749	8	497				
KRTAP4-11	653240	broad.mit.edu	37	17	39274087	39274087	+	Missense_Mutation	SNP	G	G	C	rs141357429		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	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			7	63	0	0	0	1.12685e-05	0	7	63				
FAM179B	23116	broad.mit.edu	37	14	45475240	45475240	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr14:45475240C>A	ENST00000361577.3	+	5	2888	c.2674C>A	c.(2674-2676)Cag>Aag	p.Q892K	KLHL28_ENST00000553817.1_Intron|FAM179B_ENST00000361462.2_Missense_Mutation_p.Q892K|FAM179B_ENST00000382233.2_Missense_Mutation_p.Q892K	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	892										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						ACCTCCAGTTCAGCTTACACC	0.413																																						ENST00000361462.2																			0				endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						c.(2674-2676)Cag>Aag		family with sequence similarity 179, member B							85.0	86.0	86.0					14																	45475240		2203	4300	6503	SO:0001583	missense	23116						binding	g.chr14:45475240C>A	AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"""KIAA0423"""	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.2674C>A	14.37:g.45475240C>A	ENSP00000355045:p.Gln892Lys					KLHL28_ENST00000553817.1_Intron|FAM179B_ENST00000361577.3_Missense_Mutation_p.Q892K|FAM179B_ENST00000382233.2_Missense_Mutation_p.Q892K	p.Q892K			Q9Y4F4	F179B_HUMAN			5	2857	+			892					Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	37	c.2674C>A	CCDS9681.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.6|23.6	4.440826|4.440826	0.83993|0.83993	.|.	.|.	ENSG00000198718|ENSG00000198718	ENST00000557250|ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233	.|T;T;T	.|0.32515	.|2.71;2.7;1.45	5.39|5.39	4.49|4.49	0.54785|0.54785	.|Armadillo-type fold (1);	.|0.423728	.|0.22562	.|N	.|0.058445	T|T	0.36386|0.36386	0.0965|0.0965	L|L	0.29908|0.29908	0.895|0.895	0.31755|0.31755	N|N	0.63409|0.63409	.|D;D;D	.|0.62365	.|0.991;0.979;0.979	.|P;P;P	.|0.56563	.|0.725;0.801;0.801	T|T	0.35076|0.35076	-0.9803|-0.9803	5|10	.|0.23302	.|T	.|0.38	-4.6402|-4.6402	15.8279|15.8279	0.78727|0.78727	0.0:0.8634:0.1366:0.0|0.0:0.8634:0.1366:0.0	.|.	.|892;892;892	.|G3XAE9;Q9Y4F4;Q9Y4F4-2	.|.;F179B_HUMAN;.	L|K	83|892	.|ENSP00000355045:Q892K;ENSP00000354917:Q892K;ENSP00000371668:Q892K	.|ENSP00000354917:Q892K	F|Q	+|+	3|1	2|0	FAM179B|FAM179B	44544990|44544990	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	3.803000|3.803000	0.55560|0.55560	1.271000|1.271000	0.44313|0.44313	0.558000|0.558000	0.71614|0.71614	TTC|CAG		0.413	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	XM_113781		11	575	1	0	0.00010058	0.00010058	0.00856336	11	575				
KLHL7	55975	broad.mit.edu	37	7	23183515	23183515	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr7:23183515C>A	ENST00000339077.5	+	6	907	c.664C>A	c.(664-666)Cgc>Agc	p.R222S	KLHL7_ENST00000545443.1_Missense_Mutation_p.R200S|KLHL7_ENST00000539124.1_Missense_Mutation_p.R146S|KLHL7_ENST00000542558.1_5'UTR|KLHL7_ENST00000479288.1_3'UTR|KLHL7_ENST00000409689.1_Missense_Mutation_p.R174S|KLHL7_ENST00000322231.7_Missense_Mutation_p.R200S	NM_001031710.2	NP_001026880.2	Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	222	BACK.				protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TGAACCTAATCGCCAGCCATT	0.378																																						ENST00000322231.7																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(598-600)Cgc>Agc		kelch-like family member 7							224.0	209.0	214.0					7																	23183515		2203	4300	6503	SO:0001583	missense	55975					Golgi apparatus|nucleolus|plasma membrane		g.chr7:23183515C>A		CCDS5378.1, CCDS34609.1, CCDS5378.2, CCDS55095.1	7p15.3	2013-01-30	2013-01-30		ENSG00000122550	ENSG00000122550		"""Kelch-like"", ""BTB/POZ domain containing"""	15646	protein-coding gene	gene with protein product	"""retinitis pigmentosa 42"""	611119	"""kelch-like 7 (Drosophila)"""			19520207	Standard	NM_001031710		Approved	KLHL6, SBBI26, RP42	uc003svs.4	Q8IXQ5	OTTHUMG00000094813	ENST00000339077.5:c.664C>A	7.37:g.23183515C>A	ENSP00000343273:p.Arg222Ser					KLHL7_ENST00000479288.1_3'UTR|KLHL7_ENST00000339077.4_Missense_Mutation_p.R222S|KLHL7_ENST00000409689.1_Missense_Mutation_p.R174S|KLHL7_ENST00000542558.1_5'UTR|KLHL7_ENST00000539124.1_Missense_Mutation_p.R146S|KLHL7_ENST00000545443.1_Missense_Mutation_p.R200S	p.R200S			Q8IXQ5	KLHL7_HUMAN			7	1088	+			222					A4D144|B7Z5I9|G5E9G3|Q7Z765|Q96MV2|Q9BQF8|Q9UDQ9	Missense_Mutation	SNP	ENST00000339077.5	37	c.598C>A	CCDS34609.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.603408	0.87157	.	.	ENSG00000122550	ENST00000536369;ENST00000322231;ENST00000339077;ENST00000539124;ENST00000409689;ENST00000545443	T;T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73;-0.73	5.43	5.43	0.79202	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	D	0.87815	0.6272	M	0.91354	3.2	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.71870	0.975;0.957	D	0.90023	0.4129	10	0.87932	D	0	.	19.5857	0.95489	0.0:1.0:0.0:0.0	.	222;200	Q8IXQ5;Q8IXQ5-2	KLHL7_HUMAN;.	S	188;200;222;146;174;200	ENSP00000322958:R200S;ENSP00000343273:R222S;ENSP00000441136:R146S;ENSP00000386263:R174S;ENSP00000442366:R200S	ENSP00000322958:R200S	R	+	1	0	KLHL7	23150040	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.276000	0.58933	2.696000	0.92011	0.591000	0.81541	CGC		0.378	KLHL7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326860.3	NM_018846		13	1105	1	0	0.00010058	0.00010058	0.00856336	13	1105				
ABCC12	94160	broad.mit.edu	37	16	48149365	48149365	+	Silent	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr16:48149365G>T	ENST00000311303.3	-	13	2295	c.1950C>A	c.(1948-1950)ctC>ctA	p.L650L	ABCC12_ENST00000448542.1_Silent_p.L650L|ABCC12_ENST00000416054.1_Nonsense_Mutation_p.S626*	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	650	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TCTTTCCCCTGAGCGTCTTCT	0.607																																						ENST00000416054.1																			0				NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90						c.(1876-1878)tCa>tAa		ATP-binding cassette, sub-family C (CFTR/MRP), member 12							193.0	177.0	182.0					16																	48149365		2201	4300	6501	SO:0001819	synonymous_variant	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48149365G>T	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.1950C>A	16.37:g.48149365G>T						ABCC12_ENST00000448542.1_Silent_p.L650L|ABCC12_ENST00000311303.3_Silent_p.L650L	p.S626*			Q96J65	MRP9_HUMAN			12	1882	-		all_cancers(37;0.0474)|all_lung(18;0.047)	0			ABC transporter 1.		Q49AL2|Q8TAF0|Q8TEY2	Nonsense_Mutation	SNP	ENST00000311303.3	37	c.1877C>A	CCDS10730.1	.	.	.	.	.	.	.	.	.	.	G	36	5.711257	0.96821	.	.	ENSG00000140798	ENST00000416054	.	.	.	5.24	0.714	0.18180	.	.	.	.	.	.	.	.	.	.	.	0.47123	A	0.999322	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	1.794	0.03057	0.2309:0.2487:0.3932:0.1272	.	.	.	.	X	626	.	ENSP00000413046:S626X	S	-	2	0	ABCC12	46706866	0.000000	0.05858	0.903000	0.35520	0.535000	0.34838	-0.463000	0.06696	0.286000	0.22352	0.467000	0.42956	TCA		0.607	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		11	695	1	0	3.45872e-05	3.45872e-05	0.00404903	11	695				
KBTBD7	84078	broad.mit.edu	37	13	41766701	41766701	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr13:41766701C>A	ENST00000379483.3	-	1	2001	c.1693G>T	c.(1693-1695)Gac>Tac	p.D565Y		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	565										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		AACTTTTGGTCATGATTGACA	0.428																																						ENST00000379483.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(1693-1695)Gac>Tac		kelch repeat and BTB (POZ) domain containing 7							178.0	175.0	176.0					13																	41766701		2203	4300	6503	SO:0001583	missense	84078						protein binding	g.chr13:41766701C>A	AL136782	CCDS9377.1	13q13.3	2013-01-08			ENSG00000120696	ENSG00000120696		"""BTB/POZ domain containing"""	25266	protein-coding gene	gene with protein product						11230166	Standard	NM_032138		Approved	DKFZP434E2318	uc001uxw.1	Q8WVZ9	OTTHUMG00000016789	ENST00000379483.3:c.1693G>T	13.37:g.41766701C>A	ENSP00000368797:p.Asp565Tyr						p.D565Y	NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)	1	2001	-		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)	565					B5TZ86|Q5T6Y7|Q8NB99|Q9H0I6	Missense_Mutation	SNP	ENST00000379483.3	37	c.1693G>T	CCDS9377.1	.	.	.	.	.	.	.	.	.	.	C	7.206	0.594450	0.13875	.	.	ENSG00000120696	ENST00000379483;ENST00000501885	T	0.70164	-0.46	5.37	5.37	0.77165	Kelch-type beta propeller (1);	0.277584	0.34110	U	0.004247	T	0.51753	0.1693	N	0.19112	0.55	0.36583	D	0.87366	P	0.36495	0.556	B	0.31016	0.123	T	0.65228	-0.6219	10	0.72032	D	0.01	.	16.5964	0.84797	0.0:1.0:0.0:0.0	.	565	Q8WVZ9	KBTB7_HUMAN	Y	565;467	ENSP00000368797:D565Y	ENSP00000368797:D565Y	D	-	1	0	KBTBD7	40664701	1.000000	0.71417	1.000000	0.80357	0.210000	0.24377	1.986000	0.40677	2.502000	0.84385	0.557000	0.71058	GAC		0.428	KBTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044660.1	NM_032138		14	847	1	0	5.3912e-06	7.07596e-05	0.000838376	14	847				
DST	667	broad.mit.edu	37	6	56504494	56504494	+	Splice_Site	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr6:56504494C>A	ENST00000361203.3	-	16	2071	c.2064G>T	c.(2062-2064)ttG>ttT	p.L688F	DST_ENST00000518935.1_Splice_Site_p.L362F|DST_ENST00000446842.2_Splice_Site_p.L362F|DST_ENST00000370754.5_Splice_Site_p.L866F|DST_ENST00000421834.2_Splice_Site_p.L688F|DST_ENST00000370769.4_Splice_Site_p.L688F|DST_ENST00000370765.6_Splice_Site_p.L362F|DST_ENST00000244364.6_Splice_Site_p.L362F|DST_ENST00000370788.2_Splice_Site_p.L688F|DST_ENST00000312431.6_Splice_Site_p.L688F			Q03001	DYST_HUMAN	dystonin	688					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AAAAACTTACCAAGAGTTTTG	0.313																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.e19+1		dystonin							114.0	130.0	124.0					6																	56504494		2200	4297	6497	SO:0001630	splice_region_variant	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56504494C>A	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.2064+1G>T	6.37:g.56504494C>A						DST_ENST00000370788.2_Splice_Site_p.L688_splice|DST_ENST00000370769.4_Splice_Site_p.L688_splice|DST_ENST00000244364.6_Splice_Site_p.L362_splice|DST_ENST00000370765.6_Splice_Site_p.L362_splice|DST_ENST00000518935.1_Splice_Site_p.L362_splice|DST_ENST00000421834.2_Splice_Site_p.L688_splice|DST_ENST00000361203.3_Splice_Site_p.L688_splice|DST_ENST00000312431.6_Splice_Site_p.L688_splice|DST_ENST00000446842.2_Splice_Site_p.L362_splice	p.L866_splice			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		19	2597	-	Lung NSC(77;0.103)		688					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Splice_Site	SNP	ENST00000361203.3	37	c.2598_splice		.	.	.	.	.	.	.	.	.	.	C	20.5	3.999634	0.74818	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935	T;T;T;T;T;D;T;T;D;D;T;D	0.93426	-0.22;-0.22;-0.22;-0.22;-0.22;-3.22;-0.22;-0.22;-3.22;-3.22;-0.22;-3.22	5.56	5.56	0.83823	.	0.000000	0.42294	D	0.000732	D	0.96731	0.8933	M	0.82323	2.585	0.35858	D	0.827266	D;B;D;B;D;D;D;D;B;D	0.89917	1.0;0.376;0.999;0.376;1.0;0.996;0.999;1.0;0.376;0.999	D;B;D;B;D;P;D;D;B;D	0.91635	0.994;0.099;0.984;0.099;0.998;0.901;0.968;0.999;0.099;0.982	D	0.96055	0.9034	8	.	.	.	.	19.5303	0.95226	0.0:1.0:0.0:0.0	.	717;688;688;866;804;362;362;362;688;362	B4DGY0;Q5TBT1;E7ERU2;E9PEB9;Q03001-13;Q6P0N6;Q03001-3;Q03001-9;Q03001;Q03001-8	.;.;.;.;.;.;.;.;DYST_HUMAN;.	F	362;866;688;688;362;688;688;688;362;728;362;362	ENSP00000244364:L362F;ENSP00000359790:L866F;ENSP00000359805:L688F;ENSP00000400883:L688F;ENSP00000393645:L362F;ENSP00000307959:L688F;ENSP00000359824:L688F;ENSP00000354508:L688F;ENSP00000404924:L362F;ENSP00000431030:L728F;ENSP00000359801:L362F;ENSP00000431003:L362F	.	L	-	3	2	DST	56612453	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.487000	0.81328	2.619000	0.88677	0.557000	0.71058	TTG		0.313	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723	Missense_Mutation	13	959	1	0	1.08611e-07	6.40141e-05	2.24125e-05	13	959				
PRDM2	7799	broad.mit.edu	37	1	14107823	14107823	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr1:14107823C>A	ENST00000235372.7	+	8	4389	c.3533C>A	c.(3532-3534)tCa>tAa	p.S1178*	PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000413440.1_Nonsense_Mutation_p.S977*|PRDM2_ENST00000343137.4_Nonsense_Mutation_p.S977*|PRDM2_ENST00000311066.5_Nonsense_Mutation_p.S1178*|PRDM2_ENST00000503842.1_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1178					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		ACGGACTTGTCAGAACATCGC	0.363																																						ENST00000235372.7																			0				endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55						c.(3532-3534)tCa>tAa		PR domain containing 2, with ZNF domain							107.0	106.0	107.0					1																	14107823		2203	4300	6503	SO:0001587	stop_gained	7799					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:14107823C>A	U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"""Chromatin-modifying enzymes / K-methyltransferases"""	9347	protein-coding gene	gene with protein product	"""retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""MTE-binding protein"", ""zinc-finger DNA-binding protein"", ""GATA-3 binding protein G3B"""	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.3533C>A	1.37:g.14107823C>A	ENSP00000235372:p.Ser1178*					PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000343137.4_Nonsense_Mutation_p.S977*|PRDM2_ENST00000311066.5_Nonsense_Mutation_p.S1178*|PRDM2_ENST00000413440.1_Nonsense_Mutation_p.S977*	p.S1178*	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)	8	4389	+	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	1178					B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Nonsense_Mutation	SNP	ENST00000235372.7	37	c.3533C>A	CCDS150.1	.	.	.	.	.	.	.	.	.	.	C	41	8.666899	0.98908	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	.	.	.	5.97	5.97	0.96955	.	0.079867	0.56097	D	0.000029	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	.	18.9918	0.92796	0.0:1.0:0.0:0.0	.	.	.	.	X	1178;1178;1178;977;977	.	ENSP00000235372:S1178X	S	+	2	0	PRDM2	13980410	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.592000	0.67543	2.837000	0.97791	0.655000	0.94253	TCA		0.363	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		11	791	1	0	6.40141e-05	6.40141e-05	0.00606515	11	791				
TRMT13	54482	broad.mit.edu	37	1	100602634	100602634	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr1:100602634C>A	ENST00000370141.2	+	3	260	c.254C>A	c.(253-255)cCa>cAa	p.P85Q	TRMT13_ENST00000370139.1_Missense_Mutation_p.P54Q|TRMT13_ENST00000370143.1_Missense_Mutation_p.P85Q	NM_019083.2	NP_061956.2	Q9NUP7	TRM13_HUMAN	tRNA methyltransferase 13 homolog (S. cerevisiae)	85					tRNA processing (GO:0008033)		metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)										AGAGAGAAACCAAAACCTGTA	0.338																																						ENST00000370141.2																			0											c.(253-255)cCa>cAa		tRNA methyltransferase 13 homolog (S. cerevisiae)							83.0	87.0	86.0					1																	100602634		2203	4300	6503	SO:0001583	missense	54482							g.chr1:100602634C>A	BC075811	CCDS765.1	1p21.2	2012-06-07	2012-06-07	2012-06-07	ENSG00000122435	ENSG00000122435			25502	protein-coding gene	gene with protein product			"""coiled-coil domain containing 76"""	CCDC76		11799066	Standard	NM_019083		Approved	FLJ10287, FLJ11219	uc001dsv.3	Q9NUP7	OTTHUMG00000010841	ENST00000370141.2:c.254C>A	1.37:g.100602634C>A	ENSP00000359160:p.Pro85Gln					TRMT13_ENST00000370139.1_Missense_Mutation_p.P54Q|TRMT13_ENST00000370143.1_Missense_Mutation_p.P85Q	p.P85Q	NM_019083.2	NP_061956.2					3	260	+								Q5VVL0|Q9NW65	Missense_Mutation	SNP	ENST00000370141.2	37	c.254C>A	CCDS765.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.326621	0.81690	.	.	ENSG00000122435	ENST00000370143;ENST00000370141;ENST00000370139	T;T;T	0.42513	1.03;1.02;0.97	5.78	5.78	0.91487	.	0.048914	0.85682	D	0.000000	T	0.52757	0.1754	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	0.994;1.0	P;D	0.73380	0.88;0.98	T	0.30995	-0.9959	10	0.23302	T	0.38	-10.4814	19.5995	0.95554	0.0:1.0:0.0:0.0	.	85;85	B4DQS9;Q9NUP7	.;TRM13_HUMAN	Q	85;85;54	ENSP00000359162:P85Q;ENSP00000359160:P85Q;ENSP00000359158:P54Q	ENSP00000359158:P54Q	P	+	2	0	CCDC76	100375222	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.923000	0.75817	2.714000	0.92807	0.650000	0.86243	CCA		0.338	TRMT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029919.1	NM_019083		13	907	1	0	1.58986e-06	3.86212e-05	0.000286764	13	907				
SLC25A13	10165	broad.mit.edu	37	7	95818680	95818680	+	Missense_Mutation	SNP	A	A	C			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr7:95818680A>C	ENST00000265631.5	-	9	995	c.859T>G	c.(859-861)Tta>Gta	p.L287V	SLC25A13_ENST00000416240.2_Missense_Mutation_p.L287V|SLC25A13_ENST00000542654.1_Missense_Mutation_p.L179V			Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	287					aspartate transport (GO:0015810)|ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular respiration (GO:0045333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|transporter activity (GO:0005215)			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	ATGTCTGCTAAGGTCATACGT	0.393																																						ENST00000416240.2																			0				breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42						c.(859-861)Tta>Gta		solute carrier family 25 (aspartate/glutamate carrier), member 13	L-Aspartic Acid(DB00128)						94.0	92.0	92.0					7																	95818680		2203	4300	6503	SO:0001583	missense	10165				ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity	g.chr7:95818680A>C	AF118838	CCDS5645.1, CCDS55130.1	7q21.3	2013-05-22	2012-03-29		ENSG00000004864	ENSG00000004864		"""Solute carriers"", ""EF-hand domain containing"""	10983	protein-coding gene	gene with protein product	"""mitochondrial aspartate glutamate carrier 2"""	603859	"""solute carrier family 25, member 13 (citrin)"""	CTLN2		10369257	Standard	NM_014251		Approved	CITRIN, ARALAR2	uc003uog.4	Q9UJS0	OTTHUMG00000023074	ENST00000265631.5:c.859T>G	7.37:g.95818680A>C	ENSP00000265631:p.Leu287Val					SLC25A13_ENST00000265631.5_Missense_Mutation_p.L287V|SLC25A13_ENST00000542654.1_Missense_Mutation_p.L179V	p.L287V	NM_001160210.1|NM_014251.2	NP_001153682.1|NP_055066.1	Q9UJS0	CMC2_HUMAN	STAD - Stomach adenocarcinoma(171;0.194)		9	1049	-	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		287					O14566|O14575|Q546F9|Q9NZW1|Q9UNI7	Missense_Mutation	SNP	ENST00000265631.5	37	c.859T>G	CCDS5645.1	.	.	.	.	.	.	.	.	.	.	A	8.292	0.818007	0.16607	.	.	ENSG00000004864	ENST00000265631;ENST00000416240;ENST00000542654	T;T;T	0.80653	-1.4;-1.39;-1.37	4.69	3.55	0.40652	EF-hand-like domain (1);	.	.	.	.	T	0.79678	0.4487	M	0.83223	2.63	0.42021	D	0.990984	B;B;B	0.25206	0.12;0.073;0.073	B;B;B	0.28916	0.096;0.044;0.044	T	0.76326	-0.3000	9	0.42905	T	0.14	-8.2043	6.7603	0.23536	0.7888:0.0:0.0753:0.1359	.	179;287;287	F5GX33;Q546F9;Q9UJS0	.;.;CMC2_HUMAN	V	287;287;179	ENSP00000265631:L287V;ENSP00000400101:L287V;ENSP00000440484:L179V	ENSP00000265631:L287V	L	-	1	2	SLC25A13	95656616	0.324000	0.24652	1.000000	0.80357	0.164000	0.22412	1.072000	0.30678	1.129000	0.42072	0.533000	0.62120	TTA		0.393	SLC25A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059395.2	NM_014251		13	316	0	0	0	1.49906e-05	0	13	316				
ZNF502	91392	broad.mit.edu	37	3	44762976	44762976	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr3:44762976C>A	ENST00000296091.4	+	4	923	c.667C>A	c.(667-669)Cga>Aga	p.R223R	ZNF502_ENST00000436624.2_Silent_p.R223R|ZNF502_ENST00000449836.1_Silent_p.R223R	NM_001134440.1|NM_001282880.1|NM_033210.4	NP_001127912.1|NP_001269809.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	223					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)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		ATTTCGATGTCGATCATTTCT	0.398																																						ENST00000296091.4																			0				NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19						c.(667-669)Cga>Aga		zinc finger protein 502							153.0	159.0	157.0					3																	44762976		2203	4300	6503	SO:0001819	synonymous_variant	91392				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:44762976C>A	AK022577	CCDS2719.1	3p21.32	2013-01-08			ENSG00000196653	ENSG00000196653		"""Zinc fingers, C2H2-type"""	23718	protein-coding gene	gene with protein product							Standard	NM_033210		Approved	FLJ14855, FLJ12515	uc003cnt.3	Q8TBZ5	OTTHUMG00000133086	ENST00000296091.4:c.667C>A	3.37:g.44762976C>A						ZNF502_ENST00000436624.2_Silent_p.R223R|ZNF502_ENST00000449836.1_Silent_p.R223R	p.R223R	NM_001134440.1|NM_033210.4	NP_001127912.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)	4	923	+			223						Silent	SNP	ENST00000296091.4	37	c.667C>A	CCDS2719.1																																																																																				0.398	ZNF502-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256744.4	NM_033210		17	938	1	0	9.7654e-05	9.7654e-05	0.00856336	17	938				
ASB10	136371	broad.mit.edu	37	7	150878170	150878170	+	Silent	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr7:150878170G>T	ENST00000420175.2	-	3	984	c.960C>A	c.(958-960)gcC>gcA	p.A320A	ASB10_ENST00000275838.1_Silent_p.A320A|ASB10_ENST00000422024.1_Silent_p.A365A|ASB10_ENST00000434669.1_Silent_p.A365A|ASB10_ENST00000377867.3_Silent_p.A305A			Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	320			A -> T (in GLC1F; uncertain pathological significance). {ECO:0000269|PubMed:22156576}.		intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCATGGTGTTGGCGCTGACAC	0.682																																						ENST00000422024.1																			0				NS(1)|endometrium(2)|lung(7)|skin(2)	12						c.(1093-1095)gcC>gcA		ankyrin repeat and SOCS box containing 10							48.0	41.0	43.0					7																	150878170		2203	4297	6500	SO:0001819	synonymous_variant	136371				intracellular signal transduction			g.chr7:150878170G>T	AK055536	CCDS5921.2, CCDS47749.1, CCDS47750.1, CCDS47749.2, CCDS47750.2	7q35	2014-02-04	2011-01-25		ENSG00000146926	ENSG00000146926		"""Ankyrin repeat domain containing"""	17185	protein-coding gene	gene with protein product		615054	"""ankyrin repeat and SOCS box-containing 10"", ""glaucoma 1, open angle, F (adult-onset)"""	GLC1F		22156576	Standard	NM_080871		Approved		uc003wjm.1	Q8WXI3	OTTHUMG00000157013	ENST00000420175.2:c.960C>A	7.37:g.150878170G>T						ASB10_ENST00000377867.3_Silent_p.A305A|ASB10_ENST00000275838.1_Silent_p.A320A|ASB10_ENST00000434669.1_Silent_p.A365A|ASB10_ENST00000420175.2_Silent_p.A320A	p.A365A	NM_001142459.1	NP_001135931.2	Q8WXI3	ASB10_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	1220	-			320					A0AVH0|Q6ZUL6	Silent	SNP	ENST00000420175.2	37	c.1095C>A	CCDS47750.2																																																																																				0.682	ASB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347096.3	NM_080871		6	274	1	0	5.18039e-06	5.18039e-06	0.000838376	6	274				
FRG1B	284802	broad.mit.edu	37	20	29628282	29628282	+	Missense_Mutation	SNP	G	G	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr20:29628282G>A	ENST00000278882.3	+	6	664	c.284G>A	c.(283-285)gGg>gAg	p.G95E	FRG1B_ENST00000439954.2_Missense_Mutation_p.G100E|FRG1B_ENST00000358464.4_Missense_Mutation_p.G95E			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	95										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AATGAAGCAGGGGACATAGAA	0.373																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(283-285)gGg>gAg																																						SO:0001583	missense	0							g.chr20:29628282G>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.284G>A	20.37:g.29628282G>A	ENSP00000278882:p.Gly95Glu					FRG1B_ENST00000358464.4_Missense_Mutation_p.G95E|FRG1B_ENST00000439954.2_Missense_Mutation_p.G100E	p.G95E							6	664	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.284G>A		.	.	.	.	.	.	.	.	.	.	g	18.02	3.529440	0.64860	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.56103	0.48	2.08	2.08	0.27032	Actin cross-linking (1);	0.051750	0.85682	D	0.000000	T	0.52092	0.1713	.	.	.	0.58432	D	0.999996	B;P	0.39940	0.309;0.696	P;P	0.46543	0.492;0.52	T	0.54221	-0.8326	9	0.45353	T	0.12	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	100;95	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	E	95;100;95	ENSP00000408863:G100E	ENSP00000278882:G95E	G	+	2	0	FRG1B	28241943	1.000000	0.71417	0.998000	0.56505	0.945000	0.59286	8.494000	0.90477	1.475000	0.48197	0.423000	0.28283	GGG		0.373	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		8	712	0	0	0	5.01169e-05	0	8	712				
HMCN1	83872	broad.mit.edu	37	1	185931765	185931765	+	Silent	SNP	C	C	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr1:185931765C>T	ENST00000271588.4	+	12	2173	c.1944C>T	c.(1942-1944)aaC>aaT	p.N648N	HMCN1_ENST00000367492.2_Silent_p.N648N|HMCN1_ENST00000485744.1_3'UTR	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	648	Ig-like C2-type 3.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GGACCGTTAACGATATGTTTA	0.413																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(1942-1944)aaC>aaT		hemicentin 1							207.0	190.0	196.0					1																	185931765		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185931765C>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.1944C>T	1.37:g.185931765C>T						HMCN1_ENST00000485744.1_3'UTR|HMCN1_ENST00000367492.2_Silent_p.N648N	p.N648N	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			12	2173	+			648			Ig-like C2-type 3.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.1944C>T	CCDS30956.1																																																																																				0.413	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		15	1010	0	0	0	9.7654e-05	0	15	1010				
ZNF845	91664	broad.mit.edu	37	19	53856730	53856730	+	Silent	SNP	G	G	A	rs201351032	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	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		10	246	0	0	0	2.31682e-05	0	10	246				
PFKP	5214	broad.mit.edu	37	10	3149495	3149495	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr10:3149495C>A	ENST00000381125.4	+	8	940	c.864C>A	c.(862-864)atC>atA	p.I288I	PFKP_ENST00000381075.2_Silent_p.I280I	NM_002627.4	NP_002618.1	Q01813	PFKAP_HUMAN	phosphofructokinase, platelet	288	N-terminal catalytic PFK domain 1.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein complex binding (GO:0032403)			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		CTGAGAAAATCAAAGAGGTGA	0.458																																						ENST00000381075.2																			0				breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(838-840)atC>atA		phosphofructokinase, platelet							64.0	64.0	64.0					10																	3149495		2199	4300	6499	SO:0001819	synonymous_variant	5214				glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding	g.chr10:3149495C>A	AK092597	CCDS7059.1, CCDS55698.1	10p15.3-p15.2	2006-08-25			ENSG00000067057	ENSG00000067057	2.7.1.11		8878	protein-coding gene	gene with protein product	"""Phosphofructokinase, platelet type"""	171840					Standard	NM_002627		Approved	PFK-C, PFKF	uc001igp.3	Q01813	OTTHUMG00000017556	ENST00000381125.4:c.864C>A	10.37:g.3149495C>A						PFKP_ENST00000381125.4_Silent_p.I288I	p.I280I	NM_001242339.1	NP_001229268.1	Q01813	K6PP_HUMAN		GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)	10	1064	+			288					B3KS15|Q5VSR7|Q5VSR8	Silent	SNP	ENST00000381125.4	37	c.840C>A	CCDS7059.1																																																																																				0.458	PFKP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046454.1	NM_002627		10	400	1	0	1.58986e-06	3.86212e-05	0.000286764	10	400				
FEM1B	10116	broad.mit.edu	37	15	68582429	68582429	+	Missense_Mutation	SNP	G	G	T	rs375920632		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr15:68582429G>T	ENST00000306917.4	+	2	1348	c.733G>T	c.(733-735)Gac>Tac	p.D245Y		NM_015322.4	NP_056137.1	Q9UK73	FEM1B_HUMAN	fem-1 homolog b (C. elegans)	245					apoptotic process (GO:0006915)|branching involved in prostate gland morphogenesis (GO:0060442)|epithelial cell maturation involved in prostate gland development (GO:0060743)|regulation of DNA damage checkpoint (GO:2000001)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of ubiquitin-protein transferase activity (GO:0051438)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	death receptor binding (GO:0005123)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						TGCTGATTGCGACCGAAGAAG	0.438																																						ENST00000306917.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						c.(733-735)Gac>Tac		fem-1 homolog b (C. elegans)							133.0	130.0	131.0					15																	68582429		2200	4298	6498	SO:0001583	missense	10116				apoptosis|induction of apoptosis|regulation of DNA damage checkpoint|regulation of ubiquitin-protein ligase activity	cytoplasm|nucleus	death receptor binding|ubiquitin-protein ligase activity	g.chr15:68582429G>T		CCDS10228.1	15q22	2013-02-19	2001-11-28		ENSG00000169018	ENSG00000169018		"""Ankyrin repeat domain containing"""	3649	protein-coding gene	gene with protein product		613539	"""FEM-1 (C. elegans) homolog b"""			10623617	Standard	NM_015322		Approved		uc002arg.3	Q9UK73	OTTHUMG00000133285	ENST00000306917.4:c.733G>T	15.37:g.68582429G>T	ENSP00000307298:p.Asp245Tyr						p.D245Y	NM_015322.3	NP_056137.1	Q9UK73	FEM1B_HUMAN			2	1348	+			245					O43146	Missense_Mutation	SNP	ENST00000306917.4	37	c.733G>T	CCDS10228.1	.	.	.	.	.	.	.	.	.	.	G	17.16	3.317944	0.60524	.	.	ENSG00000169018	ENST00000306917	T	0.60797	0.16	5.77	5.77	0.91146	Ankyrin repeat-containing domain (1);	0.041995	0.85682	D	0.000000	T	0.60483	0.2272	L	0.38175	1.15	0.80722	D	1	P	0.48694	0.914	P	0.52793	0.709	T	0.62661	-0.6807	10	0.72032	D	0.01	-13.848	14.2431	0.65971	0.0734:0.0:0.9266:0.0	.	245	Q9UK73	FEM1B_HUMAN	Y	245	ENSP00000307298:D245Y	ENSP00000307298:D245Y	D	+	1	0	FEM1B	66369483	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	6.746000	0.74866	2.717000	0.92951	0.555000	0.69702	GAC		0.438	FEM1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257065.1			9	587	1	0	2.17888e-05	2.17888e-05	0.002749	9	587				
SCN2A	6326	broad.mit.edu	37	2	166226782	166226782	+	Nonsense_Mutation	SNP	G	G	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr2:166226782G>A	ENST00000375437.2	+	20	4112	c.3822G>A	c.(3820-3822)tgG>tgA	p.W1274*	SCN2A_ENST00000357398.3_Nonsense_Mutation_p.W1274*|SCN2A_ENST00000283256.6_Nonsense_Mutation_p.W1274*|SCN2A_ENST00000375427.2_Nonsense_Mutation_p.W1274*	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1274					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CCAATGCCTGGTGCTGGCTAG	0.393																																						ENST00000375437.2																			0				NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(3820-3822)tgG>tgA		sodium channel, voltage-gated, type II, alpha subunit	Lamotrigine(DB00555)						206.0	190.0	195.0					2																	166226782		2203	4300	6503	SO:0001587	stop_gained	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166226782G>A	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.3822G>A	2.37:g.166226782G>A	ENSP00000364586:p.Trp1274*					SCN2A_ENST00000283256.6_Nonsense_Mutation_p.W1274*|SCN2A_ENST00000357398.3_Nonsense_Mutation_p.W1274*|SCN2A_ENST00000375427.2_Nonsense_Mutation_p.W1274*	p.W1274*	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN			20	4112	+			1274					A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Nonsense_Mutation	SNP	ENST00000375437.2	37	c.3822G>A	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	G	44	10.760907	0.99463	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	.	.	.	5.97	5.97	0.96955	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.4324	0.99085	0.0:0.0:1.0:0.0	.	.	.	.	X	1274	.	ENSP00000283256:W1274X	W	+	3	0	SCN2A	165935028	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.833000	0.97629	0.585000	0.79938	TGG		0.393	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		16	1008	0	0	0	5.01169e-05	0	16	1008				
EVI2A	2123	broad.mit.edu	37	17	29645652	29645652	+	Missense_Mutation	SNP	G	G	A	rs139943451		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr17:29645652G>A	ENST00000462804.2	-	2	779	c.380C>T	c.(379-381)gCg>gTg	p.A127V	EVI2A_ENST00000461237.1_Missense_Mutation_p.A127V|NF1_ENST00000356175.3_Intron|EVI2A_ENST00000247270.3_Missense_Mutation_p.A150V|NF1_ENST00000358273.4_Intron|CTD-2370N5.3_ENST00000578584.1_Silent_p.C66C|NF1_ENST00000581113.2_Intron	NM_014210.3	NP_055025.2	P22794	EVI2A_HUMAN	ecotropic viral integration site 2A	127					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)		GTTGTTTTCCGCACAGACATC	0.358																																						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.(448-450)gCg>gTg		ecotropic viral integration site 2A		G	,VAL/ALA,,VAL/ALA	2,4404	4.2+/-10.8	0,2,2201	123.0	123.0	123.0		,449,,380	-0.6	1.0	17	dbSNP_134	123	0,8600		0,0,4300	yes	intron,missense,intron,missense	EVI2A,NF1	NM_000267.3,NM_001003927.2,NM_001042492.2,NM_014210.3	,64,,64	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,benign,,benign	,150/260,,127/237	29645652	2,13004	2203	4300	6503	SO:0001583	missense	2123					integral to membrane	transmembrane receptor activity	g.chr17:29645652G>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.380C>T	17.37:g.29645652G>A	ENSP00000420557:p.Ala127Val					NF1_ENST00000358273.4_Intron|NF1_ENST00000581113.2_Intron|NF1_ENST00000356175.3_Intron|EVI2A_ENST00000461237.1_Missense_Mutation_p.A127V|EVI2A_ENST00000462804.2_Missense_Mutation_p.A127V|CTD-2370N5.3_ENST00000578584.1_Silent_p.C66C	p.A150V	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	785	-		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)	127					B2R5X2|B4DHX8	Missense_Mutation	SNP	ENST00000462804.2	37	c.449C>T	CCDS42293.1	.	.	.	.	.	.	.	.	.	.	G	11.96	1.794693	0.31777	4.54E-4	0.0	ENSG00000126860	ENST00000394755;ENST00000462804;ENST00000461237;ENST00000247270	.	.	.	5.71	-0.577	0.11727	.	0.306449	0.31909	N	0.006869	T	0.27454	0.0674	N	0.08118	0	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.03473	-1.1033	9	0.30854	T	0.27	.	10.2437	0.43328	0.1006:0.0:0.3206:0.5788	.	127;150	P22794;P22794-2	EVI2A_HUMAN;.	V	127;123;127;150	.	ENSP00000247270:A150V	A	-	2	0	EVI2A	26669778	0.978000	0.34361	0.957000	0.39632	0.939000	0.58152	1.120000	0.31271	-0.427000	0.07350	-2.232000	0.00291	GCG		0.358	EVI2A-001	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354491.3	NM_014210		8	836	0	0	0	1.12685e-05	0	8	836				
ZNF665	79788	broad.mit.edu	37	19	53669363	53669363	+	Missense_Mutation	SNP	C	C	T	rs201506528		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr19:53669363C>T	ENST00000600412.1	-	2	300	c.185G>A	c.(184-186)cGt>cAt	p.R62H	ZNF665_ENST00000396424.3_Missense_Mutation_p.R127H|CTD-2245F17.2_ENST00000600257.1_RNA			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	62					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)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		CCTTCTATCACGTTGAGCTCT	0.393													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20617	0.0		0.0	False		,,,				2504	0.0					ENST00000600412.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35						c.(184-186)cGt>cAt		zinc finger protein 665							117.0	123.0	121.0					19																	53669363		2088	4240	6328	SO:0001583	missense	79788				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53669363C>T		CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497		"""Zinc fingers, C2H2-type"", ""-"""	25885	protein-coding gene	gene with protein product							Standard	NM_024733		Approved	FLJ14345	uc010eqm.1	Q9H7R5		ENST00000600412.1:c.185G>A	19.37:g.53669363C>T	ENSP00000469154:p.Arg62His					ZNF665_ENST00000396424.3_Missense_Mutation_p.R127H	p.R62H			Q9H7R5	ZN665_HUMAN		GBM - Glioblastoma multiforme(134;0.0196)	2	300	-			62					A8K5T8	Missense_Mutation	SNP	ENST00000600412.1	37	c.185G>A		1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	0.005	-2.190842	0.00302	.	.	ENSG00000197497	ENST00000396424	T	0.08370	3.1	1.9	-3.79	0.04320	.	.	.	.	.	T	0.00998	0.0033	N	0.00040	-2.5	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.40440	-0.9563	9	0.02654	T	1	.	6.2359	0.20762	0.0:0.5693:0.1785:0.2522	.	127	Q9H7R5-2	.	H	127	ENSP00000379702:R127H	ENSP00000379702:R127H	R	-	2	0	ZNF665	58361175	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.134000	0.03228	-1.158000	0.02811	-0.382000	0.06688	CGT		0.393	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000464179.1	NM_024733		8	934	0	0	0	1.12685e-05	0	8	934				
UBE4A	9354	broad.mit.edu	37	11	118250189	118250189	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr11:118250189C>A	ENST00000431736.2	+	11	1693	c.1621C>A	c.(1621-1623)Caa>Aaa	p.Q541K	UBE4A_ENST00000252108.3_Missense_Mutation_p.Q534K|UBE4A_ENST00000545354.1_Missense_Mutation_p.Q6K					ubiquitination factor E4A											autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		AAAAATCAACCAAAATCTGCA	0.463																																						ENST00000252108.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56						c.(1600-1602)Caa>Aaa		ubiquitination factor E4A							86.0	89.0	88.0					11																	118250189		2200	4296	6496	SO:0001583	missense	9354				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding	g.chr11:118250189C>A	D50916	CCDS8396.1, CCDS55790.1	11q23.3	2013-01-28	2011-05-19					"""U-box domain containing"""	12499	protein-coding gene	gene with protein product		603753	"""ubiquitination factor E4A (homologous to yeast UFD2)"", ""ubiquitination factor E4A (UFD2 homolog, yeast)"""			10089879	Standard	NM_004788		Approved	UBOX2, UFD2, KIAA0126, E4	uc001psv.3	Q14139	OTTHUMG00000168100	ENST00000431736.2:c.1621C>A	11.37:g.118250189C>A	ENSP00000387362:p.Gln541Lys					UBE4A_ENST00000431736.2_Missense_Mutation_p.Q541K|UBE4A_ENST00000545354.1_Missense_Mutation_p.Q6K	p.Q534K	NM_001204077.1|NM_004788.3	NP_001191006.1|NP_004779.2	Q14139	UBE4A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)	11	1731	+	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	534						Missense_Mutation	SNP	ENST00000431736.2	37	c.1600C>A	CCDS8396.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.571993	0.86542	.	.	ENSG00000110344	ENST00000252108;ENST00000431736;ENST00000545354	T;T;T	0.42513	0.97;0.97;0.97	5.53	5.53	0.82687	Ubiquitin conjugation factor E4, core (1);	0.000000	0.85682	D	0.000000	T	0.50222	0.1603	M	0.71036	2.16	0.80722	D	1	P;P	0.42941	0.681;0.794	B;B	0.43950	0.437;0.31	T	0.44221	-0.9342	10	0.23891	T	0.37	-9.2888	19.4627	0.94924	0.0:1.0:0.0:0.0	.	534;541	Q14139;Q14139-2	UBE4A_HUMAN;.	K	534;541;6	ENSP00000252108:Q534K;ENSP00000387362:Q541K;ENSP00000438918:Q6K	ENSP00000252108:Q534K	Q	+	1	0	UBE4A	117755399	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.588000	0.87417	0.655000	0.94253	CAA		0.463	UBE4A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398143.1	NM_004788		10	488	1	0	6.40141e-05	6.40141e-05	0.00606515	10	488				
NBN	4683	broad.mit.edu	37	8	90965576	90965576	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr8:90965576G>T	ENST00000265433.3	-	11	1895	c.1741C>A	c.(1741-1743)Caa>Aaa	p.Q581K	NBN_ENST00000409330.1_Missense_Mutation_p.Q499K	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	581					blastocyst growth (GO:0001832)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|DNA damage checkpoint (GO:0000077)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intrinsic apoptotic signaling pathway (GO:0097193)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G2 DNA damage checkpoint (GO:0007095)|neuromuscular process controlling balance (GO:0050885)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|telomere maintenance (GO:0000723)	Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nuclear inclusion body (GO:0042405)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|replication fork (GO:0005657)|site of double-strand break (GO:0035861)	damaged DNA binding (GO:0003684)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TCCTGTTTTTGAACTTTCACA	0.348								Homologous recombination																														ENST00000265433.3																			0				autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						c.(1741-1743)Caa>Aaa	Homologous recombination	nibrin							315.0	311.0	312.0					8																	90965576		2203	4299	6502	SO:0001583	missense	4683				cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding	g.chr8:90965576G>T	AF058696	CCDS6249.1	8q21-q24	2014-09-17	2005-06-02	2005-06-02	ENSG00000104320	ENSG00000104320			7652	protein-coding gene	gene with protein product		602667	"""Nijmegen breakage syndrome 1 (nibrin)"""	NBS, NBS1		9590181, 9590180	Standard	XM_005250923		Approved	ATV, AT-V2, AT-V1	uc003yej.1	O60934	OTTHUMG00000153546	ENST00000265433.3:c.1741C>A	8.37:g.90965576G>T	ENSP00000265433:p.Gln581Lys					NBN_ENST00000409330.1_Missense_Mutation_p.Q499K	p.Q581K	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0344)		11	1895	-			581					B2R626|B2RNC5|O60672|Q32NF7|Q53FM6|Q63HR6|Q7LDM2	Missense_Mutation	SNP	ENST00000265433.3	37	c.1741C>A	CCDS6249.1	.	.	.	.	.	.	.	.	.	.	G	7.975	0.749994	0.15778	.	.	ENSG00000104320	ENST00000265433;ENST00000409330	T;T	0.58060	1.99;0.36	5.29	0.895	0.19247	.	1.667470	0.02817	N	0.125095	T	0.38026	0.1025	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.17349	-1.0372	10	0.12766	T	0.61	-0.018	9.8904	0.41288	0.0:0.5366:0.322:0.1413	.	581;581	A6H8Y5;O60934	.;NBN_HUMAN	K	581;499	ENSP00000265433:Q581K;ENSP00000386924:Q499K	ENSP00000265433:Q581K	Q	-	1	0	NBN	91034752	0.001000	0.12720	0.261000	0.24466	0.911000	0.54048	0.129000	0.15830	0.139000	0.18822	0.650000	0.86243	CAA		0.348	NBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331583.3	NM_001024688		16	830	1	0	1.33834e-09	9.7654e-05	2.98977e-07	16	830				
FLG2	388698	broad.mit.edu	37	1	152324334	152324334	+	Silent	SNP	G	G	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr1:152324334G>A	ENST00000388718.5	-	3	6000	c.5928C>T	c.(5926-5928)caC>caT	p.H1976H	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1976					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGCTTGACCGTGAGTGTGTC	0.527																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(5926-5928)caC>caT		filaggrin family member 2							371.0	343.0	352.0					1																	152324334		2203	4300	6503	SO:0001819	synonymous_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152324334G>A	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.5928C>T	1.37:g.152324334G>A						FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.H1976H	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6000	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1976					Q9H4U1	Silent	SNP	ENST00000388718.5	37	c.5928C>T	CCDS30861.1																																																																																				0.527	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		9	1340	0	0	0	2.56e-06	0	9	1340				
PAM	5066	broad.mit.edu	37	5	102284122	102284122	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr5:102284122G>T	ENST00000438793.3	+	8	1086	c.616G>T	c.(616-618)Gac>Tac	p.D206Y	PAM_ENST00000304400.7_Missense_Mutation_p.D206Y|PAM_ENST00000379787.4_5'UTR|PAM_ENST00000274392.9_Missense_Mutation_p.D109Y|PAM_ENST00000455264.2_Missense_Mutation_p.D206Y|PAM_ENST00000348126.2_Missense_Mutation_p.D206Y|PAM_ENST00000346918.2_Missense_Mutation_p.D206Y	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	206	Peptidylglycine alpha-hydroxylating monooxygenase. {ECO:0000250}.				central nervous system development (GO:0007417)|heart development (GO:0007507)|lactation (GO:0007595)|limb development (GO:0060173)|long-chain fatty acid metabolic process (GO:0001676)|maternal process involved in female pregnancy (GO:0060135)|odontogenesis (GO:0042476)|ovulation cycle process (GO:0022602)|peptide amidation (GO:0001519)|protein amidation (GO:0018032)|protein homooligomerization (GO:0051260)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of protein secretion (GO:0050708)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to pH (GO:0009268)|toxin metabolic process (GO:0009404)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)|trans-Golgi network (GO:0005802)	calcium ion binding (GO:0005509)|copper ion binding (GO:0005507)|L-ascorbic acid binding (GO:0031418)|peptidylamidoglycolate lyase activity (GO:0004598)|peptidylglycine monooxygenase activity (GO:0004504)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	GATGTCTGTTGACACTGTTAT	0.313																																						ENST00000438793.3																			0				endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25						c.(616-618)Gac>Tac		peptidylglycine alpha-amidating monooxygenase	Vitamin C(DB00126)						125.0	125.0	125.0					5																	102284122		2203	4298	6501	SO:0001583	missense	5066				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding	g.chr5:102284122G>T	AB095007	CCDS4092.1, CCDS4093.1, CCDS4094.1, CCDS43348.1, CCDS54885.1	5q	2008-02-05			ENSG00000145730	ENSG00000145730	1.14.17.3		8596	protein-coding gene	gene with protein product	"""peptidyl-alpha-hydroxyglycine alpha-amidating lyase"", ""peptidylglycine alpha-hydroxylating monooxygenase"""	170270				2357221	Standard	NM_000919		Approved	PAL, PHM	uc003knt.3	P19021	OTTHUMG00000128729	ENST00000438793.3:c.616G>T	5.37:g.102284122G>T	ENSP00000396493:p.Asp206Tyr					PAM_ENST00000455264.2_Missense_Mutation_p.D206Y|PAM_ENST00000348126.2_Missense_Mutation_p.D206Y|PAM_ENST00000346918.2_Missense_Mutation_p.D206Y|PAM_ENST00000304400.7_Missense_Mutation_p.D206Y|PAM_ENST00000274392.9_Missense_Mutation_p.D109Y|PAM_ENST00000379787.4_5'UTR	p.D206Y	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	8	1086	+		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)	206			Peptidylglycine alpha-hydroxylating monooxygenase (By similarity).		A6NMR0|A8K293|O43211|O95080|Q16252|Q16253|Q54A45|Q86U53|Q8WVC7|Q9UCG0	Missense_Mutation	SNP	ENST00000438793.3	37	c.616G>T	CCDS54885.1	.	.	.	.	.	.	.	.	.	.	G	12.01	1.808418	0.31961	.	.	ENSG00000145730	ENST00000438793;ENST00000346918;ENST00000348126;ENST00000304400;ENST00000274392;ENST00000455264	T;T;T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98;-0.98;-0.98	5.75	4.87	0.63330	PHM/PNGase F domain (1);Copper type II, ascorbate-dependent monooxygenase-like, C-terminal (1);	0.137618	0.64402	D	0.000004	T	0.78438	0.4283	L	0.35487	1.065	0.80722	D	1	D;D;D;D;D;B	0.76494	0.997;0.998;0.997;0.999;0.999;0.288	D;D;D;D;D;B	0.70227	0.92;0.952;0.95;0.968;0.949;0.125	T	0.79926	-0.1597	10	0.62326	D	0.03	.	12.2954	0.54842	0.1427:0.0:0.8573:0.0	.	109;206;206;206;206;206	F8WE90;P19021;P19021-4;P19021-3;P19021-5;P19021-2	.;AMD_HUMAN;.;.;.;.	Y	206;206;206;206;109;206	ENSP00000396493:D206Y;ENSP00000282992:D206Y;ENSP00000314638:D206Y;ENSP00000306100:D206Y;ENSP00000274392:D109Y;ENSP00000403461:D206Y	ENSP00000274392:D109Y	D	+	1	0	PAM	102312021	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	3.600000	0.54052	1.406000	0.46857	0.563000	0.77884	GAC		0.313	PAM-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250640.2	NM_000919		12	922	1	0	3.45872e-05	3.45872e-05	0.00404903	12	922				
PPP1R2	5504	broad.mit.edu	37	3	195245823	195245823	+	Nonsense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr3:195245823G>T	ENST00000328432.3	-	5	923	c.563C>A	c.(562-564)tCa>tAa	p.S188*		NM_006241.4	NP_006232.1	P41236	IPP2_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 2	188					generation of precursor metabolites and energy (GO:0006091)|glycogen metabolic process (GO:0005977)|negative regulation of catalytic activity (GO:0043086)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of signal transduction (GO:0009966)		protein serine/threonine phosphatase inhibitor activity (GO:0004865)			endometrium(2)|kidney(1)|large_intestine(1)|urinary_tract(2)	6	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)		Epithelial(36;2.64e-22)|all cancers(36;2.69e-20)|OV - Ovarian serous cystadenocarcinoma(49;3.52e-19)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;9.55e-05)		ACCTTGATTTGATTCTTCCGT	0.338																																						ENST00000328432.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|urinary_tract(2)	6						c.(562-564)tCa>tAa		protein phosphatase 1, regulatory (inhibitor) subunit 2							232.0	232.0	232.0					3																	195245823		2203	4300	6503	SO:0001587	stop_gained	5504				glycogen metabolic process|regulation of phosphoprotein phosphatase activity|regulation of signal transduction		protein binding|protein serine/threonine phosphatase inhibitor activity	g.chr3:195245823G>T	U68111	CCDS3309.1	3q29	2012-04-17			ENSG00000184203	ENSG00000184203	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9288	protein-coding gene	gene with protein product		601792				9126490, 8119416	Standard	XM_006713682		Approved	IPP2	uc003fup.3	P41236	OTTHUMG00000155887	ENST00000328432.3:c.563C>A	3.37:g.195245823G>T	ENSP00000328178:p.Ser188*						p.S188*	NM_006241.4	NP_006232.1	P41236	IPP2_HUMAN	Epithelial(36;2.64e-22)|all cancers(36;2.69e-20)|OV - Ovarian serous cystadenocarcinoma(49;3.52e-19)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;9.55e-05)	5	923	-	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)		188						Nonsense_Mutation	SNP	ENST00000328432.3	37	c.563C>A	CCDS3309.1	.	.	.	.	.	.	.	.	.	.	G	37	6.356746	0.97502	.	.	ENSG00000184203	ENST00000328432;ENST00000438848	.	.	.	4.93	4.93	0.64822	.	0.303685	0.31415	N	0.007686	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.375	0.66867	0.0:0.0:1.0:0.0	.	.	.	.	X	188;162	.	ENSP00000328178:S188X	S	-	2	0	PPP1R2	196727112	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	2.090000	0.41682	2.663000	0.90544	0.467000	0.42956	TCA		0.338	PPP1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342133.1	NM_006241		13	550	1	0	2.31682e-05	2.31682e-05	0.00284922	13	550				
EXOSC10	5394	broad.mit.edu	37	1	11129707	11129707	+	Silent	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr1:11129707G>T	ENST00000376936.4	-	22	2446	c.2397C>A	c.(2395-2397)ctC>ctA	p.L799L	EXOSC10_ENST00000544779.1_3'UTR|RP4-635E18.7_ENST00000452378.1_RNA|EXOSC10_ENST00000304457.7_Silent_p.L774L	NM_001001998.1	NP_001001998.1	Q01780	EXOSX_HUMAN	exosome component 10	799					CUT catabolic process (GO:0071034)|dosage compensation by inactivation of X chromosome (GO:0009048)|histone mRNA catabolic process (GO:0071044)|maturation of 5.8S rRNA (GO:0000460)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear retention of unspliced pre-mRNA at the site of transcription (GO:0071048)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5' exonuclease activity (GO:0008408)|exoribonuclease activity (GO:0004532)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		TGGAAATTTTGAGTCGTTTCT	0.468																																					Colon(179;105 1987 14326 27364 29542)	ENST00000376936.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27						c.(2395-2397)ctC>ctA		exosome component 10							426.0	443.0	437.0					1																	11129707		2203	4300	6503	SO:0001819	synonymous_variant	5394				CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding	g.chr1:11129707G>T	BC073788	CCDS126.1, CCDS30584.1	1p36.22	2008-02-05	2004-06-16	2004-06-18	ENSG00000171824	ENSG00000171824			9138	protein-coding gene	gene with protein product	"""polymyositis/scleroderma autoantigen 2 (100kD)"""	605960	"""polymyositis/scleroderma autoantigen 2, 100kDa"""	PMSCL2		1383382, 1644924	Standard	NM_001001998		Approved	PM-Scl, PM/Scl-100, Rrp6p, RRP6, p2, p3, p4	uc001asa.3	Q01780	OTTHUMG00000002123	ENST00000376936.4:c.2397C>A	1.37:g.11129707G>T						RP4-635E18.7_ENST00000452378.1_RNA|EXOSC10_ENST00000544779.1_3'UTR|EXOSC10_ENST00000304457.7_Silent_p.L774L	p.L799L	NM_001001998.1	NP_001001998.1	Q01780	EXOSX_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)	22	2446	-	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	799					B1AKQ0|B1AKQ1|Q15158	Silent	SNP	ENST00000376936.4	37	c.2397C>A	CCDS30584.1																																																																																				0.468	EXOSC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006078.1	NM_001001998		18	2210	1	0	6.40141e-05	6.40141e-05	0.00606515	18	2210				
RP11-156P1.3	0	broad.mit.edu	37	17	45128812	45128812	+	RNA	SNP	C	C	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr17:45128812C>T	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							AGTCCTGTTTCTGTGTGGATT	0.373																																						ENST00000575173.1																			0																																																			0							g.chr17:45128812C>T																													17.37:g.45128812C>T														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.373	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			4	191	0	0	0	1.23904e-05	0	4	191				
MSH6	2956	broad.mit.edu	37	2	48032777	48032777	+	Nonsense_Mutation	SNP	G	G	T	rs63751328		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr2:48032777G>T	ENST00000234420.5	+	7	3729	c.3577G>T	c.(3577-3579)Gaa>Taa	p.E1193*	MSH6_ENST00000540021.1_Nonsense_Mutation_p.E1063*|MSH6_ENST00000538136.1_Nonsense_Mutation_p.E891*|FBXO11_ENST00000405808.1_Intron	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	1193			E -> K (found in an endometrial cancer sample; displays marked impairment of heterodimerization with MSH2 and of in vitro mismatch repair capacity). {ECO:0000269|PubMed:15354210}.		ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ATTTTTTGTTGAATTAAGTGA	0.303			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000234420.4			yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	"""Mis, N, F, S"""	mutS homolog 6 (E. coli)			E		"""colorectal, endometrial, ovarian"""	colorectal		2	Whole gene deletion(2)	p.0?(2)	haematopoietic_and_lymphoid_tissue(2)	breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229	GRCh37	CM042751	MSH6	M	rs63751328	c.(3577-3579)Gaa>Taa	Mismatch excision repair (MMR)	mutS homolog 6							76.0	79.0	78.0					2																	48032777		2203	4300	6503	SO:0001587	stop_gained	2956	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	g.chr2:48032777G>T	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"""mutS (E. coli) homolog 6"", ""mutS homolog 6 (E. coli)"""	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.3577G>T	2.37:g.48032777G>T	ENSP00000234420:p.Glu1193*					MSH6_ENST00000540021.1_Nonsense_Mutation_p.E1063*|MSH6_ENST00000538136.1_Nonsense_Mutation_p.E891*|FBXO11_ENST00000405808.1_Intron	p.E1193*	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		7	3729	+		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	1193		E -> K (found in an endometrial cancer sample; displays marked impairment of heterodimerization with MSH2 and of in vitro mismatch repair capacity).			B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Nonsense_Mutation	SNP	ENST00000234420.5	37	c.3577G>T	CCDS1836.1	.	.	.	.	.	.	.	.	.	.	G	47	13.487868	0.99745	.	.	ENSG00000116062	ENST00000234420;ENST00000543270;ENST00000540021;ENST00000538136	.	.	.	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-20.4028	18.6051	0.91263	0.0:0.0:1.0:0.0	.	.	.	.	X	1193;159;1063;891	.	ENSP00000234420:E1193X	E	+	1	0	MSH6	47886281	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.477000	0.97925	2.622000	0.88805	0.462000	0.41574	GAA		0.303	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	NM_000179		14	708	1	0	7.07596e-05	7.07596e-05	0.00665249	14	708				
NGLY1	55768	broad.mit.edu	37	3	25770651	25770651	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr3:25770651G>T	ENST00000280700.5	-	10	1744	c.1584C>A	c.(1582-1584)ttC>ttA	p.F528L	NGLY1_ENST00000467224.1_5'UTR|NGLY1_ENST00000396649.3_Missense_Mutation_p.F528L|NGLY1_ENST00000417874.2_Missense_Mutation_p.F486L|NGLY1_ENST00000428257.1_Missense_Mutation_p.F510L|NGLY1_ENST00000422724.2_3'UTR	NM_018297.3	NP_060767.2	Q96IV0	NGLY1_HUMAN	N-glycanase 1	528	PAW. {ECO:0000255|PROSITE- ProRule:PRU00731}.				glycoprotein catabolic process (GO:0006516)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity (GO:0000224)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						CAACTTTTCTGAATATAGATT	0.313																																						ENST00000428257.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						c.(1528-1530)ttC>ttA		N-glycanase 1							128.0	119.0	122.0					3																	25770651		2202	4299	6501	SO:0001583	missense	55768				glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding	g.chr3:25770651G>T	AF250924	CCDS33719.1, CCDS46777.1, CCDS46778.1, CCDS46779.1	3p23	2006-08-30			ENSG00000151092	ENSG00000151092			17646	protein-coding gene	gene with protein product		610661					Standard	NM_018297		Approved	FLJ11005, PNG1	uc003cdl.3	Q96IV0	OTTHUMG00000155600	ENST00000280700.5:c.1584C>A	3.37:g.25770651G>T	ENSP00000280700:p.Phe528Leu					NGLY1_ENST00000396649.3_Missense_Mutation_p.F528L|NGLY1_ENST00000422724.2_3'UTR|NGLY1_ENST00000417874.2_Missense_Mutation_p.F486L|NGLY1_ENST00000280700.5_Missense_Mutation_p.F528L|NGLY1_ENST00000467224.1_5'UTR	p.F510L	NM_001145293.1	NP_001138765.1	Q96IV0	NGLY1_HUMAN			10	1637	-			528			PAW.		B4DJE9|Q59FB1|Q6PJD8|Q9BVR8|Q9NR70	Missense_Mutation	SNP	ENST00000280700.5	37	c.1530C>A	CCDS33719.1	.	.	.	.	.	.	.	.	.	.	G	19.60	3.857742	0.71834	.	.	ENSG00000151092	ENST00000428257;ENST00000280700;ENST00000396649;ENST00000308710;ENST00000417874	D;D;D;D	0.95918	-3.85;-3.85;-3.85;-3.85	5.82	4.0	0.46444	Peptide N glycanase, PAW domain (3);Galactose-binding domain-like (1);	0.199148	0.53938	D	0.000042	D	0.96706	0.8925	M	0.82193	2.58	0.80722	D	1	D;D;P;D	0.69078	0.997;0.966;0.937;0.993	P;P;P;P	0.61397	0.888;0.466;0.814;0.618	D	0.96101	0.9069	10	0.59425	D	0.04	-7.2391	7.6939	0.28583	0.1442:0.3228:0.533:0.0	.	486;510;528;528	B4DJE9;Q96IV0-2;Q96IV0-3;Q96IV0	.;.;.;NGLY1_HUMAN	L	510;528;528;507;486	ENSP00000387430:F510L;ENSP00000280700:F528L;ENSP00000307980:F507L;ENSP00000389888:F486L	ENSP00000280700:F528L	F	-	3	2	NGLY1	25745655	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.762000	0.47597	1.439000	0.47511	0.561000	0.74099	TTC		0.313	NGLY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340832.2			20	682	1	0	0.000117367	0.000117367	0.00995779	20	682				
ST6GAL1	6480	broad.mit.edu	37	3	186791961	186791961	+	Silent	SNP	G	G	T	rs369650964		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr3:186791961G>T	ENST00000169298.3	+	7	1493	c.819G>T	c.(817-819)ccG>ccT	p.P273P	ST6GAL1_ENST00000457772.2_Silent_p.P42P|ST6GAL1_ENST00000448044.1_Silent_p.P273P	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1	273					cellular protein metabolic process (GO:0044267)|humoral immune response (GO:0006959)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)|sialyltransferase activity (GO:0008373)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		ACCAGAATCCGGATTATAATT	0.483																																						ENST00000169298.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7						c.(817-819)ccG>ccT		ST6 beta-galactosamide alpha-2,6-sialyltranferase 1							95.0	100.0	98.0					3																	186791961		2203	4300	6503	SO:0001819	synonymous_variant	6480				humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	g.chr3:186791961G>T	X62822	CCDS3285.1, CCDS46973.1	3q27-q28	2013-02-26	2003-01-14	2005-02-07	ENSG00000073849	ENSG00000073849	2.4.99.1		10860	protein-coding gene	gene with protein product	"""ST6Gal I"""	109675	"""sialyltransferase 1 (beta-galactoside alpha-2,6-sialytransferase)"""	SIAT1		2408023	Standard	NM_003032		Approved		uc003frd.3	P15907	OTTHUMG00000156500	ENST00000169298.3:c.819G>T	3.37:g.186791961G>T						ST6GAL1_ENST00000457772.2_Silent_p.P42P|ST6GAL1_ENST00000448044.1_Silent_p.P273P	p.P273P	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)	7	1493	+	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		273					A8KA14|B2R513|D3DNV3	Silent	SNP	ENST00000169298.3	37	c.819G>T	CCDS3285.1																																																																																				0.483	ST6GAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344399.1	NM_173216		9	648	1	0	3.07112e-06	6.40141e-05	0.000526632	9	648				
DARS	1615	broad.mit.edu	37	2	136673918	136673918	+	Silent	SNP	C	C	A	rs375578989		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr2:136673918C>A	ENST00000264161.4	-	11	1199	c.984G>T	c.(982-984)gtG>gtT	p.V328V	DARS_ENST00000537273.1_Silent_p.V228V	NM_001349.2	NP_001340.2	P14868	SYDC_HUMAN	aspartyl-tRNA synthetase	328					aspartyl-tRNA aminoacylation (GO:0006422)|gene expression (GO:0010467)|protein complex assembly (GO:0006461)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacylase activity (GO:0004046)|aspartate-tRNA ligase activity (GO:0004815)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15				BRCA - Breast invasive adenocarcinoma(221;0.168)	L-Aspartic Acid(DB00128)	ACTGTTTATTCACTGTTTGAA	0.368																																						ENST00000264161.4																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15						c.(982-984)gtG>gtT		aspartyl-tRNA synthetase	L-Aspartic Acid(DB00128)						127.0	125.0	126.0					2																	136673918		2203	4300	6503	SO:0001819	synonymous_variant	1615				aspartyl-tRNA aminoacylation|protein complex assembly	cytosol|nuclear membrane|plasma membrane|soluble fraction	aminoacylase activity|aspartate-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding	g.chr2:136673918C>A	J05032	CCDS2180.1	2q21.3	2011-07-01			ENSG00000115866	ENSG00000115866	6.1.1.12	"""Aminoacyl tRNA synthetases / Class II"""	2678	protein-coding gene	gene with protein product	"""aspartate tRNA ligase 1, cytoplasmic"""	603084				2674137	Standard	NM_001349		Approved		uc002tux.1	P14868	OTTHUMG00000131741	ENST00000264161.4:c.984G>T	2.37:g.136673918C>A						DARS_ENST00000537273.1_Silent_p.V228V	p.V328V	NM_001349.2	NP_001340.2	P14868	SYDC_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.168)	11	1199	-			328					A8K3J2|D3DP77|Q2TNI3|Q32Q69|Q53HV4|Q53YC5|Q68CR9|Q9BW52	Silent	SNP	ENST00000264161.4	37	c.984G>T	CCDS2180.1																																																																																				0.368	DARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254660.5	NM_001349		11	766	1	0	6.40141e-05	6.40141e-05	0.00606515	11	766				
COX7A2	1347	broad.mit.edu	37	6	75950955	75950955	+	Silent	SNP	C	C	A	rs139079443	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr6:75950955C>A	ENST00000230459.4	-	2	238	c.45G>T	c.(43-45)acG>acT	p.T15T	COX7A2_ENST00000370089.2_Silent_p.T47T|COX7A2_ENST00000370081.2_Silent_p.T47T|COX7A2_ENST00000460985.1_Intron|COX7A2_ENST00000472311.2_Silent_p.T15T|COX7A2_ENST00000509698.1_Silent_p.T15T	NM_001865.3	NP_001856.2	P14406	CX7A2_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 2 (liver)	15						extracellular vesicular exosome (GO:0070062)|mitochondrial respiratory chain (GO:0005746)	cytochrome-c oxidase activity (GO:0004129)	p.T15T(1)		kidney(2)|lung(1)	3						CAGTGCTTATCGTCCTCTGCC	0.358																																						ENST00000370081.2																			1	Substitution - coding silent(1)	p.T15T(1)	lung(1)	kidney(2)|lung(1)	3						c.(139-141)acG>acT		cytochrome c oxidase subunit VIIa polypeptide 2 (liver)							89.0	101.0	97.0					6																	75950955		2203	4300	6503	SO:0001819	synonymous_variant	1347					mitochondrial respiratory chain	cytochrome-c oxidase activity|electron carrier activity	g.chr6:75950955C>A	X15822	CCDS34486.1, CCDS34486.2	6q14.1	2011-07-04			ENSG00000112695	ENSG00000112695	1.9.3.1	"""Mitochondrial respiratory chain complex / Complex IV"""	2288	protein-coding gene	gene with protein product		123996				1327965, 9202412	Standard	NM_001865		Approved	COXVIIa-L, COX7AL	uc003phv.2	P14406	OTTHUMG00000015049	ENST00000230459.4:c.45G>T	6.37:g.75950955C>A						COX7A2_ENST00000370089.2_Silent_p.T47T|COX7A2_ENST00000230459.4_Silent_p.T15T|COX7A2_ENST00000509698.1_Silent_p.T15T|COX7A2_ENST00000460985.1_Intron|COX7A2_ENST00000472311.2_Silent_p.T15T	p.T47T			P14406	CX7A2_HUMAN			3	451	-			15					B2R5E1|Q3MIH5|Q5TF59|Q6FGI2	Silent	SNP	ENST00000230459.4	37	c.141G>T																																																																																					0.358	COX7A2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001865		11	846	1	0	1.58986e-06	3.86212e-05	0.000286764	11	846				
CRELD1	78987	broad.mit.edu	37	3	9982708	9982708	+	Missense_Mutation	SNP	C	C	G	rs138336691	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr3:9982708C>G	ENST00000383811.3	+	5	1234	c.635C>G	c.(634-636)tCg>tGg	p.S212W	CRELD1_ENST00000397170.3_Missense_Mutation_p.S212W|CRELD1_ENST00000326434.5_Missense_Mutation_p.S212W|CRELD1_ENST00000452070.1_Missense_Mutation_p.S212W	NM_015513.4	NP_056328	Q96HD1	CREL1_HUMAN	cysteine-rich with EGF-like domains 1	212					cardiac septum development (GO:0003279)|endocardial cushion development (GO:0003197)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						CTGGTATGTTCGGGTAGGTAG	0.632																																						ENST00000383811.3																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						c.(634-636)tCg>tGg		cysteine-rich with EGF-like domains 1							74.0	73.0	73.0					3																	9982708		2203	4300	6503	SO:0001583	missense	78987				cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding	g.chr3:9982708C>G	AF452623	CCDS2593.1, CCDS33693.1	3p25.3	2005-12-08	2004-02-13		ENSG00000163703	ENSG00000163703			14630	protein-coding gene	gene with protein product		607170	"""atrioventricular septal defect 2"""	AVSD2		10922384, 12137942	Standard	NM_015513		Approved		uc003buf.3	Q96HD1	OTTHUMG00000128653	ENST00000383811.3:c.635C>G	3.37:g.9982708C>G	ENSP00000373322:p.Ser212Trp					CRELD1_ENST00000397170.3_Missense_Mutation_p.S212W|CRELD1_ENST00000326434.5_Missense_Mutation_p.S212W|CRELD1_ENST00000452070.1_Missense_Mutation_p.S212W	p.S212W	NM_015513.4	NP_056328.2	Q96HD1	CREL1_HUMAN			5	1234	+			212					A8MX90|B2RAA9|Q6I9X5|Q8NFT4|Q9Y409	Missense_Mutation	SNP	ENST00000383811.3	37	c.635C>G	CCDS2593.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.448710	0.63178	.	.	ENSG00000163703	ENST00000397170;ENST00000383811;ENST00000452070;ENST00000326434	D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.3	5.33	3.34	0.38264	EGF-like, laminin (1);Growth factor, receptor (1);	0.236302	0.35436	N	0.003208	D	0.88451	0.6440	L	0.49571	1.57	0.58432	D	0.999999	D;D	0.69078	0.979;0.997	B;P	0.60682	0.435;0.878	D	0.86591	0.1860	9	.	.	.	.	9.4454	0.38695	0.1529:0.7599:0.0:0.0871	.	212;212	Q96HD1;Q96HD1-2	CREL1_HUMAN;.	W	212	ENSP00000380355:S212W;ENSP00000373322:S212W;ENSP00000393643:S212W;ENSP00000321856:S212W	.	S	+	2	0	CRELD1	9957708	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.517000	0.53443	1.252000	0.44001	0.561000	0.74099	TCG		0.632	CRELD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250533.1	NM_015513		5	346	0	0	0	1.23904e-05	0	5	346				
POLR2A	5430	broad.mit.edu	37	17	7405902	7405902	+	Missense_Mutation	SNP	C	C	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr17:7405902C>T	ENST00000322644.6	+	16	3037	c.2638C>T	c.(2638-2640)Cgg>Tgg	p.R880W		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	880					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CGCGACTGTGCGGAACTCCAT	0.567																																						ENST00000322644.6																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50						c.(2638-2640)Cgg>Tgg		polymerase (RNA) II (DNA directed) polypeptide A, 220kDa							102.0	89.0	93.0					17																	7405902		2203	4300	6503	SO:0001583	missense	5430				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	g.chr17:7405902C>T			17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"""RNA polymerase subunits"""	9187	protein-coding gene	gene with protein product	"""DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit"", ""RNA polymerase II subunit B1"""	180660	"""polymerase (RNA) II (DNA directed) polypeptide A (220kD)"""	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.2638C>T	17.37:g.7405902C>T	ENSP00000314949:p.Arg880Trp						p.R880W	NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN			16	3037	+		Prostate(122;0.173)	880					A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	ENST00000322644.6	37	c.2638C>T	CCDS32548.1	.	.	.	.	.	.	.	.	.	.	C	16.86	3.240160	0.58995	.	.	ENSG00000181222	ENST00000535204;ENST00000322644	T	0.74209	-0.82	5.82	0.84	0.18912	RNA polymerase Rpb1, domain 5 (1);	0.000000	0.85682	D	0.000000	D	0.91633	0.7356	H	0.99261	4.49	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94164	0.7417	10	0.87932	D	0	-8.9938	16.4899	0.84198	0.586:0.414:0.0:0.0	.	880	P24928	RPB1_HUMAN	W	836;880	ENSP00000314949:R880W	ENSP00000314949:R880W	R	+	1	2	SLC35G6	7346626	0.997000	0.39634	0.583000	0.28640	0.434000	0.31775	0.766000	0.26560	-0.013000	0.14199	-0.808000	0.03180	CGG		0.567	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		6	366	0	0	0	3.59834e-05	0	6	366				
ZNF287	57336	broad.mit.edu	37	17	16456304	16456304	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr17:16456304C>A	ENST00000395824.1	-	6	1769	c.1152G>T	c.(1150-1152)ctG>ctT	p.L384L	ZNF287_ENST00000395825.3_Silent_p.L384L			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	377					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		TTTGGTGTTTCAGGAGGGATG	0.393																																						ENST00000395824.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20						c.(1150-1152)ctG>ctT		zinc finger protein 287							158.0	148.0	151.0					17																	16456304		2203	4300	6503	SO:0001819	synonymous_variant	57336				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:16456304C>A	AF217227	CCDS11179.2	17p11.2	2013-01-09			ENSG00000141040	ENSG00000141040		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13502	protein-coding gene	gene with protein product							Standard	NM_020653		Approved	ZKSCAN13, ZSCAN45	uc002gqi.2	Q9HBT7	OTTHUMG00000058993	ENST00000395824.1:c.1152G>T	17.37:g.16456304C>A						ZNF287_ENST00000395825.3_Silent_p.L384L	p.L384L			Q9HBT7	ZN287_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.083)	6	1769	-			377					Q6IAG1	Silent	SNP	ENST00000395824.1	37	c.1152G>T	CCDS11179.2																																																																																				0.393	ZNF287-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130504.1			10	726	1	0	6.40141e-05	6.40141e-05	0.00606515	10	726				
LRRC37A4P	55073	broad.mit.edu	37	17	43587497	43587497	+	RNA	SNP	T	T	G			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr17:43587497T>G	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		ttgaacctggtaagtggaggt	0.483																																						ENST00000253803.2																			0																																																			0							g.chr17:43587497T>G	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587497T>G						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.483	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		5	81	0	0	0	3.59834e-05	0	5	81				
KRTAP5-7	440050	broad.mit.edu	37	11	71238436	71238436	+	Silent	SNP	A	A	C	rs572895813		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr11:71238436A>C	ENST00000398536.4	+	1	124	c.90A>C	c.(88-90)ggA>ggC	p.G30G		NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN	keratin associated protein 5-7	30						keratin filament (GO:0045095)		p.G30G(1)		breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						GCTGTGGGGGATGTGGCTCCA	0.677													a|||	1	0.000199681	0.0	0.0	5008	,	,		10691	0.0		0.0	False		,,,				2504	0.001					ENST00000398536.4																			1	Substitution - coding silent(1)	p.G30G(1)	kidney(1)	breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						c.(88-90)ggA>ggC		keratin associated protein 5-7							69.0	89.0	82.0					11																	71238436		2200	4291	6491	SO:0001819	synonymous_variant	440050					keratin filament		g.chr11:71238436A>C	AB126076	CCDS41682.1	11q13.4	2008-02-05			ENSG00000244411	ENSG00000244411		"""Keratin associated proteins"""	23602	protein-coding gene	gene with protein product						15144888	Standard	NM_001012503		Approved	KRTAP5.7, KRTAP5-3	uc001oqq.1	Q6L8G8	OTTHUMG00000057570	ENST00000398536.4:c.90A>C	11.37:g.71238436A>C							p.G30G	NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN			1	124	+			30					B2RNM3|Q701N5	Silent	SNP	ENST00000398536.4	37	c.90A>C	CCDS41682.1																																																																																				0.677	KRTAP5-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127953.1			8	936	0	0	0	0.00010058	0	8	936				
SLC9C1	285335	broad.mit.edu	37	3	111999618	111999618	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr3:111999618C>A	ENST00000305815.5	-	3	353	c.101G>T	c.(100-102)cGg>cTg	p.R34L	SLC9C1_ENST00000467397.1_5'UTR|SLC9C1_ENST00000487372.1_Missense_Mutation_p.R34L	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	34					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										TTCCAAGTGCCGGTTCAAAAA	0.323																																						ENST00000305815.5																			0											c.(100-102)cGg>cTg		solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1							60.0	63.0	62.0					3																	111999618		2203	4300	6503	SO:0001583	missense	285335				cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity	g.chr3:111999618C>A	AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"""Solute carriers"""	31401	protein-coding gene	gene with protein product	"""sperm-NHE"""	612738	"""solute carrier family 9, isoform 10"", ""solute carrier family 9, member 10"""	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.101G>T	3.37:g.111999618C>A	ENSP00000306627:p.Arg34Leu					SLC9C1_ENST00000487372.1_Missense_Mutation_p.R34L|SLC9C1_ENST00000467397.1_5'UTR	p.R34L	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN			3	353	-			34					Q6ZRP4|Q7RTP2	Missense_Mutation	SNP	ENST00000305815.5	37	c.101G>T	CCDS33817.1	.	.	.	.	.	.	.	.	.	.	C	1.595	-0.528154	0.04112	.	.	ENSG00000172139	ENST00000305815;ENST00000487372	T;T	0.78816	-1.21;-1.14	5.65	0.661	0.17874	Cation/H+ exchanger (1);	1.087840	0.07143	N	0.847775	T	0.45135	0.1327	N	0.02011	-0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.33752	-0.9856	10	0.11182	T	0.66	.	0.8922	0.01256	0.5032:0.1675:0.1715:0.1578	.	34;34	Q4G0N8-2;Q4G0N8	.;S9A10_HUMAN	L	34	ENSP00000306627:R34L;ENSP00000420688:R34L	ENSP00000306627:R34L	R	-	2	0	SLC9A10	113482308	0.213000	0.23551	0.447000	0.26932	0.947000	0.59692	0.504000	0.22626	0.094000	0.17404	-0.513000	0.04457	CGG		0.323	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1	NM_183061		9	525	1	0	6.40141e-05	6.40141e-05	0.00606515	9	525				
NAT8	9027	broad.mit.edu	37	2	73868603	73868603	+	Silent	SNP	G	G	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr2:73868603G>A	ENST00000272425.3	-	2	302	c.153C>T	c.(151-153)ctC>ctT	p.L51L		NM_003960.3|NM_016347.2	NP_003951.3|NP_057431.2			N-acetyltransferase 8 (GCN5-related, putative)									p.L51L(1)		breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1)	9						GGAGTAGGGCGAGGGGCCCCC	0.612																																						ENST00000272425.3																			1	Substitution - coding silent(1)	p.L51L(1)	kidney(1)	breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1)	9						c.(151-153)ctC>ctT		N-acetyltransferase 8 (GCN5-related, putative)							75.0	89.0	84.0					2																	73868603		2203	4300	6503	SO:0001819	synonymous_variant	9027				gastrulation with mouth forming second|response to drug	integral to membrane	N-acetyltransferase activity	g.chr2:73868603G>A	AB013094	CCDS1926.1	2p13.2	2012-03-20	2008-09-24		ENSG00000144035	ENSG00000144035			18069	protein-coding gene	gene with protein product		606716	"""N-acetyltransferase 8"""			11397015, 9852678, 19011241	Standard	NM_003960		Approved	Hcml1, TSC501, GLA, ATase2	uc002sji.1	Q9UHE5	OTTHUMG00000129818	ENST00000272425.3:c.153C>T	2.37:g.73868603G>A							p.L51L	NM_003960.3|NM_016347.2	NP_003951.3|NP_057431.2	Q9UHE5	NAT8_HUMAN			2	302	-			51						Silent	SNP	ENST00000272425.3	37	c.153C>T	CCDS1926.1																																																																																				0.612	NAT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327854.1	NM_003960		7	554	0	0	0	5.18039e-06	0	7	554				
EXPH5	23086	broad.mit.edu	37	11	108381503	108381503	+	Silent	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr11:108381503G>T	ENST00000265843.4	-	6	4841	c.4731C>A	c.(4729-4731)acC>acA	p.T1577T	EXPH5_ENST00000525344.1_Silent_p.T1570T|EXPH5_ENST00000428840.1_Silent_p.T1501T|EXPH5_ENST00000443411.1_Silent_p.T1389T|EXPH5_ENST00000524840.1_5'Flank	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1577					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CATCCAAGTTGGTTTTATTTT	0.418																																						ENST00000265843.4																			0				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91						c.(4729-4731)acC>acA		exophilin 5							165.0	154.0	158.0					11																	108381503		2201	4298	6499	SO:0001819	synonymous_variant	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108381503G>T		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.4731C>A	11.37:g.108381503G>T						EXPH5_ENST00000443411.1_Silent_p.T1389T|EXPH5_ENST00000428840.1_Silent_p.T1501T|EXPH5_ENST00000525344.1_Silent_p.T1570T	p.T1577T	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)	6	4841	-		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)	1577					Q2KHM1|Q9Y4D6	Silent	SNP	ENST00000265843.4	37	c.4731C>A	CCDS8341.1																																																																																				0.418	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		10	841	1	0	6.40141e-05	6.40141e-05	0.00606515	10	841				
FYCO1	79443	broad.mit.edu	37	3	46003868	46003868	+	Nonsense_Mutation	SNP	C	C	A	rs148106976		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr3:46003868C>A	ENST00000296137.2	-	11	3491	c.3286G>T	c.(3286-3288)Gaa>Taa	p.E1096*	FYCO1_ENST00000535325.1_Nonsense_Mutation_p.E1096*	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	1096					plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		GTGGCTTTTTCGAGTTCCTTC	0.483																																						ENST00000296137.2																			0				NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54						c.(3286-3288)Gaa>Taa		FYVE and coiled-coil domain containing 1							226.0	235.0	232.0					3																	46003868		2203	4300	6503	SO:0001587	stop_gained	79443				transport	integral to membrane	metal ion binding|protein binding	g.chr3:46003868C>A	AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"""Zinc fingers, FYVE domain containing"""	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.3286G>T	3.37:g.46003868C>A	ENSP00000296137:p.Glu1096*					FYCO1_ENST00000535325.1_Nonsense_Mutation_p.E1096*	p.E1096*	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)	11	3491	-			1096					B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Nonsense_Mutation	SNP	ENST00000296137.2	37	c.3286G>T	CCDS2734.1	.	.	.	.	.	.	.	.	.	.	C	42	9.285028	0.99125	.	.	ENSG00000163820	ENST00000296137;ENST00000535325	.	.	.	5.91	2.19	0.27852	.	0.730351	0.13906	N	0.354608	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	-5.7671	5.0616	0.14560	0.1344:0.5818:0.0:0.2838	.	.	.	.	X	1096	.	ENSP00000296137:E1096X	E	-	1	0	FYCO1	45978872	0.023000	0.18921	0.007000	0.13788	0.360000	0.29518	1.351000	0.34022	0.413000	0.25759	-0.137000	0.14449	GAA		0.483	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257320.2	NM_024513		12	1102	1	0	0.00010058	0.00010058	0.00856336	12	1102				
SLC39A10	57181	broad.mit.edu	37	2	196548428	196548428	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr2:196548428G>T	ENST00000409086.3	+	3	1289	c.1014G>T	c.(1012-1014)ttG>ttT	p.L338F	SLC39A10_ENST00000359634.5_Missense_Mutation_p.L338F|SLC39A10_ENST00000541054.1_5'UTR	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	338					transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			TGCAGTGTTTGAACGTCACTC	0.313																																						ENST00000409086.3																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34						c.(1012-1014)ttG>ttT		solute carrier family 39 (zinc transporter), member 10							118.0	111.0	113.0					2																	196548428		2203	4300	6503	SO:0001583	missense	57181				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr2:196548428G>T		CCDS33353.1	2q33.1	2013-05-22			ENSG00000196950	ENSG00000196950		"""Solute carriers"""	20861	protein-coding gene	gene with protein product		608733	"""solute carrier family 39 (metal ion transporter), member 10"""			12659941	Standard	NM_020342		Approved	KIAA1265, FLJ90515, DKFZp564L2123	uc002utg.4	Q9ULF5	OTTHUMG00000154380	ENST00000409086.3:c.1014G>T	2.37:g.196548428G>T	ENSP00000386766:p.Leu338Phe					SLC39A10_ENST00000541054.1_5'UTR|SLC39A10_ENST00000359634.5_Missense_Mutation_p.L338F	p.L338F	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.221)		3	1289	+			338					A8K5C6|B4DGU0|Q3MJA4|Q68CR5|Q6DKH6|Q9Y3Z1	Missense_Mutation	SNP	ENST00000409086.3	37	c.1014G>T	CCDS33353.1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.782450	0.49891	.	.	ENSG00000196950	ENST00000409086;ENST00000359634	T;T	0.69435	-0.4;-0.4	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.72407	0.3456	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.68401	-0.5418	10	0.06236	T	0.91	.	9.6188	0.39708	0.1242:0.0:0.8758:0.0	.	338	Q9ULF5	S39AA_HUMAN	F	338	ENSP00000386766:L338F;ENSP00000352655:L338F	ENSP00000352655:L338F	L	+	3	2	SLC39A10	196256673	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.893000	0.56243	2.656000	0.90262	0.650000	0.86243	TTG		0.313	SLC39A10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335186.1	XM_047707		10	550	1	0	1.58986e-06	3.86212e-05	0.000286764	10	550				
RALGPS2	55103	broad.mit.edu	37	1	178855151	178855151	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr1:178855151C>A	ENST00000367635.3	+	13	1426	c.1088C>A	c.(1087-1089)cCa>cAa	p.P363Q	RALGPS2_ENST00000367634.2_Missense_Mutation_p.P363Q|RALGPS2_ENST00000477383.1_3'UTR	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	363					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						GCAACGTTTCCAAATGCAGGA	0.358																																						ENST00000367635.3																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(1087-1089)cCa>cAa		Ral GEF with PH domain and SH3 binding motif 2							76.0	78.0	77.0					1																	178855151		2203	4300	6503	SO:0001583	missense	55103				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding	g.chr1:178855151C>A	AK098470	CCDS1325.1, CCDS65733.1	1q24	2013-01-11			ENSG00000116191	ENSG00000116191		"""Pleckstrin homology (PH) domain containing"""	30279	protein-coding gene	gene with protein product						10747847, 12102558	Standard	NM_152663		Approved	KIAA0351, FLJ10244, FLJ25604	uc001glz.3	Q86X27	OTTHUMG00000035076	ENST00000367635.3:c.1088C>A	1.37:g.178855151C>A	ENSP00000356607:p.Pro363Gln					RALGPS2_ENST00000477383.1_3'UTR|RALGPS2_ENST00000324778.4_Missense_Mutation_p.P328Q|RALGPS2_ENST00000367634.2_Missense_Mutation_p.P363Q	p.P363Q	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN			13	1426	+			363					B7Z7B1|Q5T5Z1|Q5VZ67|Q9NW78	Missense_Mutation	SNP	ENST00000367635.3	37	c.1088C>A	CCDS1325.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.679844	0.88542	.	.	ENSG00000116191	ENST00000367635;ENST00000367634;ENST00000324778;ENST00000535251	T;T;T	0.43688	0.94;0.94;0.94	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.61073	0.2318	M	0.71036	2.16	0.80722	D	1	D;P	0.59357	0.985;0.893	P;P	0.57057	0.812;0.614	T	0.63427	-0.6640	10	0.62326	D	0.03	.	19.1111	0.93317	0.0:1.0:0.0:0.0	.	363;363	B7Z7B1;Q86X27	.;RGPS2_HUMAN	Q	363;363;328;12	ENSP00000356607:P363Q;ENSP00000356606:P363Q;ENSP00000313613:P328Q	ENSP00000313613:P328Q	P	+	2	0	RALGPS2	177121774	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.318000	0.79029	2.623000	0.88846	0.655000	0.94253	CCA		0.358	RALGPS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084926.2	NM_152663		6	476	1	0	1.12685e-05	1.12685e-05	0.00155022	6	476				
ZNF493	284443	broad.mit.edu	37	19	21606544	21606544	+	Silent	SNP	C	C	T	rs563481308	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr19:21606544C>T	ENST00000355504.4	+	2	965	c.699C>T	c.(697-699)tcC>tcT	p.S233S	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000392288.2_Silent_p.S361S	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	233					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)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						ATAAGGAGTCCTCACACCTTA	0.358													.|||	2	0.000399361	0.0	0.0014	5008	,	,		18685	0.001		0.0	False		,,,				2504	0.0					ENST00000392288.2																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						c.(1081-1083)tcC>tcT		zinc finger protein 493							48.0	53.0	51.0					19																	21606544		2202	4296	6498	SO:0001819	synonymous_variant	284443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21606544C>T	AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"""Zinc fingers, C2H2-type"", ""-"""	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.699C>T	19.37:g.21606544C>T						CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Silent_p.S233S	p.S361S	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN			4	1192	+			233					G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Silent	SNP	ENST00000355504.4	37	c.1083C>T	CCDS12412.1																																																																																				0.358	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910		10	729	0	0	0	6.40141e-05	0	10	729				
KIR2DL3	3804	broad.mit.edu	37	19	55263867	55263867	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr19:55263867C>A	ENST00000342376.3	+	8	953	c.922C>A	c.(922-924)Cac>Aac	p.H308N	CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR2DL3_ENST00000434419.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron	NM_015868.2	NP_056952.2	P43628	KI2L3_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3	308					immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		ACAGTTGAATCACTGCGTTTT	0.502																																						ENST00000342376.3																			0				breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	21						c.(922-924)Cac>Aac		killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3							210.0	217.0	215.0					19																	55263867		2039	4010	6049	SO:0001583	missense	3804							g.chr19:55263867C>A	L41268	CCDS33107.1	19q13.4	2013-01-29				ENSG00000243772		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6331	protein-coding gene	gene with protein product		604938				7749980, 8662091	Standard	XM_006725426		Approved	cl-6, nkat2, nkat2a, nkat2b, p58, CD158B2		P43628	OTTHUMG00000065887	ENST00000342376.3:c.922C>A	19.37:g.55263867C>A	ENSP00000342215:p.His308Asn					KIR3DL1_ENST00000541392.1_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL3_ENST00000434419.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000538269.1_Intron	p.H308N	NM_015868.2	NP_056952.2				GBM - Glioblastoma multiforme(193;0.0192)	8	953	+								O43472|P78402|Q14944|Q14945|Q9UM51|Q9UQ70	Missense_Mutation	SNP	ENST00000342376.3	37	c.922C>A	CCDS33107.1	.	.	.	.	.	.	.	.	.	.	C	10.72	1.430494	0.25726	.	.	ENSG00000243772	ENST00000342376	T	0.00464	7.24	1.06	1.06	0.20224	.	.	.	.	.	T	0.01489	0.0048	M	0.92507	3.315	0.09310	N	0.999999	P;P;P	0.44986	0.769;0.847;0.847	P;P;P	0.61397	0.888;0.544;0.544	T	0.26573	-1.0099	9	0.87932	D	0	.	5.5228	0.16941	0.0:1.0:0.0:0.0	.	210;308;308	P43628-2;P43628;E3NZD8	.;KI2L3_HUMAN;.	N	308	ENSP00000342215:H308N	ENSP00000342215:H308N	H	+	1	0	KIR2DL3	59955679	0.005000	0.15991	0.002000	0.10522	0.012000	0.07955	1.002000	0.29796	0.889000	0.36185	0.298000	0.19748	CAC		0.502	KIR2DL3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000141150.1			16	1367	1	0	1.49906e-05	1.49906e-05	0.00199465	16	1367				
BCS1L	617	broad.mit.edu	37	2	219525978	219525978	+	Missense_Mutation	SNP	C	C	A	rs369691608		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr2:219525978C>A	ENST00000431802.1	+	2	967	c.268C>A	c.(268-270)Cgc>Agc	p.R90S	BCS1L_ENST00000392111.2_Missense_Mutation_p.R90S|BCS1L_ENST00000392109.1_Missense_Mutation_p.R90S|BCS1L_ENST00000439945.1_Missense_Mutation_p.R90S|ZNF142_ENST00000449707.1_5'Flank|BCS1L_ENST00000359273.3_Missense_Mutation_p.R90S|BCS1L_ENST00000392110.2_Missense_Mutation_p.R90S|ZNF142_ENST00000411696.2_5'Flank|BCS1L_ENST00000412366.1_Missense_Mutation_p.R90S			Q9Y276	BCS1_HUMAN	BC1 (ubiquinol-cytochrome c reductase) synthesis-like	90					mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex III assembly (GO:0034551)|mitochondrial respiratory chain complex IV assembly (GO:0033617)|mitochondrion organization (GO:0007005)	mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8		Renal(207;0.0474)		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGAGAGTGGCCGCATTTCCAC	0.522																																						ENST00000431802.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8						c.(268-270)Cgc>Agc		BC1 (ubiquinol-cytochrome c reductase) synthesis-like							120.0	125.0	124.0					2																	219525978		2203	4300	6503	SO:0001583	missense	617				mitochondrial respiratory chain complex I assembly|mitochondrial respiratory chain complex III assembly|mitochondrial respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain complex III	ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr2:219525978C>A	AF026849	CCDS2419.1	2q35	2014-09-17	2012-10-12		ENSG00000074582	ENSG00000074582		"""ATPases / AAA-type"", ""Mitochondrial respiratory chain complex assembly factors"""	1020	protein-coding gene	gene with protein product	"""GRACILE syndrome"", ""Bjornstad syndrome"""	603647	"""BCS1 (yeast homolog)-like"", ""BCS1-like (yeast)"", ""BCS1-like (S. cerevisiae)"""			9878253, 17314340	Standard	NM_001079866		Approved	Hs.6719, BCS, h-BCS, BJS	uc002viq.3	Q9Y276	OTTHUMG00000133114	ENST00000431802.1:c.268C>A	2.37:g.219525978C>A	ENSP00000413908:p.Arg90Ser					BCS1L_ENST00000359273.3_Missense_Mutation_p.R90S|BCS1L_ENST00000412366.1_Missense_Mutation_p.R90S|BCS1L_ENST00000439945.1_Missense_Mutation_p.R90S|BCS1L_ENST00000392109.1_Missense_Mutation_p.R90S|BCS1L_ENST00000392110.2_Missense_Mutation_p.R90S|BCS1L_ENST00000392111.2_Missense_Mutation_p.R90S	p.R90S			Q9Y276	BCS1_HUMAN		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	2	967	+		Renal(207;0.0474)	90					B3KTW9|Q7Z2V7	Missense_Mutation	SNP	ENST00000431802.1	37	c.268C>A	CCDS2419.1	.	.	.	.	.	.	.	.	.	.	C	7.689	0.690688	0.15039	.	.	ENSG00000074582	ENST00000430322;ENST00000456050;ENST00000359273;ENST00000392109;ENST00000392110;ENST00000423377;ENST00000392111;ENST00000412366;ENST00000439945;ENST00000431802	D;D;D;D;D;D;D;D;D;D	0.96073	-3.9;-3.9;-2.29;-2.29;-2.29;-2.93;-2.29;-2.29;-2.29;-2.29	5.6	4.73	0.59995	BCS1, N-terminal (1);	0.121283	0.56097	D	0.000032	D	0.90195	0.6935	N	0.24115	0.695	0.51233	D	0.999917	B	0.24483	0.104	B	0.27262	0.078	D	0.85611	0.1258	10	0.08381	T	0.77	-10.8847	14.3379	0.66603	0.0:0.9291:0.0:0.0709	.	90	Q9Y276	BCS1_HUMAN	S	90	ENSP00000398957:R90S;ENSP00000395440:R90S;ENSP00000352219:R90S;ENSP00000375957:R90S;ENSP00000375958:R90S;ENSP00000397293:R90S;ENSP00000375959:R90S;ENSP00000406494:R90S;ENSP00000404999:R90S;ENSP00000413908:R90S	ENSP00000352219:R90S	R	+	1	0	BCS1L	219234222	1.000000	0.71417	0.881000	0.34555	0.983000	0.72400	5.933000	0.70130	1.367000	0.46095	0.655000	0.94253	CGC		0.522	BCS1L-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336756.1	NM_004328		9	713	1	0	1.76689e-08	2.17888e-05	3.80742e-06	9	713				
MYH4	4622	broad.mit.edu	37	17	10357158	10357158	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr17:10357158C>A	ENST00000255381.2	-	23	2846	c.2736G>T	c.(2734-2736)ttG>ttT	p.L912F	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	912					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TGGTTTTAATCAACTGATCAC	0.408																																						ENST00000255381.2																			0				NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.(2734-2736)ttG>ttT		myosin, heavy chain 4, skeletal muscle							286.0	264.0	271.0					17																	10357158		2203	4300	6503	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10357158C>A		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.2736G>T	17.37:g.10357158C>A	ENSP00000255381:p.Leu912Phe					CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.L912F	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN			23	2846	-			912						Missense_Mutation	SNP	ENST00000255381.2	37	c.2736G>T	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.402888	0.42613	.	.	ENSG00000141048	ENST00000255381	D	0.95412	-3.7	5.43	-1.39	0.08997	.	0.000000	0.30639	U	0.009189	D	0.98157	0.9391	H	0.98786	4.33	0.44289	D	0.997154	D	0.89917	1.0	D	0.83275	0.996	D	0.95774	0.8811	10	0.87932	D	0	.	7.1582	0.25649	0.0:0.4773:0.2067:0.316	.	912	Q9Y623	MYH4_HUMAN	F	912	ENSP00000255381:L912F	ENSP00000255381:L912F	L	-	3	2	MYH4	10297883	0.989000	0.36119	0.401000	0.26359	0.842000	0.47809	0.287000	0.18920	-0.112000	0.11979	-0.886000	0.02939	TTG		0.408	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		12	885	1	0	5.50884e-06	0.00010058	0.000838376	12	885				
UNG	7374	broad.mit.edu	37	12	109547720	109547720	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr12:109547720C>A	ENST00000242576.2	+	7	994	c.888C>A	c.(886-888)acC>acA	p.T296T	UNG_ENST00000336865.2_Silent_p.T287T|RP11-968O1.5_ENST00000541704.2_RNA	NM_080911.2	NP_550433.1			uracil-DNA glycosylase											central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						TTTCAAAGACCAATGAGCTGC	0.478								Base excision repair (BER), DNA glycosylases	Immune Deficiency with Hyper-IgM																													ENST00000336865.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						c.(859-861)acC>acA	Base excision repair (BER), DNA glycosylases	uracil-DNA glycosylase							97.0	95.0	96.0					12																	109547720		2203	4300	6503	SO:0001819	synonymous_variant	7374	Immune Deficiency with Hyper-IgM	Familial Cancer Database	Hypogammaglobulinemia with Hyper-IgM, HIGM type I-V, XLHIGM	base-excision repair|interspecies interaction between organisms	mitochondrion|nucleus	protein binding|uracil DNA N-glycosylase activity	g.chr12:109547720C>A	A64377	CCDS9124.1, CCDS9125.1	12q23-q24.1	2014-09-17			ENSG00000076248	ENSG00000076248	3.2.2.27		12572	protein-coding gene	gene with protein product	"""uracil-DNA glycosylase 1, uracil-DNA glycosylase 2"""	191525		DGU		1923798, 17101234	Standard	NM_080911		Approved	UDG, UNG1, UNG2, HIGM4	uc001tnz.2	P13051	OTTHUMG00000169247	ENST00000242576.2:c.888C>A	12.37:g.109547720C>A						UNG_ENST00000242576.2_Silent_p.T296T	p.T287T	NM_003362.3	NP_003353.1	P13051	UNG_HUMAN			6	1070	+			296						Silent	SNP	ENST00000242576.2	37	c.861C>A	CCDS9124.1	.	.	.	.	.	.	.	.	.	.	C	10.70	1.423234	0.25639	.	.	ENSG00000076248	ENST00000542183	.	.	.	5.82	4.02	0.46733	.	.	.	.	.	T	0.60340	0.2261	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61252	-0.7100	5	0.87932	D	0	-14.9663	4.4685	0.11701	0.2511:0.5308:0.0:0.2181	.	.	.	.	Q	50	.	ENSP00000438623:P50Q	P	+	2	0	UNG	108032103	0.609000	0.26975	1.000000	0.80357	0.961000	0.63080	-0.176000	0.09811	0.831000	0.34780	-0.219000	0.12488	CCA		0.478	UNG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403067.1	NM_080911		11	611	1	0	3.86212e-05	3.86212e-05	0.00414285	11	611				
CPT1B	1375	broad.mit.edu	37	22	51012928	51012928	+	Silent	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr22:51012928G>T	ENST00000360719.2	-	8	1016	c.879C>A	c.(877-879)atC>atA	p.I293I	CPT1B_ENST00000434492.2_Silent_p.I90I|CPT1B_ENST00000457250.1_Silent_p.I259I|CPT1B_ENST00000405237.3_Silent_p.I293I|CPT1B_ENST00000440709.1_Silent_p.I293I|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000395650.2_Silent_p.I293I|CPT1B_ENST00000312108.7_Silent_p.I293I	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	293					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		TCACAGGCTTGATTTCTTCAC	0.557																																					Esophageal Squamous(170;988 1933 25577 30295 48163)	ENST00000360719.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(877-879)atC>atA		carnitine palmitoyltransferase 1B (muscle)							197.0	159.0	172.0					22																	51012928		2203	4300	6503	SO:0001819	synonymous_variant	1375				carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr22:51012928G>T	U62733	CCDS14098.1, CCDS46734.1	22q13.33	2007-07-26			ENSG00000205560	ENSG00000205560			2329	protein-coding gene	gene with protein product		601987				9070950	Standard	NM_152245		Approved	M-CPT1, CPT1-M	uc003bmm.3	Q92523	OTTHUMG00000137390	ENST00000360719.2:c.879C>A	22.37:g.51012928G>T						CPT1B_ENST00000440709.1_Silent_p.I293I|CPT1B_ENST00000312108.7_Silent_p.I293I|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000457250.1_Silent_p.I259I|CPT1B_ENST00000395650.2_Silent_p.I293I|CPT1B_ENST00000405237.3_Silent_p.I293I|CPT1B_ENST00000434492.2_Silent_p.I90I	p.I293I	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)	8	1016	-		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	293					B7Z4U4|B7Z5T8|E9PCP2|Q13389|Q99655|Q9BY90	Silent	SNP	ENST00000360719.2	37	c.879C>A	CCDS14098.1																																																																																				0.557	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317264.5	NM_152246		15	558	1	0	9.7654e-05	9.7654e-05	0.00856336	15	558				
ZNF443	10224	broad.mit.edu	37	19	12542302	12542302	+	Silent	SNP	C	C	T	rs544462649		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr19:12542302C>T	ENST00000301547.5	-	4	881	c.684G>A	c.(682-684)aaG>aaA	p.K228K	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	228					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						TAGAACACTGCTTACATTCAT	0.373													.|||	1	0.000199681	0.0	0.0	5008	,	,		23379	0.0		0.0	False		,,,				2504	0.001					ENST00000301547.5																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						c.(682-684)aaG>aaA		zinc finger protein 443							116.0	120.0	119.0					19																	12542302		2203	4299	6502	SO:0001819	synonymous_variant	10224				induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12542302C>T	AB011414	CCDS32918.1	19p13.13	2013-01-08			ENSG00000180855	ENSG00000180855		"""Zinc fingers, C2H2-type"", ""-"""	20878	protein-coding gene	gene with protein product		606697				9731181	Standard	NM_005815		Approved	ZK1	uc002mtu.3	Q9Y2A4	OTTHUMG00000156404	ENST00000301547.5:c.684G>A	19.37:g.12542302C>T						CTD-3105H18.16_ENST00000595562.1_Intron	p.K228K	NM_005815.4	NP_005806.2	Q9Y2A4	ZN443_HUMAN			4	881	-			228						Silent	SNP	ENST00000301547.5	37	c.684G>A	CCDS32918.1																																																																																				0.373	ZNF443-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344084.1	NM_005815		8	1239	0	0	0	5.18039e-06	0	8	1239				
ACTR10	55860	broad.mit.edu	37	14	58698943	58698943	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr14:58698943C>A	ENST00000254286.4	+	12	1110	c.1030C>A	c.(1030-1032)Cat>Aat	p.H344N		NM_018477.2	NP_060947.1	Q9NZ32	ARP10_HUMAN	actin-related protein 10 homolog (S. cerevisiae)	344					microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|dynactin complex (GO:0005869)				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	13						ATTTCGAATTCATACTCCACC	0.348																																						ENST00000254286.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	13						c.(1030-1032)Cat>Aat		actin-related protein 10 homolog (S. cerevisiae)							86.0	95.0	92.0					14																	58698943		2203	4300	6503	SO:0001583	missense	55860					cytoplasm		g.chr14:58698943C>A	AF220190	CCDS32090.1	14q23.1	2014-08-08			ENSG00000131966	ENSG00000131966			17372	protein-coding gene	gene with protein product						12857853	Standard	NM_018477		Approved	HARP11, ACTR11, Arp11	uc001xdf.3	Q9NZ32	OTTHUMG00000171049	ENST00000254286.4:c.1030C>A	14.37:g.58698943C>A	ENSP00000254286:p.His344Asn					ACTR10_ENST00000554402.1_3'UTR	p.H344N	NM_018477.2	NP_060947.1	Q9NZ32	ARP10_HUMAN			12	1110	+			344					Q9H9Y5|Q9NWY2	Missense_Mutation	SNP	ENST00000254286.4	37	c.1030C>A	CCDS32090.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.8|27.8	4.861387|4.861387	0.91433|0.91433	.|.	.|.	ENSG00000131966|ENSG00000131966	ENST00000254286|ENST00000554642	D|.	0.94650|.	-3.48|.	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.82559|.	0.5063|.	M|M	0.82323|0.82323	2.585|2.585	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.999;0.999|.	D;D|.	0.68039|.	0.955;0.955|.	T|.	0.82452|.	-0.0450|.	9|.	.|.	.|.	.|.	0.0837|0.0837	19.3504|19.3504	0.94381|0.94381	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	344;344|.	Q53H79;Q9NZ32|.	.;ARP10_HUMAN|.	N|X	344|75	ENSP00000254286:H344N|.	.|.	H|S	+|+	1|2	0|0	ACTR10|ACTR10	57768696|57768696	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.687000|7.687000	0.84139|0.84139	2.885000|2.885000	0.99019|0.99019	0.655000|0.655000	0.94253|0.94253	CAT|TCA		0.348	ACTR10-002	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411405.1			12	837	1	0	1.15088e-07	3.45872e-05	2.33532e-05	12	837				
ANK3	288	broad.mit.edu	37	10	61941116	61941116	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr10:61941116G>T	ENST00000280772.2	-	18	2346	c.2155C>A	c.(2155-2157)Caa>Aaa	p.Q719K	ANK3_ENST00000373827.2_Missense_Mutation_p.Q713K|ANK3_ENST00000503366.1_Missense_Mutation_p.Q702K	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	719					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGAGCCCCTTGGTTTACGAGG	0.507																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(2155-2157)Caa>Aaa		ankyrin 3, node of Ranvier (ankyrin G)							192.0	171.0	178.0					10																	61941116		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61941116G>T	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.2155C>A	10.37:g.61941116G>T	ENSP00000280772:p.Gln719Lys					ANK3_ENST00000373827.2_Missense_Mutation_p.Q713K|ANK3_ENST00000503366.1_Missense_Mutation_p.Q702K	p.Q719K	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			18	2346	-			719					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.2155C>A	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	G	19.52	3.843914	0.71488	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000503366;ENST00000395299;ENST00000395293;ENST00000395304;ENST00000536348	T;T;T	0.63255	-0.03;-0.03;-0.03	5.97	5.97	0.96955	Ankyrin repeat-containing domain (4);	0.000000	0.40222	N	0.001142	T	0.51024	0.1650	N	0.03281	-0.365	0.80722	D	1	B;B;P;B;P	0.48162	0.001;0.068;0.673;0.367;0.906	B;B;B;B;P	0.47603	0.007;0.145;0.42;0.216;0.551	T	0.63233	-0.6683	10	0.72032	D	0.01	.	20.4238	0.99064	0.0:0.0:1.0:0.0	.	702;380;263;713;719	E9PE32;E7EMJ1;Q59G01;Q5CZH9;Q12955	.;.;.;.;ANK3_HUMAN	K	719;713;702;681;380;375;263	ENSP00000280772:Q719K;ENSP00000362933:Q713K;ENSP00000425236:Q702K	ENSP00000280772:Q719K	Q	-	1	0	ANK3	61611122	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	6.660000	0.74417	2.828000	0.97474	0.655000	0.94253	CAA		0.507	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		8	757	1	0	2.17888e-05	2.17888e-05	0.002749	8	757				
RAB14	51552	broad.mit.edu	37	9	123949238	123949238	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr9:123949238G>T	ENST00000373840.4	-	5	581	c.344C>A	c.(343-345)cCa>cAa	p.P115Q		NM_016322.3	NP_057406.2	P61106	RAB14_HUMAN	RAB14, member RAS oncogene family	115					embryo development (GO:0009790)|endocytic recycling (GO:0032456)|fibroblast growth factor receptor signaling pathway (GO:0008543)|Golgi to endosome transport (GO:0006895)|GTP catabolic process (GO:0006184)|intracellular transport (GO:0046907)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of protein localization (GO:0032880)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|nuclear outer membrane-endoplasmic reticulum membrane network (GO:0042175)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|rough endoplasmic reticulum (GO:0005791)|trans-Golgi network transport vesicle (GO:0030140)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						TACAGTATTTGGATTGGTGAG	0.338																																						ENST00000373840.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						c.(343-345)cCa>cAa		RAB14, member RAS oncogene family							106.0	101.0	103.0					9																	123949238		2203	4298	6501	SO:0001583	missense	51552				embryo development|fibroblast growth factor receptor signaling pathway|Golgi to endosome transport|neurotransmitter secretion|protein transport|small GTPase mediated signal transduction	cytosol|early endosome membrane|Golgi membrane|Golgi stack|late endosome|lysosome|membrane fraction|nuclear outer membrane-endoplasmic reticulum membrane network|perinuclear region of cytoplasm|rough endoplasmic reticulum|trans-Golgi network transport vesicle	GDP binding|GTP binding|GTPase activity	g.chr9:123949238G>T	AF152463	CCDS6827.1	9q32-q34.11	2008-07-21			ENSG00000119396	ENSG00000119396		"""RAB, member RAS oncogene"""	16524	protein-coding gene	gene with protein product	"""F protein-binding protein 1"", ""bA165P4.3 (member RAS oncogene family)"", ""small GTP binding protein RAB14"""	612673				9792283, 15004230	Standard	NM_016322		Approved	FBP, RAB-14	uc004blc.3	P61106	OTTHUMG00000020582	ENST00000373840.4:c.344C>A	9.37:g.123949238G>T	ENSP00000362946:p.Pro115Gln						p.P115Q	NM_016322.3	NP_057406.2	P61106	RAB14_HUMAN			5	581	-			115					B3KR31|P35287|Q5JVD4|Q6Q7K5|Q969L0|Q9UI11	Missense_Mutation	SNP	ENST00000373840.4	37	c.344C>A	CCDS6827.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.688945	0.88735	.	.	ENSG00000119396	ENST00000373840;ENST00000451303	T;T	0.75704	-0.96;-0.96	6.06	6.06	0.98353	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.79604	0.4474	L	0.28014	0.82	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74774	-0.3551	10	0.24483	T	0.36	.	19.6279	0.95687	0.0:0.0:1.0:0.0	.	115	P61106	RAB14_HUMAN	Q	115	ENSP00000362946:P115Q;ENSP00000400107:P115Q	ENSP00000362946:P115Q	P	-	2	0	RAB14	122989059	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.737000	0.98831	2.880000	0.98712	0.650000	0.86243	CCA		0.338	RAB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053857.1	NM_016322		8	461	1	0	2.17888e-05	2.17888e-05	0.002749	8	461				
IDE	3416	broad.mit.edu	37	10	94223733	94223733	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr10:94223733C>A	ENST00000265986.6	-	21	2572	c.2516G>T	c.(2515-2517)cGa>cTa	p.R839L	IDE_ENST00000496903.1_5'UTR|IDE_ENST00000371581.5_Missense_Mutation_p.R284L	NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	839					beta-amyloid metabolic process (GO:0050435)|bradykinin catabolic process (GO:0010815)|determination of adult lifespan (GO:0008340)|hormone catabolic process (GO:0042447)|insulin catabolic process (GO:1901143)|insulin metabolic process (GO:1901142)|insulin receptor signaling pathway (GO:0008286)|negative regulation of proteolysis (GO:0045861)|positive regulation of protein oligomerization (GO:0032461)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein homotetramerization (GO:0051289)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|ubiquitin homeostasis (GO:0010992)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|beta-amyloid binding (GO:0001540)|beta-endorphin binding (GO:0031626)|glycoprotein binding (GO:0001948)|insulin binding (GO:0043559)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					"""""""Insulin(DB00071)|Bacitracin(DB00626)|Insulin Regular(DB00030)"""	GCCATTAGCTCGACGTGGCCC	0.453																																						ENST00000265986.6																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33						c.(2515-2517)cGa>cTa		insulin-degrading enzyme	Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						201.0	198.0	199.0					10																	94223733		2203	4300	6503	SO:0001583	missense	3416				beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding	g.chr10:94223733C>A	M21188	CCDS7421.1, CCDS53554.1	10q23-q25	2007-03-27			ENSG00000119912	ENSG00000119912			5381	protein-coding gene	gene with protein product	"""insulysin"""	146680				2293021	Standard	NM_004969		Approved		uc001kia.3	P14735	OTTHUMG00000018759	ENST00000265986.6:c.2516G>T	10.37:g.94223733C>A	ENSP00000265986:p.Arg839Leu					IDE_ENST00000496903.1_5'UTR|IDE_ENST00000371581.5_Missense_Mutation_p.R284L	p.R839L	NM_004969.3	NP_004960.2	P14735	IDE_HUMAN			21	2572	-			839					B2R721|B7ZAU2|D3DR35|Q5T5N2	Missense_Mutation	SNP	ENST00000265986.6	37	c.2516G>T	CCDS7421.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.962777	0.92791	.	.	ENSG00000119912	ENST00000265986;ENST00000371581	T;T	0.07327	3.2;3.2	5.61	5.61	0.85477	Peptidase M16, C-terminal (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.000000	0.64402	D	0.000001	T	0.19327	0.0464	L	0.54863	1.705	0.80722	D	1	D;D	0.59767	0.978;0.986	P;P	0.58172	0.792;0.834	T	0.03863	-1.0997	10	0.07990	T	0.79	-8.6533	20.0016	0.97412	0.0:1.0:0.0:0.0	.	839;284	P14735;B3KSB8	IDE_HUMAN;.	L	839;284	ENSP00000265986:R839L;ENSP00000360637:R284L	ENSP00000265986:R839L	R	-	2	0	IDE	94213713	1.000000	0.71417	1.000000	0.80357	0.776000	0.43924	7.545000	0.82128	2.802000	0.96397	0.655000	0.94253	CGA		0.453	IDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049393.1	NM_004969		10	1049	1	0	0.00010058	0.00010058	0.00856336	10	1049				
SFXN4	119559	broad.mit.edu	37	10	120923683	120923683	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr10:120923683C>A	ENST00000355697.2	-	2	156	c.137G>T	c.(136-138)tGg>tTg	p.W46L	SFXN4_ENST00000461438.1_5'UTR|SFXN4_ENST00000330036.6_Missense_Mutation_p.W46L	NM_213649.1	NP_998814.1	Q6P4A7	SFXN4_HUMAN	sideroflexin 4	46					iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)			central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	11		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0261)		TAATTCTGTCCATTGAAGAAA	0.323																																						ENST00000355697.2																			0				central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	11						c.(136-138)tGg>tTg		sideroflexin 4							83.0	91.0	88.0					10																	120923683		2203	4300	6503	SO:0001583	missense	119559				iron ion homeostasis	integral to membrane|mitochondrial membrane	cation transmembrane transporter activity	g.chr10:120923683C>A		CCDS7610.1	10q26.11	2006-03-13			ENSG00000183605	ENSG00000183605		"""Sideroflexins"""	16088	protein-coding gene	gene with protein product		615564				14756423	Standard	NM_213649		Approved		uc001leb.3	Q6P4A7	OTTHUMG00000019147	ENST00000355697.2:c.137G>T	10.37:g.120923683C>A	ENSP00000347924:p.Trp46Leu					SFXN4_ENST00000461438.1_5'UTR|SFXN4_ENST00000330036.6_Missense_Mutation_p.W46L	p.W46L	NM_213649.1	NP_998814.1	Q6P4A7	SFXN4_HUMAN		all cancers(201;0.0261)	2	156	-		Lung NSC(174;0.094)|all_lung(145;0.123)	46					Q6WSU4|Q86TD9	Missense_Mutation	SNP	ENST00000355697.2	37	c.137G>T	CCDS7610.1	.	.	.	.	.	.	.	.	.	.	C	12.83	2.056769	0.36277	.	.	ENSG00000183605	ENST00000355697;ENST00000330036	T;T	0.27402	1.67;1.67	4.29	4.29	0.51040	.	0.151299	0.47852	D	0.000202	T	0.30696	0.0773	M	0.65498	2.005	0.46149	D	0.99889	P	0.35793	0.521	B	0.31245	0.126	T	0.26189	-1.0110	10	0.62326	D	0.03	-4.1067	12.1773	0.54192	0.0:1.0:0.0:0.0	.	46	Q6P4A7	SFXN4_HUMAN	L	46	ENSP00000347924:W46L;ENSP00000333200:W46L	ENSP00000333200:W46L	W	-	2	0	SFXN4	120913673	1.000000	0.71417	0.989000	0.46669	0.573000	0.36030	3.338000	0.52128	2.239000	0.73571	0.449000	0.29647	TGG		0.323	SFXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050642.3	XM_058406		10	990	1	0	6.40141e-05	6.40141e-05	0.00606515	10	990				
CNRIP1	25927	broad.mit.edu	37	2	68544303	68544303	+	Nonsense_Mutation	SNP	G	G	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr2:68544303G>A	ENST00000263655.3	-	2	921	c.316C>T	c.(316-318)Cag>Tag	p.Q106*	CNRIP1_ENST00000409862.1_Nonsense_Mutation_p.Q106*|CNRIP1_ENST00000481714.1_5'UTR|CNRIP1_ENST00000409559.3_Nonsense_Mutation_p.Q106*	NM_015463.2	NP_056278.1	Q96F85	CNRP1_HUMAN	cannabinoid receptor interacting protein 1	106										kidney(1)|large_intestine(5)|liver(1)|lung(1)|skin(1)	9						ATGGTGATCTGGATGGGTTGC	0.468																																						ENST00000263655.3																			0				kidney(1)|large_intestine(5)|liver(1)|lung(1)|skin(1)	9						c.(316-318)Cag>Tag		cannabinoid receptor interacting protein 1							186.0	161.0	170.0					2																	68544303		2203	4300	6503	SO:0001587	stop_gained	25927						protein binding	g.chr2:68544303G>A	AL110235	CCDS1886.1, CCDS46311.1	2p13	2008-02-05	2007-11-29	2007-11-29	ENSG00000119865	ENSG00000119865			24546	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 32"""	C2orf32		12477932	Standard	NM_015463		Approved	DKFZP566K1924, CRIP1, CRIP1a, CRIP1b	uc002sek.4	Q96F85	OTTHUMG00000129565	ENST00000263655.3:c.316C>T	2.37:g.68544303G>A	ENSP00000263655:p.Gln106*					CNRIP1_ENST00000409559.3_Nonsense_Mutation_p.Q106*|CNRIP1_ENST00000409862.1_Nonsense_Mutation_p.Q106*|CNRIP1_ENST00000481714.1_5'UTR	p.Q106*	NM_015463.2	NP_056278.1	Q96F85	CNRP1_HUMAN			2	921	-			106					B2R4D0|Q49AN4|Q9UFZ0	Nonsense_Mutation	SNP	ENST00000263655.3	37	c.316C>T	CCDS1886.1	.	.	.	.	.	.	.	.	.	.	G	37	6.464642	0.97590	.	.	ENSG00000119865	ENST00000409559;ENST00000263655;ENST00000409862	.	.	.	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-13.3606	17.0178	0.86424	0.0:0.0:1.0:0.0	.	.	.	.	X	106	.	ENSP00000263655:Q106X	Q	-	1	0	CNRIP1	68397807	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.967000	0.93402	2.697000	0.92050	0.555000	0.69702	CAG		0.468	CNRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251758.1	NM_015463		9	853	0	0	0	3.86212e-05	0	9	853				
GPR35	2859	broad.mit.edu	37	2	241569512	241569512	+	Missense_Mutation	SNP	G	G	A	rs368251622		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr2:241569512G>A	ENST00000319838.5	+	6	1085	c.143G>A	c.(142-144)cGc>cAc	p.R48H	GPR35_ENST00000430267.1_Missense_Mutation_p.R48H|GPR35_ENST00000403859.1_Missense_Mutation_p.R48H|GPR35_ENST00000407714.1_Missense_Mutation_p.R48H|GPR35_ENST00000438013.2_Missense_Mutation_p.R79H	NM_001195381.1	NP_001182310.1	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35	48					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		TTCTGCTGCCGCATGCAGCAG	0.647																																						ENST00000319838.5																			0				NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17						c.(142-144)cGc>cAc		G protein-coupled receptor 35		G	HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	84.0	75.0	78.0		236,236,143	2.9	0.8	2		78	0,8600		0,0,4300	no	missense,missense,missense	GPR35	NM_001195381.1,NM_001195382.1,NM_005301.3	29,29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	79/341,79/341,48/310	241569512	1,13005	2203	4300	6503	SO:0001583	missense	2859					integral to plasma membrane	G-protein coupled receptor activity	g.chr2:241569512G>A		CCDS2541.1, CCDS56174.1	2q37.3	2012-08-21			ENSG00000178623	ENSG00000178623		"""GPCR / Class A : Orphans"""	4492	protein-coding gene	gene with protein product		602646				9479505	Standard	NM_005301		Approved		uc021vze.1	Q9HC97	OTTHUMG00000133356	ENST00000319838.5:c.143G>A	2.37:g.241569512G>A	ENSP00000322731:p.Arg48His					GPR35_ENST00000407714.1_Missense_Mutation_p.R48H|GPR35_ENST00000438013.2_Missense_Mutation_p.R79H|GPR35_ENST00000430267.1_Missense_Mutation_p.R48H|GPR35_ENST00000403859.1_Missense_Mutation_p.R48H	p.R48H	NM_001195381.1	NP_001182310.1	Q9HC97	GPR35_HUMAN		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)	6	1085	+		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)	48					J3KR30|O43495|Q17R58|Q4VBN5|Q4ZFV2|Q6FHI8|Q86UH4	Missense_Mutation	SNP	ENST00000319838.5	37	c.143G>A	CCDS2541.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.219555	0.58560	2.27E-4	0.0	ENSG00000178623	ENST00000319838;ENST00000403859;ENST00000438013;ENST00000407714;ENST00000430267	T;T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61;-0.61	3.81	2.92	0.33932	GPCR, rhodopsin-like superfamily (1);	0.567532	0.16439	U	0.214392	T	0.73225	0.3560	L	0.39514	1.22	0.34064	D	0.657654	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77004	0.987;0.989;0.989	T	0.74497	-0.3646	10	0.36615	T	0.2	-28.6438	6.1563	0.20340	0.2348:0.0:0.7652:0.0	.	133;79;48	Q6ZMP9;A8K2J1;Q9HC97	.;.;GPR35_HUMAN	H	48;48;79;48;48	ENSP00000322731:R48H;ENSP00000385140:R48H;ENSP00000415890:R79H;ENSP00000384263:R48H;ENSP00000411788:R48H	ENSP00000322731:R48H	R	+	2	0	GPR35	241218185	0.000000	0.05858	0.789000	0.31954	0.616000	0.37450	-0.018000	0.12568	0.937000	0.37394	0.462000	0.41574	CGC		0.647	GPR35-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000325631.1	NM_001195382		6	247	0	0	0	3.59834e-05	0	6	247				
ZCCHC6	79670	broad.mit.edu	37	9	88953781	88953781	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr9:88953781G>T	ENST00000375963.3	-	9	1464	c.1292C>A	c.(1291-1293)cCa>cAa	p.P431Q	ZCCHC6_ENST00000375960.2_Intron|ZCCHC6_ENST00000375948.1_Missense_Mutation_p.P69Q|ZCCHC6_ENST00000277141.6_5'UTR|ZCCHC6_ENST00000375961.2_Missense_Mutation_p.P431Q	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	431					RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						AACCAGCTTTGGTTCTAGTTT	0.428																																						ENST00000375961.2																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						c.(1291-1293)cCa>cAa		zinc finger, CCHC domain containing 6							112.0	100.0	104.0					9																	88953781		2203	4300	6503	SO:0001583	missense	79670				RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding	g.chr9:88953781G>T	AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"""Zinc fingers, CCHC domain containing"""	25817	protein-coding gene	gene with protein product	"""TUTase7"""					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.1292C>A	9.37:g.88953781G>T	ENSP00000365130:p.Pro431Gln					ZCCHC6_ENST00000375948.1_Missense_Mutation_p.P69Q|ZCCHC6_ENST00000375963.3_Missense_Mutation_p.P431Q|ZCCHC6_ENST00000277141.6_5'UTR|ZCCHC6_ENST00000375960.2_Intron	p.P431Q			Q5VYS8	TUT7_HUMAN			9	1506	-			431					Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Missense_Mutation	SNP	ENST00000375963.3	37	c.1292C>A	CCDS35057.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.802284	0.90538	.	.	ENSG00000083223	ENST00000375961;ENST00000375963;ENST00000375948	T;T;T	0.73681	-0.77;-0.77;-0.77	4.56	4.56	0.56223	.	0.117764	0.64402	D	0.000017	D	0.84451	0.5475	M	0.77712	2.385	0.51482	D	0.999928	P;P	0.51653	0.947;0.891	P;P	0.58331	0.837;0.617	D	0.86390	0.1735	10	0.59425	D	0.04	-16.5782	17.8715	0.88812	0.0:0.0:1.0:0.0	.	431;431	Q5VYS8-2;Q5VYS8	.;TUT7_HUMAN	Q	431;431;69	ENSP00000365128:P431Q;ENSP00000365130:P431Q;ENSP00000365115:P69Q	ENSP00000365115:P69Q	P	-	2	0	ZCCHC6	88143601	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.788000	0.69020	2.520000	0.84964	0.655000	0.94253	CCA		0.428	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052918.1	NM_024617		8	420	1	0	2.80697e-09	6.40141e-05	6.21362e-07	8	420				
TXNDC2	84203	broad.mit.edu	37	18	9887463	9887463	+	Silent	SNP	C	C	T	rs111251988		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr18:9887463C>T	ENST00000306084.6	+	2	1186	c.987C>T	c.(985-987)atC>atT	p.I329I	TXNDC2_ENST00000357775.5_Silent_p.I262I|TXNDC2_ENST00000536353.2_3'UTR	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	329	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						AGGGTGACATCCCCAAGTCCC	0.592																																						ENST00000306084.6																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						c.(985-987)atC>atT		thioredoxin domain containing 2 (spermatozoa)							138.0	131.0	133.0					18																	9887463		2203	4300	6503	SO:0001819	synonymous_variant	0				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr18:9887463C>T	AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 1"""					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.987C>T	18.37:g.9887463C>T						TXNDC2_ENST00000357775.4_Silent_p.I262I|TXNDC2_ENST00000536353.2_3'UTR	p.I329I	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN			2	1186	+			329			22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.		A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Silent	SNP	ENST00000306084.6	37	c.987C>T	CCDS42414.1																																																																																				0.592	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1			8	476	0	0	0	5.18039e-06	0	8	476				
HAP1	9001	broad.mit.edu	37	17	39880981	39880981	+	Missense_Mutation	SNP	C	C	A	rs147264849	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr17:39880981C>A	ENST00000310778.5	-	12	1997	c.1988G>T	c.(1987-1989)cGg>cTg	p.R663L	HAP1_ENST00000347901.4_Missense_Mutation_p.R611L|HAP1_ENST00000341193.5_Missense_Mutation_p.R594L|HAP1_ENST00000393939.2_Missense_Mutation_p.R586L|JUP_ENST00000540235.1_Intron			P54257	HAP1_HUMAN	huntingtin-associated protein 1	663					anterograde axon cargo transport (GO:0008089)|autophagy (GO:0006914)|brain development (GO:0007420)|cell projection organization (GO:0030030)|exocytosis (GO:0006887)|negative regulation of beta-amyloid formation (GO:1902430)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|positive regulation of neurotrophin production (GO:0032901)|positive regulation of nonmotile primary cilium assembly (GO:1902857)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|protein localization (GO:0008104)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of organelle transport along microtubule (GO:1902513)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)|vesicle transport along microtubule (GO:0047496)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|inclusion body (GO:0016234)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synapse (GO:0045202)	brain-derived neurotrophic factor binding (GO:0048403)|ion channel binding (GO:0044325)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			GCAGCTTGTCCGGCTGGCGGC	0.617																																						ENST00000393939.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21						c.(1756-1758)cGg>cTg		huntingtin-associated protein 1							78.0	90.0	86.0					17																	39880981		2203	4300	6503	SO:0001583	missense	9001				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding	g.chr17:39880981C>A	AF040723	CCDS11406.1, CCDS42338.1, CCDS42339.1	17q21.2-q21.3	2008-04-23	2008-04-23		ENSG00000173805	ENSG00000173805			4812	protein-coding gene	gene with protein product	"""neuroan 1"""	600947		HAP2		7477378, 9668110	Standard	NM_177977		Approved	HLP, hHLP1, HIP5	uc002hxn.1	P54257	OTTHUMG00000133498	ENST00000310778.5:c.1988G>T	17.37:g.39880981C>A	ENSP00000309392:p.Arg663Leu					JUP_ENST00000540235.1_Intron|HAP1_ENST00000347901.4_Missense_Mutation_p.R611L|HAP1_ENST00000310778.5_Missense_Mutation_p.R663L|HAP1_ENST00000341193.5_Missense_Mutation_p.R594L	p.R586L			P54257	HAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.0677)		10	1766	-		Breast(137;0.000162)	663			Glu-rich.		A8MQB5|O75358|Q59GK4|Q9H4G3|Q9HA98|Q9NY90	Missense_Mutation	SNP	ENST00000310778.5	37	c.1757G>T		.	.	.	.	.	.	.	.	.	.	C	4.467	0.086539	0.08583	.	.	ENSG00000173805	ENST00000393939;ENST00000310778;ENST00000347901;ENST00000341193	T;T;T;T	0.05925	3.37;3.63;3.5;3.38	3.87	-3.79	0.04320	.	3.455040	0.00822	N	0.001599	T	0.03011	0.0089	N	0.03608	-0.345	0.19945	N	0.999941	B;B;B;B	0.06786	0.001;0.001;0.001;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.0	T	0.40627	-0.9553	10	0.44086	T	0.13	-0.0494	4.4024	0.11393	0.1562:0.3476:0.0:0.4962	.	586;594;611;663	P54257-3;P54257-4;P54257-2;P54257	.;.;.;HAP1_HUMAN	L	586;663;611;594	ENSP00000377513:R586L;ENSP00000309392:R663L;ENSP00000334002:R611L;ENSP00000343170:R594L	ENSP00000309392:R663L	R	-	2	0	HAP1	37134507	0.007000	0.16637	0.087000	0.20705	0.043000	0.13939	-2.788000	0.00768	-0.824000	0.04295	-1.337000	0.01257	CGG		0.617	HAP1-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000389619.1	NM_003949		9	810	1	0	0.00010058	0.00010058	0.00856336	9	810				
CSDE1	7812	broad.mit.edu	37	1	115282502	115282502	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr1:115282502C>A	ENST00000358528.4	-	3	436	c.10G>T	c.(10-12)Gat>Tat	p.D4Y	CSDE1_ENST00000530886.1_Intron|CSDE1_ENST00000261443.5_Missense_Mutation_p.D4Y|CSDE1_ENST00000369530.1_Missense_Mutation_p.D50Y|CSDE1_ENST00000438362.2_Missense_Mutation_p.D50Y|CSDE1_ENST00000534699.1_Missense_Mutation_p.D4Y|CSDE1_ENST00000339438.6_Missense_Mutation_p.D4Y	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	4					male gonad development (GO:0008584)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|regulation of transcription, DNA-templated (GO:0006355)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGGTTTGGATCAAAGCTCATC	0.343																																						ENST00000438362.2																			0				NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51						c.(148-150)Gat>Tat		cold shock domain containing E1, RNA-binding							225.0	233.0	230.0					1																	115282502		2203	4300	6503	SO:0001583	missense	7812				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding	g.chr1:115282502C>A		CCDS30811.1, CCDS30812.1, CCDS44197.1, CCDS55626.1	1p13.2	2011-11-02			ENSG00000009307	ENSG00000009307			29905	protein-coding gene	gene with protein product	"""upstream of NRAS"""	191510				2204029, 10048485	Standard	NM_007158		Approved	D1S155E, UNR	uc001efi.3	O75534	OTTHUMG00000012060	ENST00000358528.4:c.10G>T	1.37:g.115282502C>A	ENSP00000351329:p.Asp4Tyr					CSDE1_ENST00000534699.1_Missense_Mutation_p.D4Y|CSDE1_ENST00000530886.1_Intron|CSDE1_ENST00000339438.6_Missense_Mutation_p.D4Y|CSDE1_ENST00000358528.4_Missense_Mutation_p.D4Y|CSDE1_ENST00000261443.5_Missense_Mutation_p.D4Y|CSDE1_ENST00000369530.1_Missense_Mutation_p.D50Y	p.D50Y	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	526	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	4			CSD 1.		A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4	Missense_Mutation	SNP	ENST00000358528.4	37	c.148G>T	CCDS30812.1	.	.	.	.	.	.	.	.	.	.	C	18.77	3.695537	0.68386	.	.	ENSG00000009307	ENST00000339438;ENST00000438362;ENST00000358528;ENST00000261443;ENST00000369530;ENST00000534699;ENST00000534389;ENST00000525878;ENST00000525970	.	.	.	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.69459	0.3113	L	0.36672	1.1	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.85130	0.997;0.993;0.997	T	0.71167	-0.4672	9	0.87932	D	0	-4.3184	20.4324	0.99085	0.0:1.0:0.0:0.0	.	50;4;50	E9PGZ0;O75534;G5E9Q2	.;CSDE1_HUMAN;.	Y	4;50;4;4;50;4;4;4;4	.	ENSP00000261443:D4Y	D	-	1	0	CSDE1	115084025	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.833000	0.97629	0.585000	0.79938	GAT		0.343	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033397.1	NM_007158		16	1384	1	0	5.50884e-06	0.00010058	0.000838376	16	1384				
FANCD2	2177	broad.mit.edu	37	3	10108928	10108928	+	Missense_Mutation	SNP	G	G	T	rs34414402		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr3:10108928G>T	ENST00000419585.1	+	26	2582	c.2421G>T	c.(2419-2421)gaG>gaT	p.E807D	FANCD2_ENST00000287647.3_Missense_Mutation_p.E807D|FANCD2_ENST00000383806.1_Missense_Mutation_p.E807D|FANCD2_ENST00000383807.1_Missense_Mutation_p.E807D			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	807					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		CATCACCTGAGATGAAGGGGA	0.373			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000287647.3			yes	Rec		Fanconi anaemia D2	3	3p26	2177	"""D, Mis, N, F"""	"""Fanconi anemia, complementation group D2"""			L		"""AML, leukemia"""			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51						c.(2419-2421)gaG>gaT	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group D2							89.0	77.0	81.0					3																	10108928		2203	4300	6503	SO:0001583	missense	2177	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding	g.chr3:10108928G>T	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.2421G>T	3.37:g.10108928G>T	ENSP00000398754:p.Glu807Asp					FANCD2_ENST00000383807.1_Missense_Mutation_p.E807D|FANCD2_ENST00000383806.1_Missense_Mutation_p.E807D|FANCD2_ENST00000419585.1_Missense_Mutation_p.E807D	p.E807D	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	26	2514	+			807					Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Missense_Mutation	SNP	ENST00000419585.1	37	c.2421G>T	CCDS33696.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.680121	0.47886	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000383806;ENST00000419585	T;T;T;T	0.58940	0.3;0.3;0.3;0.3	5.44	4.51	0.55191	.	0.095731	0.64402	D	0.000001	T	0.40473	0.1118	L	0.29908	0.895	0.35906	D	0.830736	P;P	0.34587	0.458;0.458	B;B	0.33750	0.169;0.169	T	0.45190	-0.9278	10	0.21540	T	0.41	.	8.4757	0.33012	0.0:0.1664:0.6614:0.1722	.	807;807	Q9BXW9-2;Q9BXW9	.;FACD2_HUMAN	D	807	ENSP00000287647:E807D;ENSP00000373318:E807D;ENSP00000373317:E807D;ENSP00000398754:E807D	ENSP00000287647:E807D	E	+	3	2	FANCD2	10083928	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	2.991000	0.49409	2.571000	0.86741	0.585000	0.79938	GAG		0.373	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1			6	208	1	0	6.40141e-05	6.40141e-05	0.00606515	6	208				
ZNF563	147837	broad.mit.edu	37	19	12429722	12429722	+	Missense_Mutation	SNP	T	T	C			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr19:12429722T>C	ENST00000293725.5	-	4	1322	c.1117A>G	c.(1117-1119)Acg>Gcg	p.T373A		NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	373					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TGAGATAACGTTTTCCCACAC	0.413																																					GBM(39;623 795 5132 29510 31476)	ENST00000293725.5																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1117-1119)Acg>Gcg		zinc finger protein 563							191.0	181.0	184.0					19																	12429722		2203	4300	6503	SO:0001583	missense	147837				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12429722T>C	BC022523	CCDS12270.1	19p13.2	2013-09-20			ENSG00000188868	ENSG00000188868		"""Zinc fingers, C2H2-type"", ""-"""	30498	protein-coding gene	gene with protein product							Standard	NM_145276		Approved	FLJ34797	uc002mtp.3	Q8TA94	OTTHUMG00000156413	ENST00000293725.5:c.1117A>G	19.37:g.12429722T>C	ENSP00000293725:p.Thr373Ala						p.T373A	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN			4	1322	-			373					B2R9E7|Q8NAT7	Missense_Mutation	SNP	ENST00000293725.5	37	c.1117A>G	CCDS12270.1	.	.	.	.	.	.	.	.	.	.	T	0.004	-2.253024	0.00268	.	.	ENSG00000188868	ENST00000293725	T	0.03745	3.82	1.0	-1.65	0.08291	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01320	0.0043	N	0.05259	-0.085	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45963	-0.9225	9	0.02654	T	1	.	2.3025	0.04165	0.3613:0.2701:0.0:0.3686	.	373	Q8TA94	ZN563_HUMAN	A	373	ENSP00000293725:T373A	ENSP00000293725:T373A	T	-	1	0	ZNF563	12290722	0.000000	0.05858	0.003000	0.11579	0.233000	0.25261	-3.012000	0.00647	-0.501000	0.06605	-0.765000	0.03448	ACG		0.413	ZNF563-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344114.1	NM_145276		10	1110	0	0	0	3.86212e-05	0	10	1110				
FAM208B	54906	broad.mit.edu	37	10	5789164	5789164	+	Silent	SNP	C	C	A	rs199707358		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr10:5789164C>A	ENST00000328090.5	+	15	4405	c.3780C>A	c.(3778-3780)atC>atA	p.I1260I		NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	1260																	CAGTATTTATCAAACAAACAA	0.393																																						ENST00000328090.5																			0											c.(3778-3780)atC>atA		family with sequence similarity 208, member B							69.0	72.0	71.0					10																	5789164		1881	4115	5996	SO:0001819	synonymous_variant	54906							g.chr10:5789164C>A	BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.3780C>A	10.37:g.5789164C>A							p.I1260I	NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN			15	4405	+			1260					Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Silent	SNP	ENST00000328090.5	37	c.3780C>A	CCDS41485.1																																																																																				0.393	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782		14	513	1	0	4.35082e-09	1.64113e-05	9.45914e-07	14	513				
AGTPBP1	23287	broad.mit.edu	37	9	88287535	88287535	+	Silent	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr9:88287535G>T	ENST00000357081.3	-	7	642	c.498C>A	c.(496-498)gtC>gtA	p.V166V	AGTPBP1_ENST00000376081.4_Silent_p.V166V|AGTPBP1_ENST00000376083.3_Silent_p.V166V|AGTPBP1_ENST00000491784.1_5'UTR|AGTPBP1_ENST00000376080.1_Silent_p.V108V|AGTPBP1_ENST00000432218.1_Intron|AGTPBP1_ENST00000376109.3_Silent_p.V218V|AGTPBP1_ENST00000337006.4_Silent_p.V108V			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	166					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						AATTCTGCTTGACCAAATTCA	0.348																																						ENST00000357081.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						c.(496-498)gtC>gtA		ATP/GTP binding protein 1							98.0	99.0	99.0					9																	88287535		2203	4300	6503	SO:0001819	synonymous_variant	23287				C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr9:88287535G>T	AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 1"", ""tubulinyl-Tyr carboxypeptidase"", ""carboxypeptidase-tubulin"", ""tyrosine carboxypeptidase"", ""soluble carboxypeptidase"""	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.498C>A	9.37:g.88287535G>T						AGTPBP1_ENST00000337006.4_Silent_p.V108V|AGTPBP1_ENST00000491784.1_5'UTR|AGTPBP1_ENST00000376081.4_Silent_p.V166V|AGTPBP1_ENST00000376083.3_Silent_p.V166V|AGTPBP1_ENST00000376109.3_Silent_p.V218V|AGTPBP1_ENST00000376080.1_Silent_p.V108V|AGTPBP1_ENST00000432218.1_Intron	p.V166V			Q9UPW5	CBPC1_HUMAN			7	642	-			166					B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Silent	SNP	ENST00000357081.3	37	c.498C>A																																																																																					0.348	AGTPBP1-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052893.1	NM_015239		15	912	1	0	2.31682e-05	2.31682e-05	0.00284922	15	912				
KIF20B	9585	broad.mit.edu	37	10	91483759	91483759	+	Silent	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr10:91483759G>T	ENST00000371728.3	+	14	1826	c.1761G>T	c.(1759-1761)ctG>ctT	p.L587L	KIF20B_ENST00000260753.4_Silent_p.L587L|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000394289.2_Silent_p.L587L|KIF20B_ENST00000416354.1_Silent_p.L587L	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	587					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						AAAAAAAACTGATAAATGAAA	0.289																																						ENST00000416354.1																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						c.(1759-1761)ctG>ctT		kinesin family member 20B							40.0	48.0	45.0					10																	91483759		2179	4288	6467	SO:0001819	synonymous_variant	9585				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding	g.chr10:91483759G>T	L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.1761G>T	10.37:g.91483759G>T						KIF20B_ENST00000371728.3_Silent_p.L587L|KIF20B_ENST00000394289.2_Silent_p.L587L|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000260753.4_Silent_p.L587L	p.L587L			Q96Q89	KI20B_HUMAN			14	1833	+			587					A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Silent	SNP	ENST00000371728.3	37	c.1761G>T																																																																																					0.289	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195		10	486	1	0	2.27111e-07	0.00010058	4.53291e-05	10	486				
MTR	4548	broad.mit.edu	37	1	237024431	237024431	+	Nonsense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr1:237024431G>T	ENST00000366577.5	+	20	2444	c.2050G>T	c.(2050-2052)Gaa>Taa	p.E684*	MTR_ENST00000535889.1_Intron	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	684	B12-binding N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00666}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	ttAGGGCATTGAAAAACATAT	0.323																																						ENST00000366577.5																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67						c.(2050-2052)Gaa>Taa		5-methyltetrahydrofolate-homocysteine methyltransferase	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)						35.0	35.0	35.0					1																	237024431		2199	4298	6497	SO:0001587	stop_gained	4548				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding	g.chr1:237024431G>T	U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.2050G>T	1.37:g.237024431G>T	ENSP00000355536:p.Glu684*					MTR_ENST00000535889.1_Intron	p.E684*	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	20	2444	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	684			B12-binding N-terminal.		A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Nonsense_Mutation	SNP	ENST00000366577.5	37	c.2050G>T	CCDS1614.1	.	.	.	.	.	.	.	.	.	.	G	37	6.200572	0.97371	.	.	ENSG00000116984	ENST00000417743;ENST00000366577;ENST00000366576	.	.	.	5.43	5.43	0.79202	.	0.102591	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-26.8753	19.4279	0.94751	0.0:0.0:1.0:0.0	.	.	.	.	X	538;684;238	.	ENSP00000355535:E238X	E	+	1	0	MTR	235091054	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.827000	0.99397	2.824000	0.97209	0.655000	0.94253	GAA		0.323	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096632.2	NM_000254		12	238	1	0	8.34094e-07	1.15919e-05	0.000161192	12	238				
HERC2	8924	broad.mit.edu	37	15	28370319	28370319	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr15:28370319C>A	ENST00000261609.7	-	84	12931	c.12823G>T	c.(12823-12825)Gac>Tac	p.D4275Y		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TCATCATTGTCGCCCCATGTA	0.522																																						ENST00000261609.7																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(12823-12825)Gac>Tac		HECT and RLD domain containing E3 ubiquitin protein ligase 2							211.0	191.0	198.0					15																	28370319		2203	4300	6503	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28370319C>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.12823G>T	15.37:g.28370319C>A	ENSP00000261609:p.Asp4275Tyr						p.D4275Y	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	84	12931	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	4275						Missense_Mutation	SNP	ENST00000261609.7	37	c.12823G>T	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.814952	0.90790	.	.	ENSG00000128731	ENST00000261609	D	0.84730	-1.89	5.19	5.19	0.71726	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.88415	0.6430	L	0.28192	0.835	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90196	0.4253	10	0.87932	D	0	.	18.7201	0.91689	0.0:1.0:0.0:0.0	.	4275	O95714	HERC2_HUMAN	Y	4275	ENSP00000261609:D4275Y	ENSP00000261609:D4275Y	D	-	1	0	HERC2	26043914	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	7.808000	0.86044	2.408000	0.81797	0.655000	0.94253	GAC		0.522	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		10	1162	1	0	1.12685e-05	1.12685e-05	0.00155022	10	1162				
CEP57L1	285753	broad.mit.edu	37	6	109480272	109480272	+	Silent	SNP	A	A	G			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr6:109480272A>G	ENST00000517392.1	+	8	1215	c.789A>G	c.(787-789)tcA>tcG	p.S263S	CEP57L1_ENST00000359793.3_Silent_p.S263S|CEP57L1_ENST00000520883.1_Silent_p.S187S|CEP57L1_ENST00000521522.1_Silent_p.S234S|CEP57L1_ENST00000407272.1_Silent_p.S263S|CEP57L1_ENST00000336977.4_Silent_p.S187S|CEP57L1_ENST00000523787.1_Silent_p.S266S|CEP57L1_ENST00000368968.2_Silent_p.S263S|CEP57L1_ENST00000368970.2_Silent_p.S263S	NM_001271852.1|NM_001271853.1	NP_001258781.1|NP_001258782.1	Q8IYX8	CE57L_HUMAN	centrosomal protein 57kDa-like 1	263					microtubule anchoring (GO:0034453)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)	11						AAATTTGTTCAAAGTTTGGAG	0.328																																						ENST00000407272.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)	11						c.(787-789)tcA>tcG		centrosomal protein 57kDa-like 1							70.0	73.0	72.0					6																	109480272		2203	4300	6503	SO:0001819	synonymous_variant	285753					microtubule|microtubule organizing center		g.chr6:109480272A>G	AK092723	CCDS5071.1, CCDS64491.1	6q21	2014-01-28	2010-09-30	2010-09-30	ENSG00000183137	ENSG00000183137			21561	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 182"""	C6orf182			Standard	NM_001083535		Approved	bA487F23.2, MGC21731	uc003psy.4	Q8IYX8	OTTHUMG00000015336	ENST00000517392.1:c.789A>G	6.37:g.109480272A>G						CEP57L1_ENST00000368970.2_Silent_p.S263S|CEP57L1_ENST00000520883.1_Silent_p.S187S|CEP57L1_ENST00000336977.4_Silent_p.S187S|CEP57L1_ENST00000521522.1_Silent_p.S234S|CEP57L1_ENST00000523787.1_Silent_p.S266S|CEP57L1_ENST00000517392.1_Silent_p.S263S|CEP57L1_ENST00000368968.2_Silent_p.S263S|CEP57L1_ENST00000359793.3_Silent_p.S263S	p.S263S	NM_001083535.1	NP_001077004.1	Q8IYX8	CE57L_HUMAN			10	1366	+			263					G5E992	Silent	SNP	ENST00000517392.1	37	c.789A>G	CCDS5071.1																																																																																				0.328	CEP57L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041734.4	NM_173830		10	856	0	0	0	2.17888e-05	0	10	856				
ASPN	54829	broad.mit.edu	37	9	95232987	95232987	+	Silent	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr9:95232987G>T	ENST00000375544.3	-	3	594	c.351C>A	c.(349-351)atC>atA	p.I117I	CENPP_ENST00000375587.3_Intron|ASPN_ENST00000395538.3_Silent_p.I117I|ASPN_ENST00000375543.1_Silent_p.I117I	NM_017680.4	NP_060150	Q9BXN1	ASPN_HUMAN	asporin	117					bone mineralization (GO:0030282)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						CATTTTCTTTGATTTCCTTAA	0.289																																						ENST00000375544.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						c.(349-351)atC>atA		asporin							79.0	83.0	81.0					9																	95232987		2202	4289	6491	SO:0001819	synonymous_variant	54829				bone mineralization|negative regulation of tooth mineralization|negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	calcium ion binding	g.chr9:95232987G>T	AF316824		9q22.31	2008-05-14	2007-02-15		ENSG00000106819	ENSG00000106819		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	14872	protein-coding gene	gene with protein product	"""asporin proteoglycan"""	608135	"""asporin (LRR class 1)"""				Standard	NM_017680		Approved	FLJ20129, SLRR1C, PLAP1	uc004ase.2	Q9BXN1	OTTHUMG00000020227	ENST00000375544.3:c.351C>A	9.37:g.95232987G>T						CENPP_ENST00000375587.3_Intron|ASPN_ENST00000375543.1_Silent_p.I117I|ASPN_ENST00000395538.3_Silent_p.I117I	p.I117I	NM_017680.4	NP_060150.4	Q9BXN1	ASPN_HUMAN			3	594	-			117					Q5TBF3|Q96K79|Q96LD0|Q9NXP3	Silent	SNP	ENST00000375544.3	37	c.351C>A																																																																																					0.289	ASPN-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053094.1	NM_017680		14	540	1	0	1.49906e-05	1.49906e-05	0.00199465	14	540				
ABCA7	10347	broad.mit.edu	37	19	1045184	1045184	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr19:1045184C>A	ENST00000263094.6	+	12	1630	c.1399C>A	c.(1399-1401)Cgc>Agc	p.R467S	ABCA7_ENST00000435683.2_Missense_Mutation_p.R329S|ABCA7_ENST00000433129.1_Missense_Mutation_p.R467S	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	467					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CATCAAAATCCGCATGGACAT	0.642																																						ENST00000263094.6																			0				NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65						c.(1399-1401)Cgc>Agc		ATP-binding cassette, sub-family A (ABC1), member 7							43.0	44.0	44.0					19																	1045184		2202	4299	6501	SO:0001583	missense	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1045184C>A	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.1399C>A	19.37:g.1045184C>A	ENSP00000263094:p.Arg467Ser					ABCA7_ENST00000433129.1_Missense_Mutation_p.R467S|ABCA7_ENST00000435683.2_Missense_Mutation_p.R329S	p.R467S	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	12	1630	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	467					Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	37	c.1399C>A	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.592794	0.86953	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.98762	-5.12;-5.12	4.66	4.66	0.58398	.	.	.	.	.	D	0.99108	0.9693	M	0.85630	2.765	0.40486	D	0.980498	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99869	1.1093	9	0.87932	D	0	.	15.007	0.71519	0.0:1.0:0.0:0.0	.	329;467	Q8IZY2-2;Q8IZY2	.;ABCA7_HUMAN	S	467	ENSP00000263094:R467S;ENSP00000414062:R467S	ENSP00000263094:R467S	R	+	1	0	ABCA7	996184	0.996000	0.38824	1.000000	0.80357	0.911000	0.54048	3.113000	0.50376	2.118000	0.64928	0.462000	0.41574	CGC		0.642	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		8	565	1	0	3.86212e-05	3.86212e-05	0.00414285	8	565				
ZNF441	126068	broad.mit.edu	37	19	11892184	11892184	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr19:11892184C>A	ENST00000357901.4	+	4	1647	c.1545C>A	c.(1543-1545)ccC>ccA	p.P515P	ZNF441_ENST00000454339.2_Silent_p.P448P	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	515					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTGATTCTCCCAGTTCATTTC	0.403																																						ENST00000357901.4																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1543-1545)ccC>ccA		zinc finger protein 441							76.0	76.0	76.0					19																	11892184		2203	4299	6502	SO:0001819	synonymous_variant	126068				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11892184C>A	AK095956	CCDS12266.2	19p13.13	2013-01-08			ENSG00000197044	ENSG00000197044		"""Zinc fingers, C2H2-type"", ""-"""	20875	protein-coding gene	gene with protein product							Standard	NM_152355		Approved	FLJ38637	uc010dyj.3	Q8N8Z8	OTTHUMG00000154449	ENST00000357901.4:c.1545C>A	19.37:g.11892184C>A						ZNF441_ENST00000454339.2_Silent_p.P448P	p.P515P	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN			4	1647	+			515						Silent	SNP	ENST00000357901.4	37	c.1545C>A	CCDS12266.2																																																																																				0.403	ZNF441-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335273.3	NM_152355		9	574	1	0	6.40141e-05	6.40141e-05	0.00606515	9	574				
ENAH	55740	broad.mit.edu	37	1	225718263	225718263	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr1:225718263G>T	ENST00000366844.3	-	4	878	c.427C>A	c.(427-429)Caa>Aaa	p.Q143K	ENAH_ENST00000366843.2_Missense_Mutation_p.Q143K|ENAH_ENST00000284563.6_Missense_Mutation_p.Q162K|ENAH_ENST00000391874.2_5'UTR	NM_001008493.1|NM_018212.4	NP_001008493.1|NP_060682.2	Q8N8S7	ENAH_HUMAN	enabled homolog (Drosophila)	143					actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|intracellular transport (GO:0046907)|neural tube closure (GO:0001843)|T cell receptor signaling pathway (GO:0050852)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)|synapse (GO:0045202)	WW domain binding (GO:0050699)			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		TACCTTCTTTGAATTTCCAAT	0.358																																						ENST00000366844.2																			0				NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(427-429)Caa>Aaa		enabled homolog (Drosophila)							140.0	148.0	145.0					1																	225718263		2203	4300	6503	SO:0001583	missense	55740				axon guidance|intracellular transport|T cell receptor signaling pathway	cytosol|filopodium|focal adhesion|lamellipodium|synapse	actin binding|SH3 domain binding|WW domain binding	g.chr1:225718263G>T	AK001635	CCDS31040.1, CCDS31041.1	1q32.2	2013-08-06			ENSG00000154380	ENSG00000154380			18271	protein-coding gene	gene with protein product	"""mammalian enabled"""	609061				1420303	Standard	XM_005273182		Approved	FLJ10773, NDPP1, MENA	uc001hpc.1	Q8N8S7	OTTHUMG00000037742	ENST00000366844.3:c.427C>A	1.37:g.225718263G>T	ENSP00000355809:p.Gln143Lys					ENAH_ENST00000366843.2_Missense_Mutation_p.Q143K|ENAH_ENST00000391874.2_5'UTR|ENAH_ENST00000284563.6_Missense_Mutation_p.Q162K	p.Q143K	NM_001008493.1	NP_001008493.1	Q8N8S7	ENAH_HUMAN		GBM - Glioblastoma multiforme(131;0.19)	4	878	-	Breast(184;0.206)		143					D0PQI2|Q502W5|Q5T5M7|Q5VTQ9|Q5VTR0|Q9NVF3|Q9UFB8	Missense_Mutation	SNP	ENST00000366844.3	37	c.427C>A	CCDS31041.1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.309196	0.60414	.	.	ENSG00000154380	ENST00000366844;ENST00000366843;ENST00000284563;ENST00000538194	T;T;T	0.44881	1.13;1.13;0.91	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.56529	0.1991	L	0.32530	0.975	0.80722	D	1	D;D	0.58268	0.982;0.969	D;D	0.70227	0.968;0.93	T	0.55477	-0.8135	10	0.56958	D	0.05	-16.017	19.9859	0.97351	0.0:0.0:1.0:0.0	.	143;143	Q8N8S7-2;Q8N8S7	.;ENAH_HUMAN	K	143;143;162;142	ENSP00000355809:Q143K;ENSP00000355808:Q143K;ENSP00000284563:Q162K	ENSP00000284563:Q162K	Q	-	1	0	ENAH	223784886	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.558000	0.82253	2.717000	0.92951	0.555000	0.69702	CAA		0.358	ENAH-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000357426.2	NM_018212		12	612	1	0	5.35267e-07	9.7654e-05	0.000105111	12	612				
DYSF	8291	broad.mit.edu	37	2	71891480	71891480	+	Nonsense_Mutation	SNP	G	G	T	rs368142107		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr2:71891480G>T	ENST00000258104.3	+	45	5246	c.4969G>T	c.(4969-4971)Gaa>Taa	p.E1657*	DYSF_ENST00000409651.1_Nonsense_Mutation_p.E1689*|DYSF_ENST00000429174.2_Nonsense_Mutation_p.E1678*|DYSF_ENST00000410041.1_Nonsense_Mutation_p.E1675*|DYSF_ENST00000413539.2_Nonsense_Mutation_p.E1688*|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409744.1_Nonsense_Mutation_p.E1665*|DYSF_ENST00000409582.3_Nonsense_Mutation_p.E1695*|DYSF_ENST00000394120.2_Nonsense_Mutation_p.E1658*|DYSF_ENST00000409366.1_Nonsense_Mutation_p.E1679*|DYSF_ENST00000410020.3_Nonsense_Mutation_p.E1696*|DYSF_ENST00000409762.1_Nonsense_Mutation_p.E1674*	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1657	C2 6. {ECO:0000255|PROSITE- ProRule:PRU00041}.				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						CTCCAAGGACGAAAAGATCGG	0.552																																						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	GRCh37	CM070072	DYSF	M		c.(4969-4971)Gaa>Taa		dysferlin							113.0	92.0	99.0					2																	71891480		2203	4300	6503	SO:0001587	stop_gained	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71891480G>T	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.4969G>T	2.37:g.71891480G>T	ENSP00000258104:p.Glu1657*					DYSF_ENST00000409651.1_Nonsense_Mutation_p.E1689*|DYSF_ENST00000394120.2_Nonsense_Mutation_p.E1658*|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409744.1_Nonsense_Mutation_p.E1665*|DYSF_ENST00000410020.3_Nonsense_Mutation_p.E1696*|DYSF_ENST00000410041.1_Nonsense_Mutation_p.E1675*|DYSF_ENST00000429174.2_Nonsense_Mutation_p.E1678*|DYSF_ENST00000409366.1_Nonsense_Mutation_p.E1679*|DYSF_ENST00000413539.2_Nonsense_Mutation_p.E1688*|DYSF_ENST00000409582.3_Nonsense_Mutation_p.E1695*|DYSF_ENST00000409762.1_Nonsense_Mutation_p.E1674*	p.E1657*	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN			45	5246	+			1657			C2 5.		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Nonsense_Mutation	SNP	ENST00000258104.3	37	c.4969G>T	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	G	48	13.931724	0.99771	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	.	.	.	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-19.6304	16.0724	0.80943	0.0:0.0:1.0:0.0	.	.	.	.	X	1688;1674;1695;1678;1657;1689;1658;1665;1679;1696;1675	.	ENSP00000258104:E1657X	E	+	1	0	DYSF	71744988	1.000000	0.71417	0.932000	0.37286	0.935000	0.57460	7.864000	0.87037	2.393000	0.81446	0.561000	0.74099	GAA		0.552	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		9	440	1	0	0.00010058	0.00010058	0.00856336	9	440				
FUCA2	2519	broad.mit.edu	37	6	143823168	143823168	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr6:143823168C>A	ENST00000002165.6	-	5	1110	c.1055G>T	c.(1054-1056)cGa>cTa	p.R352L	RP1-20N2.6_ENST00000591189.1_RNA|RP1-20N2.6_ENST00000415586.1_RNA|RP1-20N2.6_ENST00000589563.1_RNA|RP1-20N2.6_ENST00000591892.1_RNA|FUCA2_ENST00000367585.1_5'UTR|FUCA2_ENST00000438118.2_3'UTR|RP1-20N2.6_ENST00000590703.1_RNA|RP1-20N2.6_ENST00000589489.1_RNA|RP1-20N2.6_ENST00000593175.1_RNA|RP1-20N2.6_ENST00000610068.1_RNA|RP1-20N2.6_ENST00000593045.1_RNA	NM_032020.4	NP_114409.2	Q9BTY2	FUCO2_HUMAN	fucosidase, alpha-L- 2, plasma	352					fucose metabolic process (GO:0006004)|glycoside catabolic process (GO:0016139)|regulation of entry of bacterium into host cell (GO:2000535)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-L-fucosidase activity (GO:0004560)|fucose binding (GO:0042806)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)		TTGCCTCAGTCGCTCCTCAAA	0.443																																						ENST00000002165.5																			0				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(1054-1056)cGa>cTa		fucosidase, alpha-L- 2, plasma							89.0	86.0	87.0					6																	143823168		2203	4300	6503	SO:0001583	missense	2519				fucose metabolic process	extracellular region	alpha-L-fucosidase activity|cation binding	g.chr6:143823168C>A	BC003060	CCDS5200.1	6q24	2012-10-02			ENSG00000001036	ENSG00000001036	3.2.1.51		4008	protein-coding gene	gene with protein product		136820				6590153	Standard	NM_032020		Approved	MGC1314, dJ20N2.5	uc003qjm.3	Q9BTY2	OTTHUMG00000015728	ENST00000002165.6:c.1055G>T	6.37:g.143823168C>A	ENSP00000002165:p.Arg352Leu					RP1-20N2.6_ENST00000591892.1_RNA|FUCA2_ENST00000438118.2_3'UTR|FUCA2_ENST00000367585.1_3'UTR|RP1-20N2.6_ENST00000589563.1_RNA	p.R352L	NM_032020.4	NP_114409.2	Q9BTY2	FUCO2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)	5	1110	-			352					E9PEB6|Q7Z6V1|Q7Z6Y2|Q8NBK4	Missense_Mutation	SNP	ENST00000002165.6	37	c.1055G>T	CCDS5200.1	.	.	.	.	.	.	.	.	.	.	C	35	5.462906	0.96257	.	.	ENSG00000001036	ENST00000002165;ENST00000451668	T;T	0.58358	0.34;0.34	5.98	5.98	0.97165	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.72211	0.3432	M	0.84511	2.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.67898	-0.5551	10	0.30854	T	0.27	-21.6749	20.4581	0.99154	0.0:1.0:0.0:0.0	.	31;352	Q7Z6V2;Q9BTY2	.;FUCO2_HUMAN	L	352;31	ENSP00000002165:R352L;ENSP00000398119:R31L	ENSP00000002165:R352L	R	-	2	0	FUCA2	143864861	1.000000	0.71417	0.910000	0.35882	0.949000	0.60115	7.445000	0.80570	2.835000	0.97688	0.650000	0.86243	CGA		0.443	FUCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042521.2	NM_032020		9	451	1	0	3.07112e-06	6.40141e-05	0.000526632	9	451				
SYNRG	11276	broad.mit.edu	37	17	35902213	35902213	+	Silent	SNP	C	C	A	rs370791933		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr17:35902213C>A	ENST00000339208.6	-	15	3203	c.3063G>T	c.(3061-3063)tcG>tcT	p.S1021S	SYNRG_ENST00000502449.2_Silent_p.S898S|SYNRG_ENST00000346661.4_Silent_p.S1021S|SYNRG_ENST00000345615.4_Silent_p.S943S|SYNRG_ENST00000585472.1_Silent_p.S942S|SYNRG_ENST00000394378.2_Silent_p.S943S|SYNRG_ENST00000591288.1_Silent_p.S815S	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	1021					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CAAAGTCATCCGAACATTCGT	0.483																																						ENST00000339208.6																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(3061-3063)tcG>tcT		synergin, gamma							85.0	90.0	89.0					17																	35902213		2203	4300	6503	SO:0001819	synonymous_variant	11276				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding	g.chr17:35902213C>A	AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"""gamma-synergin"", ""adaptor-related protein complex 1 gamma subunit-binding protein 1"""	607291	"""AP1 gamma subunit binding protein 1"""	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.3063G>T	17.37:g.35902213C>A						SYNRG_ENST00000585472.1_Silent_p.S942S|SYNRG_ENST00000394378.2_Silent_p.S943S|SYNRG_ENST00000346661.4_Silent_p.S1021S|SYNRG_ENST00000345615.4_Silent_p.S943S|SYNRG_ENST00000502449.2_Silent_p.S898S|SYNRG_ENST00000591288.1_Silent_p.S815S	p.S1021S	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN			15	3203	-			1021					A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Silent	SNP	ENST00000339208.6	37	c.3063G>T	CCDS11321.1																																																																																				0.483	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256811.2	NM_007247		10	673	1	0	3.86212e-05	3.86212e-05	0.00414285	10	673				
MUM1	84939	broad.mit.edu	37	19	1357015	1357015	+	Missense_Mutation	SNP	C	C	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr19:1357015C>T	ENST00000415183.3	+	2	94	c.68C>T	c.(67-69)gCc>gTc	p.A23V	MUM1_ENST00000591806.1_Missense_Mutation_p.A23V|MUM1_ENST00000311401.5_5'UTR|MUM1_ENST00000344663.3_Missense_Mutation_p.A23V			Q2TAK8	MUM1_HUMAN	melanoma associated antigen (mutated) 1	22					chromatin organization (GO:0006325)|DNA repair (GO:0006281)	nucleus (GO:0005634)	nucleosome binding (GO:0031491)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TAGGTTTTGGCCCGAACCGCG	0.368																																						ENST00000344663.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(67-69)gCc>gTc		melanoma associated antigen (mutated) 1							116.0	109.0	112.0					19																	1357015		2203	4300	6503	SO:0001583	missense	84939				chromatin organization|DNA repair	nucleus	nucleosome binding|protein binding	g.chr19:1357015C>T	AK075241	CCDS12062.1	19p13.3	2008-02-05				ENSG00000160953			29641	protein-coding gene	gene with protein product						11042152, 7644523	Standard	NM_032853		Approved	MUM-1	uc002lrz.2	Q2TAK8		ENST00000415183.3:c.68C>T	19.37:g.1357015C>T	ENSP00000394925:p.Ala23Val					MUM1_ENST00000415183.3_Missense_Mutation_p.A23V|MUM1_ENST00000591806.1_Missense_Mutation_p.A23V|MUM1_ENST00000311401.5_5'UTR	p.A23V			Q2TAK8	MUM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	169	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	22					A1L489|B5ME02|B7ZLY8|J3KQD6|Q13109|Q5XKB9|Q8N2I4|Q96A67	Missense_Mutation	SNP	ENST00000415183.3	37	c.68C>T		.	.	.	.	.	.	.	.	.	.	C	12.76	2.035798	0.35893	.	.	ENSG00000160953	ENST00000344663;ENST00000356765;ENST00000415183	T;T	0.34072	1.38;1.38	5.2	1.58	0.23477	.	0.431802	0.21489	N	0.073707	T	0.34513	0.0900	L	0.55481	1.735	0.18873	N	0.999988	B;D	0.53151	0.319;0.958	B;P	0.47827	0.096;0.558	T	0.17077	-1.0381	10	0.54805	T	0.06	.	5.3598	0.16081	0.349:0.5509:0.0:0.1	.	23;22	B7ZLY8;Q2TAK8	.;MUM1_HUMAN	V	23;49;23	ENSP00000345789:A23V;ENSP00000394925:A23V	ENSP00000345789:A23V	A	+	2	0	MUM1	1308015	0.026000	0.19158	0.128000	0.21923	0.067000	0.16453	0.698000	0.25571	0.185000	0.20105	0.655000	0.94253	GCC		0.368	MUM1-016	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000449510.1	NM_032853		6	340	0	0	0	5.18039e-06	0	6	340				
KIF1B	23095	broad.mit.edu	37	1	10434488	10434488	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr1:10434488C>A	ENST00000377086.1	+	46	5263	c.5061C>A	c.(5059-5061)ctC>ctA	p.L1687L	KIF1B_ENST00000377081.1_Silent_p.L1687L|KIF1B_ENST00000263934.6_Silent_p.L1641L			O60333	KIF1B_HUMAN	kinesin family member 1B	1687					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		ACGAATTTCTCAATCTTGTTC	0.433																																						ENST00000377086.1																			0				breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71						c.(5059-5061)ctC>ctA		kinesin family member 1B							85.0	91.0	89.0					1																	10434488		2203	4300	6503	SO:0001819	synonymous_variant	23095				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	g.chr1:10434488C>A	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.5061C>A	1.37:g.10434488C>A						KIF1B_ENST00000377081.1_Silent_p.L1687L|KIF1B_ENST00000263934.6_Silent_p.L1641L	p.L1687L			O60333	KIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)	46	5263	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	1687					A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Silent	SNP	ENST00000377086.1	37	c.5061C>A																																																																																					0.433	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			14	726	1	0	5.01169e-05	5.01169e-05	0.00532903	14	726				
CBWD6	644019	broad.mit.edu	37	9	69247573	69247573	+	Missense_Mutation	SNP	C	C	T	rs200427376		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr9:69247573C>T	ENST00000377457.5	-	5	544	c.439G>A	c.(439-441)Gct>Act	p.A147T	CBWD6_ENST00000382399.4_Intron|CBWD6_ENST00000377449.1_Missense_Mutation_p.A111T	NM_001085457.1	NP_001078926.1	Q4V339	CBWD6_HUMAN	COBW domain containing 6	147							ATP binding (GO:0005524)			lung(4)	4						AACATAGAAGCCACTGCACGT	0.269																																						ENST00000377457.5																			0				lung(4)	4						c.(439-441)Gct>Act		COBW domain containing 6							21.0	14.0	16.0					9																	69247573		1993	3596	5589	SO:0001583	missense	644019						ATP binding	g.chr9:69247573C>T		CCDS43827.1	9q13	2006-06-30			ENSG00000204790	ENSG00000204790			31978	protein-coding gene	gene with protein product							Standard	NM_001085457		Approved	OTTHUMG00000066820	uc004afj.4	Q4V339	OTTHUMG00000066820	ENST00000377457.5:c.439G>A	9.37:g.69247573C>T	ENSP00000366677:p.Ala147Thr					CBWD6_ENST00000377449.1_Missense_Mutation_p.A111T|CBWD6_ENST00000382399.4_Intron	p.A147T	NM_001085457.1	NP_001078926.1	Q4V339	CBWD6_HUMAN			5	544	-			147						Missense_Mutation	SNP	ENST00000377457.5	37	c.439G>A	CCDS43827.1	.	.	.	.	.	.	.	.	.	.	.	14.66	2.601292	0.46423	.	.	ENSG00000204790	ENST00000377457;ENST00000377450;ENST00000377449;ENST00000377445;ENST00000536466	T;T	0.55588	0.51;0.51	2.63	2.63	0.31362	Cobalamin (vitamin B12) biosynthesis CobW-like (1);	0.000000	0.85682	D	0.000000	T	0.60919	0.2306	M	0.89353	3.025	0.80722	D	1	B	0.26635	0.155	B	0.34873	0.191	T	0.67814	-0.5573	10	0.62326	D	0.03	-29.0935	11.0291	0.47761	0.0:1.0:0.0:0.0	.	147	Q4V339	CBWD6_HUMAN	T	147;147;111;147;147	ENSP00000366677:A147T;ENSP00000366668:A111T	ENSP00000366664:A147T	A	-	1	0	CBWD6	68537393	1.000000	0.71417	1.000000	0.80357	0.402000	0.30811	6.849000	0.75414	1.484000	0.48361	0.184000	0.17185	GCT		0.269	CBWD6-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143172.2	XM_928822		6	138	0	0	0	3.86212e-05	0	6	138				
PLCG2	5336	broad.mit.edu	37	16	81973662	81973662	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr16:81973662C>A	ENST00000359376.3	+	30	3693	c.3479C>A	c.(3478-3480)tCa>tAa	p.S1160*		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	1160					B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						GCAGTCAAATCAGGTAAGAGG	0.408																																						ENST00000359376.3																			0				NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						c.(3478-3480)tCa>tAa		phospholipase C, gamma 2 (phosphatidylinositol-specific)							100.0	94.0	96.0					16																	81973662		1869	4109	5978	SO:0001587	stop_gained	5336				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr16:81973662C>A		CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"""SH2 domain containing"""	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.3479C>A	16.37:g.81973662C>A	ENSP00000352336:p.Ser1160*						p.S1160*	NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN			30	3693	+			1160					D3DUL3|Q3ZTS2|Q59H45|Q969T5	Nonsense_Mutation	SNP	ENST00000359376.3	37	c.3479C>A	CCDS42204.1	.	.	.	.	.	.	.	.	.	.	C	43	10.461882	0.99409	.	.	ENSG00000197943	ENST00000359376	.	.	.	5.51	5.51	0.81932	.	0.065762	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	19.4315	0.94772	0.0:1.0:0.0:0.0	.	.	.	.	X	1160	.	ENSP00000352336:S1160X	S	+	2	0	PLCG2	80531163	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	7.487000	0.81328	2.600000	0.87896	0.655000	0.94253	TCA		0.408	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1			10	611	1	0	3.86212e-05	3.86212e-05	0.00414285	10	611				
IMPG2	50939	broad.mit.edu	37	3	101038452	101038452	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr3:101038452G>T	ENST00000193391.7	-	2	497	c.310C>A	c.(310-312)Cat>Aat	p.H104N		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	104					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	TACTTCACATGATTTGCCACA	0.378																																						ENST00000193391.7																			0				NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(310-312)Cat>Aat		interphotoreceptor matrix proteoglycan 2							144.0	141.0	142.0					3																	101038452		2203	4300	6503	SO:0001583	missense	50939				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity	g.chr3:101038452G>T	AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.310C>A	3.37:g.101038452G>T	ENSP00000193391:p.His104Asn						p.H104N	NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN			2	497	-			104					A8MWT5|Q9UKD4|Q9UKK5	Missense_Mutation	SNP	ENST00000193391.7	37	c.310C>A	CCDS2940.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.195273	0.78902	.	.	ENSG00000081148	ENST00000193391	T	0.77750	-1.12	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.88448	0.6439	M	0.79123	2.44	0.45762	D	0.998658	D	0.76494	0.999	D	0.83275	0.996	D	0.89522	0.3779	10	0.87932	D	0	-13.0185	17.6116	0.88055	0.0:0.0:1.0:0.0	.	104	Q9BZV3	IMPG2_HUMAN	N	104	ENSP00000193391:H104N	ENSP00000193391:H104N	H	-	1	0	IMPG2	102521142	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	7.023000	0.76437	2.590000	0.87494	0.563000	0.77884	CAT		0.378	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3			12	860	1	0	3.45872e-05	3.45872e-05	0.00404903	12	860				
NBPF10	100132406	broad.mit.edu	37	1	145324364	145324364	+	Missense_Mutation	SNP	C	C	G			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr1:145324364C>G	ENST00000342960.5	+	28	3594	c.3559C>G	c.(3559-3561)Ctg>Gtg	p.L1187V	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	774						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CAGGGAGCTGCTGGAGGTAGT	0.502																																						ENST00000342960.5																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(3559-3561)Ctg>Gtg		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145324364C>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.3559C>G	1.37:g.145324364C>G	ENSP00000345684:p.Leu1187Val					NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron	p.L1187V	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	28	3594	+	all_hematologic(923;0.032)		1187					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.3559C>G	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	5.823	0.336119	0.11013	.	.	ENSG00000163386	ENST00000342960	T	0.09163	3.01	.	.	.	.	.	.	.	.	T	0.03915	0.0110	L	0.45228	1.405	0.09310	N	1	.	.	.	.	.	.	T	0.43669	-0.9377	5	0.26408	T	0.33	.	.	.	.	.	.	.	.	V	1187	ENSP00000345684:L1187V	ENSP00000345684:L1187V	L	+	1	2	NBPF10	144035721	0.002000	0.14202	0.012000	0.15200	0.000000	0.00434	-0.650000	0.05378	0.588000	0.29660	0.000000	0.15137	CTG		0.502	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		9	90	0	0	0	6.40141e-05	0	9	90				
TRPM7	54822	broad.mit.edu	37	15	50929637	50929637	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr15:50929637G>T	ENST00000313478.7	-	7	1095	c.814C>A	c.(814-816)Cag>Aag	p.Q272K	TRPM7_ENST00000560955.1_Missense_Mutation_p.Q272K	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	272					actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		ATTCTTTGCTGATTAATAGTT	0.358																																						ENST00000313478.7																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52						c.(814-816)Cag>Aag		transient receptor potential cation channel, subfamily M, member 7							88.0	84.0	85.0					15																	50929637		1853	4089	5942	SO:0001583	missense	54822				cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity	g.chr15:50929637G>T	AF346629	CCDS42035.1, CCDS73725.1	15q21	2011-12-14				ENSG00000092439		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17994	protein-coding gene	gene with protein product		605692				11161216, 11385574, 16382100	Standard	XM_005254486		Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	Q96QT4		ENST00000313478.7:c.814C>A	15.37:g.50929637G>T	ENSP00000320239:p.Gln272Lys					TRPM7_ENST00000560955.1_Missense_Mutation_p.Q272K	p.Q272K	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN		all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)	7	1095	-			272					Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Missense_Mutation	SNP	ENST00000313478.7	37	c.814C>A	CCDS42035.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.696509	0.48202	.	.	ENSG00000092439	ENST00000313478	T	0.61158	0.13	5.36	5.36	0.76844	.	0.199755	0.43416	D	0.000577	T	0.36663	0.0975	N	0.16656	0.425	0.28451	N	0.916321	B	0.22080	0.064	B	0.16289	0.015	T	0.14755	-1.0461	10	0.12103	T	0.63	-1.1516	10.7969	0.46466	0.1448:0.0:0.8552:0.0	.	272	Q96QT4	TRPM7_HUMAN	K	272	ENSP00000320239:Q272K	ENSP00000320239:Q272K	Q	-	1	0	TRPM7	48716929	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.528000	0.60580	2.805000	0.96524	0.650000	0.86243	CAG		0.358	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418604.1	NM_017672		9	497	1	0	6.31663e-08	2.31682e-05	1.33748e-05	9	497				
TRIM25	7706	broad.mit.edu	37	17	54972919	54972919	+	Silent	SNP	C	C	A	rs145816750	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr17:54972919C>A	ENST00000316881.4	-	7	1276	c.1227G>T	c.(1225-1227)ccG>ccT	p.P409P	TRIM25_ENST00000537230.1_Silent_p.P409P	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN	tripartite motif containing 25	409	Interaction with influenza A virus NS1.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral entry into host cell (GO:0046596)|regulation of viral release from host cell (GO:1902186)|response to estrogen (GO:0043627)|response to vitamin D (GO:0033280)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(9;6.15e-08)					CTAACTGTTCCGGGGCTCCAA	0.517																																						ENST00000316881.4																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1225-1227)ccG>ccT		tripartite motif containing 25							129.0	131.0	130.0					17																	54972919		2203	4300	6503	SO:0001819	synonymous_variant	7706				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:54972919C>A	D21205	CCDS11591.1	17q23.1	2013-01-09	2011-01-25	2004-03-30				"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	12932	protein-coding gene	gene with protein product		600453	"""zinc finger protein 147 (estrogen-responsive finger protein)"", ""tripartite motif-containing 25"""	ZNF147		7789997	Standard	NM_005082		Approved	EFP, RNF147	uc002iut.3	Q14258		ENST00000316881.4:c.1227G>T	17.37:g.54972919C>A						TRIM25_ENST00000537230.1_Silent_p.P409P	p.P409P	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN			7	1276	-	Breast(9;6.15e-08)		409			Interaction with influenza A virus NS1.			Silent	SNP	ENST00000316881.4	37	c.1227G>T	CCDS11591.1																																																																																				0.517	TRIM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440609.1	NM_005082		11	697	1	0	6.40141e-05	6.40141e-05	0.00606515	11	697				
DISP1	84976	broad.mit.edu	37	1	223176649	223176649	+	Missense_Mutation	SNP	C	C	T	rs148231227		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr1:223176649C>T	ENST00000284476.6	+	8	2074	c.1910C>T	c.(1909-1911)gCg>gTg	p.A637V		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	637	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)	p.A637V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		GGGGTTTATGCGGGGACAGCT	0.448													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21104	0.0		0.0	False		,,,				2504	0.0					ENST00000284476.6																			1	Substitution - Missense(1)	p.A637V(1)	prostate(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69						c.(1909-1911)gCg>gTg		dispatched homolog 1 (Drosophila)							117.0	107.0	111.0					1																	223176649		2203	4300	6503	SO:0001583	missense	84976				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	g.chr1:223176649C>T	AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.1910C>T	1.37:g.223176649C>T	ENSP00000284476:p.Ala637Val						p.A637V	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN		GBM - Glioblastoma multiforme(131;0.102)	8	2074	+			637			SSD.		Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	ENST00000284476.6	37	c.1910C>T	CCDS1536.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	15.67	2.902435	0.52227	.	.	ENSG00000154309	ENST00000284476	D	0.90900	-2.75	5.91	5.91	0.95273	Sterol-sensing domain (1);	0.000000	0.85682	D	0.000000	D	0.95284	0.8470	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.94353	0.7581	10	0.49607	T	0.09	-33.4464	20.2983	0.98569	0.0:1.0:0.0:0.0	.	637	Q96F81	DISP1_HUMAN	V	637	ENSP00000284476:A637V	ENSP00000284476:A637V	A	+	2	0	DISP1	221243272	1.000000	0.71417	0.564000	0.28396	0.121000	0.20230	7.818000	0.86416	2.802000	0.96397	0.655000	0.94253	GCG		0.448	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890		8	1028	0	0	0	2.17888e-05	0	8	1028				
GGTLC1	92086	broad.mit.edu	37	20	23967157	23967157	+	Missense_Mutation	SNP	A	A	G			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr20:23967157A>G	ENST00000335694.4	-	2	296	c.92T>C	c.(91-93)aTg>aCg	p.M31T	GGTLC1_ENST00000286890.4_Missense_Mutation_p.M31T|GGTLC1_ENST00000278765.4_Missense_Mutation_p.M31T	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	31					glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)	gamma-glutamyltransferase activity (GO:0003840)	p.M31T(6)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						GTCATCCGGCATGTAGAACTC	0.622																																						ENST00000335694.4																			6	Substitution - Missense(6)	p.M31T(6)	lung(4)|NS(2)	NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(91-93)aTg>aCg		gamma-glutamyltransferase light chain 1							67.0	61.0	63.0					20																	23967157		2203	4300	6503	SO:0001583	missense	92086						gamma-glutamyltransferase activity	g.chr20:23967157A>G	AL133466	CCDS13163.1	20p11.21	2010-07-14	2008-03-10	2008-03-10	ENSG00000149435	ENSG00000149435		"""Gamma-glutamyltransferases"""	16437	protein-coding gene	gene with protein product		612338	"""gamma-glutamyltransferase-like activity 4"", ""gamma-glutamyltransferase-like activity 3"""	GGTLA4, GGTLA3		10843999, 18357469	Standard	NM_178311		Approved	dJ831C21.2, dJ831C21.1	uc002wtu.3	Q9BX51	OTTHUMG00000032095	ENST00000335694.4:c.92T>C	20.37:g.23967157A>G	ENSP00000337587:p.Met31Thr					GGTLC1_ENST00000278765.4_Missense_Mutation_p.M31T|GGTLC1_ENST00000286890.4_Missense_Mutation_p.M31T	p.M31T	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN			2	296	-			31					D3DW43|Q08246	Missense_Mutation	SNP	ENST00000335694.4	37	c.92T>C	CCDS13163.1	.	.	.	.	.	.	.	.	.	.	a	0	-2.745202	0.00087	.	.	ENSG00000149435	ENST00000286890;ENST00000278765;ENST00000335694	T;T;T	0.05786	3.39;3.39;3.39	0.844	-1.69	0.08186	.	0.459428	0.22918	N	0.054055	T	0.01092	0.0036	N	0.00332	-1.63	0.20403	N	0.999909	B	0.02656	0.0	B	0.01281	0.0	T	0.28996	-1.0026	10	0.02654	T	1	-29.1837	4.9338	0.13930	0.5039:0.0:0.4961:0.0	.	31	Q9BX51	GGTL1_HUMAN	T	31	ENSP00000286890:M31T;ENSP00000278765:M31T;ENSP00000337587:M31T	ENSP00000278765:M31T	M	-	2	0	GGTLC1	23915157	0.993000	0.37304	0.024000	0.17045	0.024000	0.10985	1.453000	0.35167	-1.885000	0.01118	-1.888000	0.00539	ATG		0.622	GGTLC1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078366.2	NM_178311.2		11	322	0	0	0	6.40141e-05	0	11	322				
SUCLA2	8803	broad.mit.edu	37	13	48570988	48570988	+	Silent	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr13:48570988G>T	ENST00000378654.3	-	2	317	c.261C>A	c.(259-261)gcC>gcA	p.A87A	SUCLA2_ENST00000543413.1_Silent_p.A29A|SUCLA2_ENST00000534875.1_Silent_p.A29A|SUCLA2_ENST00000544100.1_5'UTR|SUCLA2_ENST00000497202.1_5'UTR	NM_003850.2	NP_003841.1	Q9P2R7	SUCB1_HUMAN	succinate-CoA ligase, ADP-forming, beta subunit	87	ATP-grasp.				cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|succinyl-CoA metabolic process (GO:0006104)|succinyl-CoA pathway (GO:0006781)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(4)	15		all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;2.1e-06)	Succinic acid(DB00139)	CTAATTTTTTGGCAATTGCAT	0.368																																						ENST00000378654.3																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(4)	15						c.(259-261)gcC>gcA		succinate-CoA ligase, ADP-forming, beta subunit	Succinic acid(DB00139)						126.0	121.0	123.0					13																	48570988		2203	4300	6503	SO:0001819	synonymous_variant	8803				succinyl-CoA pathway|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity	g.chr13:48570988G>T	AF058953	CCDS9406.1	13q12.2-q13.3	2010-04-16			ENSG00000136143	ENSG00000136143	6.2.1.5		11448	protein-coding gene	gene with protein product		603921				9765291	Standard	NM_003850		Approved		uc001vbs.3	Q9P2R7	OTTHUMG00000016889	ENST00000378654.3:c.261C>A	13.37:g.48570988G>T						SUCLA2_ENST00000543413.1_Silent_p.A29A|SUCLA2_ENST00000544100.1_5'UTR|SUCLA2_ENST00000497202.1_5'UTR|SUCLA2_ENST00000534875.1_Silent_p.A29A	p.A87A	NM_003850.2	NP_003841.1	Q9P2R7	SUCB1_HUMAN		GBM - Glioblastoma multiforme(144;2.1e-06)	2	317	-		all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)	87			ATP-grasp.		B2RDE7|O95194|Q5T9Q4|Q5T9Q6|Q9NV21|Q9NVP7	Silent	SNP	ENST00000378654.3	37	c.261C>A	CCDS9406.1																																																																																				0.368	SUCLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044852.1			9	597	1	0	6.40141e-05	6.40141e-05	0.00606515	9	597				
PPFIA2	8499	broad.mit.edu	37	12	81732982	81732982	+	Missense_Mutation	SNP	T	T	C			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr12:81732982T>C	ENST00000549396.1	-	21	2685	c.2525A>G	c.(2524-2526)gAa>gGa	p.E842G	PPFIA2_ENST00000552948.1_Missense_Mutation_p.E842G|PPFIA2_ENST00000443686.3_Missense_Mutation_p.E743G|PPFIA2_ENST00000550359.2_Missense_Mutation_p.E689G|PPFIA2_ENST00000407050.4_Missense_Mutation_p.E768G|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000549325.1_Missense_Mutation_p.E824G|PPFIA2_ENST00000541017.1_Missense_Mutation_p.E59G|PPFIA2_ENST00000550584.2_Missense_Mutation_p.E842G|PPFIA2_ENST00000541570.2_Missense_Mutation_p.E409G|PPFIA2_ENST00000333447.7_Missense_Mutation_p.E824G|PPFIA2_ENST00000548586.1_Missense_Mutation_p.E842G	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	842					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TCGAGCTTTTTCTTTTTTACC	0.433																																						ENST00000550584.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						c.(2524-2526)gAa>gGa		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2							199.0	195.0	196.0					12																	81732982		1853	4104	5957	SO:0001583	missense	8499							g.chr12:81732982T>C	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.2525A>G	12.37:g.81732982T>C	ENSP00000450337:p.Glu842Gly					PPFIA2_ENST00000443686.3_Missense_Mutation_p.E743G|PPFIA2_ENST00000550359.2_Missense_Mutation_p.E689G|PPFIA2_ENST00000549325.1_Missense_Mutation_p.E824G|PPFIA2_ENST00000549396.1_Missense_Mutation_p.E842G|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000548586.1_Missense_Mutation_p.E842G|PPFIA2_ENST00000407050.4_Missense_Mutation_p.E768G|PPFIA2_ENST00000541017.1_Missense_Mutation_p.E59G|PPFIA2_ENST00000333447.7_Missense_Mutation_p.E824G|PPFIA2_ENST00000541570.2_Missense_Mutation_p.E409G|PPFIA2_ENST00000552948.1_Missense_Mutation_p.E842G	p.E842G	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN			20	2820	-			768					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	ENST00000549396.1	37	c.2525A>G	CCDS55857.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.680892	0.88542	.	.	ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541570;ENST00000541017;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948	T;T;T;T;T;T;T;T;T	0.26957	1.7;1.7;1.7;1.7;1.7;1.7;1.7;1.7;1.7	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.49677	0.1571	M	0.84948	2.725	0.80722	D	1	D	0.63880	0.993	P	0.55923	0.787	T	0.55198	-0.8178	10	0.45353	T	0.12	-17.374	15.8745	0.79151	0.0:0.0:0.0:1.0	.	842	O75334	LIPA2_HUMAN	G	842;824;409;59;768;853;824;842;743;842	ENSP00000450337:E842G;ENSP00000450298:E824G;ENSP00000438337:E409G;ENSP00000445532:E59G;ENSP00000385093:E768G;ENSP00000327416:E824G;ENSP00000449338:E842G;ENSP00000388373:E743G;ENSP00000447868:E842G	ENSP00000327416:E824G	E	-	2	0	PPFIA2	80257113	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	7.937000	0.87672	2.151000	0.67156	0.459000	0.35465	GAA		0.433	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			6	706	0	0	0	5.18039e-06	0	6	706				
FH	2271	broad.mit.edu	37	1	241665755	241665755	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr1:241665755G>T	ENST00000366560.3	-	8	1262	c.1224C>A	c.(1222-1224)ttC>ttA	p.F408L		NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	fumarate hydratase	408					cellular metabolic process (GO:0044237)|fumarate metabolic process (GO:0006106)|homeostasis of number of cells within a tissue (GO:0048873)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|tricarboxylic acid cycle enzyme complex (GO:0045239)	fumarate hydratase activity (GO:0004333)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		TCATTGGCTTGAAAACATTCA	0.393			"""Mis, N, F"""			"""lieomyomatosis, renal"""			Hereditary Leiomyomatosis and Renal Cell Cancer																												Melanoma(148;1573 2486 7381 46575)	ENST00000366560.3			yes	Rec		hereditary leiomyomatosis and renal cell cancer	1	1q42.1	2271	"""Mis, N, F"""	fumarate hydratase			"""E, M"""		"""lieomyomatosis, renal"""			0				biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26						c.(1222-1224)ttC>ttA		fumarate hydratase							69.0	62.0	64.0					1																	241665755		2203	4300	6503	SO:0001583	missense	2271	Hereditary Leiomyomatosis and Renal Cell Cancer	Familial Cancer Database	HLRCC, Reed syndrome, Hereditary Multiple Leiomyomata of Skin and Uterus	fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity	g.chr1:241665755G>T	BC003108	CCDS1617.1	1q42.1	2014-09-17			ENSG00000091483	ENSG00000091483	4.2.1.2		3700	protein-coding gene	gene with protein product		136850					Standard	NM_000143		Approved	fumarase	uc001hyx.3	P07954	OTTHUMG00000039597	ENST00000366560.3:c.1224C>A	1.37:g.241665755G>T	ENSP00000355518:p.Phe408Leu						p.F408L	NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)	8	1262	-	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	408					B1ANK7	Missense_Mutation	SNP	ENST00000366560.3	37	c.1224C>A	CCDS1617.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.099784	0.56183	.	.	ENSG00000091483	ENST00000366560	D	0.90563	-2.69	5.61	2.71	0.32032	L-Aspartase-like (1);	0.000000	0.85682	D	0.000000	D	0.91690	0.7373	M	0.92604	3.325	0.80722	D	1	B	0.33413	0.411	B	0.35312	0.2	D	0.88900	0.3352	10	0.87932	D	0	-28.1888	8.595	0.33710	0.2566:0.0:0.7434:0.0	.	408	P07954	FUMH_HUMAN	L	408	ENSP00000355518:F408L	ENSP00000355518:F408L	F	-	3	2	FH	239732378	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.979000	0.40608	0.311000	0.23014	-0.140000	0.14226	TTC		0.393	FH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095490.1	NM_000143		8	398	1	0	6.40141e-05	6.40141e-05	0.00606515	8	398				
TMF1	7110	broad.mit.edu	37	3	69073265	69073265	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr3:69073265G>T	ENST00000398559.2	-	16	3295	c.3079C>A	c.(3079-3081)Caa>Aaa	p.Q1027K	CTD-2013N24.2_ENST00000597366.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000599467.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|TMF1_ENST00000543976.1_Missense_Mutation_p.Q1030K|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000601511.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|TMF1_ENST00000489370.1_5'Flank|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000595925.1_RNA			P82094	TMF1_HUMAN	TATA element modulatory factor 1	1027					acrosome assembly (GO:0001675)|cellular response to organic cyclic compound (GO:0071407)|defense response to bacterium (GO:0042742)|Leydig cell differentiation (GO:0033327)|luteinizing hormone secretion (GO:0032275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|positive regulation of cytokine production (GO:0001819)|positive regulation of testosterone secretion (GO:2000845)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|sperm motility (GO:0030317)|spermatid nucleus differentiation (GO:0007289)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription cofactor activity (GO:0003712)	p.Q1027E(1)		cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		TCATCATTTTGATTTGTTAAT	0.323																																						ENST00000543976.1																			1	Substitution - Missense(1)	p.Q1027E(1)	cervix(1)	cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(3088-3090)Caa>Aaa		TATA element modulatory factor 1							167.0	154.0	158.0					3																	69073265		1831	4077	5908	SO:0001583	missense	7110				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity	g.chr3:69073265G>T		CCDS43105.1	3p21-p12	2009-02-11			ENSG00000144747	ENSG00000144747			11870	protein-coding gene	gene with protein product		601126				1409643	Standard	NM_007114		Approved	ARA160, TMF	uc003dnn.3	P82094	OTTHUMG00000158771	ENST00000398559.2:c.3079C>A	3.37:g.69073265G>T	ENSP00000381567:p.Gln1027Lys					TMF1_ENST00000398559.2_Missense_Mutation_p.Q1027K|CTD-2013N24.2_ENST00000601511.1_RNA|CTD-2013N24.2_ENST00000599467.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000597366.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000598783.1_RNA	p.Q1030K	NM_007114.2	NP_009045.2	P82094	TMF1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)	16	3334	-		Lung NSC(201;0.0193)|Prostate(884;0.174)	1027					B7ZLJ2|Q17R87|Q59GK0	Missense_Mutation	SNP	ENST00000398559.2	37	c.3088C>A	CCDS43105.1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.033173	0.35893	.	.	ENSG00000144747	ENST00000398559;ENST00000543976;ENST00000356248	D;D	0.83335	-1.71;-1.71	5.59	5.59	0.84812	.	0.211058	0.42964	D	0.000637	T	0.75561	0.3866	L	0.41492	1.28	0.44834	D	0.997846	P;P	0.42871	0.792;0.454	B;B	0.34931	0.173;0.192	T	0.73805	-0.3867	10	0.16896	T	0.51	-16.7561	19.6022	0.95568	0.0:0.0:1.0:0.0	.	1030;1027	P82094-2;P82094	.;TMF1_HUMAN	K	1027;1030;943	ENSP00000381567:Q1027K;ENSP00000438706:Q1030K	ENSP00000348582:Q943K	Q	-	1	0	TMF1	69155955	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.293000	0.78740	2.620000	0.88729	0.557000	0.71058	CAA		0.323	TMF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352106.1	NM_007114		17	748	1	0	8.00594e-06	9.7654e-05	0.00120336	17	748				
ZNF418	147686	broad.mit.edu	37	19	58438709	58438709	+	Silent	SNP	G	G	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr19:58438709G>A	ENST00000396147.1	-	4	1131	c.840C>T	c.(838-840)caC>caT	p.H280H	ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000599086.1_5'Flank|ZNF418_ENST00000425570.3_Silent_p.H301H|ZNF418_ENST00000595830.1_Silent_p.H280H|ZNF418_ENST00000599852.1_Silent_p.H195H	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	280					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		TTTTCCCAGTGTGAACTCGCT	0.433																																						ENST00000396147.1																			0				cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31						c.(838-840)caC>caT		zinc finger protein 418							95.0	98.0	97.0					19																	58438709		2189	4297	6486	SO:0001819	synonymous_variant	147686				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58438709G>A	AB075836, AY695825	CCDS42642.1	19q13.43	2013-01-08				ENSG00000196724		"""Zinc fingers, C2H2-type"", ""-"""	20647	protein-coding gene	gene with protein product						11853319	Standard	NM_133460		Approved	KIAA1956, FLJ31551	uc002qqs.1	Q8TF45		ENST00000396147.1:c.840C>T	19.37:g.58438709G>A						ZNF418_ENST00000595830.1_Silent_p.H280H|ZNF418_ENST00000599852.1_Silent_p.H195H|ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000425570.3_Silent_p.H301H	p.H280H	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)	4	1131	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	280					Q2M1S2|Q670L5|Q96N18	Silent	SNP	ENST00000396147.1	37	c.840C>T	CCDS42642.1																																																																																				0.433	ZNF418-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466693.1	NM_133460		10	794	0	0	0	6.40141e-05	0	10	794				
CKAP5	9793	broad.mit.edu	37	11	46831366	46831366	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr11:46831366C>A	ENST00000529230.1	-	6	735	c.689G>T	c.(688-690)cGa>cTa	p.R230L	CKAP5_ENST00000354558.3_Missense_Mutation_p.R230L|CKAP5_ENST00000415402.1_Missense_Mutation_p.R230L|CKAP5_ENST00000312055.5_Missense_Mutation_p.R230L			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	230					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						ACGAAGAAATCGAGTAGGTCT	0.393																																					Ovarian(4;85 273 2202 4844 13323)	ENST00000529230.1																			0				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(688-690)cGa>cTa		cytoskeleton associated protein 5							173.0	163.0	166.0					11																	46831366		2201	4299	6500	SO:0001583	missense	9793				cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding	g.chr11:46831366C>A		CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.689G>T	11.37:g.46831366C>A	ENSP00000432768:p.Arg230Leu					CKAP5_ENST00000312055.5_Missense_Mutation_p.R230L|CKAP5_ENST00000354558.3_Missense_Mutation_p.R230L|CKAP5_ENST00000415402.1_Missense_Mutation_p.R230L	p.R230L			Q14008	CKAP5_HUMAN			6	735	-			230					Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Missense_Mutation	SNP	ENST00000529230.1	37	c.689G>T	CCDS31477.1	.	.	.	.	.	.	.	.	.	.	C	32	5.149258	0.94645	.	.	ENSG00000175216	ENST00000529230;ENST00000415402;ENST00000312055;ENST00000378629;ENST00000354558	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	5.78	5.78	0.91487	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.74876	0.3774	M	0.86805	2.84	0.80722	D	1	D;B;D	0.76494	0.992;0.288;0.999	D;B;D	0.80764	0.979;0.186;0.994	T	0.78481	-0.2187	10	0.87932	D	0	-18.8626	19.9844	0.97341	0.0:1.0:0.0:0.0	.	230;230;230	Q14008-3;Q14008-2;Q14008	.;.;CKAP5_HUMAN	L	230	ENSP00000432768:R230L;ENSP00000395302:R230L;ENSP00000310227:R230L;ENSP00000346566:R230L	ENSP00000310227:R230L	R	-	2	0	CKAP5	46787942	1.000000	0.71417	0.194000	0.23346	0.820000	0.46376	7.397000	0.79903	2.724000	0.93272	0.650000	0.86243	CGA		0.393	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	NM_014756		10	845	1	0	0.00010058	0.00010058	0.00856336	10	845				
ZNF845	91664	broad.mit.edu	37	19	53856702	53856702	+	Missense_Mutation	SNP	G	G	A	rs200114728	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	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		9	265	0	0	0	3.86212e-05	0	9	265				
TATDN1	83940	broad.mit.edu	37	8	125498200	125498200	+	IGR	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr8:125498200G>T	ENST00000276692.6	-	0	1018				RP11-158K1.3_ENST00000518639.1_RNA|RNF139_ENST00000303545.3_Missense_Mutation_p.D104Y	NM_032026.3	NP_114415.1	Q6P1N9	TATD1_HUMAN	TatD DNase domain containing 1						DNA catabolic process (GO:0006308)	intracellular organelle (GO:0043229)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TTTGCACATTGACTTCTATGG	0.433																																						ENST00000303545.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(1)	20						c.(310-312)Gac>Tac		ring finger protein 139							183.0	156.0	165.0					8																	125498200		2203	4300	6503	SO:0001628	intergenic_variant	11236				negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr8:125498200G>T	AF212250	CCDS6351.1, CCDS55273.1	8q24.13	2004-06-07			ENSG00000147687	ENSG00000147687			24220	protein-coding gene	gene with protein product						12477932	Standard	NM_032026		Approved	CDA11	uc003yrd.2	Q6P1N9	OTTHUMG00000165068		8.37:g.125498200G>T							p.D104Y	NM_007218.3	NP_009149.2	Q8WU17	RN139_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		2	682	+	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		104					B2R5J0|Q8TD02|Q9BY40	Missense_Mutation	SNP	ENST00000276692.6	37	c.310G>T	CCDS6351.1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.808629	0.50421	.	.	ENSG00000170881	ENST00000303545	T	0.26067	1.76	5.06	5.06	0.68205	.	0.102754	0.64402	D	0.000004	T	0.37320	0.0999	L	0.59436	1.845	0.52501	D	0.999959	D	0.61080	0.989	P	0.58077	0.832	T	0.18555	-1.0333	10	0.72032	D	0.01	-14.249	6.8961	0.24257	0.2166:0.0:0.7834:0.0	.	104	Q8WU17	RN139_HUMAN	Y	104	ENSP00000304051:D104Y	ENSP00000304051:D104Y	D	+	1	0	RNF139	125567381	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.790000	0.69038	2.501000	0.84356	0.650000	0.86243	GAC		0.433	TATDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381655.1	NM_032026		15	689	1	0	3.45872e-05	3.45872e-05	0.00404903	15	689				
FBXO7	25793	broad.mit.edu	37	22	32894260	32894260	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr22:32894260C>A	ENST00000266087.7	+	9	1639	c.1312C>A	c.(1312-1314)Cgc>Agc	p.R438S	FBXO7_ENST00000397426.1_Missense_Mutation_p.R324S|FBXO7_ENST00000382058.3_Missense_Mutation_p.R359S	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	438	Important for interaction with CDK6.|Pro-rich.				cell death (GO:0008219)|mitochondrion degradation (GO:0000422)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of lymphocyte differentiation (GO:0045620)|protein targeting to mitochondrion (GO:0006626)|protein ubiquitination (GO:0016567)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCCTAGCTCCCGCCTTCCTCC	0.527																																						ENST00000266087.7																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1312-1314)Cgc>Agc		F-box protein 7							150.0	147.0	148.0					22																	32894260		2203	4300	6503	SO:0001583	missense	25793				cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr22:32894260C>A	AF129537	CCDS13907.1, CCDS58806.1	22q12.3	2013-09-19	2004-06-15		ENSG00000100225	ENSG00000100225		"""F-boxes /  ""other"""", ""Parkinson disease"""	13586	protein-coding gene	gene with protein product		605648	"""F-box only protein 7"""			10531035, 10531037, 19038853	Standard	NM_001257990		Approved	FBX7, Fbx, PARK15	uc003amq.3	Q9Y3I1	OTTHUMG00000030674	ENST00000266087.7:c.1312C>A	22.37:g.32894260C>A	ENSP00000266087:p.Arg438Ser					FBXO7_ENST00000382058.3_Missense_Mutation_p.R359S|FBXO7_ENST00000397426.1_Missense_Mutation_p.R324S	p.R438S	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN			9	1639	+			438					B4DNB3|B4DWX5|Q5TGC4|Q5TI86|Q96HM6|Q9UF21|Q9UKT2	Missense_Mutation	SNP	ENST00000266087.7	37	c.1312C>A	CCDS13907.1	.	.	.	.	.	.	.	.	.	.	C	1.553	-0.538761	0.04053	.	.	ENSG00000100225	ENST00000266087;ENST00000382058;ENST00000397426	T;T;T	0.71817	-0.6;-0.02;-0.02	5.93	1.15	0.20763	F-box domain, Skp2-like (1);	1.008250	0.07943	N	0.979622	T	0.46073	0.1374	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.01281	0.0;0.0;0.0	T	0.29427	-1.0012	10	0.15499	T	0.54	-6.3306	6.6719	0.23074	0.3606:0.4872:0.0:0.1522	.	438;359;438	A8K7F7;Q9Y3I1-2;Q9Y3I1	.;.;FBX7_HUMAN	S	438;359;324	ENSP00000266087:R438S;ENSP00000371490:R359S;ENSP00000380571:R324S	ENSP00000266087:R438S	R	+	1	0	FBXO7	31224260	0.053000	0.20554	0.217000	0.23759	0.865000	0.49528	0.317000	0.19487	0.812000	0.34326	0.655000	0.94253	CGC		0.527	FBXO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129001.1			7	594	1	0	8.12818e-05	8.12818e-05	0.00746873	7	594				
ZNF709	163051	broad.mit.edu	37	19	12575380	12575380	+	Silent	SNP	C	C	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr19:12575380C>T	ENST00000397732.3	-	4	1527	c.1356G>A	c.(1354-1356)caG>caA	p.Q452Q	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Silent_p.Q452Q	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	452					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|upper_aerodigestive_tract(3)	6						CTTTACCACACTGTTTACATT	0.403																																					GBM(33;565 669 12371 29134 51667)	ENST00000397732.3																			0				large_intestine(3)|upper_aerodigestive_tract(3)	6						c.(1354-1356)caG>caA		zinc finger protein 709							102.0	108.0	106.0					19																	12575380		2203	4296	6499	SO:0001819	synonymous_variant	163051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12575380C>T	AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"""Zinc fingers, C2H2-type"", ""-"""	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.1356G>A	19.37:g.12575380C>T						ZNF709_ENST00000428311.1_Silent_p.Q452Q|CTD-3105H18.18_ENST00000598753.1_Intron	p.Q452Q	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN			4	1527	-			452					A8K4E6	Silent	SNP	ENST00000397732.3	37	c.1356G>A	CCDS42504.1																																																																																				0.403	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601		10	1022	0	0	0	6.40141e-05	0	10	1022				
TUBB8P7	197331	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr16:90162513T>C	ENST00000564451.1	+	0	1866				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537																																						ENST00000567960.1																			2	Substitution - coding silent(2)	p.N415N(2)	prostate(1)|kidney(1)																																																0							g.chr16:90162513T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162513T>C						TUBB8P7_ENST00000564451.1_RNA								0	1249	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.537	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		13	578	0	0	0	1.49906e-05	0	13	578				
KEL	3792	broad.mit.edu	37	7	142650939	142650939	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr7:142650939C>A	ENST00000355265.2	-	9	1503	c.1029G>T	c.(1027-1029)ttG>ttT	p.L343F	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	343					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					ACATGTTTTTCAAATATTCCA	0.557																																						ENST00000355265.2																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60						c.(1027-1029)ttG>ttT		Kell blood group, metallo-endopeptidase							222.0	222.0	222.0					7																	142650939		2203	4300	6503	SO:0001583	missense	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142650939C>A	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"""CD molecules"", ""Blood group antigens"""	6308	protein-coding gene	gene with protein product		613883	"""Kell blood group"", ""Kell blood group, metalloendopeptidase"""			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.1029G>T	7.37:g.142650939C>A	ENSP00000347409:p.Leu343Phe					KEL_ENST00000479768.2_5'UTR	p.L343F	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN			9	1503	-	Melanoma(164;0.059)		343					B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	ENST00000355265.2	37	c.1029G>T	CCDS34766.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.963308	0.53507	.	.	ENSG00000197993	ENST00000355265	T	0.76186	-1.0	5.78	2.87	0.33458	Peptidase M13 (1);	0.646012	0.13373	N	0.392767	T	0.78509	0.4294	M	0.79258	2.445	0.33148	D	0.545267	P	0.47841	0.901	P	0.53401	0.725	T	0.78868	-0.2034	10	0.31617	T	0.26	-8.148	5.8491	0.18683	0.1578:0.6713:0.0:0.1709	.	343	P23276	KELL_HUMAN	F	343	ENSP00000347409:L343F	ENSP00000347409:L343F	L	-	3	2	KEL	142361061	1.000000	0.71417	0.995000	0.50966	0.900000	0.52787	1.388000	0.34442	1.469000	0.48083	0.478000	0.44815	TTG		0.557	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		16	1216	1	0	2.31682e-05	2.31682e-05	0.00284922	16	1216				
EGF	1950	broad.mit.edu	37	4	110885582	110885582	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr4:110885582C>A	ENST00000265171.5	+	10	1909	c.1464C>A	c.(1462-1464)gcC>gcA	p.A488A	EGF_ENST00000503392.1_Silent_p.A488A|EGF_ENST00000509793.1_Silent_p.A446A	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	488					activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	TGCTGTTTGCCAATTCTCAAG	0.418																																						ENST00000265171.5																			0				breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(1462-1464)gcC>gcA		epidermal growth factor	Sulindac(DB00605)						208.0	191.0	197.0					4																	110885582		2203	4300	6503	SO:0001819	synonymous_variant	1950				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr4:110885582C>A	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"""epidermal growth factor (beta-urogastrone)"""				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.1464C>A	4.37:g.110885582C>A						EGF_ENST00000503392.1_Silent_p.A488A|EGF_ENST00000509793.1_Silent_p.A446A	p.A488A	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	10	1909	+		Hepatocellular(203;0.0893)	488					B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Silent	SNP	ENST00000265171.5	37	c.1464C>A	CCDS3689.1																																																																																				0.418	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1			10	839	1	0	5.50884e-06	0.00010058	0.000838376	10	839				
TBC1D3	729873	broad.mit.edu	37	17	36358981	36358981	+	5'Flank	SNP	C	C	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr17:36358981C>T	ENST00000537432.1	-	0	0				RP11-1407O15.2_ENST00000544906.1_Missense_Mutation_p.R82H|RP11-1407O15.2_ENST00000312412.4_Missense_Mutation_p.R237H			Q8IZP1	TBC3A_HUMAN	TBC1 domain family, member 3							plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			breast(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5	Breast(7;2.97e-12)	Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AACAGGTGTGCGGGCAAACTT	0.353																																						ENST00000312412.4																			0				kidney(1)|lung(3)	4						c.(709-711)cGc>cAc																																						SO:0001631	upstream_gene_variant	0							g.chr17:36358981C>T		CCDS45658.1	17q12	2014-09-16			ENSG00000274611	ENSG00000274419			19031	protein-coding gene	gene with protein product	"""prostate cancer gene 17"""	607741				12604796, 12359748, 16863688	Standard	NM_001123391		Approved	TBC1D3A, DKFZp434P2235, PRC17	uc002hoo.2	Q8IZP1	OTTHUMG00000188487		17.37:g.36358981C>T	Exception_encountered					RP11-1407O15.2_ENST00000544906.1_Missense_Mutation_p.R82H	p.R237H							6	709	-								A6NGX2|A8K007|Q6DCB4|Q9H0B9|Q9UDD4	Missense_Mutation	SNP	ENST00000537432.1	37	c.710G>A	CCDS45658.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.973656	0.53720	.	.	ENSG00000174093	ENST00000544906;ENST00000520237;ENST00000312412;ENST00000518004	T;T;T;T	0.02763	4.17;4.17;4.17;4.17	2.51	2.51	0.30379	.	.	.	.	.	T	0.07954	0.0199	.	.	.	.	.	.	.	.	.	.	.	.	T	0.17899	-1.0354	5	0.56958	D	0.05	.	13.0172	0.58764	0.0:1.0:0.0:0.0	.	.	.	.	H	82;237;237;233	ENSP00000444117:R82H;ENSP00000428261:R237H;ENSP00000308540:R237H;ENSP00000428330:R233H	ENSP00000308540:R237H	R	-	2	0	RP11-1407O15.2	33612772	1.000000	0.71417	0.997000	0.53966	0.709000	0.40893	5.030000	0.64128	1.394000	0.46624	0.194000	0.17425	CGC		0.353	TBC1D3-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001123391		10	1871	0	0	0	8.12818e-05	0	10	1871				
TACC2	10579	broad.mit.edu	37	10	123976332	123976332	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr10:123976332C>A	ENST00000369005.1	+	11	7875	c.7535C>A	c.(7534-7536)tCa>tAa	p.S2512*	TACC2_ENST00000360561.3_Nonsense_Mutation_p.S590*|TACC2_ENST00000453444.2_Nonsense_Mutation_p.S2516*|TACC2_ENST00000368999.1_Nonsense_Mutation_p.S602*|TACC2_ENST00000369001.1_Nonsense_Mutation_p.S216*|TACC2_ENST00000334433.3_Nonsense_Mutation_p.S2512*|TACC2_ENST00000515603.1_Nonsense_Mutation_p.S2467*|TACC2_ENST00000515273.1_Nonsense_Mutation_p.S2516*|TACC2_ENST00000358010.1_Nonsense_Mutation_p.S658*|TACC2_ENST00000369000.1_Nonsense_Mutation_p.S212*|TACC2_ENST00000260733.3_Nonsense_Mutation_p.S590*|TACC2_ENST00000513429.1_Nonsense_Mutation_p.S658*|TACC2_ENST00000369004.3_Nonsense_Mutation_p.S602*	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2512					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AAATTCAGTTCACCCACTGAG	0.562																																						ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(7534-7536)tCa>tAa		transforming, acidic coiled-coil containing protein 2							133.0	112.0	119.0					10																	123976332		2203	4300	6503	SO:0001587	stop_gained	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123976332C>A	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.7535C>A	10.37:g.123976332C>A	ENSP00000358001:p.Ser2512*					TACC2_ENST00000369001.1_Nonsense_Mutation_p.S216*|TACC2_ENST00000360561.3_Nonsense_Mutation_p.S590*|TACC2_ENST00000358010.1_Nonsense_Mutation_p.S658*|TACC2_ENST00000260733.3_Nonsense_Mutation_p.S590*|TACC2_ENST00000515603.1_Nonsense_Mutation_p.S2467*|TACC2_ENST00000453444.2_Nonsense_Mutation_p.S2516*|TACC2_ENST00000513429.1_Nonsense_Mutation_p.S658*|TACC2_ENST00000368999.1_Nonsense_Mutation_p.S602*|TACC2_ENST00000334433.3_Nonsense_Mutation_p.S2512*|TACC2_ENST00000515273.1_Nonsense_Mutation_p.S2516*|TACC2_ENST00000369004.3_Nonsense_Mutation_p.S602*|TACC2_ENST00000369000.1_Nonsense_Mutation_p.S212*	p.S2512*	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			11	7875	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	2512					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Nonsense_Mutation	SNP	ENST00000369005.1	37	c.7535C>A	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	C	41	8.660008	0.98903	.	.	ENSG00000138162	ENST00000369005;ENST00000513429;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000358010;ENST00000453444;ENST00000340076;ENST00000369001;ENST00000369000;ENST00000360561;ENST00000368999;ENST00000369004;ENST00000260733;ENST00000514539;ENST00000496913;ENST00000508411	.	.	.	5.64	5.64	0.86602	.	0.000000	0.30356	N	0.009802	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.0877	19.7186	0.96134	0.0:1.0:0.0:0.0	.	.	.	.	X	2512;658;2516;2467;2512;658;2516;2502;216;212;590;602;602;590;607;247;92	.	ENSP00000260733:S590X	S	+	2	0	TACC2	123966322	1.000000	0.71417	0.273000	0.24645	0.801000	0.45260	4.972000	0.63756	2.659000	0.90383	0.655000	0.94253	TCA		0.562	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			11	429	1	0	0.00010058	0.00010058	0.00856336	11	429				
ZNF616	90317	broad.mit.edu	37	19	52618196	52618196	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr19:52618196C>A	ENST00000600228.1	-	4	2482	c.2221G>T	c.(2221-2223)Ggc>Tgc	p.G741C	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	741					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)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		GGTTTTTTGCCAGAATGAATT	0.403																																						ENST00000600228.1																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(2221-2223)Ggc>Tgc		zinc finger protein 616							119.0	122.0	121.0					19																	52618196		2203	4300	6503	SO:0001583	missense	90317				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52618196C>A	AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611		"""Zinc fingers, C2H2-type"", ""-"""	28062	protein-coding gene	gene with protein product							Standard	NM_178523		Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.2221G>T	19.37:g.52618196C>A	ENSP00000471000:p.Gly741Cys					ZNF616_ENST00000330123.5_3'UTR	p.G741C	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN		GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)	4	2482	-			741					B3KRV1|Q0P658|Q658V7	Missense_Mutation	SNP	ENST00000600228.1	37	c.2221G>T	CCDS33090.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.345951	0.41599	.	.	ENSG00000204611	ENST00000330123	.	.	.	2.04	2.04	0.26737	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.76644	0.4016	M	0.93241	3.395	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.63950	-0.6521	8	0.72032	D	0.01	.	9.6957	0.40156	0.0:1.0:0.0:0.0	.	741	Q08AN1	ZN616_HUMAN	C	741	.	ENSP00000328722:G741C	G	-	1	0	ZNF616	57310008	0.000000	0.05858	0.008000	0.14137	0.172000	0.22775	-0.321000	0.08018	1.116000	0.41820	0.484000	0.47621	GGC		0.403	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462451.1	XM_030892		8	706	1	0	3.07112e-06	6.40141e-05	0.000526632	8	706				
ZNF462	58499	broad.mit.edu	37	9	109688806	109688806	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr9:109688806C>A	ENST00000277225.5	+	3	2902	c.2613C>A	c.(2611-2613)ttC>ttA	p.F871L	ZNF462_ENST00000457913.1_Missense_Mutation_p.F871L|ZNF462_ENST00000441147.2_5'Flank			Q96JM2	ZN462_HUMAN	zinc finger protein 462	871					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						ACATTAAATTCAGCTTTAGGT	0.443																																						ENST00000277225.5																			0				NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(2611-2613)ttC>ttA		zinc finger protein 462							169.0	151.0	157.0					9																	109688806		2203	4300	6503	SO:0001583	missense	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109688806C>A	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.2613C>A	9.37:g.109688806C>A	ENSP00000277225:p.Phe871Leu					ZNF462_ENST00000457913.1_Missense_Mutation_p.F871L	p.F871L			Q96JM2	ZN462_HUMAN			3	2902	+			871					Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	c.2613C>A	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	C	17.66	3.443804	0.63067	.	.	ENSG00000148143	ENST00000277225;ENST00000457913	T;T	0.11385	2.78;3.18	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.14356	0.0347	N	0.08118	0	0.80722	D	1	D;D	0.63880	0.992;0.993	D;D	0.74674	0.984;0.956	T	0.33445	-0.9868	9	.	.	.	.	13.2624	0.60113	0.0:0.9279:0.0:0.072	.	871;871	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	L	871	ENSP00000277225:F871L;ENSP00000414570:F871L	.	F	+	3	2	ZNF462	108728627	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.499000	0.35671	2.731000	0.93534	0.650000	0.86243	TTC		0.443	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		19	845	1	0	3.45872e-05	3.45872e-05	0.00404903	19	845				
SPTY2D1	144108	broad.mit.edu	37	11	18636809	18636809	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr11:18636809C>A	ENST00000336349.5	-	3	1247	c.1012G>T	c.(1012-1014)Gag>Tag	p.E338*	SPTY2D1_ENST00000543776.1_5'Flank	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	338	Ser-rich.									breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						GCTTTGTGCTCAACAGCAGAT	0.512																																						ENST00000336349.5																			0				breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						c.(1012-1014)Gag>Tag		SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)							117.0	130.0	126.0					11																	18636809		2199	4293	6492	SO:0001587	stop_gained	144108							g.chr11:18636809C>A	BX647798	CCDS31441.1	11p15.1	2005-10-28			ENSG00000179119	ENSG00000179119			26818	protein-coding gene	gene with protein product							Standard	NM_194285		Approved	FLJ39441, DKFZp686I068	uc001moy.3	Q68D10	OTTHUMG00000167733	ENST00000336349.5:c.1012G>T	11.37:g.18636809C>A	ENSP00000337991:p.Glu338*						p.E338*	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN			3	1247	-			338			Ser-rich.		Q6AWA5|Q6MZI5|Q7Z390|Q7Z470|Q86VG8|Q8N3E7|Q8N417|Q8N8I3	Nonsense_Mutation	SNP	ENST00000336349.5	37	c.1012G>T	CCDS31441.1	.	.	.	.	.	.	.	.	.	.	C	34	5.326405	0.95708	.	.	ENSG00000179119	ENST00000336349	.	.	.	5.84	5.84	0.93424	.	0.272640	0.36815	N	0.002396	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	-18.4727	18.3021	0.90167	0.0:1.0:0.0:0.0	.	.	.	.	X	338	.	ENSP00000337991:E338X	E	-	1	0	SPTY2D1	18593385	1.000000	0.71417	1.000000	0.80357	0.665000	0.39181	2.734000	0.47368	2.762000	0.94881	0.563000	0.77884	GAG		0.512	SPTY2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395941.1	NM_194285		17	805	1	0	5.3912e-06	7.07596e-05	0.000838376	17	805				
TPTE2P2	644623	broad.mit.edu	37	13	52864028	52864028	+	RNA	SNP	C	C	T	rs200454029	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr13:52864028C>T	ENST00000451298.1	-	0	141																											TAGAATGATACTCCAAAGGAA	0.313																																						ENST00000451298.1																			0																																																			0							g.chr13:52864028C>T																													13.37:g.52864028C>T						RP11-64P12.8_ENST00000606031.1_RNA								0	141	-									RNA	SNP	ENST00000451298.1	37																																																																																						0.313	RP11-248G5.8-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000471093.1			6	229	0	0	0	6.40141e-05	0	6	229				
ZNF780A	284323	broad.mit.edu	37	19	40580666	40580666	+	Silent	SNP	T	T	C			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr19:40580666T>C	ENST00000595687.2	-	6	1892	c.1683A>G	c.(1681-1683)gaA>gaG	p.E561E	ZNF780A_ENST00000594395.1_Silent_p.E562E|ZNF780A_ENST00000340963.5_Silent_p.E561E|ZNF780A_ENST00000455521.1_Silent_p.E562E|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000450241.2_Silent_p.E527E|ZNF780A_ENST00000414720.2_Intron	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	561					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)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CTTTCCCACATTCCTTACATT	0.388																																						ENST00000450241.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31						c.(1579-1581)gaA>gaG		zinc finger protein 780A							130.0	132.0	131.0					19																	40580666		2203	4300	6503	SO:0001819	synonymous_variant	284323				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40580666T>C	AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"""Zinc fingers, C2H2-type"", ""-"""	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.1683A>G	19.37:g.40580666T>C						ZNF780A_ENST00000455521.1_Silent_p.E562E|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000340963.5_Silent_p.E561E|ZNF780A_ENST00000595687.2_Silent_p.E561E|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000594395.1_Silent_p.E562E	p.E527E			O75290	Z780A_HUMAN			6	1892	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		561					E9PB48|Q6ZN87	Silent	SNP	ENST00000595687.2	37	c.1581A>G	CCDS33026.2																																																																																				0.388	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000470066.1	NM_001010880		6	944	0	0	0	5.18039e-06	0	6	944				
MLLT4	4301	broad.mit.edu	37	6	168226889	168226889	+	5'Flank	SNP	G	G	A	rs550884620		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr6:168226889G>A	ENST00000447894.2	+	0	0				MLLT4_ENST00000351017.4_5'Flank|MLLT4_ENST00000400822.3_5'Flank|MLLT4_ENST00000344191.4_5'Flank|MLLT4-AS1_ENST00000359760.5_RNA|MLLT4_ENST00000392108.3_5'Flank|MLLT4_ENST00000366806.2_5'Flank|MLLT4_ENST00000392112.1_5'Flank			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4						adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		ACCCGGACCCGCCAGTCCGGA	0.687			T	MLL	AL																																	ENST00000359760.5				Dom	yes		6	6q27	4301		"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""			L					0																				65.0	89.0	81.0					6																	168226889		1964	4108	6072	SO:0001631	upstream_gene_variant	0							g.chr6:168226889G>A	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031		6.37:g.168226889G>A	Exception_encountered							NR_027906.1						0	500	-								O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	RNA	SNP	ENST00000447894.2	37																																																																																						0.687	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		6	361	0	0	0	5.18039e-06	0	6	361				
FLNC	2318	broad.mit.edu	37	7	128491395	128491395	+	Silent	SNP	C	C	G			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr7:128491395C>G	ENST00000325888.8	+	34	5910	c.5649C>G	c.(5647-5649)gtC>gtG	p.V1883V	FLNC_ENST00000346177.6_Silent_p.V1850V|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1883					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TCACTATTGTCACCAAAGATG	0.587																																						ENST00000325888.8																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(5647-5649)gtC>gtG		filamin C, gamma							55.0	59.0	57.0					7																	128491395		2141	4263	6404	SO:0001819	synonymous_variant	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128491395C>G	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.5649C>G	7.37:g.128491395C>G						FLNC_ENST00000346177.6_Silent_p.V1850V|RP11-309L24.2_ENST00000469965.1_RNA	p.V1883V	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			34	5910	+			1883					B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Silent	SNP	ENST00000325888.8	37	c.5649C>G	CCDS43644.1																																																																																				0.587	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			5	291	0	0	0	1.23904e-05	0	5	291				
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs571530750	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr6:26422353C>T	ENST00000466808.2	+	0	7							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622													C|||	7	0.00139776	0.0023	0.0	5008	,	,		16376	0.001		0.0	False		,,,				2504	0.0031					ENST00000466808.2																			2	Substitution - Missense(2)	p.P3S(2)	endometrium(1)|kidney(1)																																																0							g.chr6:26422353C>T	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26422353C>T														0	7	+								A6NEF4	RNA	SNP	ENST00000466808.2	37																																																																																						0.622	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		7	332	0	0	0	5.18039e-06	0	7	332				
SEC23B	10483	broad.mit.edu	37	20	18492924	18492924	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr20:18492924C>A	ENST00000336714.3	+	3	709	c.277C>A	c.(277-279)Cag>Aag	p.Q93K	SEC23B_ENST00000262544.2_Missense_Mutation_p.Q93K|SEC23B_ENST00000377475.3_Missense_Mutation_p.Q93K|SEC23B_ENST00000377465.1_Missense_Mutation_p.Q93K|SEC23B_ENST00000494645.1_3'UTR	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	93					ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						TCAAAGAAATCAGGTATGTGa	0.269																																						ENST00000336714.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						c.(277-279)Cag>Aag		Sec23 homolog B (S. cerevisiae)							25.0	27.0	26.0					20																	18492924		2198	4276	6474	SO:0001583	missense	10483				ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding	g.chr20:18492924C>A	X97065	CCDS13137.1	20p11.23	2010-02-09	2001-11-28		ENSG00000101310	ENSG00000101310			10702	protein-coding gene	gene with protein product		610512	"""Sec23 (S. cerevisiae) homolog B"", ""congenital dyserythropoietic anemia, type II"""	CDAN2		8898360, 10329445, 19621418	Standard	NM_032985		Approved	CDA-II, CDAII, HEMPAS	uc002wrb.2	Q15437	OTTHUMG00000031976	ENST00000336714.3:c.277C>A	20.37:g.18492924C>A	ENSP00000338844:p.Gln93Lys					SEC23B_ENST00000377465.1_Missense_Mutation_p.Q93K|SEC23B_ENST00000377475.3_Missense_Mutation_p.Q93K|SEC23B_ENST00000494645.1_3'UTR|SEC23B_ENST00000262544.2_Missense_Mutation_p.Q93K	p.Q93K	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN			3	709	+			93					D3DW33|Q503A9|Q5W183|Q9BS15|Q9BSI2|Q9H1D7	Missense_Mutation	SNP	ENST00000336714.3	37	c.277C>A	CCDS13137.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.058618	0.55325	.	.	ENSG00000101310	ENST00000450074;ENST00000336714;ENST00000262544;ENST00000377475;ENST00000377465	T;T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02;-1.02	5.33	5.33	0.75918	Zinc finger, Sec23/Sec24-type (2);	0.180852	0.49305	D	0.000141	T	0.70996	0.3288	L	0.31664	0.95	0.44424	D	0.997344	B;B	0.23990	0.095;0.023	B;B	0.29440	0.102;0.102	T	0.65857	-0.6066	10	0.36615	T	0.2	-14.7116	18.1847	0.89789	0.0:1.0:0.0:0.0	.	93;93	B4DJW8;Q15437	.;SC23B_HUMAN	K	93	ENSP00000403971:Q93K;ENSP00000338844:Q93K;ENSP00000262544:Q93K;ENSP00000366695:Q93K;ENSP00000366685:Q93K	ENSP00000262544:Q93K	Q	+	1	0	SEC23B	18440924	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.783000	0.68982	2.768000	0.95171	0.655000	0.94253	CAG		0.269	SEC23B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078184.5			9	526	1	0	2.17888e-05	2.17888e-05	0.002749	9	526				
CTCFL	140690	broad.mit.edu	37	20	56094287	56094287	+	Missense_Mutation	SNP	G	G	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr20:56094287G>A	ENST00000608263.1	-	3	1562	c.901C>T	c.(901-903)Cgg>Tgg	p.R301W	CTCFL_ENST00000433949.3_Missense_Mutation_p.R96W|CTCFL_ENST00000609232.1_Missense_Mutation_p.R301W|CTCFL_ENST00000502686.2_Missense_Mutation_p.R39W|CTCFL_ENST00000481655.2_Missense_Mutation_p.R301W|CTCFL_ENST00000422869.2_Missense_Mutation_p.R301W|CTCFL_ENST00000423479.3_Missense_Mutation_p.R301W|CTCFL_ENST00000608440.1_Missense_Mutation_p.R301W|CTCFL_ENST00000608903.1_Missense_Mutation_p.R39W|CTCFL_ENST00000429804.3_Missense_Mutation_p.R301W|CTCFL_ENST00000432255.2_Missense_Mutation_p.R301W|CTCFL_ENST00000608858.1_5'UTR|CTCFL_ENST00000243914.3_Missense_Mutation_p.R301W|CTCFL_ENST00000371196.2_Missense_Mutation_p.R301W|CTCFL_ENST00000608158.1_Missense_Mutation_p.R301W|CTCFL_ENST00000539382.1_Missense_Mutation_p.R96W|CTCFL_ENST00000608425.1_Missense_Mutation_p.R301W	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	301					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|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)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			ACATGGTTCCGCAGCAGAGTG	0.453																																						ENST00000426658.2																			0				NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(901-903)Cgg>Tgg		CCCTC-binding factor (zinc finger protein)-like							95.0	95.0	95.0					20																	56094287		2203	4300	6503	SO:0001583	missense	140690				cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr20:56094287G>A		CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"""Zinc fingers, C2H2-type"""	16234	protein-coding gene	gene with protein product	"""cancer/testis antigen 27"""	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.901C>T	20.37:g.56094287G>A	ENSP00000476783:p.Arg301Trp					CTCFL_ENST00000422869.2_Missense_Mutation_p.R301W|CTCFL_ENST00000502686.2_Missense_Mutation_p.R39W|CTCFL_ENST00000539382.1_Missense_Mutation_p.R96W|CTCFL_ENST00000429804.2_Missense_Mutation_p.R301W|CTCFL_ENST00000433949.2_Missense_Mutation_p.R301W|CTCFL_ENST00000243914.3_Missense_Mutation_p.R301W|CTCFL_ENST00000371196.2_Missense_Mutation_p.R301W|CTCFL_ENST00000422109.2_Missense_Mutation_p.R301W|CTCFL_ENST00000481655.1_5'UTR|CTCFL_ENST00000423479.2_Missense_Mutation_p.R301W|CTCFL_ENST00000432255.2_Missense_Mutation_p.R301W	p.R301W			Q8NI51	CTCFL_HUMAN	BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)		3	1562	-	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		301					A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Missense_Mutation	SNP	ENST00000608263.1	37	c.901C>T	CCDS13459.1	.	.	.	.	.	.	.	.	.	.	G	13.44	2.238725	0.39598	.	.	ENSG00000124092	ENST00000423479;ENST00000243914;ENST00000371196;ENST00000429804;ENST00000433949;ENST00000502686;ENST00000422109;ENST00000426658;ENST00000432255;ENST00000539382;ENST00000422869	T;T;T;T;T;T;T;T;T;T;T	0.08282	3.11;3.11;3.11;3.11;3.11;3.11;3.11;3.11;3.11;3.11;3.11	5.25	0.582	0.17412	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.40554	N	0.001079	T	0.25531	0.0621	M	0.69523	2.12	0.38434	D	0.946527	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;0.995;1.0;1.0;1.0;1.0;1.0	T	0.10847	-1.0612	10	0.72032	D	0.01	-42.7671	14.3281	0.66534	0.0:0.0:0.3805:0.6195	.	301;301;301;301;301;301;301;301	A6XGM3;A6XGM0;A6XGM9;A6XGM8;A6XGM2;E7EUE3;A6XGL8;Q8NI51	.;.;.;.;.;.;.;CTCFL_HUMAN	W	301;301;301;301;301;39;301;301;301;96;301	ENSP00000415579:R301W;ENSP00000243914:R301W;ENSP00000360239:R301W;ENSP00000415329:R301W;ENSP00000392034:R301W;ENSP00000437999:R39W;ENSP00000413713:R301W;ENSP00000403369:R301W;ENSP00000409344:R301W;ENSP00000439998:R96W;ENSP00000399061:R301W	ENSP00000243914:R301W	R	-	1	2	CTCFL	55527693	0.611000	0.26992	0.073000	0.20177	0.072000	0.16883	0.855000	0.27805	0.255000	0.21593	-0.293000	0.09583	CGG		0.453	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1	NM_080618		6	493	0	0	0	8.12818e-05	0	6	493				
C21orf59	56683	broad.mit.edu	37	21	33982250	33982250	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr21:33982250G>T	ENST00000290155.3	-	2	827	c.205C>A	c.(205-207)Cag>Aag	p.Q69K	C21orf59_ENST00000540881.1_Intron|AP000275.65_ENST00000553001.1_Missense_Mutation_p.Q69K|C21orf59_ENST00000382549.4_Missense_Mutation_p.Q69K	NM_021254.2	NP_067077.1	P57076	CU059_HUMAN	chromosome 21 open reading frame 59	69						cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|large_intestine(1)|prostate(1)|skin(1)	5						TCTTCAATCTGATCATCGGTC	0.393																																						ENST00000382549.4																			0				endometrium(2)|large_intestine(1)|prostate(1)|skin(1)	5						c.(205-207)Cag>Aag		chromosome 21 open reading frame 59							131.0	116.0	121.0					21																	33982250		2203	4300	6503	SO:0001583	missense	56683					cytosol|nucleus		g.chr21:33982250G>T	AF282851	CCDS13617.1	21q22.11	2014-02-03	2003-07-22		ENSG00000159079	ENSG00000159079			1301	protein-coding gene	gene with protein product		615494	"""chromosome 21 open reading frame 48"""	C21orf48		24094744	Standard	NM_021254		Approved	FLJ20467, FBB18, CILD26	uc002yqc.3	P57076	OTTHUMG00000179510	ENST00000290155.3:c.205C>A	21.37:g.33982250G>T	ENSP00000290155:p.Gln69Lys					C21ORF59_ENST00000607686.1_Missense_Mutation_p.Q69K|C21orf59_ENST00000540881.1_Intron|C21orf59_ENST00000290155.3_Missense_Mutation_p.Q69K	p.Q69K			P57076	CU059_HUMAN			2	547	-			69					Q53FH0	Missense_Mutation	SNP	ENST00000290155.3	37	c.205C>A	CCDS13617.1	.	.	.	.	.	.	.	.	.	.	G	20.0	3.930476	0.73327	.	.	ENSG00000159079	ENST00000553001;ENST00000440966;ENST00000382549;ENST00000290155;ENST00000543202;ENST00000458138	.	.	.	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.79476	0.4452	M	0.91872	3.25	0.80722	D	1	B;B;B;B	0.26081	0.141;0.043;0.007;0.012	B;B;B;B	0.29524	0.08;0.103;0.012;0.012	T	0.80569	-0.1324	9	0.59425	D	0.04	-21.6651	18.8173	0.92081	0.0:0.0:1.0:0.0	.	69;69;69;69	C9J818;P57076;D3DSE6;Q96NJ2	.;CU059_HUMAN;.;.	K	69;69;69;69;69;52	.	ENSP00000290155:Q69K	Q	-	1	0	C21orf59	32904121	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.536000	0.98067	2.746000	0.94184	0.655000	0.94253	CAG		0.393	C21orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139431.1	NM_021254		11	336	1	0	6.40141e-05	6.40141e-05	0.00606515	11	336				
ZNF557	79230	broad.mit.edu	37	19	7082034	7082034	+	Silent	SNP	C	C	A	rs201136508		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr19:7082034C>A	ENST00000439035.2	+	7	616	c.376C>A	c.(376-378)Cga>Aga	p.R126R	ZNF557_ENST00000252840.6_Silent_p.R133R|ZNF557_ENST00000414706.1_Silent_p.R133R			Q8N988	ZN557_HUMAN	zinc finger protein 557	126					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(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		GCATGTTTTTCGAAAAGAACA	0.348																																						ENST00000414706.1																			0				endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17						c.(397-399)Cga>Aga		zinc finger protein 557							82.0	81.0	82.0					19																	7082034		1864	4136	6000	SO:0001819	synonymous_variant	79230				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:7082034C>A	AK095524	CCDS42485.1, CCDS45945.1	19p13.2	2013-09-20			ENSG00000130544	ENSG00000130544		"""Zinc fingers, C2H2-type"", ""-"""	28632	protein-coding gene	gene with protein product						12477932	Standard	NM_024341		Approved	MGC4054	uc002mgc.3	Q8N988	OTTHUMG00000181977	ENST00000439035.2:c.376C>A	19.37:g.7082034C>A						ZNF557_ENST00000252840.6_Silent_p.R133R|ZNF557_ENST00000439035.2_Silent_p.R126R	p.R133R	NM_001044387.1|NM_001044388.1|NM_024341.2	NP_001037852.1|NP_001037853.1|NP_077317.2	Q8N988	ZN557_HUMAN		Lung(535;0.179)	7	870	+			126					Q6PEJ3|Q9BTZ1	Silent	SNP	ENST00000439035.2	37	c.397C>A	CCDS45945.1																																																																																				0.348	ZNF557-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458502.1	NM_024341		10	487	1	0	0.00010058	0.00010058	0.00856336	10	487				
SYNJ1	8867	broad.mit.edu	37	21	34051075	34051075	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr21:34051075G>T	ENST00000322229.7	-	11	1389	c.1390C>A	c.(1390-1392)Cag>Aag	p.Q464K	SYNJ1_ENST00000357345.3_Missense_Mutation_p.Q464K|SYNJ1_ENST00000433931.2_Missense_Mutation_p.Q503K|SYNJ1_ENST00000382499.2_Missense_Mutation_p.Q503K|SYNJ1_ENST00000382491.3_Missense_Mutation_p.Q467K			O43426	SYNJ1_HUMAN	synaptojanin 1	464					cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						AAGTTATTCTGAATTGTTCGG	0.378																																						ENST00000382499.2																			0				breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						c.(1507-1509)Cag>Aag		synaptojanin 1							94.0	92.0	93.0					21																	34051075		2203	4300	6503	SO:0001583	missense	8867						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr21:34051075G>T	AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.1390C>A	21.37:g.34051075G>T	ENSP00000322234:p.Gln464Lys					SYNJ1_ENST00000322229.7_Missense_Mutation_p.Q464K|SYNJ1_ENST00000433931.2_Missense_Mutation_p.Q503K|SYNJ1_ENST00000382491.3_Missense_Mutation_p.Q467K|SYNJ1_ENST00000357345.3_Missense_Mutation_p.Q464K	p.Q503K	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN			12	1506	-			464			Catalytic (Potential).		O43425|O94984|Q4KMR1	Missense_Mutation	SNP	ENST00000322229.7	37	c.1507C>A	CCDS54484.1	.	.	.	.	.	.	.	.	.	.	G	35	5.482666	0.96307	.	.	ENSG00000159082	ENST00000382491;ENST00000357345;ENST00000382499;ENST00000433931;ENST00000322229;ENST00000429236	T;T;T;T;T;T	0.25414	1.8;1.8;1.8;1.8;1.8;1.8	5.99	5.99	0.97316	.	0.118964	0.64402	D	0.000008	T	0.44705	0.1306	L	0.39020	1.185	0.80722	D	1	P;P;D;P;D	0.67145	0.64;0.719;0.994;0.739;0.996	B;B;P;P;D	0.72982	0.243;0.348;0.904;0.574;0.979	T	0.14755	-1.0461	10	0.54805	T	0.06	.	20.4777	0.99188	0.0:0.0:1.0:0.0	.	467;503;464;464;464	B9EGN3;C9JFZ1;O43426-2;O43426;O43426-4	.;.;.;SYNJ1_HUMAN;.	K	467;464;503;503;464;467	ENSP00000371931:Q467K;ENSP00000349903:Q464K;ENSP00000371939:Q503K;ENSP00000409667:Q503K;ENSP00000322234:Q464K;ENSP00000413649:Q467K	ENSP00000322234:Q464K	Q	-	1	0	SYNJ1	32972946	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.814000	0.99346	2.840000	0.97914	0.655000	0.94253	CAG		0.378	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				10	592	1	0	5.50884e-06	0.00010058	0.000838376	10	592				
RAP1B	5908	broad.mit.edu	37	12	69050210	69050210	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr12:69050210C>A	ENST00000250559.9	+	6	680	c.449C>A	c.(448-450)tCa>tAa	p.S150*	RAP1B_ENST00000543393.1_Nonsense_Mutation_p.S84*|RAP1B_ENST00000539091.1_Nonsense_Mutation_p.S108*|RAP1B_ENST00000543697.1_Intron|RAP1B_ENST00000542145.1_Nonsense_Mutation_p.S103*|RAP1B_ENST00000378985.3_Nonsense_Mutation_p.S84*|RAP1B_ENST00000341355.5_Nonsense_Mutation_p.S150*|RAP1B_ENST00000537460.1_Nonsense_Mutation_p.S150*|RAP1B_ENST00000463493.1_3'UTR|RAP1B_ENST00000450214.2_Nonsense_Mutation_p.S108*|RAP1B_ENST00000541216.1_Nonsense_Mutation_p.S150*|RAP1B_ENST00000393436.5_Nonsense_Mutation_p.S150*|RAP1B_ENST00000540209.1_Nonsense_Mutation_p.S131*	NM_001010942.2|NM_001251921.1|NM_001251922.1|NM_015646.5	NP_001010942.1|NP_001238850.1|NP_001238851.1|NP_056461.1	P61224	RAP1B_HUMAN	RAP1B, member of RAS oncogene family	150					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cellular response to cAMP (GO:0071320)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of establishment of cell polarity (GO:2000114)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)|urinary_tract(2)	12	Breast(13;1.24e-05)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)	GBM - Glioblastoma multiforme(7;0.000306)		TCTGCAAAATCAAAAATAAAT	0.338																																						ENST00000250559.9																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)|urinary_tract(2)	12						c.(448-450)tCa>tAa		RAP1B, member of RAS oncogene family							126.0	132.0	130.0					12																	69050210		2202	4299	6501	SO:0001587	stop_gained	5908				blood coagulation|energy reserve metabolic process|regulation of establishment of cell polarity|regulation of insulin secretion	cell-cell junction|cytosol	GDP binding|GTP binding|GTPase activity|protein binding	g.chr12:69050210C>A		CCDS8984.1, CCDS58252.1, CCDS58253.1, CCDS58254.1	12q14	2014-05-09			ENSG00000127314	ENSG00000127314			9857	protein-coding gene	gene with protein product		179530				3137530, 12089143	Standard	NM_015646		Approved	K-REV, RAL1B, DKFZp586H0723	uc001suc.3	P61224	OTTHUMG00000133660	ENST00000250559.9:c.449C>A	12.37:g.69050210C>A	ENSP00000250559:p.Ser150*					RAP1B_ENST00000393436.5_Nonsense_Mutation_p.S150*|RAP1B_ENST00000378985.3_Nonsense_Mutation_p.S84*|RAP1B_ENST00000543393.1_Nonsense_Mutation_p.S84*|RAP1B_ENST00000341355.5_Nonsense_Mutation_p.S150*|RAP1B_ENST00000540209.1_Nonsense_Mutation_p.S131*|RAP1B_ENST00000543697.1_Intron|RAP1B_ENST00000539091.1_Nonsense_Mutation_p.S108*|RAP1B_ENST00000450214.2_Nonsense_Mutation_p.S108*|RAP1B_ENST00000463493.1_3'UTR|RAP1B_ENST00000541216.1_Nonsense_Mutation_p.S150*|RAP1B_ENST00000542145.1_Nonsense_Mutation_p.S103*|RAP1B_ENST00000537460.1_Nonsense_Mutation_p.S150*	p.S150*	NM_001010942.2|NM_001251921.1|NM_001251922.1|NM_015646.5	NP_001010942.1|NP_001238850.1|NP_001238851.1|NP_056461.1	P61224	RAP1B_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)	GBM - Glioblastoma multiforme(7;0.000306)	6	680	+	Breast(13;1.24e-05)		150					B2R5Z2|B4DQI8|B4DW74|B4DW94|P09526|Q502X3|Q5TZR4|Q6DCA1|Q6LES0	Nonsense_Mutation	SNP	ENST00000250559.9	37	c.449C>A	CCDS8984.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.817521	0.90790	.	.	ENSG00000127314	ENST00000250559;ENST00000393436;ENST00000425247;ENST00000341355;ENST00000537460;ENST00000450214;ENST00000538980;ENST00000543393;ENST00000378985;ENST00000540209;ENST00000535492;ENST00000539091;ENST00000542145;ENST00000541216	.	.	.	5.6	5.6	0.85130	.	0.136637	0.48767	D	0.000161	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9958	0.97383	0.0:1.0:0.0:0.0	.	.	.	.	X	150;150;150;150;150;108;99;84;84;131;84;108;103;150	.	.	S	+	2	0	RAP1B	67336477	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.532000	0.60608	2.802000	0.96397	0.561000	0.74099	TCA		0.338	RAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257821.3	NM_001010942		15	506	1	0	3.83957e-06	4.16121e-05	0.000653801	15	506				
HLA-DQB2	3120	broad.mit.edu	37	6	32725572	32725572	+	Silent	SNP	G	G	A	rs112126661		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr6:32725572G>A	ENST00000437316.2	-	4	798	c.735C>T	c.(733-735)atC>atT	p.I245I	HLA-DQB2_ENST00000411527.1_Intron|HLA-DQB2_ENST00000435145.2_Silent_p.I245I			P05538	DQB2_HUMAN	major histocompatibility complex, class II, DQ beta 2	249					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						TGTGACGGATGATAAGGCCCA	0.557																																						ENST00000435145.2																			0				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						c.(733-735)atC>atT		major histocompatibility complex, class II, DQ beta 2																																				SO:0001819	synonymous_variant	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.chr6:32725572G>A	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.735C>T	6.37:g.32725572G>A						HLA-DQB2_ENST00000411527.1_Intron|HLA-DQB2_ENST00000437316.2_Silent_p.I245I	p.I245I			Q5SR06	Q5SR06_HUMAN			4	796	-			216					A6NIA5|Q29826|Q29870|Q29871|Q29872|Q29873|Q5SR06	Silent	SNP	ENST00000437316.2	37	c.735C>T																																																																																					0.557	HLA-DQB2-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000076216.2			10	97	0	0	0	3.86212e-05	0	10	97				
ANAPC1	64682	broad.mit.edu	37	2	112614406	112614406	+	Silent	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr2:112614406G>T	ENST00000341068.3	-	12	2188	c.1416C>A	c.(1414-1416)acC>acA	p.T472T		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	472					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						CTGGTATGTTGGTCACTGAAC	0.358																																						ENST00000341068.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						c.(1414-1416)acC>acA		anaphase promoting complex subunit 1							91.0	85.0	87.0					2																	112614406		2203	4300	6503	SO:0001819	synonymous_variant	64682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|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|cytosol|nucleoplasm		g.chr2:112614406G>T	AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"""Anaphase promoting complex subunits"""	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.1416C>A	2.37:g.112614406G>T							p.T472T	NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN			12	2188	-			472					Q2M3H8|Q9BSE6|Q9H8D0	Silent	SNP	ENST00000341068.3	37	c.1416C>A	CCDS2093.1	.	.	.	.	.	.	.	.	.	.	G	3.478	-0.106555	0.06924	.	.	ENSG00000153107	ENST00000427997	.	.	.	4.09	1.16	0.20824	.	.	.	.	.	T	0.55784	0.1942	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48234	-0.9053	4	.	.	.	-12.8832	8.521	0.33275	0.3365:0.0:0.6635:0.0	.	.	.	.	K	7	.	.	Q	-	1	0	ANAPC1	112330877	1.000000	0.71417	0.949000	0.38748	0.426000	0.31534	2.431000	0.44775	0.305000	0.22832	-0.291000	0.09656	CAA		0.358	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	NM_022662		9	592	1	0	3.86212e-05	3.86212e-05	0.00414285	9	592				
LOC220729	220729	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs376114863		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478																																						ENST00000418868.1																			0																																																			0							g.chr3:197348674A>G																													3.37:g.197348674A>G								NR_003266.2						0	585	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.478	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			6	592	0	0	0	3.59834e-05	0	6	592				
KRT24	192666	broad.mit.edu	37	17	38856558	38856558	+	Silent	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr17:38856558G>T	ENST00000264651.2	-	4	989	c.933C>A	c.(931-933)acC>acA	p.T311T		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	311	Linker 12.|Rod.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				TCAGTAATTTGGTCAGGTCGG	0.517																																					GBM(61;380 1051 14702 23642 31441)	ENST00000264651.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(931-933)acC>acA		keratin 24							205.0	211.0	209.0					17																	38856558		2203	4300	6503	SO:0001819	synonymous_variant	192666					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38856558G>T		CCDS11372.1	17q21.2	2013-06-25			ENSG00000167916	ENSG00000167916		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	18527	protein-coding gene	gene with protein product		607742				16831889	Standard	NM_019016		Approved	FLJ20261, MGC138169, MGC138173	uc002hvd.3	Q2M2I5	OTTHUMG00000133372	ENST00000264651.2:c.933C>A	17.37:g.38856558G>T							p.T311T	NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN			4	989	-		Breast(137;0.00526)	311			Linker 12.|Rod.		Q9NXG7	Silent	SNP	ENST00000264651.2	37	c.933C>A	CCDS11372.1																																																																																				0.517	KRT24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257217.1	NM_019016		12	1424	1	0	1.58986e-06	3.86212e-05	0.000286764	12	1424				
LPIN3	64900	broad.mit.edu	37	20	39981331	39981331	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr20:39981331C>A	ENST00000373257.3	+	10	1540	c.1449C>A	c.(1447-1449)atC>atA	p.I483I		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	483					fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				TGGTGAAAATCAATGGAAAGT	0.532																																						ENST00000373257.3																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1447-1449)atC>atA		lipin 3							114.0	128.0	124.0					20																	39981331		2203	4300	6503	SO:0001819	synonymous_variant	64900				fatty acid metabolic process	nucleus	phosphatidate phosphatase activity	g.chr20:39981331C>A	AL132654	CCDS33469.1	20q11.2-q12	2006-04-04	2002-05-23		ENSG00000132793	ENSG00000132793			14451	protein-coding gene	gene with protein product		605520	"""lipin 3-like"""	LIPN3L		11138012	Standard	XM_005260515		Approved	SMP2	uc002xjx.3	Q9BQK8	OTTHUMG00000033056	ENST00000373257.3:c.1449C>A	20.37:g.39981331C>A							p.I483I	NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN			10	1540	+		Myeloproliferative disorder(115;0.000739)	483					B2RTT5|Q5TDB9|Q9NPY8|Q9UJE5	Silent	SNP	ENST00000373257.3	37	c.1449C>A	CCDS33469.1	.	.	.	.	.	.	.	.	.	.	C	9.412	1.080820	0.20309	.	.	ENSG00000132793	ENST00000445975	.	.	.	4.59	2.56	0.30785	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-14.349	6.0553	0.19809	0.1525:0.6716:0.0:0.1759	.	.	.	.	X	4	.	.	S	+	2	0	LPIN3	39414745	0.001000	0.12720	1.000000	0.80357	0.990000	0.78478	-0.129000	0.10515	1.030000	0.39839	0.491000	0.48974	TCA		0.532	LPIN3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080393.1	NM_022896		15	780	1	0	3.45872e-05	3.45872e-05	0.00404903	15	780				
SH3TC2	79628	broad.mit.edu	37	5	148417924	148417924	+	Nonsense_Mutation	SNP	G	G	T	rs151205080		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr5:148417924G>T	ENST00000515425.1	-	8	1036	c.935C>A	c.(934-936)tCg>tAg	p.S312*	SH3TC2_ENST00000538184.1_5'UTR|SH3TC2_ENST00000512049.1_Nonsense_Mutation_p.S305*|SH3TC2_ENST00000394358.2_Nonsense_Mutation_p.S197*|SH3TC2_ENST00000513340.1_5'Flank	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	312	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAACTTGTCGACTTTCCAAT	0.468																																						ENST00000515425.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39						c.(934-936)tCg>tAg		SH3 domain and tetratricopeptide repeats 2							197.0	187.0	190.0					5																	148417924		2203	4300	6503	SO:0001587	stop_gained	79628						binding	g.chr5:148417924G>T	AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"""Tetratricopeptide (TTC) repeat domain containing"""	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.935C>A	5.37:g.148417924G>T	ENSP00000423660:p.Ser312*					SH3TC2_ENST00000538184.1_5'UTR|SH3TC2_ENST00000394358.2_Nonsense_Mutation_p.S197*|SH3TC2_ENST00000512049.1_Nonsense_Mutation_p.S305*	p.S312*	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		8	1036	-			312			SH3.		B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Nonsense_Mutation	SNP	ENST00000515425.1	37	c.935C>A	CCDS4293.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.768002	0.90020	.	.	ENSG00000169247	ENST00000515425;ENST00000512049;ENST00000394358	.	.	.	4.88	3.99	0.46301	.	0.251785	0.30639	N	0.009183	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.0496	0.53500	0.0875:0.0:0.9125:0.0	.	.	.	.	X	312;305;197	.	ENSP00000377886:S197X	S	-	2	0	SH3TC2	148398117	0.999000	0.42202	0.942000	0.38095	0.466000	0.32739	3.224000	0.51238	2.424000	0.82194	0.561000	0.74099	TCG		0.468	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2	NM_024577		9	746	1	0	3.86212e-05	3.86212e-05	0.00414285	9	746				
OR7G3	390883	broad.mit.edu	37	19	9237378	9237378	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr19:9237378C>A	ENST00000305444.2	-	1	248	c.249G>T	c.(247-249)gtG>gtT	p.V83V		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	83						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						CCTGGATGTTCACCAGCATCT	0.502																																						ENST00000305444.2																			0				NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(247-249)gtG>gtT		olfactory receptor, family 7, subfamily G, member 3							151.0	125.0	134.0					19																	9237378		2203	4300	6503	SO:0001819	synonymous_variant	390883				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9237378C>A		CCDS32899.1	19p13.2	2013-09-24			ENSG00000170920	ENSG00000170920		"""GPCR / Class A : Olfactory receptors"""	8467	protein-coding gene	gene with protein product							Standard	NM_001001958		Approved	OST085	uc010xkl.2	Q8NG95	OTTHUMG00000165520	ENST00000305444.2:c.249G>T	19.37:g.9237378C>A							p.V83V	NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN			1	248	-			83					Q6IFJ6|Q96R99	Silent	SNP	ENST00000305444.2	37	c.249G>T	CCDS32899.1																																																																																				0.502	OR7G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384611.1			12	701	1	0	6.40141e-05	6.40141e-05	0.00606515	12	701				
UBBP4	23666	broad.mit.edu	37	17	21731144	21731144	+	Missense_Mutation	SNP	T	T	G	rs375625296		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr17:21731144T>G	ENST00000578713.1	+	1	450	c.446T>G	c.(445-447)cTg>cGg	p.L149R	UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584755.1_Missense_Mutation_p.L149R					ubiquitin B pseudogene 4									p.L149R(18)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCTGAGAGGTGGT	0.542																																						ENST00000584755.1																			18	Substitution - Missense(18)	p.L149R(18)	endometrium(12)|prostate(6)	endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(445-447)cTg>cGg																																						SO:0001583	missense	0							g.chr17:21731144T>G	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.446T>G	17.37:g.21731144T>G	ENSP00000464265:p.Leu149Arg					UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R|UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584398.1_3'UTR	p.L149R							2	843	+									Missense_Mutation	SNP	ENST00000578713.1	37	c.446T>G																																																																																					0.542	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444589.2			8	372	0	0	0	5.18039e-06	0	8	372				
MBOAT2	129642	broad.mit.edu	37	2	9004330	9004330	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr2:9004330C>A	ENST00000305997.3	-	10	1220	c.1022G>T	c.(1021-1023)tGg>tTg	p.W341L	MBOAT2_ENST00000486484.1_5'UTR	NM_138799.2	NP_620154.2	Q6ZWT7	MBOA2_HUMAN	membrane bound O-acyltransferase domain containing 2	341					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)	p.W341L(1)	MBOAT2/PRKCE(2)	endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1)	15	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CTGAATATTCCAATTATCAAG	0.328																																					Ovarian(194;1699 3813 22401)	ENST00000305997.3																		MBOAT2/PRKCE(2)	1	Substitution - Missense(1)	p.W341L(1)	lung(1)	endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1)	15						c.(1021-1023)tGg>tTg		membrane bound O-acyltransferase domain containing 2							93.0	92.0	92.0					2																	9004330		2203	4300	6503	SO:0001583	missense	129642				phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	g.chr2:9004330C>A	BC016005	CCDS1660.1	2p25	2008-02-05	2006-06-29	2006-06-29	ENSG00000143797	ENSG00000143797			25193	protein-coding gene	gene with protein product		611949	"""O-acyltransferase (membrane bound) domain containing 2"""	OACT2			Standard	NM_138799		Approved	FLJ14415, FLJ90298	uc002qzg.1	Q6ZWT7	OTTHUMG00000090363	ENST00000305997.3:c.1022G>T	2.37:g.9004330C>A	ENSP00000302177:p.Trp341Leu					MBOAT2_ENST00000486484.1_5'UTR	p.W341L	NM_138799.2	NP_620154.2	Q6ZWT7	MBOA2_HUMAN			10	1220	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		341					A9EDR2|Q8NCE7|Q96KY4	Missense_Mutation	SNP	ENST00000305997.3	37	c.1022G>T	CCDS1660.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.939284	0.92526	.	.	ENSG00000143797	ENST00000305997	D	0.89681	-2.55	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	D	0.96140	0.8742	M	0.93507	3.425	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.77557	0.984;0.99	D	0.96980	0.9714	10	0.87932	D	0	-8.5929	19.1781	0.93611	0.0:1.0:0.0:0.0	.	341;341	B7Z3I3;Q6ZWT7	.;MBOA2_HUMAN	L	341	ENSP00000302177:W341L	ENSP00000302177:W341L	W	-	2	0	MBOAT2	8921781	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.270000	0.78493	2.532000	0.85374	0.561000	0.74099	TGG		0.328	MBOAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206735.1	NM_138799		10	604	1	0	9.31168e-06	9.31168e-06	0.00133376	10	604				
ANO3	63982	broad.mit.edu	37	11	26556101	26556101	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr11:26556101C>A	ENST00000256737.3	+	9	1820	c.968C>A	c.(967-969)tCa>tAa	p.S323*	ANO3_ENST00000537978.1_Nonsense_Mutation_p.S307*|ANO3_ENST00000525139.1_Nonsense_Mutation_p.S307*|ANO3_ENST00000531568.1_Nonsense_Mutation_p.S177*	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	323					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						AATGGAATATCAAAAGTGGGT	0.318																																						ENST00000256737.3																			0				breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(967-969)tCa>tAa		anoctamin 3							78.0	78.0	78.0					11																	26556101		2203	4299	6502	SO:0001587	stop_gained	63982					chloride channel complex	chloride channel activity	g.chr11:26556101C>A	AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	14004	protein-coding gene	gene with protein product	"""transmembrane protein 16C (eight membrane-spanning domains)"""	610110	"""chromosome 11 open reading frame 25"", ""transmembrane protein 16C"""	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.968C>A	11.37:g.26556101C>A	ENSP00000256737:p.Ser323*					ANO3_ENST00000537978.1_Nonsense_Mutation_p.S307*|ANO3_ENST00000531568.1_Nonsense_Mutation_p.S177*|ANO3_ENST00000525139.1_Nonsense_Mutation_p.S307*	p.S323*	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN			9	1820	+			323					B7Z3F5	Nonsense_Mutation	SNP	ENST00000256737.3	37	c.968C>A	CCDS31447.1	.	.	.	.	.	.	.	.	.	.	C	39	7.882011	0.98542	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000538001;ENST00000531568	.	.	.	5.03	5.03	0.67393	.	0.390504	0.26959	N	0.021623	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	.	17.9596	0.89081	0.0:1.0:0.0:0.0	.	.	.	.	X	307;307;323;225;177	.	ENSP00000256737:S323X	S	+	2	0	ANO3	26512677	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.640000	0.61368	2.349000	0.79799	0.460000	0.39030	TCA		0.318	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418		10	506	1	0	3.86212e-05	3.86212e-05	0.00414285	10	506				
TIFA	92610	broad.mit.edu	37	4	113199421	113199421	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr4:113199421C>A	ENST00000361717.3	-	2	433	c.152G>T	c.(151-153)cGa>cTa	p.R51L	TIFA_ENST00000500655.2_Missense_Mutation_p.R51L	NM_052864.2	NP_443096.1	Q96CG3	TIFA_HUMAN	TRAF-interacting protein with forkhead-associated domain	51	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.				I-kappaB kinase/NF-kappaB signaling (GO:0007249)					breast(2)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)	6		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00172)		GTTGGAATTTCGGCCAAATTT	0.413																																						ENST00000361717.2																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)	6						c.(151-153)cGa>cTa		TRAF-interacting protein with forkhead-associated domain							80.0	91.0	88.0					4																	113199421		2199	4295	6494	SO:0001583	missense	92610						protein binding	g.chr4:113199421C>A	BC008294	CCDS34051.1	4q25	2008-03-17				ENSG00000145365			19075	protein-coding gene	gene with protein product	"""TRAF2 binding protein"", ""TRAF6 binding protein"""	609028				1179819	Standard	NM_052864		Approved	MGC20791, T2BP, T6BP, TIFAA	uc003ial.3	Q96CG3		ENST00000361717.3:c.152G>T	4.37:g.113199421C>A	ENSP00000354911:p.Arg51Leu					TIFA_ENST00000500655.2_Missense_Mutation_p.R51L	p.R51L	NM_052864.2	NP_443096.1	Q96CG3	TIFA_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00172)	2	433	-		Ovarian(17;0.0443)|Hepatocellular(203;0.217)	51			FHA.			Missense_Mutation	SNP	ENST00000361717.3	37	c.152G>T	CCDS34051.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.038362	0.93630	.	.	ENSG00000145365	ENST00000361717;ENST00000438746;ENST00000500655	T;T	0.74106	-0.81;-0.81	5.92	5.92	0.95590	Forkhead-associated (FHA) domain (4);	0.000000	0.85682	D	0.000000	D	0.87083	0.6089	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87214	0.2249	10	0.87932	D	0	-16.928	20.3343	0.98733	0.0:1.0:0.0:0.0	.	51	Q96CG3	TIFA_HUMAN	L	51	ENSP00000354911:R51L;ENSP00000424231:R51L	ENSP00000354911:R51L	R	-	2	0	TIFA	113418870	0.999000	0.42202	0.960000	0.40013	0.980000	0.70556	4.514000	0.60482	2.822000	0.97130	0.650000	0.86243	CGA		0.413	TIFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363647.2	NM_052864		14	887	1	0	3.45872e-05	3.45872e-05	0.00404903	14	887				
YJEFN3	374887	broad.mit.edu	37	19	19645890	19645890	+	Silent	SNP	C	C	A	rs572316855		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr19:19645890C>A	ENST00000514277.4	+	4	404	c.366C>A	c.(364-366)gtC>gtA	p.V122V	CTC-260F20.3_ENST00000555938.1_Silent_p.V121V|YJEFN3_ENST00000436027.5_Silent_p.V72V|YJEFN3_ENST00000608404.1_Silent_p.V121V	NM_198537.3	NP_940939.2	A6XGL0	YJEN3_HUMAN	YjeF N-terminal domain containing 3	122	YjeF N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00719}.									NS(1)|breast(1)|lung(3)	5						CGGTGCTGGTCGTGTGTGGCC	0.642																																						ENST00000555938.1																			0											c.(361-363)gtC>gtA									87.0	106.0	99.0					19																	19645890		2122	4229	6351	SO:0001819	synonymous_variant	0							g.chr19:19645890C>A		CCDS42530.1, CCDS54236.1	19p13.11	2014-09-11			ENSG00000250067	ENSG00000250067			24785	protein-coding gene	gene with protein product						17533573	Standard	NM_198537		Approved	hYjeF_N3-19p13.11, FLJ44968	uc002nmt.2	A6XGL0	OTTHUMG00000162251	ENST00000514277.4:c.366C>A	19.37:g.19645890C>A						YJEFN3_ENST00000514277.3_Silent_p.V122V|YJEFN3_ENST00000436027.4_Silent_p.V72V	p.V121V							5	375	+								A6XGK9|Q4G1C0	Silent	SNP	ENST00000514277.4	37	c.363C>A	CCDS42530.1																																																																																				0.642	YJEFN3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368157.5	NM_198537		10	800	1	0	0.00010058	0.00010058	0.00856336	10	800				
IRX2	153572	broad.mit.edu	37	5	2749639	2749639	+	Missense_Mutation	SNP	C	C	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr5:2749639C>T	ENST00000382611.6	-	2	760	c.512G>A	c.(511-513)cGc>cAc	p.R171H	C5orf38_ENST00000515640.1_5'Flank|C5orf38_ENST00000457752.2_5'Flank|C5orf38_ENST00000334000.3_5'Flank|C5orf38_ENST00000397835.4_5'Flank|IRX2_ENST00000502957.1_5'UTR|C5orf38_ENST00000505778.1_5'Flank|IRX2_ENST00000302057.5_Missense_Mutation_p.R171H	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	171					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		CTTCTTGAGGCGCCGGCGCGC	0.592																																						ENST00000382611.6																			0				breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26						c.(511-513)cGc>cAc		iroquois homeobox 2							136.0	128.0	131.0					5																	2749639		2203	4300	6503	SO:0001583	missense	153572					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:2749639C>T	AF319967	CCDS3868.1	5p15.33	2011-06-20	2007-07-13		ENSG00000170561	ENSG00000170561		"""Homeoboxes / TALE class"""	14359	protein-coding gene	gene with protein product		606198				11435706	Standard	NM_033267		Approved		uc003jdb.3	Q9BZI1	OTTHUMG00000090377	ENST00000382611.6:c.512G>A	5.37:g.2749639C>T	ENSP00000372056:p.Arg171His					IRX2_ENST00000502957.1_5'UTR|IRX2_ENST00000302057.5_Missense_Mutation_p.R171H	p.R171H	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN		GBM - Glioblastoma multiforme(108;0.204)	2	760	-			171					Q68A19|Q7Z2I7	Missense_Mutation	SNP	ENST00000382611.6	37	c.512G>A	CCDS3868.1	.	.	.	.	.	.	.	.	.	.	C	35	5.448586	0.96205	.	.	ENSG00000170561	ENST00000382611;ENST00000302057;ENST00000502957	D;D;D	0.98617	-5.03;-5.03;-5.03	4.85	4.85	0.62838	Homeodomain-related (1);Homeobox (2);Homeobox KN domain (1);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99471	0.9812	H	0.96996	3.92	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98132	1.0431	10	0.87932	D	0	-23.159	17.9697	0.89110	0.0:1.0:0.0:0.0	.	171	Q9BZI1	IRX2_HUMAN	H	171;171;78	ENSP00000372056:R171H;ENSP00000307006:R171H;ENSP00000426151:R78H	ENSP00000307006:R171H	R	-	2	0	IRX2	2802639	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.460000	0.80816	2.239000	0.73571	0.655000	0.94253	CGC		0.592	IRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206749.2			9	497	0	0	0	2.17888e-05	0	9	497				
FRG1B	284802	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr20:29628245G>A	ENST00000278882.3	+	6	627	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	83								p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.A83T(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(247-249)Gcc>Acc																																						SO:0001583	missense	0							g.chr20:29628245G>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.247G>A	20.37:g.29628245G>A	ENSP00000278882:p.Ala83Thr					FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T	p.A83T							6	627	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.247G>A		.	.	.	.	.	.	.	.	.	.	g	18.80	3.700173	0.68501	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.50277	0.75	2.08	2.08	0.27032	Actin cross-linking (1);	0.055129	0.64402	D	0.000001	T	0.40473	0.1118	.	.	.	0.51482	D	0.99992	B;P	0.40875	0.016;0.731	B;P	0.45558	0.085;0.485	T	0.12502	-1.0545	9	0.21540	T	0.41	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	88;83	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	T	83;88;83	ENSP00000408863:A88T	ENSP00000278882:A83T	A	+	1	0	FRG1B	28241906	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	8.494000	0.90477	1.475000	0.48197	0.423000	0.28283	GCC		0.353	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		10	860	0	0	0	1.64113e-05	0	10	860				
KCNK2	3776	broad.mit.edu	37	1	215408472	215408472	+	Missense_Mutation	SNP	T	T	C			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr1:215408472T>C	ENST00000444842.2	+	7	1415	c.1265T>C	c.(1264-1266)aTt>aCt	p.I422T	KCNK2_ENST00000391895.2_Missense_Mutation_p.I418T|KCNK2_ENST00000391894.2_Missense_Mutation_p.I407T	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	422	Essential for chloroform and halothane sensitivity. {ECO:0000250}.|Required for basal channel activity. {ECO:0000250}.				G-protein coupled receptor signaling pathway (GO:0007186)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|potassium ion leak channel activity (GO:0022841)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)|Dronedarone(DB04855)	ATTGCTGTGATTGAGAACATC	0.438																																						ENST00000444842.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30						c.(1264-1266)aTt>aCt		potassium channel, subfamily K, member 2	Dofetilide(DB00204)						142.0	138.0	140.0					1																	215408472		2203	4299	6502	SO:0001583	missense	3776						outward rectifier potassium channel activity	g.chr1:215408472T>C	AF004711	CCDS31024.1, CCDS41466.1, CCDS41467.1	1q41	2012-03-07			ENSG00000082482	ENSG00000082482		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6277	protein-coding gene	gene with protein product		603219				9721223, 16382106	Standard	NM_001017424		Approved	K2p2.1, TREK-1	uc001hkr.4	O95069	OTTHUMG00000037017	ENST00000444842.2:c.1265T>C	1.37:g.215408472T>C	ENSP00000394033:p.Ile422Thr					KCNK2_ENST00000391895.2_Missense_Mutation_p.I418T|KCNK2_ENST00000391894.2_Missense_Mutation_p.I407T	p.I422T	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	7	1415	+			422			Essential for chloroform and halothane sensitivity (By similarity).|Required for basal channel activity (By similarity).		A1Z1V3|A8K618|B2RCS4|B7ZL56|D3DTA5|Q5DP47|Q5DP48|Q9NRT2|Q9UNE3	Missense_Mutation	SNP	ENST00000444842.2	37	c.1265T>C	CCDS41467.1	.	.	.	.	.	.	.	.	.	.	T	16.60	3.167433	0.57476	.	.	ENSG00000082482	ENST00000391895;ENST00000391894;ENST00000444842	T;T;T	0.26518	1.73;1.76;1.73	5.63	5.63	0.86233	.	0.385177	0.29565	N	0.011799	T	0.21347	0.0514	L	0.27053	0.805	0.58432	D	0.999999	P;P;P	0.40731	0.728;0.608;0.728	B;B;B	0.37888	0.26;0.133;0.26	T	0.03157	-1.1066	10	0.87932	D	0	.	15.8309	0.78749	0.0:0.0:0.0:1.0	.	407;422;418	O95069-2;O95069;O95069-3	.;KCNK2_HUMAN;.	T	418;407;422	ENSP00000375765:I418T;ENSP00000375764:I407T;ENSP00000394033:I422T	ENSP00000375764:I407T	I	+	2	0	KCNK2	213475095	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	7.502000	0.81614	2.149000	0.67028	0.402000	0.26972	ATT		0.438	KCNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089856.2	NM_014217		7	545	0	0	0	1.12685e-05	0	7	545				
CEP135	9662	broad.mit.edu	37	4	56890672	56890672	+	Missense_Mutation	SNP	G	G	T	rs368917402		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr4:56890672G>T	ENST00000257287.4	+	25	3450	c.3326G>T	c.(3325-3327)cGa>cTa	p.R1109L		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	1109					centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)	protein C-terminus binding (GO:0008022)	p.R1109L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					AACAGAGAACGAGCAATCCAA	0.378																																						ENST00000257287.4																			1	Substitution - Missense(1)	p.R1109L(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50						c.(3325-3327)cGa>cTa		centrosomal protein 135kDa							198.0	186.0	190.0					4																	56890672		2203	4300	6503	SO:0001583	missense	9662				centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding	g.chr4:56890672G>T	AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799			29086	protein-coding gene	gene with protein product		611423	"""KIAA0635"", ""centrosomal protein 4"""	KIAA0635, CEP4		9734811, 14654843	Standard	NM_025009		Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.3326G>T	4.37:g.56890672G>T	ENSP00000257287:p.Arg1109Leu						p.R1109L	NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN			25	3450	+	Glioma(25;0.08)|all_neural(26;0.101)		1109					B2RMY0|O75130|Q58F25|Q9H8H7	Missense_Mutation	SNP	ENST00000257287.4	37	c.3326G>T	CCDS33986.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.294174	0.81025	.	.	ENSG00000174799	ENST00000257287	T	0.15952	2.38	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.47820	0.1466	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.46884	-0.9159	10	0.62326	D	0.03	.	19.7006	0.96050	0.0:0.0:1.0:0.0	.	1109	Q66GS9	CP135_HUMAN	L	1109	ENSP00000257287:R1109L	ENSP00000257287:R1109L	R	+	2	0	CEP135	56585429	1.000000	0.71417	1.000000	0.80357	0.748000	0.42578	7.130000	0.77235	2.664000	0.90586	0.650000	0.86243	CGA		0.378	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362092.2	NM_025009		11	1268	1	0	6.40141e-05	6.40141e-05	0.00606515	11	1268				
DCDC2	51473	broad.mit.edu	37	6	24205358	24205358	+	Intron	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr6:24205358C>A	ENST00000378454.3	-	8	1224				DCDC2_ENST00000378450.3_Missense_Mutation_p.D52Y	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2						cellular defense response (GO:0006968)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|neuron migration (GO:0001764)|visual learning (GO:0008542)					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				CAGTGAAAATCAAAATCCAAT	0.378																																						ENST00000378450.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(154-156)Gat>Tat		doublecortin domain containing 2							124.0	121.0	122.0					6																	24205358		2203	4299	6502	SO:0001627	intron_variant	51473				cellular defense response|intracellular signal transduction|neuron migration			g.chr6:24205358C>A	AB032980	CCDS4550.1	6p22.1	2008-02-05			ENSG00000146038	ENSG00000146038			18141	protein-coding gene	gene with protein product		605755				10601354, 10574461	Standard	NM_001195610		Approved	RU2, KIAA1154, DCDC2A	uc003ndx.3	Q9UHG0	OTTHUMG00000016275	ENST00000378454.3:c.923-28G>T	6.37:g.24205358C>A						DCDC2_ENST00000378454.3_Intron	p.D52Y			Q9UHG0	DCDC2_HUMAN			1	173	-		Ovarian(999;0.101)	0			Doublecortin 1.		Q5VTR8|Q5VTR9|Q86W35|Q9UFD1|Q9UHG1|Q9ULR6	Missense_Mutation	SNP	ENST00000378454.3	37	c.154G>T	CCDS4550.1	.	.	.	.	.	.	.	.	.	.	C	12.08	1.830278	0.32329	.	.	ENSG00000146038	ENST00000378450	T	0.50813	0.73	6.07	0.246	0.15516	.	.	.	.	.	T	0.10035	0.0246	.	.	.	0.09310	N	1	B	0.17667	0.023	B	0.16289	0.015	T	0.33033	-0.9884	7	.	.	.	.	4.5225	0.11966	0.4248:0.3732:0.0962:0.1058	.	52	Q9UHG0-2	.	Y	52	ENSP00000367711:D52Y	.	D	-	1	0	DCDC2	24313337	0.305000	0.24481	0.640000	0.29408	0.917000	0.54804	-0.294000	0.08309	0.091000	0.17302	0.655000	0.94253	GAT		0.378	DCDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043604.1	NM_016356		9	450	1	0	3.86212e-05	3.86212e-05	0.00414285	9	450				
CCDC127	133957	broad.mit.edu	37	5	205888	205888	+	Nonsense_Mutation	SNP	G	G	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr5:205888G>A	ENST00000296824.3	-	3	439	c.307C>T	c.(307-309)Cga>Tga	p.R103*		NM_145265.2	NP_660308.1	Q96BQ5	CC127_HUMAN	coiled-coil domain containing 127	103										breast(1)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12			all cancers(22;0.0236)|Lung(60;0.113)			AGGGCTTCTCGGTAACTAGCA	0.498																																						ENST00000296824.3																			0				breast(1)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						c.(307-309)Cga>Tga		coiled-coil domain containing 127							101.0	101.0	101.0					5																	205888		2203	4300	6503	SO:0001587	stop_gained	133957							g.chr5:205888G>A	AK098567	CCDS3852.1	5p15.33	2008-02-05			ENSG00000164366	ENSG00000164366			30520	protein-coding gene	gene with protein product						12477932	Standard	NM_145265		Approved	FLJ25701	uc003jam.1	Q96BQ5	OTTHUMG00000161586	ENST00000296824.3:c.307C>T	5.37:g.205888G>A	ENSP00000296824:p.Arg103*						p.R103*	NM_145265.2	NP_660308.1	Q96BQ5	CC127_HUMAN	all cancers(22;0.0236)|Lung(60;0.113)		3	439	-			103						Nonsense_Mutation	SNP	ENST00000296824.3	37	c.307C>T	CCDS3852.1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.629715	0.46944	.	.	ENSG00000164366	ENST00000296824	.	.	.	5.77	4.91	0.64330	.	0.120792	0.56097	D	0.000029	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.6082	14.1903	0.65635	0.0:0.0:0.8491:0.1509	.	.	.	.	X	103	.	ENSP00000296824:R103X	R	-	1	2	CCDC127	258888	1.000000	0.71417	0.944000	0.38274	0.475000	0.33008	2.365000	0.44196	1.457000	0.47850	-0.218000	0.12543	CGA		0.498	CCDC127-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365459.2	NM_145265		9	569	0	0	0	2.17888e-05	0	9	569				
CCPG1	9236	broad.mit.edu	37	15	55652145	55652145	+	Nonsense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr15:55652145G>T	ENST00000310958.6	-	8	2124	c.1826C>A	c.(1825-1827)tCa>tAa	p.S609*	CCPG1_ENST00000425574.3_Intron|DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000442196.3_Nonsense_Mutation_p.S609*|CCPG1_ENST00000569205.1_Nonsense_Mutation_p.S609*	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	609					cell cycle (GO:0007049)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001106)	integral component of membrane (GO:0016021)				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		GCATTTCTTTGAATTTGTATT	0.373																																						ENST00000310958.6																			0				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30						c.(1825-1827)tCa>tAa		cell cycle progression 1							81.0	79.0	79.0					15																	55652145		1799	4059	5858	SO:0001587	stop_gained	9236				cell cycle	integral to membrane		g.chr15:55652145G>T	AF212228	CCDS42039.1, CCDS55966.1, CCDS55967.1	15q21.1	2011-04-20				ENSG00000260916			24227	protein-coding gene	gene with protein product		611326				9383053, 10574462	Standard	NM_004748		Approved	KIAA1254, CPR8	uc010bfk.2	Q9ULG6		ENST00000310958.6:c.1826C>A	15.37:g.55652145G>T	ENSP00000311656:p.Ser609*					CCPG1_ENST00000425574.3_Intron|CCPG1_ENST00000569205.1_Nonsense_Mutation_p.S609*|DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000442196.3_Nonsense_Mutation_p.S609*	p.S609*	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN		all cancers(107;0.0354)	8	2124	-			609					A0PJH3|A8K9T0|O14712|Q05DG4|Q5U5S7|Q8IYV8|Q9BY53|Q9HA17	Nonsense_Mutation	SNP	ENST00000310958.6	37	c.1826C>A	CCDS42039.1	.	.	.	.	.	.	.	.	.	.	G	9.715	1.158088	0.21454	.	.	ENSG00000256061	ENST00000310958;ENST00000442196	.	.	.	5.62	4.7	0.59300	.	0.270366	0.30320	N	0.009898	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.7122	0.51630	0.0808:0.0:0.9192:0.0	.	.	.	.	X	609	.	ENSP00000311656:S609X	S	-	2	0	DYX1C1	53439437	0.186000	0.23225	0.002000	0.10522	0.061000	0.15899	3.051000	0.49885	1.393000	0.46605	0.655000	0.94253	TCA		0.373	CCPG1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419850.1	NM_004748		17	588	1	0	5.01169e-05	5.01169e-05	0.00532903	17	588				
RSPH4A	345895	broad.mit.edu	37	6	116944001	116944001	+	Nonsense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr6:116944001G>T	ENST00000229554.5	+	2	894	c.757G>T	c.(757-759)Gaa>Taa	p.E253*	RSPH4A_ENST00000368581.4_Nonsense_Mutation_p.E253*|RSPH4A_ENST00000368580.4_Nonsense_Mutation_p.E253*	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	253					axoneme assembly (GO:0035082)|cilium movement (GO:0003341)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|radial spoke (GO:0001534)				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TGACATCTTTGAAAATATTAG	0.308									Kartagener syndrome																													ENST00000229554.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(757-759)Gaa>Taa		radial spoke head 4 homolog A (Chlamydomonas)							95.0	103.0	101.0					6																	116944001		2203	4300	6503	SO:0001587	stop_gained	345895	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke		g.chr6:116944001G>T		CCDS34521.1, CCDS55051.1	6q22.1	2012-05-03	2009-02-17	2009-02-17	ENSG00000111834	ENSG00000111834			21558	protein-coding gene	gene with protein product		612647	"""radial spokehead-like 3"""	RSHL3		19200523	Standard	NM_001010892		Approved	dJ412I7.1, FLJ37974, RSPH6B, CILD11	uc003pxe.2	Q5TD94	OTTHUMG00000015444	ENST00000229554.5:c.757G>T	6.37:g.116944001G>T	ENSP00000229554:p.Glu253*					RSPH4A_ENST00000368580.4_Nonsense_Mutation_p.E253*|RSPH4A_ENST00000368581.4_Nonsense_Mutation_p.E253*	p.E253*	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN			2	894	+			253					B4DSI1|Q3KP24|Q5TD95	Nonsense_Mutation	SNP	ENST00000229554.5	37	c.757G>T	CCDS34521.1	.	.	.	.	.	.	.	.	.	.	G	37	6.302340	0.97458	.	.	ENSG00000111834	ENST00000368581;ENST00000229554;ENST00000447842;ENST00000368580	.	.	.	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-19.144	13.533	0.61633	0.0:0.0:1.0:0.0	.	.	.	.	X	253;253;48;253	.	ENSP00000229554:E253X	E	+	1	0	RSPH4A	117050694	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.784000	0.85713	2.661000	0.90470	0.609000	0.83330	GAA		0.308	RSPH4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041960.1	NM_001010892		11	949	1	0	1.49906e-05	1.49906e-05	0.00199465	11	949				
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		6	396	0	0	0	8.12818e-05	0	6	396				
RLIM	51132	broad.mit.edu	37	X	73811695	73811695	+	Silent	SNP	A	A	G	rs374955178		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chrX:73811695A>G	ENST00000332687.6	-	4	1673	c.1455T>C	c.(1453-1455)agT>agC	p.S485S	RLIM_ENST00000349225.2_Silent_p.S485S	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	485	Ser-rich.				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)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TAGTTTCTGAACTTTCACCAc	0.493																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)	ENST00000332687.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1453-1455)agT>agC		ring finger protein, LIM domain interacting							35.0	32.0	33.0					X																	73811695		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:73811695A>G	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.1455T>C	X.37:g.73811695A>G						RLIM_ENST00000349225.2_Silent_p.S485S	p.S485S	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN			4	1673	-			485			Ser-rich.		B2RBQ1|D3DTE0|Q96D38|Q9Y598	Silent	SNP	ENST00000332687.6	37	c.1455T>C	CCDS14427.1																																																																																				0.493	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		4	117	0	0	0	1.12685e-05	0	4	117				
KIAA1841	84542	broad.mit.edu	37	2	61319641	61319641	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr2:61319641C>A	ENST00000402291.1	+	11	1372	c.1131C>A	c.(1129-1131)ttC>ttA	p.F377L	KIAA1841_ENST00000356719.2_Missense_Mutation_p.F377L|KIAA1841_ENST00000295031.5_Missense_Mutation_p.F377L|KIAA1841_ENST00000453873.1_Missense_Mutation_p.F377L	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	377										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			ATAGTCTTTTCGAAGAATTAA	0.313																																						ENST00000402291.1																			0				breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25						c.(1129-1131)ttC>ttA		KIAA1841							87.0	94.0	92.0					2																	61319641		2203	4300	6503	SO:0001583	missense	84542							g.chr2:61319641C>A	BC070104	CCDS1867.1, CCDS46296.1	2p15	2010-06-22			ENSG00000162929	ENSG00000162929			29387	protein-coding gene	gene with protein product						11347906	Standard	NM_032506		Approved		uc002saw.4	Q6NSI8	OTTHUMG00000129421	ENST00000402291.1:c.1131C>A	2.37:g.61319641C>A	ENSP00000385579:p.Phe377Leu					KIAA1841_ENST00000356719.2_Missense_Mutation_p.F377L|KIAA1841_ENST00000295031.5_Missense_Mutation_p.F377L|KIAA1841_ENST00000453873.1_Missense_Mutation_p.F377L	p.F377L	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	Epithelial(17;0.193)		11	1372	+			377					Q49AF0|Q6ZND0|Q96JI6	Missense_Mutation	SNP	ENST00000402291.1	37	c.1131C>A	CCDS46296.1	.	.	.	.	.	.	.	.	.	.	C	12.59	1.983612	0.35036	.	.	ENSG00000162929	ENST00000402291;ENST00000295031;ENST00000356719;ENST00000453873	.	.	.	5.57	3.21	0.36854	.	0.205027	0.44483	D	0.000455	T	0.42988	0.1227	L	0.46157	1.445	0.41078	D	0.9855	P;P	0.39535	0.677;0.585	B;B	0.39419	0.198;0.299	T	0.14559	-1.0468	9	0.19147	T	0.46	-15.8163	10.1076	0.42544	0.0:0.2114:0.0:0.7886	.	377;377	Q6NSI8-2;Q6NSI8	.;K1841_HUMAN	L	377	.	ENSP00000295031:F377L	F	+	3	2	KIAA1841	61173145	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.061000	0.30542	0.405000	0.25532	-1.224000	0.01588	TTC		0.313	KIAA1841-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325477.1	NM_032506		8	636	1	0	6.40141e-05	6.40141e-05	0.00606515	8	636				
SEMG1	6406	broad.mit.edu	37	20	43836817	43836817	+	Silent	SNP	A	A	G	rs17850164		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr20:43836817A>G	ENST00000372781.3	+	2	936	c.879A>G	c.(877-879)acA>acG	p.T293T	SEMG1_ENST00000244069.6_Intron	NM_003007.3	NP_002998.1	P04279	SEMG1_HUMAN	semenogelin I	293	2 X 60 AA tandem repeats, type 1.|Repeat-rich region. {ECO:0000250}.				insemination (GO:0007320)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)	p.T293T(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				CTTCAAGTACAGAAGAAAGAC	0.383																																						ENST00000372781.3																			2	Substitution - coding silent(2)	p.T293T(2)	lung(1)|kidney(1)	cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32						c.(877-879)acA>acG		semenogelin I							67.0	64.0	65.0					20																	43836817		2203	4300	6503	SO:0001819	synonymous_variant	6406							g.chr20:43836817A>G		CCDS13345.1	20q12-q13.2	2009-08-06			ENSG00000124233	ENSG00000124233			10742	protein-coding gene	gene with protein product	"""semen coagulating protein"", ""cancer/testis antigen 103"""	182140		SEMG		2912989, 15563730	Standard	NM_003007		Approved	CT103		P04279	OTTHUMG00000032565	ENST00000372781.3:c.879A>G	20.37:g.43836817A>G						SEMG1_ENST00000244069.6_Intron	p.T293T	NM_003007.3	NP_002998.1					2	936	+		Myeloproliferative disorder(115;0.0122)						Q53ZV0|Q53ZV1|Q53ZV2|Q6X4I9|Q6Y809|Q6Y822|Q6Y823|Q86U64|Q96QM3	Silent	SNP	ENST00000372781.3	37	c.879A>G	CCDS13345.1																																																																																				0.383	SEMG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079416.3	NM_003007		6	456	0	0	0	3.59834e-05	0	6	456				
PGR	5241	broad.mit.edu	37	11	100922228	100922228	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr11:100922228C>A	ENST00000325455.5	-	5	3737	c.2284G>T	c.(2284-2286)Ggt>Tgt	p.G762C	PGR_ENST00000534013.1_Missense_Mutation_p.G168C|PGR_ENST00000263463.5_Missense_Mutation_p.G660C	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	762	Steroid-binding.				cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|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)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	CATCCTAGACCAAACACCATT	0.348																																					Pancreas(124;2271 2354 21954 22882)	ENST00000325455.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36						c.(2284-2286)Ggt>Tgt		progesterone receptor	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)						119.0	117.0	118.0					11																	100922228		2203	4300	6503	SO:0001583	missense	5241				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr11:100922228C>A	M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"""Nuclear hormone receptors"""	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.2284G>T	11.37:g.100922228C>A	ENSP00000325120:p.Gly762Cys					PGR_ENST00000263463.5_Missense_Mutation_p.G660C|PGR_ENST00000534013.1_Missense_Mutation_p.G168C	p.G762C	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	P06401	PRGR_HUMAN		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	5	3737	-		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)	762			Steroid-binding.		A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Missense_Mutation	SNP	ENST00000325455.5	37	c.2284G>T	CCDS8310.1	.	.	.	.	.	.	.	.	.	.	C	18.40	3.616469	0.66672	.	.	ENSG00000082175	ENST00000325455;ENST00000534013;ENST00000263463;ENST00000537623	D;D;D	0.96619	-4.07;-4.07;-4.07	5.24	5.24	0.73138	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.119765	0.56097	D	0.000031	D	0.98052	0.9358	M	0.77406	2.37	0.27257	N	0.95872	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.85130	0.99;0.997;0.969	D	0.94318	0.7551	10	0.66056	D	0.02	.	18.8379	0.92169	0.0:1.0:0.0:0.0	.	660;762;143	Q8TDS3;P06401;A7LQ08	.;PRGR_HUMAN;.	C	762;168;660;660	ENSP00000325120:G762C;ENSP00000436561:G168C;ENSP00000263463:G660C	ENSP00000263463:G660C	G	-	1	0	PGR	100427438	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	4.049000	0.57397	2.435000	0.82474	0.650000	0.86243	GGT		0.348	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394934.1			8	859	1	0	3.86212e-05	3.86212e-05	0.00414285	8	859				
CDH4	1002	broad.mit.edu	37	20	60511971	60511971	+	Silent	SNP	G	G	A	rs374087046		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr20:60511971G>A	ENST00000360469.5	+	16	2809	c.2721G>A	c.(2719-2721)gcG>gcA	p.A907A	CDH4_ENST00000543233.1_Silent_p.A833A	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	907					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			AGAAGCTGGCGGACATGTATG	0.602																																						ENST00000360469.5																			0				NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74						c.(2719-2721)gcG>gcA		cadherin 4, type 1, R-cadherin (retinal)		G		0,4406		0,0,2203	79.0	57.0	64.0		2721	-1.1	1.0	20		64	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CDH4	NM_001794.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		907/917	60511971	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1002				adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60511971G>A	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.2721G>A	20.37:g.60511971G>A						CDH4_ENST00000543233.1_Silent_p.A833A	p.A907A	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		16	2809	+			907					B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Silent	SNP	ENST00000360469.5	37	c.2721G>A	CCDS13488.1																																																																																				0.602	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		10	245	0	0	0	2.17888e-05	0	10	245				
POTEC	388468	broad.mit.edu	37	18	14542654	14542654	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr18:14542654C>A	ENST00000358970.5	-	1	491	c.492G>T	c.(490-492)acG>acT	p.T164T	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	164								p.T164T(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TGTTCATGTCCGTGTCCCTGA	0.592																																						ENST00000358970.5																			2	Substitution - coding silent(2)	p.T164T(2)	lung(1)|kidney(1)	NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(490-492)acG>acT		POTE ankyrin domain family, member C							260.0	241.0	247.0					18																	14542654		692	1591	2283	SO:0001819	synonymous_variant	388468							g.chr18:14542654C>A	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.492G>T	18.37:g.14542654C>A						POTEC_ENST00000389891.4_5'UTR	p.T164T	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			1	491	-			164						Silent	SNP	ENST00000358970.5	37	c.492G>T	CCDS45835.1																																																																																				0.592	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		6	623	1	0	6.40141e-05	6.40141e-05	0.00606515	6	623				
PHKG2	5261	broad.mit.edu	37	16	30762881	30762881	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr16:30762881G>T	ENST00000563588.1	+	4	522	c.283G>T	c.(283-285)Gat>Tat	p.D95Y	PHKG2_ENST00000328273.7_Missense_Mutation_p.D95Y|PHKG2_ENST00000424889.3_Missense_Mutation_p.D95Y|RP11-2C24.4_ENST00000483578.1_lincRNA	NM_000294.2	NP_000285.1	P15735	PHKG2_HUMAN	phosphorylase kinase, gamma 2 (testis)	95	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|positive regulation of glycogen catabolic process (GO:0045819)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)	ATP binding (GO:0005524)|phosphorylase kinase activity (GO:0004689)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			ovary(1)|skin(1)	2			Colorectal(24;0.198)			CACCCTCATCGATTCCTACGA	0.557																																						ENST00000563588.1																			0				ovary(1)|skin(1)	2						c.(283-285)Gat>Tat		phosphorylase kinase, gamma 2 (testis)							517.0	461.0	480.0					16																	30762881		2197	4300	6497	SO:0001583	missense	5261				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity	g.chr16:30762881G>T	S73483, M31606	CCDS10690.1, CCDS54002.1	16p11.2	2008-02-05			ENSG00000156873	ENSG00000156873			8931	protein-coding gene	gene with protein product		172471				2915644, 8020963	Standard	NM_000294		Approved		uc021tgo.1	P15735	OTTHUMG00000132400	ENST00000563588.1:c.283G>T	16.37:g.30762881G>T	ENSP00000455607:p.Asp95Tyr					PHKG2_ENST00000424889.3_Missense_Mutation_p.D95Y|PHKG2_ENST00000328273.7_Missense_Mutation_p.D95Y	p.D95Y	NM_000294.2	NP_000285.1	P15735	PHKG2_HUMAN	Colorectal(24;0.198)		4	522	+			95			Protein kinase.		A8K0C7|B4DEB7|E9PEU3|P11800	Missense_Mutation	SNP	ENST00000563588.1	37	c.283G>T	CCDS10690.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.951782	0.73787	.	.	ENSG00000156873	ENST00000328273;ENST00000424889	T;T	0.47177	0.85;0.85	5.16	4.2	0.49525	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.41294	D	0.000917	T	0.64494	0.2603	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.67522	-0.5649	10	0.87932	D	0	-9.8352	12.6237	0.56618	0.0823:0.0:0.9177:0.0	.	95;95	P15735;P15735-2	PHKG2_HUMAN;.	Y	95	ENSP00000329968:D95Y;ENSP00000388571:D95Y	ENSP00000329968:D95Y	D	+	1	0	PHKG2	30670382	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	9.771000	0.98977	1.172000	0.42781	-0.140000	0.14226	GAT		0.557	PHKG2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255531.2	NM_000294		17	1875	1	0	0.00010058	0.00010058	0.00856336	17	1875				
DAZAP1	26528	broad.mit.edu	37	19	1425903	1425903	+	Nonsense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr19:1425903G>T	ENST00000233078.4	+	7	651	c.490G>T	c.(490-492)Gaa>Taa	p.E164*	DAZAP1_ENST00000586579.1_Intron|DAZAP1_ENST00000336761.6_Nonsense_Mutation_p.E164*	NM_018959.2	NP_061832.2	Q96EP5	DAZP1_HUMAN	DAZ associated protein 1	164	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|maternal placenta development (GO:0001893)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTTCGAGGACGAACAATCAGT	0.413																																						ENST00000336761.6																			0				breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9						c.(490-492)Gaa>Taa		DAZ associated protein 1							288.0	247.0	261.0					19																	1425903		2203	4300	6503	SO:0001587	stop_gained	26528				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr19:1425903G>T		CCDS12065.1, CCDS12066.1	19p13.3	2013-07-16			ENSG00000071626	ENSG00000071626		"""RNA binding motif (RRM) containing"""	2683	protein-coding gene	gene with protein product	"""deleted in azoospermia associated protein 1"""	607430				10857750, 23658607	Standard	XM_005259530		Approved	MGC19907	uc002lsn.3	Q96EP5		ENST00000233078.4:c.490G>T	19.37:g.1425903G>T	ENSP00000233078:p.Glu164*					DAZAP1_ENST00000586579.1_Intron|DAZAP1_ENST00000233078.4_Nonsense_Mutation_p.E164*	p.E164*	NM_170711.1	NP_733829.1	Q96EP5	DAZP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	7	695	+		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	164			RRM 2.		Q96MJ3|Q9NRR9	Nonsense_Mutation	SNP	ENST00000233078.4	37	c.490G>T	CCDS12065.1	.	.	.	.	.	.	.	.	.	.	G	37	6.588409	0.97688	.	.	ENSG00000071626	ENST00000233078;ENST00000336761	.	.	.	4.26	3.13	0.36017	.	0.050284	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	12.8595	0.57906	0.0:0.1646:0.8353:0.0	.	.	.	.	X	164	.	ENSP00000233078:E164X	E	+	1	0	DAZAP1	1376903	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.814000	0.86154	2.085000	0.62840	0.655000	0.94253	GAA		0.413	DAZAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449522.3	NM_170711		24	920	1	0	7.16444e-05	7.16444e-05	0.00670977	24	920				
NFATC3	4775	broad.mit.edu	37	16	68208395	68208395	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr16:68208395C>A	ENST00000346183.3	+	6	1917	c.1893C>A	c.(1891-1893)atC>atA	p.I631I	NFATC3_ENST00000349223.5_Silent_p.I631I|NFATC3_ENST00000329524.4_Silent_p.I631I|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000575270.1_Silent_p.I631I	NM_173165.2	NP_775188.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	631					cellular respiration (GO:0045333)|cellular response to calcium ion (GO:0071277)|cellular response to lithium ion (GO:0071285)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|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)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		AATCCAAAATCATTTTTCTTG	0.318																																						ENST00000349223.5																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44						c.(1891-1893)atC>atA		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3							122.0	130.0	127.0					16																	68208395		2198	4300	6498	SO:0001819	synonymous_variant	4775				inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding	g.chr16:68208395C>A	L41067	CCDS10860.1, CCDS10861.1, CCDS10862.1	16q22	2009-11-24			ENSG00000072736	ENSG00000072736		"""Nuclear factor of activated T-cells"""	7777	protein-coding gene	gene with protein product		602698				7749981	Standard	NM_004555		Approved	NFAT4, NFATX	uc002evo.2	Q12968	OTTHUMG00000137555	ENST00000346183.3:c.1893C>A	16.37:g.68208395C>A						NFATC3_ENST00000346183.3_Silent_p.I631I|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000329524.4_Silent_p.I631I|NFATC3_ENST00000575270.1_Silent_p.I631I	p.I631I	NM_173163.2	NP_775186.1	Q12968	NFAC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)	6	2117	+		Ovarian(137;0.0563)	631					O75211|Q14516|Q99840|Q99841|Q99842	Silent	SNP	ENST00000346183.3	37	c.1893C>A	CCDS10860.1																																																																																				0.318	NFATC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268890.2	NM_004555		14	826	1	0	1.3612e-06	2.31682e-05	0.00025694	14	826				
ZNF649	65251	broad.mit.edu	37	19	52394652	52394652	+	Missense_Mutation	SNP	C	C	T	rs200081147		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr19:52394652C>T	ENST00000354957.3	-	5	1021	c.737G>A	c.(736-738)aGg>aAg	p.R246K	ZNF649_ENST00000600738.1_Splice_Site|CTC-429C10.2_ENST00000600329.1_RNA	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	246					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		GAGCCTGTACCTCTTGTAGAA	0.502																																						ENST00000354957.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29						c.(736-738)aGg>aAg		zinc finger protein 649							126.0	123.0	124.0					19																	52394652		2203	4300	6503	SO:0001583	missense	65251				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52394652C>T	BC005368	CCDS12843.1	19q13.41	2013-01-08				ENSG00000198093		"""Zinc fingers, C2H2-type"", ""-"""	25741	protein-coding gene	gene with protein product		611903				15950191	Standard	NM_023074		Approved	FLJ12644	uc002pxy.3	Q9BS31		ENST00000354957.3:c.737G>A	19.37:g.52394652C>T	ENSP00000347043:p.Arg246Lys					CTC-429C10.2_ENST00000600329.1_RNA|ZNF649_ENST00000600738.1_Splice_Site	p.R246K	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)	5	1021	-		all_neural(266;0.0602)	246					A8MYJ5|B2RDC4|Q9H9N2	Missense_Mutation	SNP	ENST00000354957.3	37	c.737G>A	CCDS12843.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	0.012	-1.651653	0.00785	.	.	ENSG00000198093	ENST00000354957	T	0.03951	3.75	2.35	-2.86	0.05717	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01661	0.0053	N	0.02708	-0.52	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45862	-0.9232	9	0.02654	T	1	.	8.4533	0.32884	0.0:0.4449:0.0:0.5551	.	246	Q9BS31	ZN649_HUMAN	K	246	ENSP00000347043:R246K	ENSP00000347043:R246K	R	-	2	0	ZNF649	57086464	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.392000	0.02523	-0.839000	0.04212	-1.750000	0.00680	AGG		0.502	ZNF649-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461097.1	NM_023074		8	677	0	0	0	2.17888e-05	0	8	677				
COL6A5	256076	broad.mit.edu	37	3	130174477	130174477	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr3:130174477C>A	ENST00000432398.2	+	37	7251	c.6757C>A	c.(6757-6759)Caa>Aaa	p.Q2253K	COL6A5_ENST00000265379.6_Missense_Mutation_p.Q2253K	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2253	Nonhelical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.Q292K(1)|p.Q2253K(1)		endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TGAAAAAGATCAAAAATCTGC	0.333																																						ENST00000265379.6																			2	Substitution - Missense(2)	p.Q292K(1)|p.Q2253K(1)	kidney(2)	endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						c.(6757-6759)Caa>Aaa		collagen, type VI, alpha 5							49.0	48.0	49.0					3																	130174477		1804	4064	5868	SO:0001583	missense	256076				axon guidance|cell adhesion	collagen		g.chr3:130174477C>A	AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.6757C>A	3.37:g.130174477C>A	ENSP00000390895:p.Gln2253Lys					COL6A5_ENST00000432398.2_Missense_Mutation_p.Q2253K	p.Q2253K			A8TX70	CO6A5_HUMAN			37	7251	+			2253			Nonhelical region.		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	ENST00000432398.2	37	c.6757C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.821|3.821	-0.037685|-0.037685	0.07497|0.07497	.|.	.|.	ENSG00000172752|ENSG00000172752	ENST00000432398;ENST00000265379;ENST00000373157;ENST00000512482|ENST00000512836	D;D;T;T|.	0.88818|.	-2.34;-2.43;-0.87;-0.75|.	4.26|4.26	0.026|0.026	0.14148|0.14148	.|.	2.119150|.	0.02670|.	N|.	0.108475|.	T|.	0.21841|.	0.0526|.	N|N	0.17474|0.17474	0.49|0.49	0.09310|0.09310	N|N	1|1	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.04013|.	0.0;0.001|.	T|.	0.30031|.	-0.9992|.	10|.	0.02654|.	T|.	1|.	.|.	8.2937|8.2937	0.31973|0.31973	0.3027:0.5542:0.1431:0.0|0.3027:0.5542:0.1431:0.0	.|.	2253;2253|.	A8TX70;A8TX70-2|.	CO6A5_HUMAN;.|.	K|X	2253;2253;196;88|504	ENSP00000390895:Q2253K;ENSP00000265379:Q2253K;ENSP00000362250:Q196K;ENSP00000424968:Q88K|.	ENSP00000265379:Q2253K|.	Q|S	+|+	1|2	0|0	COL6A5|COL6A5	131657167|131657167	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-0.464000|-0.464000	0.06688|0.06688	0.170000|0.170000	0.19704|0.19704	-0.846000|-0.846000	0.03041|0.03041	CAA|TCA		0.333	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264		8	321	1	0	2.17888e-05	2.17888e-05	0.002749	8	321				
UGT2B10	7365	broad.mit.edu	37	4	69683833	69683833	+	Missense_Mutation	SNP	T	T	C			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr4:69683833T>C	ENST00000265403.7	+	2	832	c.805T>C	c.(805-807)Ttc>Ctc	p.F269L	UGT2B10_ENST00000458688.2_Missense_Mutation_p.F185L	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	269					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						TCCTCATCCATTCTTACCAAA	0.388																																					Melanoma(133;755 1763 25578 26334 46021)	ENST00000265403.7																			0				endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						c.(805-807)Ttc>Ctc		UDP glucuronosyltransferase 2 family, polypeptide B10							161.0	168.0	166.0					4																	69683833		2203	4298	6501	SO:0001583	missense	7365				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69683833T>C	X63359	CCDS75135.1, CCDS75136.1	4q13.3	2008-02-05	2005-07-20			ENSG00000109181		"""UDP glucuronosyltransferases"""	12544	protein-coding gene	gene with protein product		600070	"""UDP glycosyltransferase 2 family, polypeptide B10"""			8333863	Standard	NM_001075		Approved		uc003hee.3	P36537		ENST00000265403.7:c.805T>C	4.37:g.69683833T>C	ENSP00000265403:p.Phe269Leu					UGT2B10_ENST00000458688.2_Missense_Mutation_p.F185L	p.F269L	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN			2	832	+			269					A8K9M3|B4DPP1|Q14CR8	Missense_Mutation	SNP	ENST00000265403.7	37	c.805T>C		.	.	.	.	.	.	.	.	.	.	t	0.001	-2.962311	0.00049	.	.	ENSG00000109181	ENST00000265403;ENST00000458688	T;T	0.54675	0.56;0.56	2.66	-5.02	0.02982	.	0.305292	0.30277	N	0.009989	T	0.13884	0.0336	N	0.02169	-0.655	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.24905	-1.0147	10	0.02654	T	1	.	3.7802	0.08677	0.2656:0.2148:0.0:0.5196	.	185;269	B4DPP1;P36537	.;UDB10_HUMAN	L	269;185	ENSP00000265403:F269L;ENSP00000413420:F185L	ENSP00000265403:F269L	F	+	1	0	UGT2B10	69718422	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.207000	0.09384	-1.970000	0.01003	-2.800000	0.00114	TTC		0.388	UGT2B10-001	KNOWN	non_canonical_polymorphism|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365169.1	NM_001075		7	1122	0	0	0	3.59834e-05	0	7	1122				
DLK2	65989	broad.mit.edu	37	6	43418947	43418947	+	Missense_Mutation	SNP	C	C	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr6:43418947C>T	ENST00000357338.3	-	6	1182	c.482G>A	c.(481-483)cGc>cAc	p.R161H	DLK2_ENST00000372485.1_Missense_Mutation_p.R155H|DLK2_ENST00000414245.1_Missense_Mutation_p.R155H|DLK2_ENST00000372488.3_Missense_Mutation_p.R161H	NM_206539.1	NP_996262.1	Q6UY11	DLK2_HUMAN	delta-like 2 homolog (Drosophila)	161	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				negative regulation of Notch signaling pathway (GO:0045746)|regulation of fat cell differentiation (GO:0045598)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CACCAAGCAGCGGCACGTGAA	0.592																																						ENST00000357338.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7						c.(481-483)cGc>cAc		delta-like 2 homolog (Drosophila)							79.0	54.0	62.0					6																	43418947		2203	4300	6503	SO:0001583	missense	65989					integral to membrane	calcium ion binding	g.chr6:43418947C>T	AK055380	CCDS4897.1, CCDS75461.1	6p21.1	2008-02-05	2007-07-05	2007-07-05	ENSG00000171462	ENSG00000171462			21113	protein-coding gene	gene with protein product			"""EGF-like-domain, multiple 9"""	EGFL9			Standard	NM_001286656		Approved	MGC2487	uc003ovb.3	Q6UY11	OTTHUMG00000014735	ENST00000357338.3:c.482G>A	6.37:g.43418947C>T	ENSP00000349893:p.Arg161His					DLK2_ENST00000372485.1_Missense_Mutation_p.R155H|DLK2_ENST00000414245.1_Missense_Mutation_p.R155H|DLK2_ENST00000372488.3_Missense_Mutation_p.R161H	p.R161H	NM_206539.1	NP_996262.1	Q6UY11	DLK2_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		6	1182	-	all_lung(25;0.00536)		161			EGF-like 4.		B3KNZ7|Q5T3T8|Q9BQ54	Missense_Mutation	SNP	ENST00000357338.3	37	c.482G>A	CCDS4897.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.07|18.07	3.542004|3.542004	0.65198|0.65198	.|.	.|.	ENSG00000171462|ENSG00000171462	ENST00000430324|ENST00000372485;ENST00000372488;ENST00000357338;ENST00000414245	.|D;D;D;D	.|0.87809	.|-2.3;-2.3;-2.3;-2.3	4.51|4.51	4.51|4.51	0.55191|0.55191	.|Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.67297|0.67297	0.2878|0.2878	N|N	0.21373|0.21373	0.66|0.66	0.46167|0.46167	D|D	0.998909|0.998909	.|P	.|0.51240	.|0.943	.|B	.|0.40410	.|0.328	T|T	0.68655|0.68655	-0.5351|-0.5351	5|10	.|0.19147	.|T	.|0.46	.|.	12.2573|12.2573	0.54631|0.54631	0.0:0.9171:0.0:0.0829|0.0:0.9171:0.0:0.0829	.|.	.|161	.|Q6UY11	.|DLK2_HUMAN	T|H	67|155;161;161;155	.|ENSP00000361563:R155H;ENSP00000361566:R161H;ENSP00000349893:R161H;ENSP00000398906:R155H	.|ENSP00000349893:R161H	A|R	-|-	1|2	0|0	DLK2|DLK2	43526925|43526925	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.838000|0.838000	0.47535|0.47535	2.486000|2.486000	0.45259|0.45259	2.507000|2.507000	0.84556|0.84556	0.455000|0.455000	0.32223|0.32223	GCT|CGC		0.592	DLK2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040618.1	NM_023932		6	169	0	0	0	5.18039e-06	0	6	169				
SLC1A4	6509	broad.mit.edu	37	2	65228619	65228619	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr2:65228619C>A	ENST00000234256.3	+	2	808	c.565C>A	c.(565-567)Cgt>Agt	p.R189S	SLC1A4_ENST00000531327.1_5'UTR|SLC1A4_ENST00000493121.1_3'UTR	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN	solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	189					amino acid transport (GO:0006865)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|cognition (GO:0050890)|glutamine transport (GO:0006868)|hydroxyproline transport (GO:0034589)|ion transport (GO:0006811)|L-alanine transport (GO:0015808)|L-cystine transport (GO:0015811)|L-serine transport (GO:0015825)|proline transmembrane transport (GO:0035524)|proline transport (GO:0015824)|synaptic transmission, glutamatergic (GO:0035249)|threonine transport (GO:0015826)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|centrosome (GO:0005813)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament (GO:0005882)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|L-alanine transmembrane transporter activity (GO:0015180)|L-cystine transmembrane transporter activity (GO:0015184)|L-glutamine transmembrane transporter activity (GO:0015186)|L-hydroxyproline transmembrane transporter activity (GO:0034590)|L-proline transmembrane transporter activity (GO:0015193)|L-serine transmembrane transporter activity (GO:0015194)|L-threonine transmembrane transporter activity (GO:0015195)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13					L-Alanine(DB00160)	TGCAGCTTTCCGTACGGTAAG	0.373																																						ENST00000234256.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13						c.(565-567)Cgt>Agt		solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	L-Alanine(DB00160)						153.0	143.0	147.0					2																	65228619		2203	4300	6503	SO:0001583	missense	6509				cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic	intermediate filament|melanosome	chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr2:65228619C>A		CCDS1879.1, CCDS54362.1	2p15-p13	2013-05-22			ENSG00000115902	ENSG00000115902		"""Solute carriers"""	10942	protein-coding gene	gene with protein product	"""alanine/serine/cysteine/threonine transporter"""	600229				7896285, 8910405	Standard	NM_003038		Approved	SATT, ASCT1	uc010yqa.2	P43007	OTTHUMG00000129537	ENST00000234256.3:c.565C>A	2.37:g.65228619C>A	ENSP00000234256:p.Arg189Ser					SLC1A4_ENST00000493121.1_3'UTR|SLC1A4_ENST00000531327.1_5'UTR	p.R189S	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN			2	808	+			189					B7Z3C0|D6W5F0	Missense_Mutation	SNP	ENST00000234256.3	37	c.565C>A	CCDS1879.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.646307	0.47258	.	.	ENSG00000115902	ENST00000448784;ENST00000234256	T	0.58060	0.36	6.17	3.39	0.38822	.	0.422704	0.29046	N	0.013305	T	0.35364	0.0929	N	0.25031	0.7	0.80722	D	1	B;B	0.10296	0.003;0.003	B;B	0.22386	0.026;0.039	T	0.08848	-1.0702	10	0.39692	T	0.17	-23.7892	6.4387	0.21837	0.2407:0.5793:0.1161:0.0639	.	189;189	P43007;B2R7N6	SATT_HUMAN;.	S	109;189	ENSP00000234256:R189S	ENSP00000234256:R189S	R	+	1	0	SLC1A4	65082123	0.033000	0.19621	0.115000	0.21578	0.961000	0.63080	2.576000	0.46033	0.455000	0.26910	0.655000	0.94253	CGT		0.373	SLC1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251726.2	NM_003038		9	860	1	0	6.40141e-05	6.40141e-05	0.00606515	9	860				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	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		5	260	0	0	0	1.23904e-05	0	5	260				
ZNF385B	151126	broad.mit.edu	37	2	180311341	180311341	+	Nonsense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr2:180311341G>T	ENST00000410066.1	-	7	1430	c.827C>A	c.(826-828)tCa>tAa	p.S276*	ZNF385B_ENST00000409692.1_Nonsense_Mutation_p.S174*|ZNF385B_ENST00000336917.5_Nonsense_Mutation_p.S174*|ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000409343.1_Nonsense_Mutation_p.S200*	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	276	Interaction with p53/TP53.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|p53 binding (GO:0002039)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			TTCTTCTTCTGATTCAACAAC	0.478																																					Colon(155;204 2491 32774 51842)	ENST00000410066.1																			0				breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26						c.(826-828)tCa>tAa		zinc finger protein 385B							108.0	110.0	109.0					2																	180311341		2203	4300	6503	SO:0001587	stop_gained	151126					nucleus	nucleic acid binding|zinc ion binding	g.chr2:180311341G>T	AK057999	CCDS33339.1, CCDS46463.1, CCDS46464.1	2q31.3-q32.1	2012-10-05	2007-12-06	2007-12-06	ENSG00000144331	ENSG00000144331			26332	protein-coding gene	gene with protein product		612344	"""zinc finger protein 533"""	ZNF533		12477932	Standard	NM_152520		Approved	FLJ25270	uc002unn.4	Q569K4	OTTHUMG00000154559	ENST00000410066.1:c.827C>A	2.37:g.180311341G>T	ENSP00000386845:p.Ser276*					ZNF385B_ENST00000409343.1_Nonsense_Mutation_p.S200*|ZNF385B_ENST00000409692.1_Nonsense_Mutation_p.S174*|ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000336917.5_Nonsense_Mutation_p.S174*	p.S276*	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)		7	1430	-			276					Q49A04|Q6ZMZ7|Q8IY01|Q8N8H2|Q96DK4	Nonsense_Mutation	SNP	ENST00000410066.1	37	c.827C>A	CCDS33339.1	.	.	.	.	.	.	.	.	.	.	G	37	6.259971	0.97421	.	.	ENSG00000144331	ENST00000410066;ENST00000336917;ENST00000409343;ENST00000409692;ENST00000457304	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	0.808	20.1338	0.98010	0.0:0.0:1.0:0.0	.	.	.	.	X	276;174;200;174;174	.	ENSP00000338225:S174X	S	-	2	0	ZNF385B	180019586	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.624000	0.98398	2.770000	0.95276	0.655000	0.94253	TCA		0.478	ZNF385B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335972.1	NM_152520		11	523	1	0	2.27111e-07	0.00010058	4.53291e-05	11	523				
BMS1P20	96610	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G	rs187344612		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	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	115	0	0	0	2.56e-06	0	4	115				
PIGB	9488	broad.mit.edu	37	15	55642957	55642957	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr15:55642957C>A	ENST00000164305.5	+	10	1475	c.1184C>A	c.(1183-1185)tCa>tAa	p.S395*	PIGB_ENST00000539642.1_Nonsense_Mutation_p.S200*|CCPG1_ENST00000563294.1_5'Flank	NM_004855.4	NP_004846.4	Q92521	PIGB_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class B	395					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	mannosyltransferase activity (GO:0000030)			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11				all cancers(107;0.0255)		CTGTTTTTATCAAATTTGTTC	0.343																																						ENST00000164305.5																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11						c.(1183-1185)tCa>tAa		phosphatidylinositol glycan anchor biosynthesis, class B							149.0	149.0	149.0					15																	55642957		1821	4071	5892	SO:0001587	stop_gained	9488				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	integral to membrane|intrinsic to endoplasmic reticulum membrane	glycolipid mannosyltransferase activity	g.chr15:55642957C>A	D42138	CCDS61641.1	15q21.3	2013-02-26	2006-06-28		ENSG00000069943	ENSG00000069943		"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"", ""Phosphatidylinositol glycan anchor biosynthesis"""	8959	protein-coding gene	gene with protein product	"""GPI mannosyltransferase 3"", ""dol-P-Man dependent GPI mannosyltransferase"""	604122	"""phosphatidylinositol glycan, class B"""			8861954	Standard	NM_004855		Approved		uc002act.3	Q92521	OTTHUMG00000172654	ENST00000164305.5:c.1184C>A	15.37:g.55642957C>A	ENSP00000164305:p.Ser395*					PIGB_ENST00000539642.1_Nonsense_Mutation_p.S200*	p.S395*	NM_004855.4	NP_004846.4	Q92521	PIGB_HUMAN		all cancers(107;0.0255)	10	1475	+			395					Q53FF9|Q8WVN7	Nonsense_Mutation	SNP	ENST00000164305.5	37	c.1184C>A		.	.	.	.	.	.	.	.	.	.	C	40	8.168956	0.98688	.	.	ENSG00000069943	ENST00000164305;ENST00000539642	.	.	.	6.08	5.16	0.70880	.	0.432063	0.25863	N	0.027801	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-11.2184	14.3722	0.66849	0.0:0.9296:0.0:0.0704	.	.	.	.	X	395;200	.	ENSP00000164305:S395X	S	+	2	0	PIGB	53430249	1.000000	0.71417	0.875000	0.34327	0.980000	0.70556	3.396000	0.52565	1.575000	0.49775	0.591000	0.81541	TCA		0.343	PIGB-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000419687.1	NM_004855		13	888	1	0	9.31168e-06	9.31168e-06	0.00133376	13	888				
PLEKHG1	57480	broad.mit.edu	37	6	151153189	151153189	+	Missense_Mutation	SNP	G	G	A	rs113595784	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr6:151153189G>A	ENST00000358517.2	+	15	3153	c.2942G>A	c.(2941-2943)cGg>cAg	p.R981Q	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.R981Q			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	981							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		ATGATGGCTCGGCAGTACAGT	0.507																																						ENST00000367328.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53						c.(2941-2943)cGg>cAg		pleckstrin homology domain containing, family G (with RhoGef domain) member 1							110.0	123.0	118.0					6																	151153189		2203	4300	6503	SO:0001583	missense	57480				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:151153189G>A	AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.2942G>A	6.37:g.151153189G>A	ENSP00000351318:p.Arg981Gln					PLEKHG1_ENST00000358517.2_Missense_Mutation_p.R981Q	p.R981Q	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)	16	3254	+			981					Q5T1F2	Missense_Mutation	SNP	ENST00000358517.2	37	c.2942G>A	CCDS34552.1	.	.	.	.	.	.	.	.	.	.	G	35	5.451520	0.96205	.	.	ENSG00000120278	ENST00000367328;ENST00000358517	T;T	0.30448	1.53;1.53	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.50888	0.1642	M	0.68952	2.095	0.52501	D	0.999954	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.51108	-0.8747	10	0.87932	D	0	.	20.0825	0.97783	0.0:0.0:1.0:0.0	.	788;981;981	Q5EBL9;Q5JYA6;Q9ULL1	.;.;PKHG1_HUMAN	Q	981	ENSP00000356297:R981Q;ENSP00000351318:R981Q	ENSP00000351318:R981Q	R	+	2	0	PLEKHG1	151194882	1.000000	0.71417	0.996000	0.52242	0.983000	0.72400	9.476000	0.97823	2.746000	0.94184	0.655000	0.94253	CGG		0.507	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1			12	773	0	0	0	6.40141e-05	0	12	773				
ANKRD30A	91074	broad.mit.edu	37	10	37431050	37431050	+	Missense_Mutation	SNP	G	G	C	rs201391167		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr10:37431050G>C	ENST00000602533.1	+	7	1156	c.1057G>C	c.(1057-1059)Gca>Cca	p.A353P	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.A353P|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.A353P			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	409					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A353P(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ATTTACGTGGGCAGCAAAAGG	0.408																																						ENST00000374660.1																			1	Substitution - Missense(1)	p.A353P(1)	lung(1)	NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(1057-1059)Gca>Cca		ankyrin repeat domain 30A							102.0	102.0	102.0					10																	37431050		1853	4086	5939	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37431050G>C	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.1057G>C	10.37:g.37431050G>C	ENSP00000473551:p.Ala353Pro					ANKRD30A_ENST00000361713.1_Missense_Mutation_p.A353P|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.A353P	p.A353P			Q9BXX3	AN30A_HUMAN			7	1156	+			409					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.1057G>C		.	.	.	.	.	.	.	.	.	.	.	2.178	-0.388156	0.04932	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.39592	1.19;1.07	.	.	.	.	.	.	.	.	T	0.28300	0.0699	N	0.08118	0	0.09310	N	1	P	0.48350	0.909	P	0.51297	0.665	T	0.16188	-1.0411	7	0.33141	T	0.24	.	.	.	.	.	409	Q9BXX3	AN30A_HUMAN	P	353	ENSP00000354432:A353P;ENSP00000363792:A353P	ENSP00000354432:A353P	A	+	1	0	ANKRD30A	37471056	0.782000	0.28689	0.179000	0.23059	0.179000	0.23085	-0.616000	0.05591	0.088000	0.17205	0.089000	0.15464	GCA		0.408	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		5	568	0	0	0	5.18039e-06	0	5	568				
JPH1	56704	broad.mit.edu	37	8	75149493	75149493	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr8:75149493C>A	ENST00000342232.4	-	5	1991	c.1951G>T	c.(1951-1953)Ggg>Tgg	p.G651W	JPH1_ENST00000518195.1_5'UTR	NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	651					calcium ion transport into cytosol (GO:0060402)|muscle organ development (GO:0007517)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.G651W(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			ATGGCCAACCCGATATTCAAC	0.318																																						ENST00000342232.4																			1	Substitution - Missense(1)	p.G651W(1)	lung(1)	endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24						c.(1951-1953)Ggg>Tgg		junctophilin 1							107.0	99.0	102.0					8																	75149493		2203	4300	6503	SO:0001583	missense	56704				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr8:75149493C>A	AB042634	CCDS6217.1	8q21	2008-07-03			ENSG00000104369	ENSG00000104369			14201	protein-coding gene	gene with protein product		605266				10891348, 10949023	Standard	XM_005251273		Approved	JP-1	uc003yae.3	Q9HDC5	OTTHUMG00000164524	ENST00000342232.4:c.1951G>T	8.37:g.75149493C>A	ENSP00000344488:p.Gly651Trp					JPH1_ENST00000518195.1_5'UTR	p.G651W	NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)		5	1991	-	Breast(64;0.00576)		651					B2RTZ0	Missense_Mutation	SNP	ENST00000342232.4	37	c.1951G>T	CCDS6217.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.335460	0.81801	.	.	ENSG00000104369	ENST00000342232	T	0.78924	-1.22	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.87545	0.6204	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88263	0.2924	10	0.87932	D	0	.	19.008	0.92859	0.0:1.0:0.0:0.0	.	651	Q9HDC5	JPH1_HUMAN	W	651	ENSP00000344488:G651W	ENSP00000344488:G651W	G	-	1	0	JPH1	75312047	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.943000	0.75934	2.740000	0.93945	0.650000	0.86243	GGG		0.318	JPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379102.1			9	864	1	0	6.40141e-05	6.40141e-05	0.00606515	9	864				
RBBP5	5929	broad.mit.edu	37	1	205073048	205073048	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr1:205073048C>A	ENST00000264515.6	-	5	600	c.459G>T	c.(457-459)ttG>ttT	p.L153F	RBBP5_ENST00000484379.1_5'Flank|RBBP5_ENST00000367164.1_Missense_Mutation_p.L153F	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	retinoblastoma binding protein 5	153					cellular response to DNA damage stimulus (GO:0006974)|histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	methylated histone binding (GO:0035064)|transcription regulatory region DNA binding (GO:0044212)			cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			CCACAACGTTCAAATCGGAGT	0.458																																						ENST00000264515.6																			0				cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27						c.(457-459)ttG>ttT		retinoblastoma binding protein 5							207.0	196.0	199.0					1																	205073048		2203	4300	6503	SO:0001583	missense	5929				histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent	MLL1 complex|Set1C/COMPASS complex	methylated histone residue binding|transcription regulatory region DNA binding	g.chr1:205073048C>A	BC053856	CCDS30983.1, CCDS53463.1	1q32	2013-01-10	2001-11-28		ENSG00000117222	ENSG00000117222		"""WD repeat domain containing"""	9888	protein-coding gene	gene with protein product	"""SWD1, Set1c WD40 repeat protein, homolog (S. cerevisiae)"""	600697	"""retinoblastoma-binding protein 5"""			7558034	Standard	NM_005057		Approved	RBQ3, SWD1	uc001hbu.2	Q15291	OTTHUMG00000037104	ENST00000264515.6:c.459G>T	1.37:g.205073048C>A	ENSP00000264515:p.Leu153Phe					RBBP5_ENST00000367164.1_Missense_Mutation_p.L153F	p.L153F	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0923)		5	600	-	Breast(84;0.0505)		153					A8K272|Q7Z6D8|Q8NDZ7	Missense_Mutation	SNP	ENST00000264515.6	37	c.459G>T	CCDS30983.1	.	.	.	.	.	.	.	.	.	.	C	12.43	1.935417	0.34189	.	.	ENSG00000117222	ENST00000264515;ENST00000367164	T;T	0.60920	0.15;0.17	6.14	6.14	0.99180	WD40/YVTN repeat-like-containing domain (1);	0.128869	0.53938	D	0.000056	T	0.69522	0.3120	M	0.80616	2.505	0.80722	D	1	D;D;D;D	0.69078	0.997;0.994;0.99;0.983	D;P;P;P	0.63597	0.916;0.854;0.88;0.762	T	0.66432	-0.5925	10	0.09843	T	0.71	.	9.3503	0.38133	0.0:0.6767:0.2503:0.073	.	26;188;153;153	B4DLF8;B4DMM7;Q15291-2;Q15291	.;.;.;RBBP5_HUMAN	F	153	ENSP00000264515:L153F;ENSP00000356132:L153F	ENSP00000264515:L153F	L	-	3	2	RBBP5	203339671	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.139000	0.31504	2.937000	0.99478	0.650000	0.86243	TTG		0.458	RBBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090077.1	NM_005057		13	823	1	0	0.00010058	0.00010058	0.00856336	13	823				
ANKLE2	23141	broad.mit.edu	37	12	133304629	133304629	+	Silent	SNP	C	C	A	rs371985719		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr12:133304629C>A	ENST00000357997.5	-	12	2693	c.2604G>T	c.(2602-2604)tcG>tcT	p.S868S	ANKLE2_ENST00000542657.1_Silent_p.S223S|ANKLE2_ENST00000542374.1_5'UTR|ANKLE2_ENST00000539605.1_Silent_p.S806S|ANKLE2_ENST00000542282.1_Silent_p.S223S	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	868					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)	p.S868S(1)		NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		TCTGTCTGTCCGAGGGTGAGT	0.572																																						ENST00000539605.1																			1	Substitution - coding silent(1)	p.S868S(1)	lung(1)	NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45						c.(2416-2418)tcG>tcT		ankyrin repeat and LEM domain containing 2							119.0	130.0	126.0					12																	133304629		1996	4148	6144	SO:0001819	synonymous_variant	23141					cytoplasm|integral to membrane|nuclear envelope		g.chr12:133304629C>A	AB014592	CCDS41869.1	12q24.33	2013-01-11	2008-03-25	2008-03-25	ENSG00000176915	ENSG00000176915		"""Ankyrin repeat domain containing"""	29101	protein-coding gene	gene with protein product	"""LEM domain containing 7"""		"""KIAA0692"""	KIAA0692		9734811	Standard	XM_005266159		Approved	LEMD7, Lem4	uc001ukx.2	Q86XL3	OTTHUMG00000168046	ENST00000357997.5:c.2604G>T	12.37:g.133304629C>A						ANKLE2_ENST00000542374.1_5'UTR|ANKLE2_ENST00000542282.1_Silent_p.S223S|ANKLE2_ENST00000357997.5_Silent_p.S868S|ANKLE2_ENST00000542657.1_Silent_p.S223S	p.S806S			Q86XL3	ANKL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)	11	9102	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	868					A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	Silent	SNP	ENST00000357997.5	37	c.2418G>T	CCDS41869.1																																																																																				0.572	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397712.1			10	873	1	0	6.40141e-05	6.40141e-05	0.00606515	10	873				
IFT88	8100	broad.mit.edu	37	13	21230565	21230565	+	Silent	SNP	C	C	A	rs147013462	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr13:21230565C>A	ENST00000319980.6	+	24	2418	c.2091C>A	c.(2089-2091)gtC>gtA	p.V697V	IFT88_ENST00000382778.4_Silent_p.V697V|IFT88_ENST00000351808.5_Silent_p.V688V|IFT88_ENST00000537103.1_Silent_p.V669V	NM_175605.3	NP_783195.2	Q13099	IFT88_HUMAN	intraflagellar transport 88	697					anterior/posterior pattern specification (GO:0009952)|cardiac muscle cell differentiation (GO:0055007)|cardiac septum morphogenesis (GO:0060411)|cilium morphogenesis (GO:0060271)|cochlea development (GO:0090102)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|embryonic digit morphogenesis (GO:0042733)|epidermal stem cell homeostasis (GO:0036334)|epidermis development (GO:0008544)|epithelial cell morphogenesis (GO:0003382)|eye development (GO:0001654)|forebrain morphogenesis (GO:0048853)|heart formation (GO:0060914)|inner ear receptor stereocilium organization (GO:0060122)|kidney development (GO:0001822)|liver development (GO:0001889)|lung vasculature development (GO:0060426)|negative regulation of epithelial cell proliferation (GO:0050680)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|pancreas development (GO:0031016)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|protein localization (GO:0008104)|regulation of autophagic vacuole assembly (GO:2000785)|regulation of cilium assembly (GO:1902017)|regulation of fat cell differentiation (GO:0045598)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of protein processing (GO:0070613)|regulation of smoothened signaling pathway (GO:0008589)|response to fluid shear stress (GO:0034405)|smoothened signaling pathway (GO:0007224)|sperm axoneme assembly (GO:0007288)|spermatid nucleus elongation (GO:0007290)|spinal cord dorsal/ventral patterning (GO:0021513)|telencephalon development (GO:0021537)	acrosomal membrane (GO:0002080)|apical part of cell (GO:0045177)|axonemal basal plate (GO:0097541)|centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|kinocilium (GO:0060091)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)|photoreceptor connecting cilium (GO:0032391)				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		CAGAAAATGTCGAATGTAAGT	0.259																																						ENST00000382778.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27						c.(2089-2091)gtC>gtA		intraflagellar transport 88 homolog (Chlamydomonas)							57.0	59.0	59.0					13																	21230565		2181	4246	6427	SO:0001819	synonymous_variant	8100				cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding	g.chr13:21230565C>A	AK058172	CCDS31944.1, CCDS31945.1	13q12.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000032742	ENSG00000032742		"""Intraflagellar transport homologs"", ""Tetratricopeptide (TTC) repeat domain containing"""	20606	protein-coding gene	gene with protein product	"""polaris homolog"""	600595	"""tetratricopeptide repeat domain 10"", ""intraflagellar transport 88 homolog (Chlamydomonas)"""	TTC10		7633404	Standard	XM_005266546		Approved	hTg737, Tg737, D13S1056E, MGC26259	uc001uni.3	Q13099	OTTHUMG00000016517	ENST00000319980.6:c.2091C>A	13.37:g.21230565C>A						IFT88_ENST00000351808.5_Silent_p.V688V|IFT88_ENST00000537103.1_Silent_p.V669V|IFT88_ENST00000319980.6_Silent_p.V697V	p.V697V			Q13099	IFT88_HUMAN		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)	23	3209	+		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)	697					A2A491|B4DUS2|Q5SZJ6|Q8N719	Silent	SNP	ENST00000319980.6	37	c.2091C>A	CCDS31944.1																																																																																				0.259	IFT88-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044075.3	NM_006531		10	401	1	0	9.31168e-06	9.31168e-06	0.00133376	10	401				
PRSS3P2	154754	broad.mit.edu	37	7	142482229	142482229	+	RNA	SNP	T	T	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr7:142482229T>A	ENST00000603901.1	+	0	609					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)	p.P203P(1)									CTGGTGGCCCTGTGGTCTGCA	0.493																																						ENST00000603901.1																			1	Substitution - coding silent(1)	p.P203P(1)	prostate(1)																																																0							g.chr7:142482229T>A			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142482229T>A								NR_001296.3						0	609	+									RNA	SNP	ENST00000603901.1	37																																																																																						0.493	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		7	152	0	0	0	3.86212e-05	0	7	152				
CDCA2	157313	broad.mit.edu	37	8	25319666	25319666	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr8:25319666G>T	ENST00000330560.3	+	4	806	c.329G>T	c.(328-330)cGg>cTg	p.R110L	CDCA2_ENST00000380665.3_Missense_Mutation_p.R95L	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	110					mitotic nuclear division (GO:0007067)|positive regulation of protein dephosphorylation (GO:0035307)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		TTCATTGCTCGGCAGCAAAAT	0.423																																						ENST00000330560.3																			0				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35						c.(328-330)cGg>cTg		cell division cycle associated 2							95.0	96.0	96.0					8																	25319666		2203	4300	6503	SO:0001583	missense	157313				cell division|mitosis	cytoplasm|nucleus		g.chr8:25319666G>T	BG354575	CCDS6049.1	8p21.2	2014-06-12			ENSG00000184661	ENSG00000184661			14623	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 81"""					12188893, 16492807	Standard	NM_152562		Approved	Repo-Man, PPP1R81	uc003xep.1	Q69YH5	OTTHUMG00000099429	ENST00000330560.3:c.329G>T	8.37:g.25319666G>T	ENSP00000328228:p.Arg110Leu					CDCA2_ENST00000380665.3_Missense_Mutation_p.R95L	p.R110L	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)	4	806	+		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)	110					Q3SX74|Q4G0W0|Q5RKN0|Q69YI4|Q6P464|Q8N7C1	Missense_Mutation	SNP	ENST00000330560.3	37	c.329G>T	CCDS6049.1	.	.	.	.	.	.	.	.	.	.	G	14.73	2.621391	0.46736	.	.	ENSG00000184661	ENST00000330560;ENST00000380665	T;T	0.34072	1.38;1.38	5.4	4.14	0.48551	.	0.389705	0.20703	N	0.087238	T	0.25644	0.0624	L	0.29908	0.895	0.32580	N	0.528554	B;B;B	0.23937	0.094;0.043;0.043	B;B;B	0.20384	0.018;0.029;0.029	T	0.25606	-1.0127	10	0.66056	D	0.02	-5.2524	8.0077	0.30334	0.9055:0.0:0.0945:0.0	.	110;95;110	B7Z5Q5;E9PEI0;Q69YH5	.;.;CDCA2_HUMAN	L	110;95	ENSP00000328228:R110L;ENSP00000370040:R95L	ENSP00000328228:R110L	R	+	2	0	CDCA2	25375583	1.000000	0.71417	1.000000	0.80357	0.737000	0.42083	2.167000	0.42415	0.864000	0.35578	-0.657000	0.03884	CGG		0.423	CDCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216891.3	NM_152562		18	666	1	0	7.07596e-05	7.07596e-05	0.00665249	18	666				
IQGAP3	128239	broad.mit.edu	37	1	156510545	156510545	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr1:156510545C>A	ENST00000361170.2	-	23	2704	c.2694G>T	c.(2692-2694)atG>atT	p.M898I	IQGAP3_ENST00000498755.1_5'Flank	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	898					activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCTTGATGTCCATGATGTTGA	0.562																																						ENST00000361170.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75						c.(2692-2694)atG>atT		IQ motif containing GTPase activating protein 3							174.0	127.0	143.0					1																	156510545		2203	4300	6503	SO:0001583	missense	128239				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity	g.chr1:156510545C>A	AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.2694G>T	1.37:g.156510545C>A	ENSP00000354451:p.Met898Ile						p.M898I	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN			23	2704	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		898					Q5T3H8	Missense_Mutation	SNP	ENST00000361170.2	37	c.2694G>T	CCDS1144.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.737875	0.89573	.	.	ENSG00000183856	ENST00000361170	T	0.03035	4.07	4.8	4.8	0.61643	.	0.046269	0.85682	D	0.000000	T	0.13072	0.0317	M	0.86740	2.835	0.80722	D	1	P	0.50528	0.936	P	0.61201	0.885	T	0.00238	-1.1889	10	0.72032	D	0.01	-21.3897	15.4029	0.74855	0.0:1.0:0.0:0.0	.	898	Q86VI3	IQGA3_HUMAN	I	898	ENSP00000354451:M898I	ENSP00000354451:M898I	M	-	3	0	IQGAP3	154777169	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.647000	0.83462	2.483000	0.83821	0.655000	0.94253	ATG		0.562	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229		9	425	1	0	3.86212e-05	3.86212e-05	0.00414285	9	425				
EFCAB6	64800	broad.mit.edu	37	22	44127685	44127685	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr22:44127685C>A	ENST00000262726.7	-	8	904	c.651G>T	c.(649-651)tcG>tcT	p.S217S	EFCAB6_ENST00000396231.2_Silent_p.S65S|EFCAB6_ENST00000358439.4_Silent_p.S111S|EFCAB6_ENST00000356087.4_Silent_p.S111S	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	217					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TGTAGTGTTTCGAAAACCTAA	0.333																																						ENST00000262726.7																			0				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(649-651)tcG>tcT		EF-hand calcium binding domain 6							110.0	101.0	104.0					22																	44127685		2202	4299	6501	SO:0001819	synonymous_variant	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:44127685C>A	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.651G>T	22.37:g.44127685C>A						EFCAB6_ENST00000396231.2_Silent_p.S65S|EFCAB6_ENST00000356087.4_Silent_p.S111S|EFCAB6_ENST00000358439.4_Silent_p.S111S	p.S217S	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN			8	904	-		Ovarian(80;0.0247)|all_neural(38;0.025)	217					A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Silent	SNP	ENST00000262726.7	37	c.651G>T	CCDS14049.1																																																																																				0.333	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785		13	579	1	0	1.49906e-05	1.49906e-05	0.00199465	13	579				
HMCN1	83872	broad.mit.edu	37	1	185833685	185833685	+	Silent	SNP	T	T	G			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr1:185833685T>G	ENST00000271588.4	+	3	652	c.423T>G	c.(421-423)gtT>gtG	p.V141V	HMCN1_ENST00000367492.2_Silent_p.V141V	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	141	VWFA.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TCATCTATGTTTTCACTGATG	0.438																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(421-423)gtT>gtG		hemicentin 1							122.0	115.0	117.0					1																	185833685		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185833685T>G	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.423T>G	1.37:g.185833685T>G						HMCN1_ENST00000367492.2_Silent_p.V141V	p.V141V	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			3	652	+			141			VWFA.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.423T>G	CCDS30956.1																																																																																				0.438	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		5	314	0	0	0	1.23904e-05	0	5	314				
TPTE2	93492	broad.mit.edu	37	13	20056686	20056686	+	Splice_Site	SNP	T	T	C	rs201542496		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr13:20056686T>C	ENST00000400230.2	-	4	165	c.121A>G	c.(121-123)Atg>Gtg	p.M41V	TPTE2_ENST00000457266.2_Splice_Site_p.M41V|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000400103.2_Splice_Site_p.M41V|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000382978.1_Splice_Site_p.M41V|TPTE2_ENST00000382977.4_Splice_Site_p.M41V|TPTE2_ENST00000382975.4_Splice_Site_p.M41V			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	41					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		CGTTCTAACATACTTTAGCCA	0.313																																						ENST00000400230.2																			0				NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.e4-1		transmembrane phosphoinositide 3-phosphatase and tensin homolog 2							47.0	46.0	47.0					13																	20056686		2202	4298	6500	SO:0001630	splice_region_variant	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20056686T>C	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.120-1A>G	13.37:g.20056686T>C						TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000382978.1_Splice_Site_p.M41_splice|TPTE2_ENST00000400103.2_Splice_Site_p.M41_splice|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000382977.4_Splice_Site_p.M41_splice|TPTE2_ENST00000382975.4_Splice_Site_p.M41_splice|TPTE2_ENST00000457266.2_Splice_Site_p.M41_splice	p.M41_splice			Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	4	165	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	41					A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Splice_Site	SNP	ENST00000400230.2	37	c.119_splice	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	T	0	-2.805163	0.00075	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548	D;D;D;D;D;D	0.94376	-3.41;-3.33;-3.28;-3.28;-3.41;-3.33	2.06	0.838	0.18902	.	0.589765	0.15086	U	0.281346	D	0.83399	0.5246	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.68424	-0.5412	9	.	.	.	0.2742	3.9369	0.09310	0.0:0.1886:0.0:0.8114	.	41;41	A8MX64;Q6XPS3	.;TPTE2_HUMAN	V	41	ENSP00000372438:M41V;ENSP00000382974:M41V;ENSP00000383089:M41V;ENSP00000372437:M41V;ENSP00000372435:M41V;ENSP00000442218:M41V	.	M	-	1	0	TPTE2	18954686	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-0.105000	0.10907	0.235000	0.21160	0.383000	0.25322	ATG		0.313	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254	Missense_Mutation	7	404	0	0	0	6.40141e-05	0	7	404				
CST11	140880	broad.mit.edu	37	20	23433311	23433311	+	Missense_Mutation	SNP	G	G	C			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr20:23433311G>C	ENST00000377009.3	-	1	171	c.138C>G	c.(136-138)gaC>gaG	p.D46E	CST11_ENST00000377007.3_Missense_Mutation_p.D46E	NM_130794.1	NP_570612.1	Q9H112	CST11_HUMAN	cystatin 11	46					defense response to bacterium (GO:0042742)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			kidney(2)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	14	Colorectal(13;0.0431)|Lung NSC(19;0.235)					ACTGCAAGCTGTCCTTCGCAT	0.473																																						ENST00000377009.3																			0				kidney(2)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	14						c.(136-138)gaC>gaG		cystatin 11							211.0	184.0	193.0					20																	23433311		2203	4300	6503	SO:0001583	missense	140880				defense response to bacterium	cytoplasm|nucleus	cysteine-type endopeptidase inhibitor activity	g.chr20:23433311G>C	AL096677	CCDS13154.1, CCDS13155.1	20p11.21	2012-08-14			ENSG00000125831	ENSG00000125831			15959	protein-coding gene	gene with protein product		609731		CST8L		20565543	Standard	NM_080830		Approved	dJ322G13.6, CTES2	uc002wtf.1	Q9H112	OTTHUMG00000032060	ENST00000377009.3:c.138C>G	20.37:g.23433311G>C	ENSP00000366208:p.Asp46Glu					CST11_ENST00000377007.3_Missense_Mutation_p.D46E	p.D46E	NM_130794.1	NP_570612.1	Q9H112	CST11_HUMAN			1	171	-	Colorectal(13;0.0431)|Lung NSC(19;0.235)		46					Q0VAF2|Q0VAF3|Q8WXU5|Q8WXU6|Q9H113	Missense_Mutation	SNP	ENST00000377009.3	37	c.138C>G	CCDS13155.1	.	.	.	.	.	.	.	.	.	.	G	0.034	-1.315401	0.01331	.	.	ENSG00000125831	ENST00000377009;ENST00000377007	T;T	0.20881	2.04;2.04	3.86	-7.72	0.01250	Proteinase inhibitor I25, cystatin (2);	1.801240	0.02192	N	0.061416	T	0.07188	0.0182	N	0.12182	0.205	0.09310	N	1	B;B	0.14805	0.009;0.011	B;B	0.18871	0.023;0.022	T	0.32903	-0.9889	10	0.02654	T	1	-0.6315	0.5297	0.00626	0.3409:0.2761:0.1774:0.2056	.	46;46	Q9H112-2;Q9H112	.;CST11_HUMAN	E	46	ENSP00000366208:D46E;ENSP00000366206:D46E	ENSP00000366206:D46E	D	-	3	2	CST11	23381311	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.747000	0.04823	-1.825000	0.01207	-0.142000	0.14014	GAC		0.473	CST11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078314.1	NM_130794		10	733	0	0	0	6.40141e-05	0	10	733				
PPP2R5E	5529	broad.mit.edu	37	14	63881941	63881941	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr14:63881941C>A	ENST00000337537.3	-	5	1068	c.466G>T	c.(466-468)Gaa>Taa	p.E156*	PPP2R5E_ENST00000422769.2_Nonsense_Mutation_p.E80*|PPP2R5E_ENST00000553266.1_5'UTR|PPP2R5E_ENST00000555899.1_Nonsense_Mutation_p.E156*	NM_001282179.1|NM_001282180.1|NM_001282181.1|NM_001282182.1|NM_006246.2	NP_001269108.1|NP_001269109.1|NP_001269110.1|NP_001269111.1|NP_006237.1	Q16537	2A5E_HUMAN	protein phosphatase 2, regulatory subunit B', epsilon isoform	156					regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		ATGAAAAATTCATATACAAGC	0.308																																						ENST00000337537.3																			0				endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15						c.(466-468)Gaa>Taa		protein phosphatase 2, regulatory subunit B', epsilon isoform							71.0	74.0	73.0					14																	63881941		2202	4295	6497	SO:0001587	stop_gained	5529				signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr14:63881941C>A	L76703	CCDS9758.1, CCDS61467.1, CCDS61468.1	14q23.2	2010-06-18	2007-01-22		ENSG00000154001	ENSG00000154001		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9313	protein-coding gene	gene with protein product		601647	"""protein phosphatase 2, regulatory subunit B (B56), epsilon isoform"""			7592815	Standard	NM_006246		Approved		uc001xgd.1	Q16537	OTTHUMG00000140341	ENST00000337537.3:c.466G>T	14.37:g.63881941C>A	ENSP00000337641:p.Glu156*					PPP2R5E_ENST00000422769.2_Nonsense_Mutation_p.E80*|PPP2R5E_ENST00000555899.1_Nonsense_Mutation_p.E156*|PPP2R5E_ENST00000553266.1_5'UTR	p.E156*	NM_006246.2	NP_006237.1	Q16537	2A5E_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)	5	1068	-			156					A4FU37|B7ZAW5|B7ZKK8|B7ZKK9|J3KQN6|Q52LW4	Nonsense_Mutation	SNP	ENST00000337537.3	37	c.466G>T	CCDS9758.1	.	.	.	.	.	.	.	.	.	.	C	43	10.299674	0.99378	.	.	ENSG00000154001	ENST00000337537;ENST00000555899;ENST00000422769	.	.	.	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-6.5843	18.2575	0.90024	0.0:1.0:0.0:0.0	.	.	.	.	X	156;156;80	.	ENSP00000337641:E156X	E	-	1	0	PPP2R5E	62951694	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.746000	0.85057	2.664000	0.90586	0.650000	0.86243	GAA		0.308	PPP2R5E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276973.1	NM_006246		17	620	1	0	8.00594e-06	9.7654e-05	0.00120336	17	620				
ADH1A	124	broad.mit.edu	37	4	100203666	100203666	+	Missense_Mutation	SNP	G	G	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr4:100203666G>A	ENST00000209668.2	-	6	778	c.665C>T	c.(664-666)gCg>gTg	p.A222V	RP11-696N14.1_ENST00000506160.1_RNA|RP11-696N14.1_ENST00000500358.2_RNA	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide	222					alcohol metabolic process (GO:0006066)|drug metabolic process (GO:0017144)|ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Ethanol(DB00898)|Fomepizole(DB01213)	GATGTCCACCGCAATGATTCT	0.532																																						ENST00000209668.2																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25						c.(664-666)gCg>gTg		alcohol dehydrogenase 1A (class I), alpha polypeptide	Fomepizole(DB01213)|NADH(DB00157)						286.0	289.0	288.0					4																	100203666		2203	4300	6503	SO:0001583	missense	124				ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding	g.chr4:100203666G>A	M12963	CCDS3648.1	4q23	2009-12-04			ENSG00000187758	ENSG00000187758	1.1.1.1	"""Alcohol dehydrogenases"""	249	protein-coding gene	gene with protein product		103700		ADH1		3006456	Standard	NM_000667		Approved		uc003hur.2	P07327	OTTHUMG00000131026	ENST00000209668.2:c.665C>T	4.37:g.100203666G>A	ENSP00000209668:p.Ala222Val					RP11-696N14.1_ENST00000500358.2_RNA	p.A222V	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	6	778	-			222					A8K3E3|Q17R68	Missense_Mutation	SNP	ENST00000209668.2	37	c.665C>T	CCDS3648.1	.	.	.	.	.	.	.	.	.	.	G	11.27	1.588433	0.28357	.	.	ENSG00000187758	ENST00000209668	T	0.04970	3.52	3.11	-0.519	0.11939	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.245941	0.39146	N	0.001456	T	0.19446	0.0467	M	0.74881	2.28	0.27511	N	0.951696	P;D	0.76494	0.877;0.999	B;P	0.60541	0.175;0.876	T	0.10405	-1.0631	10	0.59425	D	0.04	-7.6741	15.9733	0.80036	0.0:0.6313:0.3687:0.0	.	13;222	B4E1R1;P07327	.;ADH1A_HUMAN	V	222	ENSP00000209668:A222V	ENSP00000209668:A222V	A	-	2	0	ADH1A	100422689	0.001000	0.12720	0.529000	0.27951	0.148000	0.21650	-0.192000	0.09587	0.061000	0.16311	0.460000	0.39030	GCG		0.532	ADH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253669.1	NM_000667		32	1421	0	0	0	4.16121e-05	0	32	1421				
ZC3H15	55854	broad.mit.edu	37	2	187370558	187370558	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr2:187370558G>T	ENST00000337859.6	+	8	1183	c.956G>T	c.(955-957)gGt>gTt	p.G319V	ZC3H15_ENST00000544130.1_Missense_Mutation_p.G114V	NM_018471.2	NP_060941.2	Q8WU90	ZC3HF_HUMAN	zinc finger CCCH-type containing 15	319					cytokine-mediated signaling pathway (GO:0019221)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)			CAGGGAACAGGTGGTGATGAG	0.428																																						ENST00000337859.6																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	15						c.(955-957)gGt>gTt		zinc finger CCCH-type containing 15							105.0	99.0	101.0					2																	187370558		2021	4174	6195	SO:0001583	missense	55854					cytoplasm|nucleolus|plasma membrane	nucleic acid binding|zinc ion binding	g.chr2:187370558G>T		CCDS42791.1	2q32.1	2012-07-05			ENSG00000065548	ENSG00000065548		"""Zinc fingers, CCCH-type domain containing"""	29528	protein-coding gene	gene with protein product	"""likely ortholog of mouse immediate early response, erythropoietin 4"""					10880228	Standard	NM_018471		Approved	LEREPO4	uc002upo.3	Q8WU90	OTTHUMG00000154251	ENST00000337859.6:c.956G>T	2.37:g.187370558G>T	ENSP00000338788:p.Gly319Val					ZC3H15_ENST00000544130.1_Missense_Mutation_p.G114V	p.G319V	NM_018471.2	NP_060941.2	Q8WU90	ZC3HF_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)		8	1183	+			319					B4DMW2|D3DPG7|Q5QTQ4|Q8WZ06|Q9NUZ3|Q9NZ37|Q9P079	Missense_Mutation	SNP	ENST00000337859.6	37	c.956G>T	CCDS42791.1	.	.	.	.	.	.	.	.	.	.	G	12.75	2.032400	0.35893	.	.	ENSG00000065548	ENST00000337859;ENST00000544130;ENST00000536434	T	0.29917	1.55	5.87	5.87	0.94306	.	0.478557	0.25823	N	0.028075	T	0.21022	0.0506	N	0.22421	0.69	0.50632	D	0.999884	B	0.33583	0.418	B	0.32393	0.145	T	0.04635	-1.0937	10	0.22706	T	0.39	-16.981	13.7487	0.62894	0.0701:0.0:0.9299:0.0	.	319	Q8WU90	ZC3HF_HUMAN	V	319;114;319	ENSP00000338788:G319V	ENSP00000338788:G319V	G	+	2	0	ZC3H15	187078803	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.103000	0.64578	2.941000	0.99782	0.655000	0.94253	GGT		0.428	ZC3H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334547.2	NM_018471		14	181	1	0	3.27435e-08	1.49906e-05	6.9939e-06	14	181				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr17:43587569G>C	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		aactccgtctgaaaagaaaag	0.443																																						ENST00000253803.2																			0																																																			0							g.chr17:43587569G>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587569G>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.443	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		12	260	0	0	0	0.00010058	0	12	260				
BIRC6	57448	broad.mit.edu	37	2	32613902	32613902	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr2:32613902C>A	ENST00000421745.2	+	4	864	c.730C>A	c.(730-732)Caa>Aaa	p.Q244K		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	244					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GAAAATAAATCAAAATGTTGC	0.463																																					Pancreas(94;175 1509 16028 18060 45422)	ENST00000421745.2																			0				NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172						c.(730-732)Caa>Aaa		baculoviral IAP repeat containing 6							151.0	128.0	136.0					2																	32613902		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32613902C>A	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.730C>A	2.37:g.32613902C>A	ENSP00000393596:p.Gln244Lys						p.Q244K	NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN			4	864	+	Acute lymphoblastic leukemia(172;0.155)		244					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.730C>A	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	C	20.3	3.970684	0.74246	.	.	ENSG00000115760	ENST00000421745	T	0.74002	-0.8	5.75	5.75	0.90469	.	0.066156	0.64402	D	0.000009	T	0.67163	0.2864	L	0.34521	1.04	0.58432	D	0.999999	P	0.48764	0.915	B	0.40940	0.344	T	0.65903	-0.6055	10	0.29301	T	0.29	.	19.9498	0.97195	0.0:1.0:0.0:0.0	.	244	Q9NR09	BIRC6_HUMAN	K	244	ENSP00000393596:Q244K	ENSP00000393596:Q244K	Q	+	1	0	BIRC6	32467406	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.770000	0.85390	2.715000	0.92844	0.650000	0.86243	CAA		0.463	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		9	255	1	0	6.40141e-05	6.40141e-05	0.00606515	9	255				
AVL9	23080	broad.mit.edu	37	7	32615681	32615681	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr7:32615681C>A	ENST00000318709.4	+	13	1906	c.1685C>A	c.(1684-1686)cCa>cAa	p.P562Q	AVL9_ENST00000404479.1_Intron|AVL9_ENST00000409301.1_Missense_Mutation_p.P562Q	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	562					cell migration (GO:0016477)	integral component of membrane (GO:0016021)|recycling endosome (GO:0055037)				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						GAAATAAATCCAAAGTAAGCG	0.378																																						ENST00000318709.4																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(1684-1686)cCa>cAa		AVL9 homolog (S. cerevisiase)							128.0	124.0	125.0					7																	32615681		2203	4300	6503	SO:0001583	missense	23080					integral to membrane		g.chr7:32615681C>A	D87682	CCDS34613.1	7p14.3	2013-05-01	2008-10-03	2008-10-03	ENSG00000105778	ENSG00000105778			28994	protein-coding gene	gene with protein product		612927	"""KIAA0241"""	KIAA0241		17229886, 22595670	Standard	XM_005249668		Approved		uc003tcv.1	Q8NBF6	OTTHUMG00000152929	ENST00000318709.4:c.1685C>A	7.37:g.32615681C>A	ENSP00000315568:p.Pro562Gln					AVL9_ENST00000404479.1_Intron|AVL9_ENST00000409301.1_Missense_Mutation_p.P562Q	p.P562Q	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN			13	1906	+			562					Q92573	Missense_Mutation	SNP	ENST00000318709.4	37	c.1685C>A	CCDS34613.1	.	.	.	.	.	.	.	.	.	.	C	33	5.252531	0.95336	.	.	ENSG00000105778	ENST00000318709;ENST00000409301	T;T	0.54279	0.58;0.6	5.73	5.73	0.89815	.	0.055360	0.64402	D	0.000001	T	0.64702	0.2622	M	0.73217	2.22	0.80722	D	1	D	0.57899	0.981	P	0.49752	0.621	T	0.68697	-0.5340	10	0.72032	D	0.01	-21.0103	19.904	0.97001	0.0:1.0:0.0:0.0	.	562	Q8NBF6	AVL9_HUMAN	Q	562	ENSP00000315568:P562Q;ENSP00000387011:P562Q	ENSP00000315568:P562Q	P	+	2	0	AVL9	32582206	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	7.521000	0.81832	2.689000	0.91719	0.655000	0.94253	CCA		0.378	AVL9-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328643.1	NM_015060		7	609	1	0	5.18039e-06	5.18039e-06	0.000838376	7	609				
ATP10A	57194	broad.mit.edu	37	15	25928570	25928570	+	Missense_Mutation	SNP	C	C	G			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr15:25928570C>G	ENST00000356865.6	-	17	3466	c.3355G>C	c.(3355-3357)Gac>Cac	p.D1119H		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1119					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TACCACTGGTCAATCATGGTA	0.502																																						ENST00000356865.6																			0				NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103						c.(3355-3357)Gac>Cac		ATPase, class V, type 10A							83.0	81.0	81.0					15																	25928570		2203	4300	6503	SO:0001583	missense	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25928570C>G	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.3355G>C	15.37:g.25928570C>G	ENSP00000349325:p.Asp1119His						p.D1119H	NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	17	3466	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	1119					Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	c.3355G>C	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.693762	0.88735	.	.	ENSG00000206190	ENST00000356865	T	0.42131	0.98	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.74861	0.3772	H	0.94658	3.565	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.83740	0.0203	10	0.87932	D	0	-36.8332	17.8828	0.88845	0.0:1.0:0.0:0.0	.	1119	O60312	AT10A_HUMAN	H	1119	ENSP00000349325:D1119H	ENSP00000349325:D1119H	D	-	1	0	ATP10A	23479663	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	7.511000	0.81718	2.205000	0.71048	0.655000	0.94253	GAC		0.502	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		5	202	0	0	0	1.23904e-05	0	5	202				
CRIM1	51232	broad.mit.edu	37	2	36669819	36669819	+	Silent	SNP	G	G	T	rs200502210		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr2:36669819G>T	ENST00000280527.2	+	4	1177	c.810G>T	c.(808-810)ccG>ccT	p.P270P		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	270					insulin-like growth factor receptor signaling pathway (GO:0048009)|nervous system development (GO:0007399)|regulation of cell growth (GO:0001558)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	insulin-like growth factor-activated receptor activity (GO:0005010)|PDZ domain binding (GO:0030165)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				CGTGTCCCCCGGACAGCTATG	0.478																																						ENST00000280527.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45						c.(808-810)ccG>ccT		cysteine rich transmembrane BMP regulator 1 (chordin-like)							169.0	149.0	156.0					2																	36669819		2203	4300	6503	SO:0001819	synonymous_variant	51232				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity	g.chr2:36669819G>T	AF168681	CCDS1783.1	2p21	2010-06-29	2005-07-25		ENSG00000150938	ENSG00000150938			2359	protein-coding gene	gene with protein product		606189	"""cysteine-rich motor neuron 1"""	S52		10642437	Standard	NM_016441		Approved		uc002rpd.3	Q9NZV1	OTTHUMG00000099419	ENST00000280527.2:c.810G>T	2.37:g.36669819G>T							p.P270P	NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN			4	1177	+		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)	270					Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	Silent	SNP	ENST00000280527.2	37	c.810G>T	CCDS1783.1																																																																																				0.478	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216878.2	NM_016441		9	796	1	0	1.12685e-05	1.12685e-05	0.00155022	9	796				
DPY19L2P1	554236	broad.mit.edu	37	7	35131548	35131548	+	RNA	SNP	G	G	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr7:35131548G>A	ENST00000436258.1	-	0	1821							Q6NXN4	D19P1_HUMAN	DPY19L2 pseudogene 1							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										TGGCACCTGCGAAGACAGCAT	0.388																																						ENST00000436258.1																			0																																																			0							g.chr7:35131548G>A	BC066987		7p14.2	2014-03-18	2013-09-12		ENSG00000189212	ENSG00000189212			22305	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 1 (C. elegans)"""				Standard	NR_002833		Approved		uc031swy.1	Q6NXN4	OTTHUMG00000155026		7.37:g.35131548G>A														0	1821	-								B4E2E3	RNA	SNP	ENST00000436258.1	37																																																																																						0.388	DPY19L2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000338113.1			9	362	0	0	0	5.01169e-05	0	9	362				
KRTAP5-10	387273	broad.mit.edu	37	11	71276891	71276891	+	Silent	SNP	C	C	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr11:71276891C>T	ENST00000398531.1	+	1	283	c.258C>T	c.(256-258)tcC>tcT	p.S86S	KRTAP5-10_ENST00000376536.4_Intron	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	86	7 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						GCTGTGGTTCCTGTGGGGGCT	0.687																																						ENST00000398531.1																			0				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						c.(256-258)tcC>tcT		keratin associated protein 5-10							42.0	61.0	55.0					11																	71276891		2095	4231	6326	SO:0001819	synonymous_variant	387273					keratin filament		g.chr11:71276891C>T	AB126079	CCDS41684.1	11q13.4	2008-02-05			ENSG00000204572	ENSG00000204572		"""Keratin associated proteins"""	23605	protein-coding gene	gene with protein product						15144888	Standard	NM_001012710		Approved	KRTAP5.10	uc001oqt.1	Q6L8G5	OTTHUMG00000057585	ENST00000398531.1:c.258C>T	11.37:g.71276891C>T						KRTAP5-10_ENST00000376536.4_Intron	p.S86S	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN			1	283	+			86			7 X 4 AA repeats of C-C-X-P.		B9EHA4	Silent	SNP	ENST00000398531.1	37	c.258C>T	CCDS41684.1																																																																																				0.687	KRTAP5-10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000127968.2			7	635	0	0	0	5.18039e-06	0	7	635				
VPS13C	54832	broad.mit.edu	37	15	62173113	62173113	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr15:62173113C>A	ENST00000261517.5	-	72	9890	c.9817G>T	c.(9817-9819)Gat>Tat	p.D3273Y	VPS13C_ENST00000558919.1_5'UTR|VPS13C_ENST00000249837.3_Missense_Mutation_p.D3230Y|VPS13C_ENST00000395896.4_Missense_Mutation_p.D3273Y|VPS13C_ENST00000395898.3_Missense_Mutation_p.D3230Y	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						AACCCTTGATCAATTTTTAAG	0.318																																						ENST00000261517.5																			0				NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(9817-9819)Gat>Tat		vacuolar protein sorting 13 homolog C (S. cerevisiae)							55.0	59.0	58.0					15																	62173113		2202	4298	6500	SO:0001583	missense	54832				protein localization			g.chr15:62173113C>A	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.9817G>T	15.37:g.62173113C>A	ENSP00000261517:p.Asp3273Tyr					VPS13C_ENST00000395896.4_Missense_Mutation_p.D3273Y|VPS13C_ENST00000395898.3_Missense_Mutation_p.D3230Y|VPS13C_ENST00000558919.1_5'UTR|VPS13C_ENST00000249837.3_Missense_Mutation_p.D3230Y	p.D3273Y	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN			72	9890	-			3273						Missense_Mutation	SNP	ENST00000261517.5	37	c.9817G>T	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.286607	0.80803	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	D;D;D	0.84370	-1.84;-1.84;-1.84	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.93504	0.7927	M	0.86097	2.795	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.93947	0.7228	10	0.87932	D	0	.	19.7126	0.96102	0.0:1.0:0.0:0.0	.	3230;3273;3230;3273	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	Y	3230;3273;3273;3273	ENSP00000249837:D3230Y;ENSP00000261517:D3273Y;ENSP00000379233:D3273Y	ENSP00000249837:D3230Y	D	-	1	0	VPS13C	59960405	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.454000	0.80714	2.664000	0.90586	0.650000	0.86243	GAT		0.318	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		11	523	1	0	2.31682e-05	2.31682e-05	0.00284922	11	523				
CADM1	23705	broad.mit.edu	37	11	115085351	115085351	+	Nonsense_Mutation	SNP	G	G	T	rs376941564		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr11:115085351G>T	ENST00000452722.3	-	7	991	c.971C>A	c.(970-972)tCg>tAg	p.S324*	CADM1_ENST00000542447.2_Nonsense_Mutation_p.S324*|CADM1_ENST00000536727.1_Nonsense_Mutation_p.S324*|CADM1_ENST00000331581.6_Nonsense_Mutation_p.S324*|CADM1_ENST00000537058.1_Nonsense_Mutation_p.S324*|CADM1_ENST00000537140.1_5'UTR	NM_014333.3	NP_055148.3			cell adhesion molecule 1											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)		CATATAATCCGAGTGAGCTTT	0.423																																						ENST00000542447.2																			0				cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32						c.(970-972)tCg>tAg		cell adhesion molecule 1							222.0	199.0	207.0					11																	115085351		2201	4296	6497	SO:0001587	stop_gained	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.chr11:115085351G>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.971C>A	11.37:g.115085351G>T	ENSP00000395359:p.Ser324*					CADM1_ENST00000536727.1_Nonsense_Mutation_p.S324*|CADM1_ENST00000331581.6_Nonsense_Mutation_p.S324*|CADM1_ENST00000452722.2_Nonsense_Mutation_p.S324*|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000537058.1_Nonsense_Mutation_p.S324*	p.S324*	NM_001098517.1	NP_001091987.1	Q9BY67	CADM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)	7	1099	-	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)	324			Ig-like C2-type 2.			Nonsense_Mutation	SNP	ENST00000452722.3	37	c.971C>A	CCDS8373.1	.	.	.	.	.	.	.	.	.	.	G	36	5.707897	0.96821	.	.	ENSG00000182985	ENST00000542447;ENST00000452722;ENST00000537058;ENST00000536727;ENST00000404468;ENST00000331581	.	.	.	5.62	5.62	0.85841	.	0.132015	0.49916	D	0.000133	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	19.6764	0.95936	0.0:0.0:1.0:0.0	.	.	.	.	X	324;324;324;324;283;324	.	ENSP00000329797:S324X	S	-	2	0	CADM1	114590561	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.968000	0.56809	2.660000	0.90430	0.655000	0.94253	TCG		0.423	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	NM_014333		9	830	1	0	3.86212e-05	3.86212e-05	0.00414285	9	830				
TUBA3E	112714	broad.mit.edu	37	2	130949696	130949696	+	Missense_Mutation	SNP	C	C	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr2:130949696C>T	ENST00000312988.7	-	5	1161	c.1061G>A	c.(1060-1062)gGc>gAc	p.G354D		NM_207312.2	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	354					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					GTAGTTAATGCCCACCTGCCA	0.572																																						ENST00000312988.7																			0				endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28						c.(1060-1062)gGc>gAc		tubulin, alpha 3e							36.0	38.0	37.0					2																	130949696		2202	4300	6502	SO:0001583	missense	112714				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr2:130949696C>T	BC057811	CCDS2158.1	2q21.1	2007-03-16			ENSG00000152086	ENSG00000152086		"""Tubulins"""	20765	protein-coding gene	gene with protein product							Standard	NM_207312		Approved		uc002tqv.3	Q6PEY2	OTTHUMG00000131626	ENST00000312988.7:c.1061G>A	2.37:g.130949696C>T	ENSP00000318197:p.Gly354Asp						p.G354D	NM_207312.2	NP_997195.1	Q6PEY2	TBA3E_HUMAN			5	1161	-	Colorectal(110;0.1)		354						Missense_Mutation	SNP	ENST00000312988.7	37	c.1061G>A	CCDS2158.1	.	.	.	.	.	.	.	.	.	.	c	14.23	2.473840	0.43942	.	.	ENSG00000152086	ENST00000312988	D	0.84873	-1.91	2.96	2.96	0.34315	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.000000	0.49916	U	0.000137	D	0.94212	0.8142	H	0.99535	4.615	0.53688	D	0.999973	P	0.39216	0.664	P	0.51550	0.673	D	0.95347	0.8443	10	0.87932	D	0	.	11.6912	0.51516	0.0:1.0:0.0:0.0	.	354	Q6PEY2	TBA3E_HUMAN	D	354	ENSP00000318197:G354D	ENSP00000318197:G354D	G	-	2	0	TUBA3E	130666166	1.000000	0.71417	1.000000	0.80357	0.746000	0.42486	5.399000	0.66314	1.668000	0.50843	0.455000	0.32223	GGC		0.572	TUBA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254519.1	NM_207312		5	415	0	0	0	3.59834e-05	0	5	415				
IKBIP	121457	broad.mit.edu	37	12	99020248	99020248	+	Intron	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr12:99020248G>T	ENST00000342502.2	-	2	709				IKBIP_ENST00000299157.4_Silent_p.L198L|IKBIP_ENST00000420861.1_Intron|IKBIP_ENST00000393042.3_Intron	NM_201612.2	NP_963906.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein						response to X-ray (GO:0010165)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						GCCGTTCAGTGAGCAATTTTA	0.348																																						ENST00000299157.4																			0				NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						c.(592-594)ctC>ctA		IKBKB interacting protein							149.0	143.0	145.0					12																	99020248		2203	4300	6503	SO:0001627	intron_variant	121457				induction of apoptosis|response to X-ray	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr12:99020248G>T	AJ539425	CCDS9067.1, CCDS9068.1, CCDS41822.1	12q23.1	2010-02-17			ENSG00000166130	ENSG00000166130			26430	protein-coding gene	gene with protein product	"""I kappa B kinase interacting protein"""	609861				15389287	Standard	NM_153687		Approved	FLJ31051, IKIP	uc001tfx.4	Q70UQ0	OTTHUMG00000170213	ENST00000342502.2:c.297+7825C>A	12.37:g.99020248G>T						IKBIP_ENST00000420861.1_Intron|IKBIP_ENST00000393042.3_Intron|IKBIP_ENST00000342502.2_Intron	p.L198L	NM_153687.3	NP_710154.1	Q70UQ0	IKIP_HUMAN			3	967	-			199					Q6ZWH4|Q70UP9|Q86V91|Q96ND2	Silent	SNP	ENST00000342502.2	37	c.594C>A	CCDS9067.1																																																																																				0.348	IKBIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000408003.2	NM_153687		11	597	1	0	9.31168e-06	9.31168e-06	0.00133376	11	597				
FREM2	341640	broad.mit.edu	37	13	39451286	39451286	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr13:39451286G>T	ENST00000280481.7	+	21	8793	c.8577G>T	c.(8575-8577)ttG>ttT	p.L2859F		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2859					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AGTTTAGCTTGAACACCCAAA	0.438																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(8575-8577)ttG>ttT		FRAS1 related extracellular matrix protein 2							279.0	243.0	255.0					13																	39451286		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39451286G>T	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.8577G>T	13.37:g.39451286G>T	ENSP00000280481:p.Leu2859Phe						p.L2859F	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	21	8793	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	2859					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.8577G>T	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	18.80	3.700345	0.68501	.	.	ENSG00000150893	ENST00000280481	T	0.66995	-0.24	5.92	3.07	0.35406	.	0.000000	0.64402	D	0.000003	D	0.82999	0.5159	M	0.89095	3.005	0.54753	D	0.999988	D	0.89917	1.0	D	0.91635	0.999	D	0.85672	0.1295	10	0.87932	D	0	.	12.8854	0.58040	0.0:0.454:0.428:0.1181	.	2859	Q5SZK8	FREM2_HUMAN	F	2859	ENSP00000280481:L2859F	ENSP00000280481:L2859F	L	+	3	2	FREM2	38349286	0.987000	0.35691	1.000000	0.80357	0.972000	0.66771	0.140000	0.16056	0.821000	0.34540	0.467000	0.42956	TTG		0.438	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		14	1074	1	0	1.3612e-06	2.31682e-05	0.00025694	14	1074				
KIF5B	3799	broad.mit.edu	37	10	32323665	32323665	+	Missense_Mutation	SNP	C	C	A	rs141896420		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr10:32323665C>A	ENST00000302418.4	-	11	1521	c.1064G>T	c.(1063-1065)cGg>cTg	p.R355L		NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	355					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|cytoplasm organization (GO:0007028)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane potential (GO:0042391)|stress granule disassembly (GO:0035617)|vesicle transport along microtubule (GO:0047496)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				AATAGTGTTCCGCAGGATCTT	0.338			T	"""RET, ALK"""	NSCLC																																	ENST00000302418.4				Dom	yes		10	10p11.22	3799	T	kinesin family member 5B			E	"""RET, ALK"""		NSCLC	KIF5B/ALK(8)|KIF5B/RET(79)	0				NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35						c.(1063-1065)cGg>cTg		kinesin family member 5B							66.0	63.0	64.0					10																	32323665		2203	4299	6502	SO:0001583	missense	3799				stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity	g.chr10:32323665C>A	X65873	CCDS7171.1	10p11.22	2007-02-13			ENSG00000170759	ENSG00000170759		"""Kinesins"""	6324	protein-coding gene	gene with protein product		602809		KNS1		1607388	Standard	NM_004521		Approved	KNS	uc001iwe.4	P33176	OTTHUMG00000017913	ENST00000302418.4:c.1064G>T	10.37:g.32323665C>A	ENSP00000307078:p.Arg355Leu						p.R355L	NM_004521.2	NP_004512.1	P33176	KINH_HUMAN			11	1521	-		Prostate(175;0.0137)	355					A0AVB2|Q5VZ85	Missense_Mutation	SNP	ENST00000302418.4	37	c.1064G>T	CCDS7171.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.853165	0.51270	.	.	ENSG00000170759	ENST00000302418	D	0.87809	-2.3	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.83922	0.5359	L	0.44542	1.39	0.45403	D	0.998389	B	0.23854	0.092	B	0.23852	0.049	T	0.79327	-0.1849	10	0.28530	T	0.3	.	18.8538	0.92242	0.0:1.0:0.0:0.0	.	355	P33176	KINH_HUMAN	L	355	ENSP00000307078:R355L	ENSP00000307078:R355L	R	-	2	0	KIF5B	32363671	0.978000	0.34361	1.000000	0.80357	0.957000	0.61999	2.608000	0.46308	2.435000	0.82474	0.563000	0.77884	CGG		0.338	KIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047467.1	NM_004521		7	523	1	0	8.12818e-05	8.12818e-05	0.00746873	7	523				
VCPIP1	80124	broad.mit.edu	37	8	67577681	67577681	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr8:67577681C>A	ENST00000310421.4	-	1	1771	c.1513G>T	c.(1513-1515)Gac>Tac	p.D505Y	C8orf44_ENST00000521889.1_5'Flank|C8orf44-SGK3_ENST00000519289.1_5'Flank|C8orf44_ENST00000519561.1_5'Flank	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	505					endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			TAATTTTTGTCAGTCCTCAGC	0.433																																					NSCLC(179;265 2915 6144 43644)	ENST00000310421.4																			0				breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(1513-1515)Gac>Tac		valosin containing protein (p97)/p47 complex interacting protein 1							164.0	172.0	169.0					8																	67577681		2203	4300	6503	SO:0001583	missense	80124				protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity	g.chr8:67577681C>A	AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"""OTU domain containing"""	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.1513G>T	8.37:g.67577681C>A	ENSP00000309031:p.Asp505Tyr						p.D505Y	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)		1	1771	-		Lung NSC(129;0.142)|all_lung(136;0.227)	505					Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Missense_Mutation	SNP	ENST00000310421.4	37	c.1513G>T	CCDS6192.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.058413	0.55325	.	.	ENSG00000175073	ENST00000310421	T	0.34275	1.37	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.56645	0.1999	L	0.51422	1.61	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.57665	-0.7772	10	0.62326	D	0.03	-10.4364	18.9562	0.92659	0.0:1.0:0.0:0.0	.	505	Q96JH7	VCIP1_HUMAN	Y	505	ENSP00000309031:D505Y	ENSP00000309031:D505Y	D	-	1	0	VCPIP1	67740235	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.459000	0.83118	0.655000	0.94253	GAC		0.433	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1			15	976	1	0	3.45872e-05	3.45872e-05	0.00404903	15	976				
POP1	10940	broad.mit.edu	37	8	99142441	99142441	+	Missense_Mutation	SNP	G	G	A	rs148502433		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr8:99142441G>A	ENST00000401707.2	+	5	803	c.722G>A	c.(721-723)cGg>cAg	p.R241Q	POP1_ENST00000349693.3_Missense_Mutation_p.R241Q	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	241					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA 5'-leader removal (GO:0001682)|tRNA catabolic process (GO:0016078)	extracellular space (GO:0005615)|nucleolar ribonuclease P complex (GO:0005655)|ribonuclease MRP complex (GO:0000172)	poly(A) RNA binding (GO:0044822)|ribonuclease MRP activity (GO:0000171)|ribonuclease P activity (GO:0004526)			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			ATGACGAACCGGTGCCTCCTG	0.498													G|||	1	0.000199681	0.0	0.0	5008	,	,		15993	0.0		0.001	False		,,,				2504	0.0					ENST00000401707.2																			0				autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(721-723)cGg>cAg		processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)		G	GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	75.0	74.0	74.0		722,722,722	-1.7	0.0	8	dbSNP_134	74	2,8596		0,2,4297	yes	missense,missense,missense	POP1	NM_001145860.1,NM_001145861.1,NM_015029.2	43,43,43	0,2,6500	AA,AG,GG		0.0233,0.0,0.0154	benign,benign,benign	241/1025,241/1025,241/1025	99142441	2,13002	2203	4299	6502	SO:0001583	missense	10940				tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity	g.chr8:99142441G>A	D31765	CCDS6277.1	8q22.2	2012-05-21			ENSG00000104356	ENSG00000104356			30129	protein-coding gene	gene with protein product	"""processing of precursors 1"""	602486				10199568, 8918471	Standard	NM_015029		Approved		uc011lgv.2	Q99575	OTTHUMG00000164635	ENST00000401707.2:c.722G>A	8.37:g.99142441G>A	ENSP00000385787:p.Arg241Gln					POP1_ENST00000349693.3_Missense_Mutation_p.R241Q	p.R241Q	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.145)		5	803	+	Breast(36;1.78e-06)		241					A8K5W9|Q15037	Missense_Mutation	SNP	ENST00000401707.2	37	c.722G>A	CCDS6277.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	10.70	1.424994	0.25639	0.0	2.33E-4	ENSG00000104356	ENST00000401707;ENST00000349693	T;T	0.41758	0.99;0.99	5.91	-1.73	0.08081	Ribonuclease P/MRP, subunit POP1 (1);	0.441265	0.23766	N	0.044766	T	0.20170	0.0485	L	0.28400	0.85	0.09310	N	1	B	0.22851	0.076	B	0.22753	0.041	T	0.06917	-1.0800	9	.	.	.	-14.9496	0.3734	0.00383	0.3481:0.131:0.2675:0.2534	.	241	Q99575	POP1_HUMAN	Q	241	ENSP00000385787:R241Q;ENSP00000339529:R241Q	.	R	+	2	0	POP1	99211617	0.044000	0.20184	0.001000	0.08648	0.221000	0.24807	1.582000	0.36568	-0.185000	0.10550	-0.176000	0.13171	CGG		0.498	POP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379470.1	NM_015029		7	540	0	0	0	1.12685e-05	0	7	540				
CATSPERD	257062	broad.mit.edu	37	19	5748182	5748182	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr19:5748182G>T	ENST00000381624.3	+	10	881	c.820G>T	c.(820-822)Gac>Tac	p.D274Y	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	274					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)											TCAGCTCGTCGACACCGTCCG	0.547																																						ENST00000381624.3																			0											c.(820-822)Gac>Tac		catsper channel auxiliary subunit delta							90.0	96.0	94.0					19																	5748182		1995	4159	6154	SO:0001583	missense	257062					integral to membrane		g.chr19:5748182G>T	BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"""transmembrane protein 146"""	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.820G>T	19.37:g.5748182G>T	ENSP00000371037:p.Asp274Tyr					CATSPERD_ENST00000381614.2_5'UTR	p.D274Y	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN			10	881	+			274					Q6ZRP1	Missense_Mutation	SNP	ENST00000381624.3	37	c.820G>T	CCDS12149.2	.	.	.	.	.	.	.	.	.	.	G	9.292	1.050834	0.19827	.	.	ENSG00000174898	ENST00000394548;ENST00000381624	T	0.23552	1.9	3.0	-6.0	0.02206	.	2.349280	0.02331	N	0.073899	T	0.14270	0.0345	L	0.27053	0.805	0.09310	N	0.999998	B	0.26258	0.145	B	0.23716	0.048	T	0.08764	-1.0706	10	0.49607	T	0.09	-2.0981	0.5168	0.00605	0.3854:0.13:0.2226:0.262	.	274	Q86XM0	TM146_HUMAN	Y	200;274	ENSP00000371037:D274Y	ENSP00000371037:D274Y	D	+	1	0	TMEM146	5699182	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.579000	0.05834	-1.819000	0.01216	-0.181000	0.13052	GAC		0.547	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2	NM_152784		10	381	1	0	5.50884e-06	0.00010058	0.000838376	10	381				
RASSF9	9182	broad.mit.edu	37	12	86198780	86198780	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr12:86198780C>A	ENST00000361228.3	-	2	1376	c.1008G>T	c.(1006-1008)ttG>ttT	p.L336F		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	336					endosomal transport (GO:0016197)|protein targeting (GO:0006605)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|trans-Golgi network transport vesicle membrane (GO:0012510)	transporter activity (GO:0005215)			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGATGCCACTCAAATGAGAGT	0.378																																						ENST00000361228.3																			0				endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1006-1008)ttG>ttT		Ras association (RalGDS/AF-6) domain family (N-terminal) member 9							177.0	180.0	179.0					12																	86198780		1850	4088	5938	SO:0001583	missense	9182				endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity	g.chr12:86198780C>A		CCDS44950.1	12q21.31	2008-02-22	2008-02-22	2008-02-22		ENSG00000198774			15739	protein-coding gene	gene with protein product		610383	"""peptidylglycine alpha-amidating monooxygenase COOH-terminal interactor"""	PAMCI		9837933, 18272789	Standard	NM_005447		Approved	P-CIP1	uc001taf.1	O75901	OTTHUMG00000169831	ENST00000361228.3:c.1008G>T	12.37:g.86198780C>A	ENSP00000354884:p.Leu336Phe						p.L336F	NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN			2	1376	-			336					B3KMQ4|Q8N5U8	Missense_Mutation	SNP	ENST00000361228.3	37	c.1008G>T	CCDS44950.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.511967	0.27036	.	.	ENSG00000198774	ENST00000361228	T	0.55413	0.52	4.9	3.99	0.46301	.	0.372072	0.25205	U	0.032355	T	0.31104	0.0786	N	0.12746	0.255	0.35678	D	0.813822	P	0.35793	0.521	B	0.33121	0.158	T	0.45381	-0.9265	10	0.52906	T	0.07	-14.4116	9.0819	0.36556	0.147:0.774:0.0:0.0789	.	336	O75901	RASF9_HUMAN	F	336	ENSP00000354884:L336F	ENSP00000354884:L336F	L	-	3	2	RASSF9	84722911	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	0.819000	0.27308	2.419000	0.82065	0.650000	0.86243	TTG		0.378	RASSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406109.1			11	993	1	0	0.00010058	0.00010058	0.00856336	11	993				
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	82								p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.L82S(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(244-246)tTg>tCg																																						SO:0001583	missense	0							g.chr20:29628243T>C			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.245T>C	20.37:g.29628243T>C	ENSP00000278882:p.Leu82Ser					FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S	p.L82S							6	625	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.245T>C		.	.	.	.	.	.	.	.	.	.	t	12.14	1.848999	0.32699	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.147685	0.45361	D	0.000380	T	0.38665	0.1049	.	.	.	0.46185	D	0.99891	B;B	0.27656	0.03;0.184	B;B	0.35813	0.11;0.211	T	0.24548	-1.0157	9	0.38643	T	0.18	.	8.0833	0.30758	0.0:0.0:0.0:1.0	.	87;82	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	S	82;87;82	ENSP00000408863:L87S	ENSP00000278882:L82S	L	+	2	0	FRG1B	28241904	1.000000	0.71417	0.998000	0.56505	0.541000	0.35023	6.955000	0.76007	1.208000	0.43306	0.347000	0.21830	TTG		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		10	862	0	0	0	1.64113e-05	0	10	862				
ZFP82	284406	broad.mit.edu	37	19	36883858	36883858	+	Missense_Mutation	SNP	G	G	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr19:36883858G>A	ENST00000392161.3	-	5	1626	c.1384C>T	c.(1384-1386)Cgc>Tgc	p.R462C	ZFP82_ENST00000392171.1_Missense_Mutation_p.R462C	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	462					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)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AGTTTTTGGCGCAATCTAAAG	0.398																																						ENST00000392161.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1384-1386)Cgc>Tgc		ZFP82 zinc finger protein							104.0	100.0	101.0					19																	36883858		2203	4300	6503	SO:0001583	missense	284406				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36883858G>A	AL834267	CCDS12493.1	19q13.13	2013-01-08	2012-11-27	2008-07-01		ENSG00000181007		"""Zinc fingers, C2H2-type"", ""-"""	28682	protein-coding gene	gene with protein product			"""zinc finger protein 545"", ""zinc finger protein 82 homolog (mouse)"", ""zinc finger protein 82"""	ZNF545		11853319	Standard	NM_133466		Approved	MGC45380, KIAA1948	uc002ody.1	Q8N141		ENST00000392161.3:c.1384C>T	19.37:g.36883858G>A	ENSP00000431265:p.Arg462Cys					ZFP82_ENST00000392171.1_Missense_Mutation_p.R462C	p.R462C	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN			5	1626	-			462					Q8NC63|Q8TF53	Missense_Mutation	SNP	ENST00000392161.3	37	c.1384C>T	CCDS12493.1	.	.	.	.	.	.	.	.	.	.	G	11.02	1.517462	0.27123	.	.	ENSG00000181007	ENST00000392161;ENST00000392171	T;T	0.08634	3.07;3.07	4.2	3.12	0.35913	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.38326	N	0.001727	T	0.11623	0.0283	M	0.68952	2.095	0.09310	N	1	D	0.63880	0.993	P	0.47626	0.552	T	0.13872	-1.0493	10	0.42905	T	0.14	.	5.1118	0.14813	0.1064:0.0:0.6852:0.2084	.	462	Q8N141	ZFP82_HUMAN	C	462	ENSP00000431265:R462C;ENSP00000446080:R462C	ENSP00000431265:R462C	R	-	1	0	ZFP82	41575698	0.000000	0.05858	1.000000	0.80357	0.950000	0.60333	-0.160000	0.10041	1.081000	0.41110	0.591000	0.81541	CGC		0.398	ZFP82-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109552.2	NM_133466		6	683	0	0	0	8.12818e-05	0	6	683				
CLSPN	63967	broad.mit.edu	37	1	36204980	36204980	+	Silent	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr1:36204980G>T	ENST00000318121.3	-	19	3351	c.3294C>A	c.(3292-3294)atC>atA	p.I1098I	CLSPN_ENST00000251195.5_Silent_p.I1098I|CLSPN_ENST00000466308.1_5'Flank|CLSPN_ENST00000373220.3_Silent_p.I1034I|CLSPN_ENST00000520551.1_Silent_p.I1045I|RP11-435D7.3_ENST00000373226.2_RNA	NM_022111.3	NP_071394.2	Q9HAW4	CLSPN_HUMAN	claspin	1098					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|mitotic DNA replication checkpoint (GO:0033314)|peptidyl-serine phosphorylation (GO:0018105)	nucleoplasm (GO:0005654)	anaphase-promoting complex binding (GO:0010997)|DNA binding (GO:0003677)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GTATTTTCTTGATTTGACTCT	0.408																																						ENST00000251195.5																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56						c.(3292-3294)atC>atA		claspin							252.0	231.0	238.0					1																	36204980		2203	4300	6503	SO:0001819	synonymous_variant	63967				activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding	g.chr1:36204980G>T	AF297866	CCDS396.1, CCDS53297.1	1p34.3	2010-06-24	2010-06-24		ENSG00000092853	ENSG00000092853			19715	protein-coding gene	gene with protein product		605434	"""claspin homolog (Xenopus laevis)"""			11090622, 12766152	Standard	NM_022111		Approved		uc001bzi.3	Q9HAW4	OTTHUMG00000004168	ENST00000318121.3:c.3294C>A	1.37:g.36204980G>T						CLSPN_ENST00000373220.3_Silent_p.I1034I|CLSPN_ENST00000318121.3_Silent_p.I1098I|CLSPN_ENST00000520551.1_Silent_p.I1045I	p.I1098I			Q9HAW4	CLSPN_HUMAN			19	3390	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	1098					A6NFL4|Q1RMC6|Q2KHM3|Q5VYG0|Q6P6H5|Q8IWI1	Silent	SNP	ENST00000318121.3	37	c.3294C>A	CCDS396.1																																																																																				0.408	CLSPN-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377857.1	NM_022111		12	882	1	0	1.49906e-05	1.49906e-05	0.00199465	12	882				
OR2B11	127623	broad.mit.edu	37	1	247614397	247614397	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr1:247614397C>A	ENST00000318749.6	-	1	911	c.888G>T	c.(886-888)ctG>ctT	p.L296L		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	296						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CTTTATTTCTCAGGGTGTAGG	0.478																																						ENST00000318749.6																			0				endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60						c.(886-888)ctG>ctT		olfactory receptor, family 2, subfamily B, member 11							182.0	196.0	191.0					1																	247614397		2203	4300	6503	SO:0001819	synonymous_variant	127623				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247614397C>A		CCDS31090.1	1q44	2012-08-09			ENSG00000177535	ENSG00000177535		"""GPCR / Class A : Olfactory receptors"""	31249	protein-coding gene	gene with protein product							Standard	NM_001004492		Approved		uc010pyx.2	Q5JQS5	OTTHUMG00000040572	ENST00000318749.6:c.888G>T	1.37:g.247614397C>A							p.L296L	NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		1	911	-	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	296					B2RP03	Silent	SNP	ENST00000318749.6	37	c.888G>T	CCDS31090.1																																																																																				0.478	OR2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097620.1	NM_001004492		13	1284	1	0	3.86212e-05	3.86212e-05	0.00414285	13	1284				
ERCC6	2074	broad.mit.edu	37	10	50678238	50678238	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr10:50678238G>T	ENST00000355832.5	-	18	3846	c.3768C>A	c.(3766-3768)ttC>ttA	p.F1256L	RP11-123B3.2_ENST00000423283.1_RNA|ERCC6_ENST00000542458.1_Missense_Mutation_p.F626L|ERCC6_ENST00000465653.1_5'UTR	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	1256					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CTGATTTTTTGAAAAGCTTTT	0.418								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000355832.5																			0				breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(3766-3768)ttC>ttA	Direct reversal of damage;Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 6							234.0	225.0	228.0					10																	50678238		2203	4300	6503	SO:0001583	missense	2074				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding	g.chr10:50678238G>T	L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"""Cockayne syndrome B protein"""	609413	"""excision repair cross-complementing rodent repair deficiency, complementation group 6"""	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.3768C>A	10.37:g.50678238G>T	ENSP00000348089:p.Phe1256Leu					ERCC6_ENST00000542458.1_Missense_Mutation_p.F626L|ERCC6_ENST00000465653.1_5'UTR|RP11-123B3.2_ENST00000423283.1_RNA	p.F1256L	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN			18	3846	-			1256					D3DX94|Q5W0L9	Missense_Mutation	SNP	ENST00000355832.5	37	c.3768C>A	CCDS7229.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.770035	0.69992	.	.	ENSG00000225830	ENST00000355832;ENST00000374129;ENST00000542458	D;D	0.90563	-2.69;-2.32	5.56	3.72	0.42706	.	.	.	.	.	D	0.94135	0.8119	M	0.75777	2.31	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	D	0.92906	0.6343	9	0.44086	T	0.13	-17.9643	12.137	0.53977	0.1394:0.0:0.8606:0.0	.	1256;633	Q03468;Q59FF6	ERCC6_HUMAN;.	L	1256;633;626	ENSP00000348089:F1256L;ENSP00000445134:F626L	ENSP00000348089:F1256L	F	-	3	2	ERCC6	50348244	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.737000	0.62066	0.723000	0.32274	-0.229000	0.12294	TTC		0.418	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	NM_000124		14	784	1	0	3.45872e-05	3.45872e-05	0.00404903	14	784				
CHRNB4	1143	broad.mit.edu	37	15	78927852	78927852	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr15:78927852G>T	ENST00000261751.3	-	2	244	c.133C>A	c.(133-135)Cgc>Agc	p.R45S	CHRNB4_ENST00000412074.2_Missense_Mutation_p.R45S|CHRNB4_ENST00000560511.1_5'UTR	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	45					action potential (GO:0001508)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|regulation of neurotransmitter secretion (GO:0046928)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22					Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)	GTGGCTGGGCGGATCAGGTTA	0.572																																						ENST00000261751.3																			0				endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						c.(133-135)Cgc>Agc		cholinergic receptor, nicotinic, beta 4 (neuronal)							214.0	203.0	207.0					15																	78927852		2196	4293	6489	SO:0001583	missense	1143				regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr15:78927852G>T	U48861	CCDS10306.1, CCDS58392.1	15q24	2012-02-11	2012-02-07		ENSG00000117971	ENSG00000117971		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1964	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 4 (neuronal)"""	118509	"""cholinergic receptor, nicotinic, beta polypeptide 4"""			2004777	Standard	NM_000750		Approved		uc002bed.1	P30926	OTTHUMG00000143860	ENST00000261751.3:c.133C>A	15.37:g.78927852G>T	ENSP00000261751:p.Arg45Ser					CHRNB4_ENST00000560511.1_5'UTR|CHRNB4_ENST00000412074.2_Missense_Mutation_p.R45S	p.R45S	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN			2	244	-			45					A4FTX5|E9PHE8|Q16607|Q4VBA5|Q8WXC8|Q9BQR4	Missense_Mutation	SNP	ENST00000261751.3	37	c.133C>A	CCDS10306.1	.	.	.	.	.	.	.	.	.	.	G	19.31	3.802420	0.70682	.	.	ENSG00000117971	ENST00000261751;ENST00000412074	D;D	0.82893	-1.66;-1.66	3.98	3.98	0.46160	Neurotransmitter-gated ion-channel ligand-binding (3);	0.074052	0.53938	D	0.000053	D	0.94653	0.8276	H	0.98466	4.24	0.49798	D	0.999829	D;D	0.89917	0.999;1.0	D;D	0.97110	0.999;1.0	D	0.97131	0.9818	10	0.87932	D	0	.	16.1772	0.81858	0.0:0.0:1.0:0.0	.	45;45	E9PHE8;P30926	.;ACHB4_HUMAN	S	45	ENSP00000261751:R45S;ENSP00000416386:R45S	ENSP00000261751:R45S	R	-	1	0	CHRNB4	76714907	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	5.391000	0.66266	1.797000	0.52628	0.430000	0.28490	CGC		0.572	CHRNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290108.1			9	925	1	0	3.86212e-05	3.86212e-05	0.00414285	9	925				
DDX58	23586	broad.mit.edu	37	9	32485248	32485248	+	Missense_Mutation	SNP	C	C	A	rs368484093		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr9:32485248C>A	ENST00000379883.2	-	10	1562	c.1405G>T	c.(1405-1407)Gac>Tac	p.D469Y	DDX58_ENST00000542096.1_Missense_Mutation_p.D398Y|DDX58_ENST00000545044.1_Missense_Mutation_p.D266Y|DDX58_ENST00000379882.1_Missense_Mutation_p.D424Y|DDX58_ENST00000379868.1_Missense_Mutation_p.D266Y	NM_014314.3	NP_055129.2	O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	469	Interaction with ZC3HAV1.				cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell migration (GO:0030334)|regulation of type III interferon production (GO:0034344)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RIG-I signaling pathway (GO:0039529)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|identical protein binding (GO:0042802)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		TTAAATTTGTCGCTAATCCGT	0.363																																						ENST00000379882.1																			0				autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27						c.(1270-1272)Gac>Tac		DEAD (Asp-Glu-Ala-Asp) box polypeptide 58							132.0	130.0	131.0					9																	32485248		2203	4300	6503	SO:0001583	missense	23586				detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding	g.chr9:32485248C>A	AF038963	CCDS6526.1	9p12	2011-08-05			ENSG00000107201	ENSG00000107201		"""DEAD-boxes"""	19102	protein-coding gene	gene with protein product	"""RNA helicase RIG-I"", ""retinoic acid inducible gene I"""	609631				21690088	Standard	NM_014314		Approved	RIG-I, FLJ13599, DKFZp434J1111	uc003zra.3	O95786	OTTHUMG00000019746	ENST00000379883.2:c.1405G>T	9.37:g.32485248C>A	ENSP00000369213:p.Asp469Tyr					DDX58_ENST00000545044.1_Missense_Mutation_p.D266Y|DDX58_ENST00000379868.1_Missense_Mutation_p.D266Y|DDX58_ENST00000379883.2_Missense_Mutation_p.D469Y|DDX58_ENST00000542096.1_Missense_Mutation_p.D398Y	p.D424Y			O95786	DDX58_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)	9	1427	-			469			Helicase ATP-binding.		A2RU81|Q5HYE1|Q5VYT1|Q9NT04	Missense_Mutation	SNP	ENST00000379883.2	37	c.1270G>T	CCDS6526.1	.	.	.	.	.	.	.	.	.	.	C	10.83	1.462544	0.26248	.	.	ENSG00000107201	ENST00000379882;ENST00000379883;ENST00000379868;ENST00000542096;ENST00000545044	T;T;T;T;T	0.12465	3.21;3.18;3.1;3.06;2.68	4.95	-6.27	0.02026	.	0.396898	0.23215	N	0.050630	T	0.26738	0.0654	M	0.85630	2.765	0.09310	N	0.999999	D;P;P;D	0.67145	0.982;0.886;0.91;0.996	P;P;B;P	0.54815	0.672;0.578;0.374;0.761	T	0.11567	-1.0582	10	0.62326	D	0.03	-3.7673	13.289	0.60260	0.0:0.2803:0.0:0.7197	.	266;424;398;469	F5H5W6;O95786-2;B3KWW1;O95786	.;.;.;DDX58_HUMAN	Y	424;469;266;398;266	ENSP00000369212:D424Y;ENSP00000369213:D469Y;ENSP00000369197:D266Y;ENSP00000442160:D398Y;ENSP00000443055:D266Y	ENSP00000369197:D266Y	D	-	1	0	DDX58	32475248	0.002000	0.14202	0.000000	0.03702	0.017000	0.09413	-0.292000	0.08332	-1.244000	0.02516	0.655000	0.94253	GAC		0.363	DDX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052011.1	NM_014314		9	691	1	0	6.40141e-05	6.40141e-05	0.00606515	9	691				
DNAH8	1769	broad.mit.edu	37	6	38705701	38705701	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr6:38705701C>A	ENST00000359357.3	+	5	672	c.418C>A	c.(418-420)Cat>Aat	p.H140N	DNAH8_ENST00000449981.2_Missense_Mutation_p.H357N|DNAH8_ENST00000441566.1_Missense_Mutation_p.H140N			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	140					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)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGAAACTGTTCATCAGCTGGA	0.408																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(418-420)Cat>Aat		dynein, axonemal, heavy chain 8							136.0	134.0	135.0					6																	38705701		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38705701C>A	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.418C>A	6.37:g.38705701C>A	ENSP00000352312:p.His140Asn					DNAH8_ENST00000441566.1_Missense_Mutation_p.H140N|DNAH8_ENST00000449981.2_Missense_Mutation_p.H357N	p.H140N							5	672	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.418C>A		.	.	.	.	.	.	.	.	.	.	C	5.844	0.339911	0.11069	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.52526	0.66;0.66;0.66	5.62	4.76	0.60689	Dynein heavy chain, domain-1 (1);	0.431265	0.24467	N	0.038261	T	0.12092	0.0294	N	0.20685	0.6	0.25144	N	0.990471	B	0.09022	0.002	B	0.22601	0.04	T	0.18713	-1.0328	10	0.17369	T	0.5	.	6.7968	0.23729	0.143:0.706:0.0:0.151	.	140	Q96JB1	DYH8_HUMAN	N	345;345;140;140	ENSP00000333363:H345N;ENSP00000352312:H140N;ENSP00000402294:H140N	ENSP00000333363:H345N	H	+	1	0	DNAH8	38813679	1.000000	0.71417	0.972000	0.41901	0.390000	0.30446	2.542000	0.45744	1.370000	0.46153	-0.142000	0.14014	CAT		0.408	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		9	542	1	0	3.07112e-06	6.40141e-05	0.000526632	9	542				
ASH1L	55870	broad.mit.edu	37	1	155447701	155447701	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr1:155447701C>A	ENST00000368346.3	-	3	5599	c.4960G>T	c.(4960-4962)Gaa>Taa	p.E1654*	ASH1L_ENST00000392403.3_Nonsense_Mutation_p.E1654*			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1654	Ser-rich.				cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			ACTGCCCTTTCGTTAGAAGGC	0.428																																						ENST00000368346.3																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124						c.(4960-4962)Gaa>Taa		ash1 (absent, small, or homeotic)-like (Drosophila)							71.0	76.0	74.0					1																	155447701		2203	4300	6503	SO:0001587	stop_gained	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155447701C>A	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.4960G>T	1.37:g.155447701C>A	ENSP00000357330:p.Glu1654*					ASH1L_ENST00000392403.3_Nonsense_Mutation_p.E1654*	p.E1654*			Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		3	5599	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		1654			Ser-rich.		Q59GP1|Q5T714|Q5T715|Q9P2C7	Nonsense_Mutation	SNP	ENST00000368346.3	37	c.4960G>T		.	.	.	.	.	.	.	.	.	.	C	49	15.116674	0.99823	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	.	.	.	5.44	5.44	0.79542	.	0.067417	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	19.0495	0.93038	0.0:1.0:0.0:0.0	.	.	.	.	X	1654	.	ENSP00000357330:E1654X	E	-	1	0	ASH1L	153714325	0.998000	0.40836	0.998000	0.56505	0.955000	0.61496	4.846000	0.62860	2.832000	0.97577	0.655000	0.94253	GAA		0.428	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		10	864	1	0	6.40141e-05	6.40141e-05	0.00606515	10	864				
ITIH5	80760	broad.mit.edu	37	10	7621857	7621857	+	Missense_Mutation	SNP	C	C	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr10:7621857C>T	ENST00000256861.6	-	9	1357	c.1279G>A	c.(1279-1281)Gcc>Acc	p.A427T	ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397145.2_Missense_Mutation_p.A427T|ITIH5_ENST00000397146.2_Missense_Mutation_p.A427T|ITIH5_ENST00000446830.2_Missense_Mutation_p.A209T|ITIH5_ENST00000298441.6_Missense_Mutation_p.A213T	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	427	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.A427S(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TGGCCTCGGGCGGCCTCTCGG	0.617																																						ENST00000256861.6																			1	Substitution - Missense(1)	p.A427S(1)	lung(1)	NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						c.(1279-1281)Gcc>Acc		inter-alpha-trypsin inhibitor heavy chain family, member 5							136.0	123.0	128.0					10																	7621857		2203	4300	6503	SO:0001583	missense	80760				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7621857C>T			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"""inter-alpha (globulin) inhibitor H5"""			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.1279G>A	10.37:g.7621857C>T	ENSP00000256861:p.Ala427Thr					ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000446830.2_Missense_Mutation_p.A209T|ITIH5_ENST00000397145.2_Missense_Mutation_p.A427T|ITIH5_ENST00000397146.2_Missense_Mutation_p.A427T|ITIH5_ENST00000298441.6_Missense_Mutation_p.A213T	p.A427T	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN			9	1357	-			427			VWFA.		Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	ENST00000256861.6	37	c.1279G>A		.	.	.	.	.	.	.	.	.	.	C	6.771	0.511196	0.12883	.	.	ENSG00000123243	ENST00000256861;ENST00000397146;ENST00000298441;ENST00000446830;ENST00000397145	T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13	5.2	1.74	0.24563	von Willebrand factor, type A (3);	0.388819	0.30979	N	0.008484	T	0.63896	0.2550	.	.	.	0.09310	N	1	B;B;B	0.25563	0.129;0.056;0.046	B;B;B	0.17433	0.018;0.01;0.006	T	0.52275	-0.8597	9	0.42905	T	0.14	-17.5123	8.1036	0.30872	0.0:0.4401:0.0:0.5599	.	427;427;213	G5E9D8;Q86UX2;Q86UX2-3	.;ITIH5_HUMAN;.	T	427;427;213;209;427	ENSP00000256861:A427T;ENSP00000380333:A427T;ENSP00000298441:A213T;ENSP00000387969:A209T;ENSP00000380332:A427T	ENSP00000256861:A427T	A	-	1	0	ITIH5	7661863	0.733000	0.28132	0.002000	0.10522	0.111000	0.19643	1.263000	0.33004	0.052000	0.16007	0.462000	0.41574	GCC		0.617	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569		6	299	0	0	0	1.12685e-05	0	6	299				
MKI67	4288	broad.mit.edu	37	10	129904176	129904176	+	Silent	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr10:129904176G>T	ENST00000368654.3	-	13	6303	c.5928C>A	c.(5926-5928)atC>atA	p.I1976I	MKI67_ENST00000368653.3_Silent_p.I1616I	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1976	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)				ATACTTCTGTGATTTTGTCAT	0.473																																						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.(5926-5928)atC>atA		marker of proliferation Ki-67							193.0	198.0	196.0					10																	129904176		2203	4300	6503	SO:0001819	synonymous_variant	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129904176G>T	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.5928C>A	10.37:g.129904176G>T						MKI67_ENST00000368653.3_Silent_p.I1616I	p.I1976I	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	6303	-		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)	1976			16 X 122 AA approximate repeats.		Q5VWH2	Silent	SNP	ENST00000368654.3	37	c.5928C>A	CCDS7659.1																																																																																				0.473	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		16	1122	1	0	9.31168e-06	9.31168e-06	0.00133376	16	1122				
LOC100287934	100287934	broad.mit.edu	37	1	745371	745371	+	RNA	DEL	A	A	-	rs146246821		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:745371delA	ENST00000435300.1	-	0	804				RP11-206L10.8_ENST00000447500.1_RNA																							TTTATTTCATAAGATAGCATT	0.299																																						ENST00000447500.1																			0																																																			0							g.chr1:745371delA																													1.37:g.745371delA														0	95	-									RNA	DEL	ENST00000435300.1	37																																																																																						0.299	RP11-206L10.10-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000007014.1			7	83						7	83	---	---	---	---
TRNAU1AP	54952	broad.mit.edu	37	1	28906819	28906820	+	IGR	INS	-	-	A	rs147786269|rs397936635		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:28906819_28906820insA	ENST00000373830.3	+	0	1793				SNHG12_ENST00000384581.1_RNA|SNHG12_ENST00000488745.1_RNA|SNHG12_ENST00000384584.1_RNA|SNHG12_ENST00000384342.1_RNA|SNORD99_ENST00000408612.1_RNA|SNHG12_ENST00000531126.1_RNA|SNHG12_ENST00000475441.1_RNA|SNHG12_ENST00000483436.1_RNA	NM_017846.4	NP_060316.1	Q9NX07	TSAP1_HUMAN	tRNA selenocysteine 1 associated protein 1						selenocysteine incorporation (GO:0001514)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	8						gactccgtctcaaaaaaaaaaa	0.49																																						ENST00000488745.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr1:28906819_28906820insA		CCDS324.1	1p35.3	2013-02-12	2008-09-05	2008-09-05	ENSG00000180098	ENSG00000180098		"""RNA binding motif (RRM) containing"""	30813	protein-coding gene	gene with protein product			"""tRNA selenocysteine associated protein 1"""	TRSPAP1		10606267, 16230358	Standard	NM_017846		Approved	SECP43, FLJ20503	uc001bqi.3	Q9NX07	OTTHUMG00000003653		1.37:g.28906830_28906830dupA						SNHG12_ENST00000483436.1_RNA|SNHG12_ENST00000531126.1_RNA|SNHG12_ENST00000475441.1_RNA								0	1100	-								Q86SU7	RNA	INS	ENST00000373830.3	37		CCDS324.1																																																																																				0.490	TRNAU1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010346.1	NM_017846		11	45						11	45	---	---	---	---
GBP3	2635	broad.mit.edu	37	1	89486281	89486283	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:89486281_89486283delCCA	ENST00000370481.4	-	2	342_344	c.122_124delTGG	c.(121-126)gtggca>gca	p.V41del	GBP3_ENST00000475853.2_5'UTR|Y_RNA_ENST00000365515.1_RNA	NM_018284.2	NP_060754.2	Q8WXF7	ATLA1_HUMAN	guanylate binding protein 3	70					axonogenesis (GO:0007409)|cell death (GO:0008219)|endoplasmic reticulum organization (GO:0007029)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi cis cisterna (GO:0000137)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		CCCACAATTGCCACCACCACCAC	0.517																																						ENST00000370481.4																			0				breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26						c.(121-126)gca>g		guanylate binding protein 3																																				SO:0001651	inframe_deletion	2635					integral to membrane	GTP binding|GTPase activity	g.chr1:89486281_89486283delCCA	BC063819	CCDS717.2	1p22.2	2008-02-05			ENSG00000117226	ENSG00000117226			4184	protein-coding gene	gene with protein product		600413				7518790	Standard	NM_018284		Approved	FLJ10961	uc001dmt.3	Q9H0R5	OTTHUMG00000010616	ENST00000370481.4:c.122_124delTGG	1.37:g.89486290_89486292delCCA	ENSP00000359512:p.Val41del					GBP3_ENST00000475853.2_5'UTR	p.VA41del	NM_018284.2	NP_060754.2	Q9H0R5	GBP3_HUMAN		all cancers(265;0.0103)|Epithelial(280;0.0293)	2	342_344	-		Lung NSC(277;0.123)	41					A6NND5|A8K2C0|G5E9T1|O95890|Q69YH7|Q96FK0	In_Frame_Del	DEL	ENST00000370481.4	37	c.122_124delTGG	CCDS717.2																																																																																				0.517	GBP3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313541.3	NM_018284		8	637						8	637	---	---	---	---
TRIM33	51592	broad.mit.edu	37	1	114968116	114968118	+	In_Frame_Del	DEL	TGT	TGT	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:114968116_114968118delTGT	ENST00000358465.2	-	9	1731_1733	c.1648_1650delACA	c.(1648-1650)acadel	p.T550del	TRIM33_ENST00000450349.2_In_Frame_Del_p.T158del|TRIM33_ENST00000369543.2_In_Frame_Del_p.T550del	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	550	Poly-Thr.				gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GATGCTGTTGTGTTGTTGTTGTT	0.429			T	RET	papillary thyroid																																	ENST00000358465.2				Dom	yes		1	1p13	51592	T	""" tripartite motif-containing 33 (PTC7,TIF1G)"""			E	RET		papillary thyroid		0				breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48						c.(1648-1650)del		tripartite motif containing 33																																				SO:0001651	inframe_deletion	51592				negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding	g.chr1:114968116_114968118delTGT	AF220136	CCDS872.1, CCDS873.1	1p13.1	2014-02-17	2011-01-25		ENSG00000197323	ENSG00000197323		"""Tripartite motif containing / Tripartite motif containing"", ""Zinc fingers, PHD-type"", ""RING-type (C3HC4) zinc fingers"""	16290	protein-coding gene	gene with protein product	"""transcriptional intermediary factor 1 gamma"", ""ret-fused gene 7"""	605769	"""tripartite motif-containing 33"""			11331580, 10022127	Standard	XM_005270936		Approved	TIF1GAMMA, FLJ11429, KIAA1113, TIFGAMMA, RFG7, TF1G, TIF1G, PTC7	uc001eew.3	Q9UPN9	OTTHUMG00000011891	ENST00000358465.2:c.1648_1650delACA	1.37:g.114968125_114968127delTGT	ENSP00000351250:p.Thr550del					TRIM33_ENST00000450349.2_In_Frame_Del_p.T158del|TRIM33_ENST00000369543.2_In_Frame_Del_p.T550del	p.T550del	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	9	1731_1733	-	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	550			Poly-Thr.		O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	In_Frame_Del	DEL	ENST00000358465.2	37	c.1648_1650delACA	CCDS872.1																																																																																				0.429	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032854.1	NM_015906		10	1447						10	1447	---	---	---	---
SEC22B	9554	broad.mit.edu	37	1	145109312	145109313	+	RNA	INS	-	-	A	rs9424678|rs11370361|rs142440425		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:145109312_145109313insA	ENST00000453618.1	+	0	512							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)											aaaccaaaaacaaaAAAAAAAG	0.416																																						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.chr1:145109312_145109313insA	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.145109322_145109322dupA										O75396	SC22B_HUMAN			0	512	+								A8K1G0	RNA	INS	ENST00000453618.1	37																																																																																						0.416	SEC22B-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000038523.5	NM_004892		7	31						7	31	---	---	---	---
POLR3GL	84265	broad.mit.edu	37	1	145457040	145457042	+	In_Frame_Del	DEL	TCT	TCT	-	rs587765256		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:145457040_145457042delTCT	ENST00000369314.1	-	7	625_627	c.519_521delAGA	c.(517-522)gaagag>gag	p.173_174EE>E	POLR3GL_ENST00000369313.3_In_Frame_Del_p.150_151EE>E	NM_032305.1	NP_115681.1	Q9BT43	RPC7L_HUMAN	polymerase (RNA) III (DNA directed) polypeptide G (32kD)-like	173	Glu-rich.				gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)				endometrium(2)|large_intestine(1)|lung(1)	4	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ctcttccttctcttcttcttctt	0.448																																						ENST00000369314.1																			0				endometrium(2)|large_intestine(1)|lung(1)	4						c.(517-522)gag>ga		polymerase (RNA) III (DNA directed) polypeptide G (32kD)-like																																				SO:0001651	inframe_deletion	84265							g.chr1:145457040_145457042delTCT	BC004355	CCDS72875.1	1q21.1	2008-02-05	2006-12-14		ENSG00000121851	ENSG00000121851			28466	protein-coding gene	gene with protein product			"""polymerase (RNA) III (DNA directed) polypeptide G (32kD) like"""			12477932	Standard	NM_032305		Approved	flj32422, MGC3200	uc001enp.1	Q9BT43	OTTHUMG00000013739	ENST00000369314.1:c.519_521delAGA	1.37:g.145457049_145457051delTCT	ENSP00000358320:p.Glu174del					POLR3GL_ENST00000369313.3_In_Frame_Del_p.EE150del	p.EE173del	NM_032305.1	NP_115681.1	Q9BT43	RPC7L_HUMAN			7	625_627	-	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		173			Glu-rich.		B1MVG5	In_Frame_Del	DEL	ENST00000369314.1	37	c.519_521delAGA	CCDS914.1																																																																																				0.448	POLR3GL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038510.1	NM_032305		8	125						8	125	---	---	---	---
TCHH	7062	broad.mit.edu	37	1	152082957	152082959	+	In_Frame_Del	DEL	CTC	CTC	-	rs143222885	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:152082957_152082959delCTC	ENST00000368804.1	-	2	2733_2735	c.2734_2736delGAG	c.(2734-2736)gagdel	p.E912del		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	912	10 X 30 AA tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCTCTGTAGCTCCTCCTCCTCC	0.586																																						ENST00000368804.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(2734-2736)del		trichohyalin																																				SO:0001651	inframe_deletion	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152082957_152082959delCTC	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.2734_2736delGAG	1.37:g.152082966_152082968delCTC	ENSP00000357794:p.Glu912del						p.E912del	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	2733_2735	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		912			10 X 30 AA tandem repeats.		Q5VUI3	In_Frame_Del	DEL	ENST00000368804.1	37	c.2734_2736delGAG	CCDS41396.1																																																																																				0.586	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		11	1045						11	1045	---	---	---	---
CD1D	912	broad.mit.edu	37	1	158151257	158151257	+	Frame_Shift_Del	DEL	T	T	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:158151257delT	ENST00000368171.3	+	3	573	c.74delT	c.(73-75)cttfs	p.L25fs		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	25					antigen processing and presentation, endogenous lipid antigen via MHC class Ib (GO:0048006)|detection of bacterium (GO:0016045)|heterotypic cell-cell adhesion (GO:0034113)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of T cell proliferation (GO:0042102)|T cell selection (GO:0045058)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	beta-2-microglobulin binding (GO:0030881)|cell adhesion molecule binding (GO:0050839)|exogenous lipid antigen binding (GO:0030884)|histone binding (GO:0042393)|lipid antigen binding (GO:0030882)|receptor activity (GO:0004872)			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					CCGCAAAGGCTTTTCCCCCTC	0.592																																						ENST00000368171.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30						c.(73-75)ctfs		CD1d molecule							202.0	226.0	218.0					1																	158151257		2203	4300	6503	SO:0001589	frameshift_variant	912				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding	g.chr1:158151257delT	BC027926	CCDS1173.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158473	ENSG00000158473		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1637	protein-coding gene	gene with protein product		188410	"""CD1D antigen, d polypeptide"", ""CD1d antigen"""			2463622	Standard	NM_001766		Approved		uc001frr.3	P15813	OTTHUMG00000022436	ENST00000368171.3:c.74delT	1.37:g.158151257delT	ENSP00000357153:p.Leu25fs						p.L25fs	NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN			3	573	+	all_hematologic(112;0.0378)		25					D3DVD5|Q5W0J3|Q9UMM3|Q9Y5M4	Frame_Shift_Del	DEL	ENST00000368171.3	37	c.74delT	CCDS1173.1																																																																																				0.592	CD1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058340.1	NM_001766		7	1960						7	1960	---	---	---	---
PCP4L1	654790	broad.mit.edu	37	1	161254154	161254156	+	In_Frame_Del	DEL	GGA	GGA	-	rs549268381		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:161254154_161254156delGGA	ENST00000504449.1	+	3	338_340	c.90_92delGGA	c.(88-93)gcggag>gcg	p.E35del		NM_001102566.1	NP_001096036.1	A6NKN8	PC4L1_HUMAN	Purkinje cell protein 4 like 1	35								p.A30A(1)|p.E35delE(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4	all_cancers(52;4.16e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TCAAGAAGGCGGAGGAGGAGGAG	0.488																																						ENST00000504449.1																			2	Substitution - coding silent(1)|Deletion - In frame(1)	p.A30A(1)|p.E35delE(1)	large_intestine(1)|lung(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						c.(88-93)gcg>gc		Purkinje cell protein 4 like 1																																				SO:0001651	inframe_deletion	654790							g.chr1:161254154_161254156delGGA	BC028905	CCDS53412.1	1q23.3	2006-02-27	2006-02-27		ENSG00000248485	ENSG00000248485			20448	protein-coding gene	gene with protein product			"""purkinje cell protein 4 like 1"""				Standard	NM_001102566		Approved	IQM1	uc001gad.3	A6NKN8	OTTHUMG00000034340	ENST00000504449.1:c.90_92delGGA	1.37:g.161254163_161254165delGGA	ENSP00000426296:p.Glu35del						p.AE30del	NM_001102566.1	NP_001096036.1	A6NKN8	PC4L1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		3	338_340	+	all_cancers(52;4.16e-18)|all_hematologic(112;0.093)		30					B2RV24|B9EJG4	In_Frame_Del	DEL	ENST00000504449.1	37	c.90_92delGGA	CCDS53412.1																																																																																				0.488	PCP4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082986.2			7	465						7	465	---	---	---	---
ZC3H11A	9877	broad.mit.edu	37	1	203816503	203816504	+	Frame_Shift_Ins	INS	-	-	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:203816503_203816504insA	ENST00000545588.1	+	12	5061_5062	c.1234_1235insA	c.(1234-1236)gaafs	p.E412fs	ZC3H11A_ENST00000367210.1_Frame_Shift_Ins_p.E412fs|ZC3H11A_ENST00000367212.3_Frame_Shift_Ins_p.E412fs|ZC3H11A_ENST00000367214.1_Frame_Shift_Ins_p.E412fs|ZC3H11A_ENST00000332127.4_Frame_Shift_Ins_p.E412fs	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	412				E -> K (in Ref. 3; CAH10525). {ECO:0000305}.	poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GGTCCTGGCTGAAAAAAAACAT	0.386																																						ENST00000545588.1																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(1234-1236)aaafs		zinc finger CCCH-type containing 11A																																				SO:0001589	frameshift_variant	9877						nucleic acid binding|protein binding|zinc ion binding	g.chr1:203816503_203816504insA		CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"""Zinc fingers, CCCH-type domain containing"""	29093	protein-coding gene	gene with protein product		613513	"""zinc finger CCCH-type domain containing 11A"""	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.1242dupA	1.37:g.203816511_203816511dupA	ENSP00000438527:p.Glu412fs					ZC3H11A_ENST00000332127.4_Frame_Shift_Ins_p.K412fs|ZC3H11A_ENST00000367212.3_Frame_Shift_Ins_p.K412fs|ZC3H11A_ENST00000367210.1_Frame_Shift_Ins_p.K412fs|ZC3H11A_ENST00000367214.1_Frame_Shift_Ins_p.K412fs	p.K412fs	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		12	5061_5062	+	all_cancers(21;0.0904)|all_epithelial(62;0.234)		412	E -> K (in Ref. 3; CAH10525).				Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Frame_Shift_Ins	INS	ENST00000545588.1	37	c.1234_1235insA	CCDS30978.1																																																																																				0.386	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087471.3	NM_014827		8	366						8	366	---	---	---	---
ASXL2	55252	broad.mit.edu	37	2	26022304	26022306	+	In_Frame_Del	DEL	CTG	CTG	-	rs539079430		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:26022304_26022306delCTG	ENST00000435504.4	-	5	644_646	c.351_353delCAG	c.(349-354)agcagt>agt	p.117_118SS>S	ASXL2_ENST00000336112.4_In_Frame_Del_p.89_90SS>S|ASXL2_ENST00000272341.4_5'UTR|ASXL2_ENST00000497092.1_5'UTR			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	117	Ser-rich.				adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCACCATCACTGCTGCTGCTGC	0.463																																						ENST00000435504.4																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33						c.(349-354)agt>ag		additional sex combs like 2 (Drosophila)																																				SO:0001651	inframe_deletion	55252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	g.chr2:26022304_26022306delCTG			2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.351_353delCAG	2.37:g.26022313_26022315delCTG	ENSP00000391447:p.Ser118del					ASXL2_ENST00000272341.4_5'UTR|ASXL2_ENST00000336112.4_In_Frame_Del_p.SS89del|ASXL2_ENST00000497092.1_5'UTR	p.SS117del			Q76L83	ASXL2_HUMAN			5	644_646	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		117			Ser-rich.		Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	In_Frame_Del	DEL	ENST00000435504.4	37	c.351_353delCAG																																																																																					0.463	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3	NM_018263		13	1033						13	1033	---	---	---	---
C2orf71	388939	broad.mit.edu	37	2	29295647	29295649	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	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		12	997						12	997	---	---	---	---
PCGF1	84759	broad.mit.edu	37	2	74729977	74729977	+	IGR	DEL	T	T	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:74729977delT	ENST00000233630.6	-	0	1792				LBX2-AS1_ENST00000603175.1_RNA|LBX2-AS1_ENST00000548978.2_RNA|PCGF1_ENST00000480844.2_5'Flank|LBX2_ENST00000341396.2_Frame_Shift_Del_p.R4fs|RP11-523H20.3_ENST00000606287.1_RNA|LBX2_ENST00000550249.1_5'UTR|LBX2_ENST00000460508.3_Frame_Shift_Del_p.R4fs	NM_032673.2	NP_116062.2	Q9BSM1	PCGF1_HUMAN	polycomb group ring finger 1						histone H2A monoubiquitination (GO:0035518)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(2)	12						AGGGAAGTCCTTTTTCCCATC	0.622																																						ENST00000460508.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(1)	4						c.(10-12)ggfs		ladybird homeobox 2							31.0	34.0	33.0					2																	74729977		2203	4300	6503	SO:0001628	intergenic_variant	85474					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:74729977delT	AF087884	CCDS1946.2	2p13.1	2013-01-09			ENSG00000115289	ENSG00000115289		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	17615	protein-coding gene	gene with protein product		610231				11287196	Standard	NM_032673		Approved	NSPC1, RNF68, MGC10882	uc002slz.3	Q9BSM1	OTTHUMG00000129954		2.37:g.74729977delT						LBX2-AS1_ENST00000603175.1_RNA|LBX2-AS1_ENST00000548978.2_RNA|LBX2_ENST00000550249.1_5'UTR|LBX2_ENST00000341396.2_Frame_Shift_Del_p.R4fs	p.R4fs	NM_001009812.1	NP_001009812.1	Q6XYB7	LBX2_HUMAN			1	466	-			0					Q7Z506	Frame_Shift_Del	DEL	ENST00000233630.6	37	c.10delA	CCDS1946.2																																																																																				0.622	PCGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252216.1	NM_032673		7	308						7	308	---	---	---	---
DUSP2	1844	broad.mit.edu	37	2	96809973	96809973	+	Frame_Shift_Del	DEL	A	A	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:96809973delA	ENST00000288943.4	-	3	735	c.650delT	c.(649-651)ttcfs	p.F217fs	AC012307.2_ENST00000449242.1_lincRNA	NM_004418.3	NP_004409.1	Q05923	DUS2_HUMAN	dual specificity phosphatase 2	217					endoderm formation (GO:0001706)|inactivation of MAPK activity (GO:0000188)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|protein tyrosine/threonine phosphatase activity (GO:0008330)			NS(1)|breast(1)|lung(2)|skin(1)	5		Ovarian(717;0.0228)				CTTGTAGCGGAAAAGGCCCTC	0.602																																						ENST00000288943.4																			0				NS(1)|breast(1)|lung(2)|skin(1)	5						c.(649-651)tcfs		dual specificity phosphatase 2							87.0	80.0	83.0					2																	96809973		2203	4300	6503	SO:0001589	frameshift_variant	1844				endoderm formation|inactivation of MAPK activity|regulation of apoptosis	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity	g.chr2:96809973delA	L11329	CCDS2016.1	2q11	2011-06-09			ENSG00000158050	ENSG00000158050		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3068	protein-coding gene	gene with protein product		603068				7806236, 7590752, 12673251	Standard	NM_004418		Approved	PAC-1	uc002svk.4	Q05923	OTTHUMG00000130456	ENST00000288943.4:c.650delT	2.37:g.96809973delA	ENSP00000288943:p.Phe217fs						p.F217fs	NM_004418.3	NP_004409.1	Q05923	DUS2_HUMAN			3	735	-		Ovarian(717;0.0228)	217					Q53T45	Frame_Shift_Del	DEL	ENST00000288943.4	37	c.650delT	CCDS2016.1																																																																																				0.602	DUSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252847.1	NM_004418		7	724						7	724	---	---	---	---
TMEM127	55654	broad.mit.edu	37	2	96919781	96919783	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:96919781_96919783delTGC	ENST00000258439.3	-	4	736_738	c.480_482delGCA	c.(478-483)cagcat>cat	p.Q160del	TMEM127_ENST00000432959.1_In_Frame_Del_p.Q160del|TMEM127_ENST00000435268.1_In_Frame_Del_p.Q76del	NM_001193304.2|NM_017849.3	NP_001180233.1|NP_060319.1	O75204	TM127_HUMAN	transmembrane protein 127	160					negative regulation of cell proliferation (GO:0008285)|negative regulation of TOR signaling (GO:0032007)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	5						GTACTTCTTATGCTGCTGCTGCT	0.557																																						ENST00000258439.2																			0				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	5						c.(478-483)cat>ca		transmembrane protein 127																																				SO:0001651	inframe_deletion	55654				negative regulation of cell proliferation|negative regulation of TOR signaling cascade	cytoplasm|integral to membrane|plasma membrane		g.chr2:96919781_96919783delTGC	AK000514	CCDS2018.1	2q11.2	2014-09-17			ENSG00000135956	ENSG00000135956			26038	protein-coding gene	gene with protein product		613403				10493829	Standard	NM_017849		Approved	FLJ20507, FLJ22257	uc002svr.3	O75204	OTTHUMG00000130454	ENST00000258439.3:c.480_482delGCA	2.37:g.96919790_96919792delTGC	ENSP00000258439:p.Gln160del					TMEM127_ENST00000432959.1_In_Frame_Del_p.QH160del|TMEM127_ENST00000435268.1_In_Frame_Del_p.QH76del	p.QH160del	NM_001193304.2|NM_017849.3	NP_001180233.1|NP_060319.1	O75204	TM127_HUMAN			4	736_738	-			160					D3DXH0	In_Frame_Del	DEL	ENST00000258439.3	37	c.480_482delGCA	CCDS2018.1																																																																																				0.557	TMEM127-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252845.3	NM_017849		10	458						10	458	---	---	---	---
ERCC3	2071	broad.mit.edu	37	2	128046944	128046946	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:128046944_128046946delTCT	ENST00000285398.2	-	6	883_885	c.789_791delAGA	c.(787-792)gaagag>gag	p.263_264EE>E	ERCC3_ENST00000493187.2_In_Frame_Del_p.199_200EE>E	NM_000122.1	NP_000113.1	P19447	ERCC3_HUMAN	excision repair cross-complementation group 3	263	Asp/Glu-rich (acidic).				7-methylguanosine mRNA capping (GO:0006370)|apoptotic process (GO:0006915)|DNA repair (GO:0006281)|DNA topological change (GO:0006265)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA duplex unwinding (GO:0000717)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein localization (GO:0008104)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|response to UV (GO:0009411)|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 initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' DNA helicase activity (GO:0043138)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|damaged DNA binding (GO:0003684)|dATP binding (GO:0032564)|DNA binding (GO:0003677)|GTP binding (GO:0005525)|peptide binding (GO:0042277)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		TGTCTGTGTCTCTTCTTCTTCTT	0.473			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000493187.2			yes	Rec		Xeroderma pigmentosum (B)	2	2q21	2071	"""Mis, S"""	"""excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing)"""			E		"""skin basal cell, skin squamous cell, melanoma"""			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31						c.(595-600)gag>ga	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 3				16,4250		4,8,2121						4.7	1.0			85	43,8211		4,35,4088	no	coding	ERCC3	NM_000122.1		8,43,6209	A1A1,A1R,RR		0.521,0.3751,0.4712				59,12461				SO:0001651	inframe_deletion	2071	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding	g.chr2:128046944_128046946delTCT	M31899	CCDS2144.1	2q21	2014-09-17	2014-03-07		ENSG00000163161	ENSG00000163161		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	3435	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group B complementing"""	133510	"""excision repair cross-complementing rodent repair deficiency, complementation group 3"""			8202161	Standard	NM_000122		Approved	XPB, BTF2, RAD25, TFIIH, GTF2H	uc002toh.1	P19447	OTTHUMG00000131530	ENST00000285398.2:c.789_791delAGA	2.37:g.128046953_128046955delTCT	ENSP00000285398:p.Glu264del					ERCC3_ENST00000285398.2_In_Frame_Del_p.EE263del	p.EE199del			P19447	ERCC3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.073)	6	1060_1062	-	Colorectal(110;0.1)		263					Q53QM0	In_Frame_Del	DEL	ENST00000285398.2	37	c.597_599delAGA	CCDS2144.1																																																																																				0.473	ERCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331028.1	NM_000122		10	383						10	383	---	---	---	---
PPIG	9360	broad.mit.edu	37	2	170493804	170493804	+	Frame_Shift_Del	DEL	A	A	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:170493804delA	ENST00000260970.3	+	14	2256	c.2036delA	c.(2035-2037)gaafs	p.E679fs	PPIG_ENST00000409714.3_Frame_Shift_Del_p.E664fs|PPIG_ENST00000448752.2_Frame_Shift_Del_p.E679fs	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	679					protein folding (GO:0006457)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	AACAGCAGGGAAAAAAAGGCT	0.358																																						ENST00000260970.3																			0				NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43						c.(2035-2037)gafs		peptidylprolyl isomerase G (cyclophilin G)	L-Proline(DB00172)						61.0	65.0	64.0					2																	170493804		2203	4300	6503	SO:0001589	frameshift_variant	9360				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr2:170493804delA	X99717	CCDS2235.1	2q31.1	2010-07-23	2006-01-12		ENSG00000138398	ENSG00000138398	6.1.1.16		14650	protein-coding gene	gene with protein product	"""SR-related CTD-associated factor 10"""	606093	"""peptidyl-prolyl isomerase G (cyclophilin G)"""			8973360, 9153302	Standard	NM_004792		Approved	CARS-Cyp, SRCyp, SCAF10	uc002uez.3	Q13427	OTTHUMG00000132206	ENST00000260970.3:c.2036delA	2.37:g.170493804delA	ENSP00000260970:p.Glu679fs					PPIG_ENST00000448752.2_Frame_Shift_Del_p.E679fs|PPIG_ENST00000409714.3_Frame_Shift_Del_p.E664fs	p.E679fs	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN			14	2256	+			679					D3DPC5|D3DPC6|O00706|Q53R40|Q53SN4|Q96DG9	Frame_Shift_Del	DEL	ENST00000260970.3	37	c.2036delA	CCDS2235.1																																																																																				0.358	PPIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255264.2			9	736						9	736	---	---	---	---
DNAH7	56171	broad.mit.edu	37	2	196801374	196801374	+	Frame_Shift_Del	DEL	A	A	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:196801374delA	ENST00000312428.6	-	20	3321	c.3221delT	c.(3220-3222)ttgfs	p.L1074fs		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1074	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						ATCATTGGACAAAAAAAAGAA	0.318																																						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.(3220-3222)tgfs		dynein, axonemal, heavy chain 7							73.0	72.0	72.0					2																	196801374		1799	4060	5859	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.chr2:196801374delA	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.3221delT	2.37:g.196801374delA	ENSP00000311273:p.Leu1074fs						p.L1074fs	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			20	3321	-			1074			Stem (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Frame_Shift_Del	DEL	ENST00000312428.6	37	c.3221delT	CCDS42794.1																																																																																				0.318	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		9	506						9	506	---	---	---	---
UGT1A1	54658	broad.mit.edu	37	2	234526711	234526711	+	Frame_Shift_Del	DEL	T	T	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:234526711delT	ENST00000373450.4	+	1	421	c.358delT	c.(358-360)tttfs	p.F121fs		NM_019076.4	NP_061949.3	P22309	UD11_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A1	124					acute-phase response (GO:0006953)|bilirubin conjugation (GO:0006789)|biphenyl catabolic process (GO:0070980)|cellular glucuronidation (GO:0052695)|cellular response to ethanol (GO:0071361)|cellular response to glucocorticoid stimulus (GO:0071385)|digestion (GO:0007586)|drug metabolic process (GO:0017144)|estrogen metabolic process (GO:0008210)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|heme catabolic process (GO:0042167)|heterocycle metabolic process (GO:0046483)|liver development (GO:0001889)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of steroid metabolic process (GO:0045939)|organ regeneration (GO:0031100)|porphyrin-containing compound metabolic process (GO:0006778)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	cytochrome complex (GO:0070069)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|steroid binding (GO:0005496)			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Acetaminophen(DB00316)|Adenine(DB00173)|Atorvastatin(DB01076)|Axitinib(DB06626)|Diclofenac(DB00586)|Dolutegravir(DB08930)|Eltrombopag(DB06210)|Erlotinib(DB00530)|Estradiol(DB00783)|Etoposide(DB00773)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indacaterol(DB05039)|Indomethacin(DB00328)|Irinotecan(DB00762)|Losartan(DB00678)|Lovastatin(DB00227)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naltrexone(DB00704)|Naproxen(DB00788)|Nilotinib(DB04868)|Pazopanib(DB06589)|Propofol(DB00818)|Raltegravir(DB06817)|Regorafenib(DB08896)|Rifampicin(DB01045)|Simvastatin(DB00641)|Sorafenib(DB00398)|Suprofen(DB00870)|Testosterone Propionate(DB01420)	TTTTAACTTATTTTTTTCGCA	0.373																																						ENST00000373450.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)	30						c.(358-360)ttfs									112.0	120.0	118.0					2																	234526711		2203	4300	6503	SO:0001589	frameshift_variant	0							g.chr2:234526711delT	M57899	CCDS2510.1	2q37.1	2014-09-17	2005-07-20		ENSG00000242366	ENSG00000242366	2.4.1.17	"""UDP glucuronosyltransferases"""	12530	other	complex locus constituent		191740	"""UDP glycosyltransferase 1 family, polypeptide A1"""	UGT1, GNT1		9295054, 9535849	Standard	NM_000463		Approved	UGT1A		P22309	OTTHUMG00000059117	ENST00000373450.4:c.358delT	2.37:g.234526711delT	ENSP00000362549:p.Phe121fs						p.F121fs	NM_019076.4	NP_061949.3				Epithelial(121;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008)	1	421	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)						A6NJC3|B8K286	Frame_Shift_Del	DEL	ENST00000373450.4	37	c.358delT	CCDS33402.1																																																																																				0.373	UGT1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130994.1			7	1015						7	1015	---	---	---	---
UGT1A10	54575	broad.mit.edu	37	2	234545526	234545526	+	Frame_Shift_Del	DEL	T	T	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:234545526delT	ENST00000344644.5	+	1	427	c.358delT	c.(358-360)tttfs	p.F121fs	UGT1A10_ENST00000373445.1_Frame_Shift_Del_p.F121fs|UGT1A1_ENST00000373450.4_Intron	NM_019075.2	NP_061948.1	Q9HAW8	UD110_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A10	121					cellular glucuronidation (GO:0052695)|flavone metabolic process (GO:0051552)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)	Acetaminophen(DB00316)|Etodolac(DB00749)|Losartan(DB00678)|Mycophenolate mofetil(DB00688)|Valproic Acid(DB00313)	TCTTGACTTATTTTTTTCGCA	0.373																																						ENST00000344644.5																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32						c.(358-360)ttfs									103.0	111.0	109.0					2																	234545526		2203	4300	6503	SO:0001589	frameshift_variant	0							g.chr2:234545526delT	U39550	CCDS33403.1	2q37	2010-03-05	2005-07-20		ENSG00000242515	ENSG00000242515		"""UDP glucuronosyltransferases"""	12531	other	complex locus constituent		606435	"""UDP glycosyltransferase 1 family, polypeptide A10"""			9295054, 9325166	Standard	NM_019075		Approved	UGT1J		Q9HAW8	OTTHUMG00000059121	ENST00000344644.5:c.358delT	2.37:g.234545526delT	ENSP00000343838:p.Phe121fs					UGT1A10_ENST00000373445.1_Frame_Shift_Del_p.F121fs|UGT1A8_ENST00000373450.4_Intron	p.F121fs	NM_019075.2	NP_061948.1				Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)	1	427	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)						O00474|Q6NT91|Q7Z6H8	Frame_Shift_Del	DEL	ENST00000344644.5	37	c.358delT	CCDS33403.1																																																																																				0.373	UGT1A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130986.1	NM_019075		8	989						8	989	---	---	---	---
GAL3ST2	64090	broad.mit.edu	37	2	242738494	242738496	+	In_Frame_Del	DEL	TCC	TCC	-	rs199680376		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:242738494_242738496delTCC	ENST00000192314.6	+	2	175_177	c.44_46delTCC	c.(43-48)atcctc>atc	p.L20del	AC114730.5_ENST00000437438.1_RNA	NM_022134.2	NP_071417.2	Q9H3Q3	G3ST2_HUMAN	galactose-3-O-sulfotransferase 2	20					biosynthetic process (GO:0009058)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)	p.L16I(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		TTCCGGGTCATCCTCCTCCTCCT	0.631																																						ENST00000192314.6																			1	Substitution - Missense(1)	p.L16I(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14						c.(43-48)atc>a		galactose-3-O-sulfotransferase 2																																				SO:0001651	inframe_deletion	64090				biosynthetic process	Golgi cisterna membrane|integral to membrane	galactosylceramide sulfotransferase activity	g.chr2:242738494_242738496delTCC	AB040610	CCDS33427.1	2q37.2	2014-05-19			ENSG00000154252	ENSG00000154252		"""Sulfotransferases, membrane-bound"""	24869	protein-coding gene	gene with protein product		608237				11029462	Standard	NM_022134		Approved	GP3ST	uc002wcj.1	Q9H3Q3	OTTHUMG00000151473	ENST00000192314.6:c.44_46delTCC	2.37:g.242738503_242738505delTCC	ENSP00000192314:p.Leu20del						p.IL15del	NM_022134.2	NP_071417.2	Q9H3Q3	G3ST2_HUMAN		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)	2	175_177	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	15					Q17RK0|Q57Z52	In_Frame_Del	DEL	ENST00000192314.6	37	c.44_46delTCC	CCDS33427.1																																																																																				0.631	GAL3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322792.1	NM_022134		9	396						9	396	---	---	---	---
ACAA1	30	broad.mit.edu	37	3	38162039	38162040	+	IGR	DEL	GA	GA	-	rs140494598		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:38162039_38162040delGA	ENST00000333167.8	-	0	1785				DLEC1_ENST00000346219.3_Frame_Shift_Del_p.G1602fs|DLEC1_ENST00000452631.2_Frame_Shift_Del_p.G1605fs|ACAA1_ENST00000480865.1_5'Flank|DLEC1_ENST00000308059.6_Frame_Shift_Del_p.G1602fs	NM_001607.3	NP_001598.1	P09110	THIK_HUMAN	acetyl-CoA acyltransferase 1						alpha-linolenic acid metabolic process (GO:0036109)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acetyl-CoA C-acyltransferase activity (GO:0003988)|palmitoyl-CoA oxidase activity (GO:0016401)			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		AGTGCGAGTGGAGAGAGAGAGA	0.579																																						ENST00000308059.6																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51						c.(4804-4806)gfs		deleted in lung and esophageal cancer 1																																				SO:0001628	intergenic_variant	9940				negative regulation of cell proliferation	cytoplasm		g.chr3:38162039_38162040delGA	X14813	CCDS2673.1, CCDS46794.1	3p22.2	2012-05-16	2010-04-30		ENSG00000060971	ENSG00000060971	2.3.1.16		82	protein-coding gene	gene with protein product	"""peroxisomal 3-oxoacyl-Coenzyme A thiolase"""	604054	"""acetyl-Coenzyme A acyltransferase 1"""				Standard	NM_001607		Approved		uc003cht.3	P09110	OTTHUMG00000131087		3.37:g.38162049_38162050delGA						DLEC1_ENST00000346219.3_Frame_Shift_Del_p.G1602fs|DLEC1_ENST00000452631.2_Frame_Shift_Del_p.G1605fs	p.G1602fs			Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	34	4826_4827	+			1602					G5E935|Q96CA6	Frame_Shift_Del	DEL	ENST00000333167.8	37	c.4805_4806delGA	CCDS2673.1																																																																																				0.579	ACAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342980.1	NM_001607		7	340						7	340	---	---	---	---
NKTR	4820	broad.mit.edu	37	3	42679486	42679486	+	Frame_Shift_Del	DEL	A	A	-	rs150528581	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:42679486delA	ENST00000232978.8	+	13	2478	c.2290delA	c.(2290-2292)aaafs	p.K765fs	RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	765	Arg/Ser-rich.				protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		ATCCAGTGGGAAAAAAAATAG	0.378																																						ENST00000232978.8																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41						c.(2290-2292)aafs		natural killer-tumor recognition sequence							86.0	86.0	86.0					3																	42679486		2203	4300	6503	SO:0001589	frameshift_variant	4820				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr3:42679486delA		CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"""NK-tumor recognition protein"", ""natural-killer cells cyclophilin-related protein"", ""NK-TR protein"""	161565	"""natural killer-tumor recognition sequence"""			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.2290delA	3.37:g.42679486delA	ENSP00000232978:p.Lys765fs					RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	p.K765fs	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.24)	13	2478	+			765			Arg/Ser-rich.			Frame_Shift_Del	DEL	ENST00000232978.8	37	c.2290delA	CCDS2702.1																																																																																				0.378	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2	NM_005385		8	441						8	441	---	---	---	---
QRICH1	54870	broad.mit.edu	37	3	49094314	49094316	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:49094314_49094316delTGC	ENST00000395443.2	-	3	1789_1791	c.1317_1319delGCA	c.(1315-1320)cagcaa>caa	p.439_440QQ>Q	QRICH1_ENST00000424300.1_In_Frame_Del_p.439_440QQ>Q|QRICH1_ENST00000357496.2_In_Frame_Del_p.439_440QQ>Q|QRICH1_ENST00000479449.1_5'UTR	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	439	Gln-rich.					nucleus (GO:0005634)				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		AACTTGGAgttgctgctgctgct	0.562																																						ENST00000395443.2																			0				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25						c.(1315-1320)caa>ca		glutamine-rich 1																																				SO:0001651	inframe_deletion	54870							g.chr3:49094314_49094316delTGC		CCDS2787.1	3p21.31	2011-06-03			ENSG00000198218	ENSG00000198218			24713	protein-coding gene	gene with protein product						12477932	Standard	NM_017730		Approved	FLJ20259	uc003cvv.3	Q2TAL8	OTTHUMG00000156772	ENST00000395443.2:c.1317_1319delGCA	3.37:g.49094323_49094325delTGC	ENSP00000378830:p.Gln440del					QRICH1_ENST00000424300.1_In_Frame_Del_p.QQ439del|QRICH1_ENST00000479449.1_5'UTR|QRICH1_ENST00000357496.2_In_Frame_Del_p.QQ439del	p.QQ439del	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	3	1789_1791	-			439			Gln-rich.		Q4G0F7|Q7L621|Q8TEA5	In_Frame_Del	DEL	ENST00000395443.2	37	c.1317_1319delGCA	CCDS2787.1																																																																																				0.562	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345669.1	NM_017730		7	329						7	329	---	---	---	---
IL17RB	55540	broad.mit.edu	37	3	53889347	53889347	+	Frame_Shift_Del	DEL	A	A	-	rs527321039		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:53889347delA	ENST00000288167.3	+	6	517	c.508delA	c.(508-510)aaafs	p.K172fs		NM_018725.3	NP_061195.2	Q9NRM6	I17RB_HUMAN	interleukin 17 receptor B	172					cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|regulation of cell growth (GO:0001558)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	cytokine receptor activity (GO:0004896)			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)		AATGAAATATAAAAAAAAGTG	0.383																																						ENST00000288167.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13						c.(508-510)aafs		interleukin 17 receptor B							42.0	43.0	42.0					3																	53889347		2203	4300	6503	SO:0001589	frameshift_variant	55540				defense response|regulation of cell growth	extracellular region|integral to plasma membrane	cytokine receptor activity	g.chr3:53889347delA	AF212365	CCDS2874.1	3p21.1	2008-02-05		2003-07-09	ENSG00000056736	ENSG00000056736		"""Interleukins and interleukin receptors"""	18015	protein-coding gene	gene with protein product		605458	"""interleukin 17B receptor"""	IL17BR		10749887, 10815801	Standard	NM_018725		Approved	IL17RH1, EVI27, CRL4	uc003dha.3	Q9NRM6	OTTHUMG00000158280	ENST00000288167.3:c.508delA	3.37:g.53889347delA	ENSP00000288167:p.Lys172fs						p.K172fs	NM_018725.3	NP_061195.2	Q9NRM6	I17RB_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	6	517	+			172					Q9BPZ0|Q9NRL4|Q9NRM5	Frame_Shift_Del	DEL	ENST00000288167.3	37	c.508delA	CCDS2874.1																																																																																				0.383	IL17RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350563.1	NM_172234		9	1156						9	1156	---	---	---	---
ATP6V1A	523	broad.mit.edu	37	3	113505224	113505224	+	Frame_Shift_Del	DEL	T	T	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:113505224delT	ENST00000273398.3	+	6	818	c.710delT	c.(709-711)cttfs	p.L237fs	ATP6V1A_ENST00000538620.1_Frame_Shift_Del_p.L204fs	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	237					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	ATP binding (GO:0005524)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Alendronate(DB00630)|Etidronic acid(DB01077)|Tiludronate(DB01133)	CTTGATGCCCTTTTTCCGTAA	0.423																																						ENST00000273398.3																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(709-711)ctfs		ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A							219.0	201.0	207.0					3																	113505224		2203	4300	6503	SO:0001589	frameshift_variant	523				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr3:113505224delT	L09235	CCDS2976.1	3q13.31	2010-04-21	2002-08-29	2003-04-25	ENSG00000114573	ENSG00000114573	3.6.3.14	"""ATPases / V-type"""	851	protein-coding gene	gene with protein product		607027	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), alpha polypeptide, 70kD, isoform 1"""	VPP2, ATP6A1, ATP6V1A1		8463241	Standard	NM_001690		Approved	Vma1, VA68	uc003eao.3	P38606	OTTHUMG00000159295	ENST00000273398.3:c.710delT	3.37:g.113505224delT	ENSP00000273398:p.Leu237fs					ATP6V1A_ENST00000538620.1_Frame_Shift_Del_p.L204fs	p.L237fs	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN			6	818	+			237					B2RBR8|B7Z1R5|D3DN75|Q53YD9|Q96DY6|Q9UHY3	Frame_Shift_Del	DEL	ENST00000273398.3	37	c.710delT	CCDS2976.1																																																																																				0.423	ATP6V1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354457.1	NM_001690		7	1019						7	1019	---	---	---	---
EAF2	55840	broad.mit.edu	37	3	121573658	121573659	+	Frame_Shift_Ins	INS	-	-	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:121573658_121573659insA	ENST00000273668.2	+	3	397_398	c.326_327insA	c.(325-330)gtaaaafs	p.VK109fs	EAF2_ENST00000451944.2_Frame_Shift_Ins_p.VK109fs	NM_018456.4	NP_060926.2	Q96CJ1	EAF2_HUMAN	ELL associated factor 2	109					apoptotic process (GO:0006915)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	ELL-EAF complex (GO:0032783)|transcription elongation factor complex (GO:0008023)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)	9				GBM - Glioblastoma multiforme(114;0.0972)		AACATCACTGTAAAAAAAACAA	0.248																																					Esophageal Squamous(194;1942 2097 24663 29345 31866)	ENST00000273668.2																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)	9						c.(325-327)gaafs		ELL associated factor 2																																				SO:0001589	frameshift_variant	55840				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein binding	g.chr3:121573658_121573659insA	AF517829	CCDS3006.1	3q21.1	2007-08-01			ENSG00000145088	ENSG00000145088			23115	protein-coding gene	gene with protein product		607659				12446457, 12907652	Standard	NM_018456		Approved	BM040, TRAITS, U19	uc003een.3	Q96CJ1	OTTHUMG00000159424	ENST00000273668.2:c.334dupA	3.37:g.121573666_121573666dupA	ENSP00000273668:p.Val109fs					EAF2_ENST00000451944.2_Frame_Shift_Ins_p.E109fs	p.E109fs	NM_018456.4	NP_060926.2	Q96CJ1	EAF2_HUMAN		GBM - Glioblastoma multiforme(114;0.0972)	3	397_398	+			109					Q9NZ82	Frame_Shift_Ins	INS	ENST00000273668.2	37	c.326_327insA	CCDS3006.1																																																																																				0.248	EAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355247.1	NM_018456		7	819						7	819	---	---	---	---
YEATS2	55689	broad.mit.edu	37	3	183493803	183493805	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:183493803_183493805delAGG	ENST00000305135.5	+	18	2664_2666	c.2469_2471delAGG	c.(2467-2472)acagga>aca	p.G828del		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	828	Gly-rich.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			gcggcagcacaggaggaggagga	0.601																																						ENST00000305135.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49						c.(2467-2472)aca>ac		YEATS domain containing 2				11,3931		1,9,1961						1.8	0.0			64	13,8041		0,13,4014	no	coding	YEATS2	NM_018023.4		1,22,5975	A1A1,A1R,RR		0.1614,0.279,0.2001				24,11972				SO:0001651	inframe_deletion	55689				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding	g.chr3:183493803_183493805delAGG	AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.2469_2471delAGG	3.37:g.183493812_183493814delAGG	ENSP00000306983:p.Gly828del						p.TG823del	NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		18	2664_2666	+	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		823			Gly-rich.		A7E2B9|D3DNS9|Q641P6|Q9NW96	In_Frame_Del	DEL	ENST00000305135.5	37	c.2469_2471delAGG	CCDS43175.1																																																																																				0.601	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2	NM_018023		7	278						7	278	---	---	---	---
TMEM41A	90407	broad.mit.edu	37	3	185212517	185212518	+	Frame_Shift_Ins	INS	-	-	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:185212517_185212518insA	ENST00000421852.1	-	4	562_563	c.467_468insT	c.(466-468)ttcfs	p.F156fs	TMEM41A_ENST00000475480.1_5'UTR|TMEM41A_ENST00000296254.3_Intron	NM_080652.3	NP_542383.1	Q96HV5	TM41A_HUMAN	transmembrane protein 41A	156						integral component of membrane (GO:0016021)				large_intestine(1)|lung(2)|skin(1)	4	all_cancers(143;7.78e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			AAAACAATAAGAAAAAAAACAA	0.446																																						ENST00000421852.1																			0				large_intestine(1)|lung(2)|skin(1)	4						c.(466-468)tttfs		transmembrane protein 41A				0,4266		0,0,2133						1.0	0.8			116	1,8253		0,1,4126	no	frameshift	TMEM41A	NM_080652.3		0,1,6259	A1A1,A1R,RR		0.0121,0.0,0.0080				1,12519				SO:0001589	frameshift_variant	90407					integral to membrane		g.chr3:185212517_185212518insA	BC019884	CCDS3271.1	3q27.2	2006-04-12			ENSG00000163900	ENSG00000163900			30544	protein-coding gene	gene with protein product						12975309	Standard	NM_080652		Approved	MGC15397	uc003fpj.2	Q96HV5	OTTHUMG00000156660	ENST00000421852.1:c.468dupT	3.37:g.185212525_185212525dupA	ENSP00000406885:p.Phe156fs					TMEM41A_ENST00000296254.3_Intron|TMEM41A_ENST00000475480.1_5'UTR	p.F156fs	NM_080652.3	NP_542383.1	Q96HV5	TM41A_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)		4	562_563	-	all_cancers(143;7.78e-11)|Ovarian(172;0.0339)		156					A8K4B3|D3DNU2|Q6ZMJ0	Frame_Shift_Ins	INS	ENST00000421852.1	37	c.467_468insT	CCDS3271.1																																																																																				0.446	TMEM41A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345174.1	NM_080652		7	879						7	879	---	---	---	---
ATP13A3	79572	broad.mit.edu	37	3	194181471	194181473	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:194181471_194181473delGAG	ENST00000439040.1	-	4	930_932	c.139_141delCTC	c.(139-141)ctcdel	p.L47del	ATP13A3_ENST00000256031.4_In_Frame_Del_p.L47del			Q9H7F0	AT133_HUMAN	ATPase type 13A3	47						integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		GCATCCAATAGAGGAGGAGGAGG	0.463																																						ENST00000439040.1																			0				NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(139-141)del		ATPase type 13A3																																				SO:0001651	inframe_deletion	79572				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:194181471_194181473delGAG	AJ306929	CCDS43187.1	3q29	2010-04-20			ENSG00000133657	ENSG00000133657		"""ATPases / P-type"""	24113	protein-coding gene	gene with protein product	"""ATPase family homolog up regulated in senescence cells"""	610232				11867234	Standard	NM_024524		Approved	AFURS1	uc003fty.4	Q9H7F0	OTTHUMG00000156034	ENST00000439040.1:c.139_141delCTC	3.37:g.194181480_194181482delGAG	ENSP00000416508:p.Leu47del					ATP13A3_ENST00000256031.4_In_Frame_Del_p.L47del	p.L47del			Q9H7F0	AT133_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)	4	930_932	-	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	47					Q8NC11|Q96KS1	In_Frame_Del	DEL	ENST00000439040.1	37	c.139_141delCTC	CCDS43187.1																																																																																				0.463	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342799.2	NM_024524		7	635						7	635	---	---	---	---
LINC00969	440993	broad.mit.edu	37	3	195412724	195412725	+	lincRNA	DEL	TT	TT	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:195412724_195412725delTT	ENST00000445430.1	+	0	3921_3922									long intergenic non-protein coding RNA 969																		TTGACAAAACTTTGAACGAGGC	0.401																																						ENST00000445430.1																			0																																																			0							g.chr3:195412724_195412725delTT	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195412724_195412725delTT														0	3921_3922	+									RNA	DEL	ENST00000445430.1	37																																																																																						0.401	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			10	266						10	266	---	---	---	---
C4orf22	255119	broad.mit.edu	37	4	81791254	81791254	+	Frame_Shift_Del	DEL	A	A	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr4:81791254delA	ENST00000358105.3	+	4	490	c.441delA	c.(439-441)ggafs	p.G147fs	C4orf22_ENST00000508675.1_Frame_Shift_Del_p.G164fs	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN	chromosome 4 open reading frame 22	147										NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						ACTTTACTGGAAAAAAAAGAC	0.373																																						ENST00000358105.3																			0				NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						c.(439-441)ggfs		chromosome 4 open reading frame 22																																				SO:0001589	frameshift_variant	255119							g.chr4:81791254delA	BC034296	CCDS3587.1, CCDS56336.1	4q21.21	2008-02-05			ENSG00000197826	ENSG00000197826			28554	protein-coding gene	gene with protein product						12477932	Standard	NM_152770		Approved		uc010ijp.3	Q6V702	OTTHUMG00000130289	ENST00000358105.3:c.441delA	4.37:g.81791254delA	ENSP00000350818:p.Gly147fs					C4orf22_ENST00000508675.1_Frame_Shift_Del_p.G164fs	p.G147fs	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN			4	490	+			147					E7EQ13|Q6ZQY4|Q8N4G9	Frame_Shift_Del	DEL	ENST00000358105.3	37	c.441delA	CCDS3587.1																																																																																				0.373	C4orf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252629.2	NM_152770		7	796						7	796	---	---	---	---
WDFY3	23001	broad.mit.edu	37	4	85741302	85741302	+	Frame_Shift_Del	DEL	T	T	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr4:85741302delT	ENST00000295888.4	-	12	2036	c.1629delA	c.(1627-1629)aaafs	p.K543fs	WDFY3_ENST00000322366.6_Frame_Shift_Del_p.K543fs	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	543					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AAGCCAGGTGTTTTTGGTCTT	0.353																																						ENST00000322366.6																			0				breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(1627-1629)aafs		WD repeat and FYVE domain containing 3							182.0	195.0	190.0					4																	85741302		2203	4300	6503	SO:0001589	frameshift_variant	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85741302delT	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.1629delA	4.37:g.85741302delT	ENSP00000295888:p.Lys543fs					WDFY3_ENST00000295888.4_Frame_Shift_Del_p.K543fs	p.K543fs			Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	12	2036	-		Hepatocellular(203;0.114)	543					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Frame_Shift_Del	DEL	ENST00000295888.4	37	c.1629delA	CCDS3609.1																																																																																				0.353	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		8	1693						8	1693	---	---	---	---
EXOSC9	5393	broad.mit.edu	37	4	122723894	122723894	+	Frame_Shift_Del	DEL	T	T	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr4:122723894delT	ENST00000243498.5	+	3	335	c.227delT	c.(226-228)cttfs	p.L76fs	EXOSC9_ENST00000512454.1_Frame_Shift_Del_p.L60fs|EXOSC9_ENST00000379663.3_Frame_Shift_Del_p.L76fs|EXOSC9_ENST00000509980.1_3'UTR	NM_005033.2	NP_005024.2	Q06265	EXOS9_HUMAN	exosome component 9	76	ARE binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|immune response (GO:0006955)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of cell growth (GO:0030307)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|intermediate filament cytoskeleton (GO:0045111)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|AU-rich element binding (GO:0017091)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						GAAGGTATTCTTTTTTTTAAC	0.383																																						ENST00000512454.1																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						c.(178-180)ctfs		exosome component 9							95.0	99.0	98.0					4																	122723894		2203	4300	6503	SO:0001589	frameshift_variant	5393				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|immune response|nuclear mRNA surveillance|nuclear polyadenylation-dependent rRNA catabolic process|positive regulation of cell growth|rRNA processing	cytosol|nuclear exosome (RNase complex)|nucleolus|nucleus	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding	g.chr4:122723894delT	M58460	CCDS3722.2, CCDS34057.1	4q27	2010-05-07	2004-06-16	2004-06-18	ENSG00000123737	ENSG00000123737	3.1.13.-		9137	protein-coding gene	gene with protein product	"""polymyositis/scleroderma autoantigen 1 (75kD)"""	606180	"""polymyositis/scleroderma autoantigen 1, 75kDa"""	PMSCL1			Standard	XR_427545		Approved	PM/Scl-75, Rrp45p, RRP45, p5, p6	uc003idz.3	Q06265	OTTHUMG00000128783	ENST00000243498.5:c.227delT	4.37:g.122723894delT	ENSP00000243498:p.Leu76fs					EXOSC9_ENST00000243498.5_Frame_Shift_Del_p.L76fs|EXOSC9_ENST00000379663.3_Frame_Shift_Del_p.L76fs|EXOSC9_ENST00000509980.1_3'UTR	p.L60fs			Q06265	EXOS9_HUMAN			2	395	+			76			ARE binding.		Q12883|Q4W5P5|Q86Y41|Q86Y48	Frame_Shift_Del	DEL	ENST00000243498.5	37	c.179delT	CCDS3722.2																																																																																				0.383	EXOSC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250708.2	NM_005033		8	719						8	719	---	---	---	---
INTU	27152	broad.mit.edu	37	4	128564917	128564917	+	Frame_Shift_Del	DEL	A	A	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr4:128564917delA	ENST00000335251.6	+	2	491	c.388delA	c.(388-390)aaafs	p.K131fs	INTU_ENST00000296461.5_Frame_Shift_Del_p.K131fs	NM_015693.3	NP_056508.2	Q9ULD6	INTU_HUMAN	inturned planar cell polarity protein	131					cilium assembly (GO:0042384)|hair follicle morphogenesis (GO:0031069)|keratinocyte differentiation (GO:0030216)|limb development (GO:0060173)|negative regulation of cell division (GO:0051782)|negative regulation of keratinocyte proliferation (GO:0010839)|nervous system development (GO:0007399)|positive regulation of smoothened signaling pathway (GO:0045880)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						GCGCTGCAATAAAAAAAATAG	0.358																																						ENST00000335251.5																			0				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						c.(388-390)aafs		inturned planar cell polarity protein							63.0	66.0	65.0					4																	128564917		2203	4300	6503	SO:0001589	frameshift_variant	27152							g.chr4:128564917delA	BC051698	CCDS34061.1	4q28.2	2013-03-05	2013-03-05	2006-10-24	ENSG00000164066	ENSG00000164066			29239	protein-coding gene	gene with protein product		610621	"""PDZ domain containing 6"", ""inturned planar cell polarity effector homolog (Drosophila)"""	PDZK6, PDZD6		10574462, 21761479	Standard	NM_015693		Approved	KIAA1284	uc003ifk.2	Q9ULD6	OTTHUMG00000161202	ENST00000335251.6:c.388delA	4.37:g.128564917delA	ENSP00000334003:p.Lys131fs					INTU_ENST00000296461.5_Frame_Shift_Del_p.K131fs	p.K131fs	NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN			2	491	+			131					A1L4N5|D6RAE6|D6RBT4|Q4W5I8|Q86V55	Frame_Shift_Del	DEL	ENST00000335251.6	37	c.388delA	CCDS34061.1																																																																																				0.358	INTU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364147.2	XM_371707		8	513						8	513	---	---	---	---
CLGN	1047	broad.mit.edu	37	4	141313402	141313402	+	Frame_Shift_Del	DEL	T	T	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr4:141313402delT	ENST00000325617.5	-	13	2062	c.1622delA	c.(1621-1623)aagfs	p.K541fs	CLGN_ENST00000537281.1_Frame_Shift_Del_p.K541fs|CLGN_ENST00000414773.1_Frame_Shift_Del_p.K541fs	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	541					binding of sperm to zona pellucida (GO:0007339)|protein complex assembly (GO:0006461)|protein folding (GO:0006457)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	calcium ion binding (GO:0005509)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					ATCATTTTGCTTTTTTTCCTC	0.378																																						ENST00000325617.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25						c.(1621-1623)agfs		calmegin							244.0	247.0	246.0					4																	141313402		2203	4300	6503	SO:0001589	frameshift_variant	1047				protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding	g.chr4:141313402delT	D86322	CCDS3751.1	4q28.3-q31.1	2008-02-05			ENSG00000153132	ENSG00000153132			2060	protein-coding gene	gene with protein product		601858					Standard	NM_004362		Approved		uc003iii.3	O14967	OTTHUMG00000133414	ENST00000325617.5:c.1622delA	4.37:g.141313402delT	ENSP00000326699:p.Lys541fs					CLGN_ENST00000537281.1_Frame_Shift_Del_p.K541fs|CLGN_ENST00000414773.1_Frame_Shift_Del_p.K541fs	p.K541fs	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN			13	2062	-	all_hematologic(180;0.162)		541					B3KS90|B4DXV8|D3DNY8	Frame_Shift_Del	DEL	ENST00000325617.5	37	c.1622delA	CCDS3751.1																																																																																				0.378	CLGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257272.2	NM_004362		8	1293						8	1293	---	---	---	---
TENM3	55714	broad.mit.edu	37	4	183609359	183609359	+	Frame_Shift_Del	DEL	G	G	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr4:183609359delG	ENST00000511685.1	+	12	2199	c.2076delG	c.(2074-2076)atgfs	p.M692fs	TENM3_ENST00000406950.2_Frame_Shift_Del_p.M692fs|TENM3_ENST00000502950.1_3'UTR			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	692	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)										GCGTTTGCATGGGGGGGACGT	0.592																																						ENST00000511685.1																			0											c.(2074-2076)atfs		teneurin transmembrane protein 3							109.0	116.0	113.0					4																	183609359		1969	4158	6127	SO:0001589	frameshift_variant	55714							g.chr4:183609359delG	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.2076delG	4.37:g.183609359delG	ENSP00000424226:p.Met692fs					TENM3_ENST00000406950.2_Frame_Shift_Del_p.M692fs|TENM3_ENST00000502950.1_3'UTR	p.M692fs							12	2199	+								Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Frame_Shift_Del	DEL	ENST00000511685.1	37	c.2076delG	CCDS47165.1																																																																																				0.592	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			11	1203						11	1203	---	---	---	---
IRX4	50805	broad.mit.edu	37	5	1879669	1879671	+	In_Frame_Del	DEL	CCT	CCT	-	rs561786759|rs369060686|rs200684951		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr5:1879669_1879671delCCT	ENST00000505790.1	-	5	1139_1141	c.683_685delAGG	c.(682-687)gagggg>ggg	p.E228del	IRX4_ENST00000513692.1_In_Frame_Del_p.E228del|IRX4_ENST00000505938.1_5'UTR|IRX4_ENST00000231357.2_In_Frame_Del_p.E228del	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	228	Poly-Glu.				establishment of organ orientation (GO:0048561)|heart development (GO:0007507)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		tcctcgcccccctcctcctcctc	0.685																																						ENST00000505790.1																			0				endometrium(1)|lung(7)|ovary(1)|prostate(1)	10						c.(682-687)ggg>g		iroquois homeobox 4																																				SO:0001651	inframe_deletion	50805				heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:1879669_1879671delCCT	AF124733	CCDS3867.1, CCDS75225.1	5p15.33	2011-06-20	2007-07-13		ENSG00000113430	ENSG00000113430		"""Homeoboxes / TALE class"""	6129	protein-coding gene	gene with protein product		606199	"""iroquois homeobox protein 4"""			10625552	Standard	NM_016358		Approved		uc003jcz.2	P78413	OTTHUMG00000090411	ENST00000505790.1:c.683_685delAGG	5.37:g.1879678_1879680delCCT	ENSP00000423161:p.Glu228del					IRX4_ENST00000231357.2_In_Frame_Del_p.EG228del|IRX4_ENST00000513692.1_In_Frame_Del_p.EG228del|IRX4_ENST00000505938.1_5'UTR	p.EG228del	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN		GBM - Glioblastoma multiforme(108;0.242)	5	1139_1141	-			228			Poly-Glu.		B2RMW5|D3DTC5|H1AFL0|H1AFL1|Q2NL64|Q9UHR2	In_Frame_Del	DEL	ENST00000505790.1	37	c.683_685delAGG	CCDS3867.1																																																																																				0.685	IRX4-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365500.1	NM_016358		7	179						7	179	---	---	---	---
DNAH5	1767	broad.mit.edu	37	5	13919383	13919383	+	Frame_Shift_Del	DEL	T	T	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr5:13919383delT	ENST00000265104.4	-	7	981	c.877delA	c.(877-879)agafs	p.R293fs		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	293	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTGGAGAGTCTTTTTTTCCAG	0.517									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(877-879)gafs		dynein, axonemal, heavy chain 5							145.0	157.0	153.0					5																	13919383		2203	4300	6503	SO:0001589	frameshift_variant	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13919383delT	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.877delA	5.37:g.13919383delT	ENSP00000265104:p.Arg293fs						p.R293fs	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			7	981	-	Lung NSC(4;0.00476)		293			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Frame_Shift_Del	DEL	ENST00000265104.4	37	c.877delA	CCDS3882.1																																																																																				0.517	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		8	1068						8	1068	---	---	---	---
ZFR	51663	broad.mit.edu	37	5	32407015	32407017	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr5:32407015_32407017delGCA	ENST00000265069.8	-	6	996_998	c.894_896delTGC	c.(892-897)gctgca>gca	p.298_299AA>A		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	298	Ala-rich.				multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		GGCAgctgttgcagcagcagcag	0.478																																						ENST00000265069.8																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32						c.(892-897)gca>gc		zinc finger RNA binding protein																																				SO:0001651	inframe_deletion	51663				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding	g.chr5:32407015_32407017delGCA	AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.894_896delTGC	5.37:g.32407024_32407026delGCA	ENSP00000265069:p.Ala299del						p.AA298del	NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN		STAD - Stomach adenocarcinoma(35;0.19)	6	996_998	-			298			Ala-rich.		B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	In_Frame_Del	DEL	ENST00000265069.8	37	c.894_896delTGC	CCDS34139.1																																																																																				0.478	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366586.1			7	286						7	286	---	---	---	---
NPR3	4883	broad.mit.edu	37	5	32789822	32789823	+	3'UTR	DEL	GT	GT	-	rs370388563		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr5:32789822_32789823delGT	ENST00000265074.8	+	0	5340_5341				AC026703.1_ENST00000326958.1_Frame_Shift_Del_p.C106fs	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3						adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	CTGATTTTGGGTGTGTGTGTGT	0.421																																						ENST00000326958.1																			0											c.(313-318)gggtfs																																						SO:0001624	3_prime_UTR_variant	0							g.chr5:32789822_32789823delGT		CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"""guanylate cyclase C"""	108962	"""chromosome 5 open reading frame 23"", ""atrionatriuretic peptide receptor C"", ""natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)"", ""natriuretic peptide receptor C"""	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.*3372GT>-	5.37:g.32789832_32789833delGT						NPR3_ENST00000265074.8_3'UTR	p.GC105fs							1	878_879	+								A2RRD1|B4DT84|E7EPG9	Frame_Shift_Del	DEL	ENST00000265074.8	37	c.315_316delGT	CCDS56357.1																																																																																				0.421	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317550.3	NM_000908		7	581						7	581	---	---	---	---
FGF10	2255	broad.mit.edu	37	5	44388715	44388717	+	In_Frame_Del	DEL	AGC	AGC	-	rs576181814		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr5:44388715_44388717delAGC	ENST00000264664.4	-	1	182_184	c.68_70delGCT	c.(67-72)tgcttt>ttt	p.C23del	RP11-473L15.2_ENST00000502457.1_RNA	NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN	fibroblast growth factor 10	23					actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching morphogenesis of an epithelial tube (GO:0048754)|bronchiole morphogenesis (GO:0060436)|bud elongation involved in lung branching (GO:0060449)|bud outgrowth involved in lung branching (GO:0060447)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell migration (GO:0010631)|epithelial cell proliferation (GO:0050673)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|ERK1 and ERK2 cascade (GO:0070371)|establishment of mitotic spindle orientation (GO:0000132)|Fc-epsilon receptor signaling pathway (GO:0038095)|female genitalia morphogenesis (GO:0048807)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|hair follicle morphogenesis (GO:0031069)|Harderian gland development (GO:0070384)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|keratinocyte proliferation (GO:0043616)|lacrimal gland development (GO:0032808)|limb bud formation (GO:0060174)|lung epithelium development (GO:0060428)|lung proximal/distal axis specification (GO:0061115)|lung saccule development (GO:0060430)|male genitalia morphogenesis (GO:0048808)|mammary gland bud formation (GO:0060615)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal-epithelial cell signaling involved in lung development (GO:0060496)|mesonephros development (GO:0001823)|metanephros development (GO:0001656)|metanephros morphogenesis (GO:0003338)|muscle cell fate commitment (GO:0042693)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|organ induction (GO:0001759)|otic vesicle formation (GO:0030916)|pancreas development (GO:0031016)|phosphatidylinositol-mediated signaling (GO:0048015)|pituitary gland development (GO:0021983)|positive chemotaxis (GO:0050918)|positive regulation of ATPase activity (GO:0032781)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of hair follicle cell proliferation (GO:0071338)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urothelial cell proliferation (GO:0050677)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of white fat cell proliferation (GO:0070352)|prostatic bud formation (GO:0060513)|protein localization to cell surface (GO:0034394)|radial glial cell differentiation (GO:0060019)|regulation of activin receptor signaling pathway (GO:0032925)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of saliva secretion (GO:0046877)|regulation of smoothened signaling pathway (GO:0008589)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|salivary gland development (GO:0007431)|secretion by lung epithelial cell involved in lung growth (GO:0061033)|semicircular canal fusion (GO:0060879)|smooth muscle cell differentiation (GO:0051145)|somatic stem cell maintenance (GO:0035019)|spleen development (GO:0048536)|submandibular salivary gland formation (GO:0060661)|tear secretion (GO:0070075)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|tissue regeneration (GO:0042246)|Type II pneumocyte differentiation (GO:0060510)|urothelial cell proliferation (GO:0050674)|white fat cell differentiation (GO:0050872)|wound healing (GO:0042060)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chemoattractant activity (GO:0042056)|fibroblast growth factor receptor binding (GO:0005104)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|type 2 fibroblast growth factor receptor binding (GO:0005111)			haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					AGCAACAAAAAGCAGCAGCAGCA	0.537																																						ENST00000264664.4																			0				haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13						c.(67-72)ttt>t		fibroblast growth factor 10																																				SO:0001651	inframe_deletion	2255				actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding	g.chr5:44388715_44388717delAGC		CCDS3950.1	5p13-p12	2008-02-05			ENSG00000070193	ENSG00000070193			3666	protein-coding gene	gene with protein product		602115				9287324	Standard	NM_004465		Approved		uc003jog.1	O15520	OTTHUMG00000131153	ENST00000264664.4:c.68_70delGCT	5.37:g.44388724_44388726delAGC	ENSP00000264664:p.Cys23del						p.CF23del	NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN			1	182_184	-	Lung NSC(6;1.12e-06)		23					C7FDY0|Q6FHR3|Q6FHT6|Q96P59	In_Frame_Del	DEL	ENST00000264664.4	37	c.68_70delGCT	CCDS3950.1																																																																																				0.537	FGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253845.2	NM_004465		8	249						8	249	---	---	---	---
TAF9	6880	broad.mit.edu	37	5	68660786	68660788	+	In_Frame_Del	DEL	TCA	TCA	-	rs138635374		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr5:68660786_68660788delTCA	ENST00000328663.4	-	3	1243_1245	c.777_779delTGA	c.(775-780)gatgac>gac	p.259_260DD>D	TAF9_ENST00000512561.1_Intron|TAF9_ENST00000380822.4_Intron|TAF9_ENST00000506736.1_In_Frame_Del_p.259_260DD>D|TAF9_ENST00000380818.3_Intron|TAF9_ENST00000502819.1_Intron|TAF9_ENST00000217893.5_In_Frame_Del_p.259_260DD>D	NM_001015892.1	NP_001015892.1	Q16594	TAF9_HUMAN	TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa	259	Poly-Asp.				cellular response to DNA damage stimulus (GO:0006974)|chromatin organization (GO:0006325)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of cell growth (GO:0030307)|positive regulation of response to cytokine stimulus (GO:0060760)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein stabilization (GO:0050821)|response to interleukin-1 (GO:0070555)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|pre-snoRNP complex (GO:0070761)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	activating transcription factor binding (GO:0033613)|C2H2 zinc finger domain binding (GO:0070742)|DNA binding (GO:0003677)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)		attatcatagtcatcatcatcat	0.33																																						ENST00000328663.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8						c.(775-780)gac>ga		TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa			,,,	1,1,4264		0,0,1,0,1,2131					,,,	3.4	1.0		dbSNP_134	103	5,0,8249		0,0,5,0,0,4122	no	intron,codingComplex,codingComplex,intron	TAF9	NM_016283.4,NM_003187.4,NM_001015892.1,NM_001015891.1	,,,	0,0,6,0,1,6253	A1A1,A1A2,A1R,A2A2,A2R,RR		0.0606,0.0469,0.0559	,,,	,,,		6,1,12513				SO:0001651	inframe_deletion	6880					Cajal body	adenylate kinase activity|ATP binding|protein binding	g.chr5:68660786_68660788delTCA	U21858	CCDS4001.1, CCDS4002.1, CCDS43324.1	5q13.2	2013-09-26	2002-08-29	2001-12-07	ENSG00000085231	ENSG00000085231			11542	protein-coding gene	gene with protein product		600822	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, G, 32kD"""	TAF2G		10191103, 15630091, 16079131	Standard	NM_001015892		Approved	TAFII31, TAFII32, TAFIID32, MGC5067, CGI-137, MGC1603, MGC3647, AD-004	uc003jwa.3	Q16594	OTTHUMG00000099359	ENST00000328663.4:c.777_779delTGA	5.37:g.68660795_68660797delTCA	ENSP00000370193:p.Asp260del					TAF9_ENST00000512561.1_Intron|TAF9_ENST00000506736.1_In_Frame_Del_p.DD259del|TAF9_ENST00000502819.1_Intron|TAF9_ENST00000380818.3_Intron|TAF9_ENST00000380822.4_Intron|TAF9_ENST00000217893.5_In_Frame_Del_p.DD259del	p.DD259del	NM_001015892.1	NP_001015892.1	Q9Y3D8	KAD6_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)	3	1243_1245	-		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)	63					D3DWA3|Q5U0D1|Q9BTS1	In_Frame_Del	DEL	ENST00000328663.4	37	c.777_779delTGA	CCDS4002.1																																																																																				0.330	TAF9-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000216803.1	NM_003187		8	804						8	804	---	---	---	---
SLC22A4	6583	broad.mit.edu	37	5	131676327	131676327	+	Frame_Shift_Del	DEL	T	T	-	rs72552721		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr5:131676327delT	ENST00000200652.3	+	9	1688	c.1514delT	c.(1513-1515)cttfs	p.L505fs	AC034220.3_ENST00000417795.1_RNA|AC034220.3_ENST00000437091.1_RNA	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	505					body fluid secretion (GO:0007589)|carnitine metabolic process (GO:0009437)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cation transmembrane transport (GO:0098655)|organic cation transport (GO:0015695)|quaternary ammonium group transport (GO:0015697)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|cation:cation antiporter activity (GO:0015491)|nucleotide binding (GO:0000166)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|secondary active organic cation transmembrane transporter activity (GO:0008513)|symporter activity (GO:0015293)	p.E509fs*1(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Amiloride(DB00594)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Desipramine(DB01151)|Guanidine(DB00536)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|L-Lysine(DB00123)|Levofloxacin(DB01137)|Mepyramine(DB06691)|Nicotine(DB00184)|Ofloxacin(DB01165)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Spermine(DB00127)|Testosterone(DB00624)|Tiotropium(DB01409)|Verapamil(DB00661)	ATCCTCACCCTTTTTTTCCCT	0.418																																						ENST00000200652.3																			1	Insertion - Frameshift(1)	p.E509fs*1(1)	ovary(1)	endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16						c.(1513-1515)ctfs		solute carrier family 22 (organic cation/zwitterion transporter), member 4	L-Carnitine(DB00583)						222.0	206.0	211.0					5																	131676327		2203	4300	6503	SO:0001589	frameshift_variant	6583				body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity	g.chr5:131676327delT	AB007448	CCDS4153.1	5q23.3	2013-07-18	2013-07-18		ENSG00000197208	ENSG00000197208		"""Solute carriers"""	10968	protein-coding gene	gene with protein product		604190	"""solute carrier family 22 (organic cation/ergothioneine transporter), member 4"""			9426230, 15795384	Standard	NM_003059		Approved	OCTN1, MGC34546	uc003kwq.3	Q9H015	OTTHUMG00000059648	ENST00000200652.3:c.1514delT	5.37:g.131676327delT	ENSP00000200652:p.Leu505fs					AC034220.3_ENST00000417795.1_RNA|AC034220.3_ENST00000437091.1_RNA	p.L505fs	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		9	1688	+		all_cancers(142;0.0752)|Breast(839;0.198)	505					O14546	Frame_Shift_Del	DEL	ENST00000200652.3	37	c.1514delT	CCDS4153.1																																																																																				0.418	SLC22A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132661.1	NM_003059		14	1004						14	1004	---	---	---	---
TIGD6	81789	broad.mit.edu	37	5	149375600	149375600	+	Frame_Shift_Del	DEL	T	T	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	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		8	1574						8	1574	---	---	---	---
MANEA	79694	broad.mit.edu	37	6	96034870	96034871	+	Intron	DEL	TA	TA	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr6:96034870_96034871delTA	ENST00000358812.4	+	2	678				MANEA_ENST00000369293.1_Frame_Shift_Del_p.I186fs	NM_024641.3	NP_078917.2	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha						cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)			breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		GTAATTATtgtatatatatata	0.292																																						ENST00000369293.1																			0				breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						c.(553-558)tgtafs		mannosidase, endo-alpha																																				SO:0001627	intron_variant	79694				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity	g.chr6:96034870_96034871delTA	AK022900	CCDS5032.1	6q16.2	2008-02-05			ENSG00000172469	ENSG00000172469			21072	protein-coding gene	gene with protein product		612327					Standard	NM_024641		Approved	FLJ12838, mandaselin	uc003poo.2	Q5SRI9	OTTHUMG00000016296	ENST00000358812.4:c.544+11TA>-	6.37:g.96034880_96034881delTA						MANEA_ENST00000358812.4_Intron	p.CI185fs			Q5SRI9	MANEA_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.148)	2	689_690	+		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)	0			Catalytic (Probable).		A6H8M6|Q5SRJ0|Q6MZV0|Q70JE9|Q7Z3V7|Q8WWX5|Q9H9D2	Frame_Shift_Del	DEL	ENST00000358812.4	37	c.555_556delTA	CCDS5032.1																																																																																				0.292	MANEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043644.1	NM_024641		7	351						7	351	---	---	---	---
PPIL6	285755	broad.mit.edu	37	6	109757309	109757309	+	Frame_Shift_Del	DEL	T	T	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr6:109757309delT	ENST00000521072.2	-	2	809	c.229delA	c.(229-231)aggfs	p.R77fs	PPIL6_ENST00000424445.2_Intron|PPIL6_ENST00000440797.2_Frame_Shift_Del_p.R77fs|AL109947.1_ENST00000459391.1_RNA	NM_173672.4	NP_775943.1	Q8IXY8	PPIL6_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 6	77					protein folding (GO:0006457)		peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259)		TCCTTTACCCTTTTTTTCTCC	0.338																																						ENST00000521072.2																			0				large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(229-231)ggfs		peptidylprolyl isomerase (cyclophilin)-like 6							112.0	120.0	117.0					6																	109757309		2203	4300	6503	SO:0001589	frameshift_variant	285755				protein folding		peptidyl-prolyl cis-trans isomerase activity	g.chr6:109757309delT		CCDS5074.1, CCDS47466.1, CCDS47466.2, CCDS69169.1	6q21	2009-11-18			ENSG00000185250	ENSG00000185250			21557	protein-coding gene	gene with protein product	"""radial spoke 12 homolog (Chlamydomonas)"""						Standard	NM_173672		Approved	bA425D10.6, MGC41939, dJ919F19.1, RSPH12	uc010kdp.3	Q8IXY8	OTTHUMG00000036593	ENST00000521072.2:c.229delA	6.37:g.109757309delT	ENSP00000427929:p.Arg77fs					PPIL6_ENST00000424445.2_Intron|PPIL6_ENST00000440797.2_Frame_Shift_Del_p.R77fs	p.R77fs	NM_173672.4	NP_775943.1	Q8IXY8	PPIL6_HUMAN		Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259)	2	809	-		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)	77					A9NIU0|A9NIU9|E7EX15	Frame_Shift_Del	DEL	ENST00000521072.2	37	c.229delA	CCDS5074.1																																																																																				0.338	PPIL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089003.4			7	1018						7	1018	---	---	---	---
NOX3	50508	broad.mit.edu	37	6	155743925	155743926	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr6:155743925_155743926delCA	ENST00000159060.2	-	10	1312_1313	c.1210_1211delTG	c.(1210-1212)tgcfs	p.C404fs		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	404					detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		CGCGGCAACGCACACACACACT	0.53																																						ENST00000159060.2																			0				cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45						c.(1210-1212)cfs		NADPH oxidase 3																																				SO:0001589	frameshift_variant	50508						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	g.chr6:155743925_155743926delCA	AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.1210_1211delTG	6.37:g.155743933_155743934delCA	ENSP00000159060:p.Cys404fs						p.C404fs	NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)	10	1312_1313	-		Breast(66;0.0183)	404					Q9HBJ9	Frame_Shift_Del	DEL	ENST00000159060.2	37	c.1210_1211delTG	CCDS5250.1																																																																																				0.530	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042819.1			7	580						7	580	---	---	---	---
TRGC2	6967	broad.mit.edu	37	7	38284914	38284917	+	RNA	DEL	CTGA	CTGA	-	rs149178316|rs563966650|rs147429736	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr7:38284914_38284917delCTGA	ENST00000436911.2	-	0	330							P03986	TRGC2_HUMAN	T cell receptor gamma constant 2						immune response (GO:0006955)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)										gtgtgtgtgtctgagtgtgtctgt	0.392														166	0.033147	0.0083	0.0231	5008	,	,		17035	0.0784		0.0358	False		,,,				2504	0.0245					ENST00000436911.2																			0																																																			0							g.chr7:38284914_38284917delCTGA	M15002		7p14	2012-02-07			ENSG00000227191	ENSG00000227191		"""T cell receptors / TRG locus"""	12276	other	T cell receptor gene	"""T-cell receptor, gamma, constant region C2"""	615450		TCRGC2		3458221	Standard	NG_001336		Approved	TRGC2(2X), TRGC2(3X)		P03986	OTTHUMG00000155215		7.37:g.38284914_38284917delCTGA														0	330	-									RNA	DEL	ENST00000436911.2	37																																																																																						0.392	TRGC2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000338821.2	NG_001336		9	224						9	224	---	---	---	---
ZNF733P	643955	broad.mit.edu	37	7	62752415	62752416	+	RNA	INS	-	-	C	rs373405087|rs368825314	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr7:62752415_62752416insC	ENST00000331425.6	-	0	1019_1020					NR_003952.1				zinc finger protein 733, pseudogene																		GCATAGGGTTTTCTCTAGTATG	0.421													|||unknown(LONG_INSERTION)	63	0.0125799	0.0371	0.0	5008	,	,		19012	0.0109		0.003	False		,,,				2504	0.0					ENST00000331425.6																			0																																																			0							g.chr7:62752415_62752416insC			7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62752415_62752416insC								NR_003952.1						0	1019_1020	-									RNA	INS	ENST00000331425.6	37																																																																																						0.421	ZNF733P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000343679.1			8	261						8	261	---	---	---	---
TMEM60	85025	broad.mit.edu	37	7	77423460	77423460	+	Frame_Shift_Del	DEL	T	T	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr7:77423460delT	ENST00000257663.3	-	2	607	c.231delA	c.(229-231)aaafs	p.K77fs		NM_032936.3	NP_116325.1	Q9H2L4	TMM60_HUMAN	transmembrane protein 60	77						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(2)	4						GGTACCAGGCTTTTTTTTTAA	0.408																																						ENST00000257663.3																			0				endometrium(1)|large_intestine(1)|lung(2)	4						c.(229-231)aafs		transmembrane protein 60							142.0	141.0	141.0					7																	77423460		2203	4300	6503	SO:0001589	frameshift_variant	85025					integral to membrane		g.chr7:77423460delT	AF260336	CCDS5593.1	7q11.23	2005-07-25	2005-07-25	2005-07-25	ENSG00000135211	ENSG00000135211			21754	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 35"""	C7orf35			Standard	NM_032936		Approved	DC32	uc003ugn.3	Q9H2L4	OTTHUMG00000130689	ENST00000257663.3:c.231delA	7.37:g.77423460delT	ENSP00000257663:p.Lys77fs						p.K77fs	NM_032936.3	NP_116325.1	Q9H2L4	TMM60_HUMAN			2	607	-			77					A4D1C3|Q86UM0	Frame_Shift_Del	DEL	ENST00000257663.3	37	c.231delA	CCDS5593.1																																																																																				0.408	TMEM60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253185.2	NM_032936		14	649						14	649	---	---	---	---
PCLO	27445	broad.mit.edu	37	7	82595385	82595385	+	Frame_Shift_Del	DEL	T	T	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr7:82595385delT	ENST00000333891.9	-	4	4056	c.3719delA	c.(3718-3720)aagfs	p.K1240fs	PCLO_ENST00000423517.2_Frame_Shift_Del_p.K1240fs	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGGGGTTGGCTTTTTTTCTTC	0.383																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(3718-3720)agfs		piccolo presynaptic cytomatrix protein							241.0	235.0	237.0					7																	82595385		1809	4074	5883	SO:0001589	frameshift_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82595385delT	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.3719delA	7.37:g.82595385delT	ENSP00000334319:p.Lys1240fs					PCLO_ENST00000333891.8_Frame_Shift_Del_p.K1240fs	p.K1240fs	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			4	4056	-			1179						Frame_Shift_Del	DEL	ENST00000333891.9	37	c.3719delA	CCDS47630.1																																																																																				0.383	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		12	1685						12	1685	---	---	---	---
STEAP2	261729	broad.mit.edu	37	7	89856465	89856465	+	Frame_Shift_Del	DEL	T	T	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr7:89856465delT	ENST00000287908.3	+	3	1066	c.673delT	c.(673-675)tttfs	p.F227fs	STEAP2_ENST00000394622.2_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000394626.1_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000402625.2_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000394621.2_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000394632.1_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000394629.2_Frame_Shift_Del_p.F227fs	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	227					copper ion import (GO:0015677)|endocytosis (GO:0006897)|ferric iron import into cell (GO:0097461)|Golgi to plasma membrane transport (GO:0006893)|iron ion homeostasis (GO:0055072)|regulated secretory pathway (GO:0045055)|response to hormone (GO:0009725)	cytosol (GO:0005829)|early endosome (GO:0005769)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					CTTGGCCACATTTTTTTTCCT	0.393																																						ENST00000287908.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						c.(673-675)ttfs		STEAP family member 2, metalloreductase							108.0	103.0	105.0					7																	89856465		2203	4300	6503	SO:0001589	frameshift_variant	261729				electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity	g.chr7:89856465delT	AF455138	CCDS5615.1, CCDS43612.1, CCDS59064.1	7q21.13	2011-09-30	2011-09-30		ENSG00000157214	ENSG00000157214			17885	protein-coding gene	gene with protein product		605094	"""prostate cancer associated protein 1"", ""six transmembrane epithelial antigen of the prostate 2"""	PCANAP1		10613842, 12095985	Standard	NM_001040665		Approved	IPCA-1, STAMP1, STMP	uc003ujz.3	Q8NFT2	OTTHUMG00000023341	ENST00000287908.3:c.673delT	7.37:g.89856465delT	ENSP00000287908:p.Phe227fs					STEAP2_ENST00000394626.1_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000394632.1_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000394629.2_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000402625.2_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000394622.2_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000394621.2_Frame_Shift_Del_p.F227fs	p.F227fs	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN			3	1066	+	all_hematologic(106;0.112)		227					A4D1F1|G5E9C6|Q6UXN6|Q6YPB1|Q8IUE7	Frame_Shift_Del	DEL	ENST00000287908.3	37	c.673delT	CCDS5615.1																																																																																				0.393	STEAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059662.4	NM_152999		12	725						12	725	---	---	---	---
MEPCE	56257	broad.mit.edu	37	7	100028452	100028454	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr7:100028452_100028454delCAG	ENST00000310512.2	+	1	1199_1201	c.811_813delCAG	c.(811-813)cagdel	p.Q274del	ZCWPW1_ENST00000398027.2_5'Flank|ZCWPW1_ENST00000324725.6_5'Flank|ZCWPW1_ENST00000360951.4_5'Flank|MEPCE_ENST00000414441.1_5'UTR	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	274					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|RNA methylation (GO:0001510)|snRNA metabolic process (GO:0016073)|snRNA modification (GO:0040031)		poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ACAGCACCACCAGCAGCAGCAGG	0.65																																						ENST00000310512.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(811-813)del		methylphosphate capping enzyme																																				SO:0001651	inframe_deletion	56257						methyltransferase activity	g.chr7:100028452_100028454delCAG	AF264752	CCDS5693.1, CCDS55136.1	7q22.1	2008-02-04	2007-07-26	2007-07-26	ENSG00000146834	ENSG00000146834			20247	protein-coding gene	gene with protein product		611478	"""bin3, bicoid-interacting 3, homolog (Drosophila)"""	BCDIN3		12358911, 17643375	Standard	NM_019606		Approved	FLJ20257, MePCE	uc003uuw.3	Q7L2J0	OTTHUMG00000155255	ENST00000310512.2:c.811_813delCAG	7.37:g.100028461_100028463delCAG	ENSP00000308546:p.Gln274del					MEPCE_ENST00000414441.1_5'UTR	p.Q274del	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN			1	1199_1201	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		274					B3KP86|D6W5V7|Q9NPD4	In_Frame_Del	DEL	ENST00000310512.2	37	c.811_813delCAG	CCDS5693.1																																																																																				0.650	MEPCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339135.1			7	1061						7	1061	---	---	---	---
MEPCE	56257	broad.mit.edu	37	7	100028823	100028825	+	In_Frame_Del	DEL	CCA	CCA	-	rs71555278		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr7:100028823_100028825delCCA	ENST00000310512.2	+	1	1570_1572	c.1182_1184delCCA	c.(1180-1185)cgccac>cgc	p.H399del	ZCWPW1_ENST00000398027.2_5'Flank|ZCWPW1_ENST00000324725.6_5'Flank|ZCWPW1_ENST00000360951.4_5'Flank|MEPCE_ENST00000414441.1_5'UTR	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	399					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|RNA methylation (GO:0001510)|snRNA metabolic process (GO:0016073)|snRNA modification (GO:0040031)		poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGGGAGGCCGCCACCACCACCAC	0.581																																						ENST00000310512.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1180-1185)cgc>cg		methylphosphate capping enzyme																																				SO:0001651	inframe_deletion	56257						methyltransferase activity	g.chr7:100028823_100028825delCCA	AF264752	CCDS5693.1, CCDS55136.1	7q22.1	2008-02-04	2007-07-26	2007-07-26	ENSG00000146834	ENSG00000146834			20247	protein-coding gene	gene with protein product		611478	"""bin3, bicoid-interacting 3, homolog (Drosophila)"""	BCDIN3		12358911, 17643375	Standard	NM_019606		Approved	FLJ20257, MePCE	uc003uuw.3	Q7L2J0	OTTHUMG00000155255	ENST00000310512.2:c.1182_1184delCCA	7.37:g.100028832_100028834delCCA	ENSP00000308546:p.His399del					MEPCE_ENST00000414441.1_5'UTR	p.RH394del	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN			1	1570_1572	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		394					B3KP86|D6W5V7|Q9NPD4	In_Frame_Del	DEL	ENST00000310512.2	37	c.1182_1184delCCA	CCDS5693.1																																																																																				0.581	MEPCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339135.1			13	371						13	371	---	---	---	---
NAPEPLD	222236	broad.mit.edu	37	7	102769241	102769242	+	Splice_Site	INS	-	-	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr7:102769241_102769242insA	ENST00000417955.1	-	2	139		c.e2-2		NAPEPLD_ENST00000427257.1_Splice_Site|NAPEPLD_ENST00000341533.4_Splice_Site|NAPEPLD_ENST00000455523.2_Splice_Site|NAPEPLD_ENST00000465647.1_Splice_Site			Q6IQ20	NAPEP_HUMAN	N-acyl phosphatidylethanolamine phospholipase D						phospholipid catabolic process (GO:0009395)	extracellular vesicular exosome (GO:0070062)|photoreceptor outer segment membrane (GO:0042622)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GGTGAAGAACTAAAAAAAACAA	0.337																																						ENST00000417955.1																			0				endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.e2-2		N-acyl phosphatidylethanolamine phospholipase D																																				SO:0001630	splice_region_variant	222236				phospholipid catabolic process	membrane	metal ion binding	g.chr7:102769241_102769242insA	BC037350, AY357337	CCDS5729.1	7q22.1	2014-03-14			ENSG00000161048	ENSG00000161048	3.1.4.54		21683	protein-coding gene	gene with protein product	"""chromosome 7 open reading frame 18, N-acyl-phosphatidylethanolamine-hydrolyzing phospholipase D"""	612334				14634025, 15820312, 18067139	Standard	NM_198990		Approved	FMP30, C7orf18, NAPE-PLD	uc003vbd.2	Q6IQ20	OTTHUMG00000157204	ENST00000417955.1:c.16-2->T	7.37:g.102769249_102769249dupA						NAPEPLD_ENST00000341533.4_Splice_Site|NAPEPLD_ENST00000465647.1_Splice_Site|NAPEPLD_ENST00000455523.2_Splice_Site|NAPEPLD_ENST00000427257.1_Splice_Site				Q6IQ20	NAPEP_HUMAN			2	139	-								Q5CZ87|Q769K1	Splice_Site	INS	ENST00000417955.1	37		CCDS5729.1																																																																																				0.337	NAPEPLD-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347904.1	NM_198990	Intron	7	431						7	431	---	---	---	---
CAPZA2	830	broad.mit.edu	37	7	116546325	116546326	+	Frame_Shift_Ins	INS	-	-	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr7:116546325_116546326insA	ENST00000361183.3	+	6	574_575	c.435_436insA	c.(436-438)aaafs	p.K146fs	CAPZA2_ENST00000458284.2_Intron	NM_006136.2	NP_006127.1	P47755	CAZA2_HUMAN	capping protein (actin filament) muscle Z-line, alpha 2	146					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)	actin cytoskeleton (GO:0015629)|cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|F-actin capping protein complex (GO:0008290)|membrane (GO:0016020)|WASH complex (GO:0071203)				endometrium(2)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	13	all_cancers(3;8.53e-08)|all_epithelial(6;7.79e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)		GBM - Glioblastoma multiforme(2;5.01e-06)|STAD - Stomach adenocarcinoma(10;0.000512)|all cancers(2;0.00326)			AGGTGTATGGCAAAAAAATAGA	0.317																																						ENST00000361183.2																			0				endometrium(2)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	13						c.(433-438)ggaaaafs		capping protein (actin filament) muscle Z-line, alpha 2																																				SO:0001589	frameshift_variant	830				actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement|innate immune response|protein complex assembly	cytosol|extracellular region|F-actin capping protein complex	actin binding	g.chr7:116546325_116546326insA		CCDS5768.1	7q31.2-q31.3	2008-07-18			ENSG00000198898	ENSG00000198898			1490	protein-coding gene	gene with protein product	"""F-actin capping protein alpha-2 subunit"""	601571					Standard	NM_006136		Approved	CAPZ, CAPPA2	uc003vil.3	P47755	OTTHUMG00000023185	ENST00000361183.3:c.442dupA	7.37:g.116546332_116546332dupA	ENSP00000354947:p.Lys146fs					CAPZA2_ENST00000458284.2_Intron	p.GK145fs	NM_006136.2	NP_006127.1	P47755	CAZA2_HUMAN	GBM - Glioblastoma multiforme(2;5.01e-06)|STAD - Stomach adenocarcinoma(10;0.000512)|all cancers(2;0.00326)		6	574_575	+	all_cancers(3;8.53e-08)|all_epithelial(6;7.79e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)		145					B4DG50	Frame_Shift_Ins	INS	ENST00000361183.3	37	c.435_436insA	CCDS5768.1																																																																																				0.317	CAPZA2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059506.4	NM_006136		7	602						7	602	---	---	---	---
EXOC4	60412	broad.mit.edu	37	7	133160181	133160181	+	Frame_Shift_Del	DEL	T	T	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr7:133160181delT	ENST00000253861.4	+	8	1311	c.1282delT	c.(1282-1284)tttfs	p.F429fs	EXOC4_ENST00000393161.2_Frame_Shift_Del_p.F429fs|EXOC4_ENST00000539845.1_Frame_Shift_Del_p.F328fs	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	429					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				GTTTGCAGCCTTTTTTGCCAA	0.378																																						ENST00000253861.4																			0				NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50						c.(1282-1284)ttfs		exocyst complex component 4							123.0	127.0	126.0					7																	133160181		2203	4300	6503	SO:0001589	frameshift_variant	60412				vesicle docking involved in exocytosis	exocyst	protein N-terminus binding	g.chr7:133160181delT	AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"""SEC8-like 1 (S. cerevisiae)"""	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.1282delT	7.37:g.133160181delT	ENSP00000253861:p.Phe429fs					EXOC4_ENST00000539845.1_Frame_Shift_Del_p.F328fs|EXOC4_ENST00000393161.2_Frame_Shift_Del_p.F429fs	p.F429fs	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN			8	1311	+		Esophageal squamous(399;0.129)	429					E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Frame_Shift_Del	DEL	ENST00000253861.4	37	c.1282delT	CCDS5829.1																																																																																				0.378	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339182.1	NM_021807		7	1318						7	1318	---	---	---	---
TRBV7-1	28597	broad.mit.edu	37	7	142032162	142032163	+	RNA	DEL	GA	GA	-	rs149220181|rs549861664	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr7:142032162_142032163delGA	ENST00000547918.2	+	0	82									T cell receptor beta variable 7-1 (non-functional)																		atgtgtgtgtgAGAGAGAGAGA	0.505																																						ENST00000547918.2																			0																																																			0							g.chr7:142032162_142032163delGA	X61444		7q34	2012-02-07	2008-09-12		ENSG00000211707	ENSG00000211707		"""T cell receptors / TRB locus"""	12235	other	T cell receptor gene			"""T cell receptor beta variable 7-1"""			8650574	Standard	NG_001333		Approved	TRBV71, TCRBV6S7P, TCRBV7S1			OTTHUMG00000158529		7.37:g.142032172_142032173delGA														0	82	+									RNA	DEL	ENST00000547918.2	37																																																																																						0.505	TRBV7-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351235.1	NG_001333		7	88						7	88	---	---	---	---
MCPH1	79648	broad.mit.edu	37	8	6289099	6289099	+	Frame_Shift_Del	DEL	A	A	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	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		10	531						10	531	---	---	---	---
WRN	7486	broad.mit.edu	37	8	30945377	30945379	+	In_Frame_Del	DEL	AAG	AAG	-	rs555283914	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr8:30945377_30945379delAAG	ENST00000298139.5	+	12	1766_1768	c.1517_1519delAAG	c.(1516-1521)aaagaa>aaa	p.E510del		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	510	Poly-Glu.				aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CTTCCTACTAaagaagaagaaga	0.36			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome					3	0.000599042	0.0	0.0	5008	,	,		22085	0.001		0.001	False		,,,				2504	0.001				Ovarian(18;161 598 2706 14834 27543)	ENST00000298139.5			yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	"""Mis, N, F, S"""	Werner syndrome (RECQL2)			"""L, E, M, O"""		"""osteosarcoma, meningioma, others"""			0				central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60						c.(1516-1521)aaa>a	Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome, RecQ helicase-like																																				SO:0001651	inframe_deletion	7486	Werner syndrome	Familial Cancer Database	WS, Adult Progeria	base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	g.chr8:30945377_30945379delAAG		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"""Werner syndrome"""			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.1517_1519delAAG	8.37:g.30945386_30945388delAAG	ENSP00000298139:p.Glu510del						p.KE506del	NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)	12	1766_1768	+		Breast(100;0.195)	506					A1KYY9	In_Frame_Del	DEL	ENST00000298139.5	37	c.1517_1519delAAG	CCDS6082.1																																																																																				0.360	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1			9	489						9	489	---	---	---	---
BHLHE22	27319	broad.mit.edu	37	8	65494020	65494021	+	In_Frame_Ins	INS	-	-	GCA	rs71561231|rs34265378|rs62519836|rs564889045	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr8:65494020_65494021insGCA	ENST00000321870.1	+	1	1207_1208	c.673_674insGCA	c.(673-675)ggc>gGCAgc	p.234_235insS	RP11-21C4.1_ENST00000517909.1_RNA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix family, member e22	234	Ser-rich.				anterior commissure morphogenesis (GO:0021960)|cerebral cortex regionalization (GO:0021796)|corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|retinal bipolar neuron differentiation (GO:0060040)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.S234delS(1)		NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						cggcagcggcggcagcagcagc	0.718																																					Colon(113;104 1586 2865 9855 18065)	ENST00000321870.1																			1	Deletion - In frame(1)	p.S234delS(1)	central_nervous_system(1)	NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						c.(673-675)cag>GCAcag		basic helix-loop-helix family, member e22																																				SO:0001652	inframe_insertion	27319				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr8:65494020_65494021insGCA	U80755	CCDS6179.1	8q12.1	2009-01-12	2009-01-12	2009-01-12		ENSG00000180828		"""Basic helix-loop-helix proteins"""	11963	protein-coding gene	gene with protein product		613483	"""trinucleotide repeat containing 20"", ""basic helix-loop-helix domain containing, class B, 5"""	TNRC20, BHLHB5		9225980, 12213201, 18557763	Standard	NM_152414		Approved	CAGL85, Beta3, bHLHe22	uc003xvi.3	Q8NFJ8		ENST00000321870.1:c.701_703dupGCA	8.37:g.65494027_65494029dupGCA	ENSP00000318799:p.Ser234_Ser234dup					RP11-21C4.1_ENST00000517909.1_RNA	p.224_225insA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN			1	1207_1208	+			224			Gly-rich.|Ser-rich.			In_Frame_Ins	INS	ENST00000321870.1	37	c.673_674insGCA	CCDS6179.1																																																																																				0.718	BHLHE22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378549.1	NM_152414		13	22						13	22	---	---	---	---
SULF1	23213	broad.mit.edu	37	8	70514026	70514026	+	Frame_Shift_Del	DEL	T	T	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr8:70514026delT	ENST00000260128.4	+	10	1740	c.1023delT	c.(1021-1023)cctfs	p.P341fs	SULF1_ENST00000402687.4_Frame_Shift_Del_p.P341fs|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000458141.2_Frame_Shift_Del_p.P341fs|SULF1_ENST00000419716.3_Frame_Shift_Del_p.P341fs	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	341					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TTCGTGTGCCTTTTTTTATTC	0.408																																						ENST00000260128.4																			0				breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(1021-1023)ccfs		sulfatase 1							396.0	343.0	361.0					8																	70514026		2203	4300	6503	SO:0001589	frameshift_variant	23213				apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr8:70514026delT	AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.1023delT	8.37:g.70514026delT	ENSP00000260128:p.Pro341fs					SULF1_ENST00000458141.2_Frame_Shift_Del_p.P341fs|SULF1_ENST00000402687.4_Frame_Shift_Del_p.P341fs|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000419716.3_Frame_Shift_Del_p.P341fs	p.P341fs	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)		10	1740	+	Breast(64;0.0654)		341					Q86YV8|Q8NCA2|Q9UPS5	Frame_Shift_Del	DEL	ENST00000260128.4	37	c.1023delT	CCDS6204.1																																																																																				0.408	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170		7	1341						7	1341	---	---	---	---
E2F5	1875	broad.mit.edu	37	8	86129664	86129664	+	IGR	DEL	T	T	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr8:86129664delT	ENST00000416274.2	+	0	1728				C8orf59_ENST00000545322.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000421308.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000518562.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000321777.5_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000417663.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000518091.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000458398.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000524353.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000431163.2_Frame_Shift_Del_p.N22fs	NM_001083588.1|NM_001951.3	NP_001077057.1|NP_001942.2	Q15329	E2F5_HUMAN	E2F transcription factor 5, p130-binding						gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						AGCCTTAAAGTTTTTTTGGCT	0.343																																						ENST00000417663.2																			0											c.(64-66)acfs		chromosome 8 open reading frame 59							196.0	178.0	184.0					8																	86129664		1818	4077	5895	SO:0001628	intergenic_variant	401466							g.chr8:86129664delT	X86097	CCDS47885.1, CCDS47886.1, CCDS55254.1	8q21.2	2004-01-29			ENSG00000133740	ENSG00000133740			3119	protein-coding gene	gene with protein product		600967				7892279	Standard	NM_001083588		Approved		uc003ycz.4	Q15329	OTTHUMG00000164785		8.37:g.86129664delT						C8orf59_ENST00000431163.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000421308.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000458398.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000545322.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000518562.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000321777.5_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000518091.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000524353.1_Frame_Shift_Del_p.N22fs	p.N22fs	NM_001099670.1|NM_001099671.1|NM_001099672.1|NM_001099673.1	NP_001093140.1|NP_001093141.1|NP_001093142.1|NP_001093143.1	Q8N0T1	CH059_HUMAN			2	136	-			22					E9PBN9|Q16601|Q92756	Frame_Shift_Del	DEL	ENST00000416274.2	37	c.65delA	CCDS47885.1																																																																																				0.343	E2F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380274.1	NM_001951		7	780						7	780	---	---	---	---
CDKN2A	1029	broad.mit.edu	37	9	21971096	21971096	+	Frame_Shift_Del	DEL	C	C	-	rs121913384		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr9:21971096delC	ENST00000304494.5	-	2	532	c.262delG	c.(262-264)gagfs	p.E88fs	CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.E88fs|CDKN2A_ENST00000361570.3_Frame_Shift_Del_p.G144fs|CDKN2A_ENST00000479692.2_Frame_Shift_Del_p.E37fs|CDKN2A_ENST00000530628.2_Frame_Shift_Del_p.G103fs|CDKN2A_ENST00000498628.2_Frame_Shift_Del_p.E37fs|CDKN2A_ENST00000579755.1_Frame_Shift_Del_p.G103fs|CDKN2A_ENST00000494262.1_Frame_Shift_Del_p.E37fs|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.E88fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000497750.1_Frame_Shift_Del_p.E37fs|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.E88fs|CDKN2A_ENST00000578845.2_Frame_Shift_Del_p.E37fs	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	88			E -> D (in a biliary tract 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.E88*(15)|p.E88K(3)|p.H83fs*2(2)|p.D84_F90del(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.G143V(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.V82_E88del(1)|p.E87K(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)		AGGAAGCCCTCCCGGGCAGCG	0.756	E88*(CAL33_UPPER_AERODIGESTIVE_TRACT)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000579755.1	E88*(CAL33_UPPER_AERODIGESTIVE_TRACT)	17																	1388	Whole gene deletion(1316)|Unknown(44)|Substitution - Nonsense(15)|Substitution - Missense(5)|Deletion - Frameshift(4)|Deletion - In frame(3)|Complex - deletion inframe(1)	p.0?(1315)|p.?(44)|p.E88*(15)|p.E88K(3)|p.H83fs*2(2)|p.D84_F90del(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.G143V(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.V82_E88del(1)|p.E87K(1)	haematopoietic_and_lymphoid_tissue(283)|skin(177)|central_nervous_system(167)|lung(148)|urinary_tract(91)|bone(74)|upper_aerodigestive_tract(57)|soft_tissue(57)|oesophagus(56)|pleura(51)|ovary(36)|kidney(32)|breast(32)|pancreas(30)|thyroid(13)|NS(13)|biliary_tract(12)|stomach(12)|autonomic_ganglia(9)|liver(9)|meninges(9)|large_intestine(6)|salivary_gland(4)|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	CM034218	CDKN2A	M	rs121913384	c.(304-306)gafs		cyclin-dependent kinase inhibitor 2A							13.0	16.0	15.0					9																	21971096		2176	4259	6435	SO:0001589	frameshift_variant	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.chr9:21971096delC	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.262delG	9.37:g.21971096delC	ENSP00000307101:p.Glu88fs	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000361570.3_Frame_Shift_Del_p.G144fs|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.E88fs|CDKN2A_ENST00000530628.2_Frame_Shift_Del_p.G103fs|CDKN2A_ENST00000304494.5_Frame_Shift_Del_p.E88fs|CDKN2A_ENST00000494262.1_Frame_Shift_Del_p.E37fs|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.E88fs|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.E88fs|CDKN2A_ENST00000497750.1_Frame_Shift_Del_p.E37fs|CDKN2A_ENST00000498628.2_Frame_Shift_Del_p.E37fs|CDKN2A_ENST00000578845.2_Frame_Shift_Del_p.E37fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000479692.2_Frame_Shift_Del_p.E37fs	p.G103fs			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	597	-		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					A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Frame_Shift_Del	DEL	ENST00000304494.5	37	c.305delG	CCDS6510.1																																																																																				0.756	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		30	98						30	98	---	---	---	---
GRHPR	9380	broad.mit.edu	37	9	37425978	37425978	+	Frame_Shift_Del	DEL	G	G	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr9:37425978delG	ENST00000318158.6	+	3	359	c.274delG	c.(274-276)gaafs	p.E92fs	GRHPR_ENST00000607784.1_Frame_Shift_Del_p.E92fs|GRHPR_ENST00000493368.1_3'UTR	NM_012203.1	NP_036335.1	Q9UBQ7	GRHPR_HUMAN	glyoxylate reductase/hydroxypyruvate reductase	92					cellular nitrogen compound metabolic process (GO:0034641)|dicarboxylic acid metabolic process (GO:0043648)|excretion (GO:0007588)|glyoxylate metabolic process (GO:0046487)|metabolic process (GO:0008152)|oxidation-reduction process (GO:0055114)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|peroxisomal matrix (GO:0005782)	carboxylic acid binding (GO:0031406)|glycerate dehydrogenase activity (GO:0008465)|glyoxylate reductase (NADP) activity (GO:0030267)|hydroxypyruvate reductase activity (GO:0016618)|NAD binding (GO:0051287)|NADPH binding (GO:0070402)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				GBM - Glioblastoma multiforme(29;0.00687)		GGCTTTGGATGAAATCAAGAA	0.483																																						ENST00000607784.1																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(274-276)aafs		glyoxylate reductase/hydroxypyruvate reductase							114.0	99.0	104.0					9																	37425978		2203	4300	6503	SO:0001589	frameshift_variant	9380				cellular nitrogen compound metabolic process|excretion|glyoxylate metabolic process	peroxisomal matrix	glycerate dehydrogenase activity|glyoxylate reductase (NADP) activity|hydroxypyruvate reductase activity|NAD binding|protein binding	g.chr9:37425978delG	AF134895	CCDS6609.1	9q12	2012-07-13			ENSG00000137106	ENSG00000137106	1.1.1.79, 1.1.1.81		4570	protein-coding gene	gene with protein product	"""primary hyperoxaluria type 2"""	604296		GLXR		10524214, 10484776	Standard	XM_005251631		Approved	PH2	uc003zzu.1	Q9UBQ7	OTTHUMG00000019914	ENST00000318158.6:c.274delG	9.37:g.37425978delG	ENSP00000313432:p.Glu92fs					GRHPR_ENST00000493368.1_3'UTR|GRHPR_ENST00000318158.6_Frame_Shift_Del_p.E92fs	p.E92fs			Q9UBQ7	GRHPR_HUMAN		GBM - Glioblastoma multiforme(29;0.00687)	3	279	+			92					Q5T945|Q9H3E9|Q9H636|Q9UKX1	Frame_Shift_Del	DEL	ENST00000318158.6	37	c.274delG	CCDS6609.1																																																																																				0.483	GRHPR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052442.1	NM_012203		24	328						24	328	---	---	---	---
PCSK5	5125	broad.mit.edu	37	9	78973707	78973709	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr9:78973707_78973709delGAT	ENST00000545128.1	+	37	5990_5992	c.5452_5454delGAT	c.(5452-5454)gatdel	p.D1822del		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	1822	AC 1. {ECO:0000250}.|Asp-rich.				anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CTATGATGAGGATGATGATGATG	0.468																																						ENST00000545128.1																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(5452-5454)del		proprotein convertase subtilisin/kexin type 5																																				SO:0001651	inframe_deletion	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78973707_78973709delGAT		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.5452_5454delGAT	9.37:g.78973716_78973718delGAT	ENSP00000446280:p.Asp1822del						p.D1822del	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN			37	5990_5992	+			639					F5H2G7|Q13527|Q96EP4	In_Frame_Del	DEL	ENST00000545128.1	37	c.5452_5454delGAT	CCDS55320.1																																																																																				0.468	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				7	997						7	997	---	---	---	---
NFIL3	4783	broad.mit.edu	37	9	94172779	94172779	+	Frame_Shift_Del	DEL	T	T	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr9:94172779delT	ENST00000297689.3	-	2	632	c.238delA	c.(238-240)aggfs	p.R81fs		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	81	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cellular response to interleukin-4 (GO:0071353)|circadian rhythm (GO:0007623)|immune response (GO:0006955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						TTTTTCCGCCTTTTTTCCCAA	0.423																																					Esophageal Squamous(152;732 1832 10053 26981 51762)	ENST00000297689.3																			0				endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						c.(238-240)ggfs		nuclear factor, interleukin 3 regulated							214.0	216.0	215.0					9																	94172779		2203	4300	6503	SO:0001589	frameshift_variant	4783				circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr9:94172779delT	X64318	CCDS6690.1	9q22	2013-01-10			ENSG00000165030	ENSG00000165030		"""basic leucine zipper proteins"""	7787	protein-coding gene	gene with protein product		605327		IL3BP1		7565758, 1620116	Standard	NM_005384		Approved	E4BP4, NFIL3A, NF-IL3A	uc004arh.3	Q16649	OTTHUMG00000020209	ENST00000297689.3:c.238delA	9.37:g.94172779delT	ENSP00000297689:p.Arg81fs						p.R81fs	NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN			2	632	-			81					B2R9Y8|Q14211|Q6FGQ8|Q96HS0	Frame_Shift_Del	DEL	ENST00000297689.3	37	c.238delA	CCDS6690.1																																																																																				0.423	NFIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053038.2	NM_005384		9	1316						9	1316	---	---	---	---
FOXE1	2304	broad.mit.edu	37	9	100616701	100616706	+	In_Frame_Del	DEL	GCCGCC	GCCGCC	-	rs371516340|rs565664344|rs71369530	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr9:100616701_100616706delGCCGCC	ENST00000375123.3	+	1	1166_1171	c.505_510delGCCGCC	c.(505-510)gccgccdel	p.AA177del		NM_004473.3	NP_004464.2	O00358	FOXE1_HUMAN	forkhead box E1 (thyroid transcription factor 2)	177	Ala-rich.|Poly-Ala.				anatomical structure morphogenesis (GO:0009653)|cell migration (GO:0016477)|embryonic organ morphogenesis (GO:0048562)|hair follicle morphogenesis (GO:0031069)|hard palate development (GO:0060022)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pharynx development (GO:0060465)|positive regulation of transcription, DNA-templated (GO:0045893)|soft palate development (GO:0060023)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(62;0.158)				Ggctgccgcagccgccgccgccgccg	0.767																																						ENST00000375123.3																			0				central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5						c.(505-510)del		forkhead box E1 (thyroid transcription factor 2)																																				SO:0001651	inframe_deletion	2304				cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter 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.chr9:100616701_100616706delGCCGCC	U89995	CCDS35078.1	9q22	2008-09-05			ENSG00000178919	ENSG00000178919		"""Forkhead boxes"""	3806	protein-coding gene	gene with protein product		602617	"""forkhead box E2"""	FKHL15, TITF2, FOXE2		9169137, 9697705	Standard	NM_004473		Approved	TTF-2, HFKH4	uc004axu.3	O00358	OTTHUMG00000020333	ENST00000375123.3:c.505_510delGCCGCC	9.37:g.100616707_100616712delGCCGCC	ENSP00000364265:p.Ala177_Ala178del						p.AA177del	NM_004473.3	NP_004464.2	O00358	FOXE1_HUMAN			1	1166_1171	+		Acute lymphoblastic leukemia(62;0.158)	177			Ala-rich.|Poly-Ala.		O75765|Q5T109|Q99526	In_Frame_Del	DEL	ENST00000375123.3	37	c.505_510delGCCGCC	CCDS35078.1																																																																																				0.767	FOXE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053341.1			10	56						10	56	---	---	---	---
TSC1	7248	broad.mit.edu	37	9	135771988	135771990	+	In_Frame_Del	DEL	GCT	GCT	-	rs397514812|rs201192125	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr9:135771988_135771990delGCT	ENST00000298552.3	-	23	3348_3350	c.3127_3129delAGC	c.(3127-3129)agcdel	p.S1043del	TSC1_ENST00000440111.2_In_Frame_Del_p.S1043del|TSC1_ENST00000545250.1_In_Frame_Del_p.S992del	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	1043	Poly-Ser.		Missing (in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling). {ECO:0000269|PubMed:22161988}.		activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)	p.S1043N(1)|p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		TAGAAAGCTCgctgctgctgctg	0.64			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													ENST00000298552.3			yes	Rec		Tuberous sclerosis 1	9	9q34	7248	"""D, Mis, N, F, S"""	tuberous sclerosis 1 gene			"""E, O"""		"""hamartoma, renal cell"""			2	Substitution - Missense(1)|Unknown(1)	p.S1043N(1)|p.?(1)	central_nervous_system(1)|bone(1)	NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65						c.(3127-3129)del		tuberous sclerosis 1																																				SO:0001651	inframe_deletion	0	Tuberous Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	g.chr9:135771988_135771990delGCT	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.3127_3129delAGC	9.37:g.135771997_135771999delGCT	ENSP00000298552:p.Ser1043del					TSC1_ENST00000440111.2_In_Frame_Del_p.S1043del|TSC1_ENST00000545250.1_In_Frame_Del_p.S992del	p.S1043del	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)	23	3348_3350	-			1043			Poly-Ser.		B7Z897|Q5VVN5	In_Frame_Del	DEL	ENST00000298552.3	37	c.3127_3129delAGC	CCDS6956.1																																																																																				0.640	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054799.1			7	257						7	257	---	---	---	---
DDX50	79009	broad.mit.edu	37	10	70666692	70666693	+	Frame_Shift_Ins	INS	-	-	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr10:70666692_70666693insA	ENST00000373585.3	+	2	420_421	c.313_314insA	c.(313-315)gaafs	p.E105fs		NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	105						membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						AGATGAATATGAAAAAAAATCA	0.307																																						ENST00000373585.3																			0				breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						c.(313-315)aaafs		DEAD (Asp-Glu-Ala-Asp) box polypeptide 50																																				SO:0001589	frameshift_variant	79009					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr10:70666692_70666693insA	AF334103	CCDS7283.1	10q22.2	2010-09-30			ENSG00000107625	ENSG00000107625		"""DEAD-boxes"""	17906	protein-coding gene	gene with protein product		610373				11891046	Standard	NM_024045		Approved	GU2, MGC3199, GUB, RH-II/GuB	uc001jou.3	Q9BQ39	OTTHUMG00000018362	ENST00000373585.3:c.321dupA	10.37:g.70666700_70666700dupA	ENSP00000362687:p.Glu105fs						p.K105fs	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN			2	420_421	+			105					Q5VX37|Q8WV76|Q9BWI8	Frame_Shift_Ins	INS	ENST00000373585.3	37	c.313_314insA	CCDS7283.1																																																																																				0.307	DDX50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048363.1	NM_024045		7	889						7	889	---	---	---	---
MCU	90550	broad.mit.edu	37	10	74451955	74451956	+	In_Frame_Ins	INS	-	-	GGGGCG			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr10:74451955_74451956insGGGGCG	ENST00000373053.3	+	1	67_68	c.46_47insGGGGCG	c.(46-48)cgg>cGGGGCGgg	p.22_23insGG	MCU_ENST00000357157.6_In_Frame_Ins_p.22_23insGG|MCU_ENST00000536019.1_5'Flank	NM_138357.2	NP_612366.1	Q8NE86	MCU_HUMAN	mitochondrial calcium uniporter	22					calcium ion transmembrane import into mitochondrion (GO:0036444)|calcium-mediated signaling (GO:0019722)|glucose homeostasis (GO:0042593)|mitochondrial calcium ion transport (GO:0006851)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|protein complex oligomerization (GO:0035786)	calcium channel complex (GO:0034704)|integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane (GO:0005743)|uniplex complex (GO:1990246)	calcium channel activity (GO:0005262)|uniporter activity (GO:0015292)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	14						CCTCTCCTCTCGGggcggcggc	0.767																																						ENST00000373053.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	14						c.(46-48)ggg>GGGGCGggg		mitochondrial calcium uniporter				14,2726		6,2,1362						4.4	1.0			3	64,6098		13,38,3030	no	coding	MCU	NM_138357.1		19,40,4392	A1A1,A1R,RR		1.0386,0.5109,0.8762				78,8824				SO:0001652	inframe_insertion	90550				elevation of mitochondrial calcium ion concentration|mitochondrial calcium ion transport|protein complex oligomerization	integral to membrane|mitochondrial inner membrane	protein binding	g.chr10:74451955_74451956insGGGGCG	BC034235	CCDS7317.1, CCDS59218.1, CCDS59219.1	10q22.2	2011-06-23	2011-06-23	2011-06-23	ENSG00000156026	ENSG00000156026			23526	protein-coding gene	gene with protein product		614197	"""coiled-coil domain containing 109A"""	C10orf42, CCDC109A		21685886, 21685888	Standard	NM_138357		Approved	FLJ46135	uc001jtc.3	Q8NE86	OTTHUMG00000018443	ENST00000373053.3:c.47_52dupGGGGCG	10.37:g.74451956_74451961dupGGGGCG	ENSP00000362144:p.Gly24_Gly25dup					MCU_ENST00000357157.6_In_Frame_Ins_p.16_16G>GAG	p.16_16G>GAG	NM_138357.1	NP_612366.1	Q8NE86	MCU_HUMAN			1	67_68	+			16					B2RDF3|B3KXV7|Q96FL3	In_Frame_Ins	INS	ENST00000373053.3	37	c.46_47insGGGGCG	CCDS7317.1																																																																																				0.767	MCU-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048594.1	NM_138357		24	55						24	55	---	---	---	---
LINC00857	439990	broad.mit.edu	37	10	81975483	81975486	+	lincRNA	DEL	TCTT	TCTT	-	rs61081450|rs201913614		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr10:81975483_81975486delTCTT	ENST00000422847.1	+	0	522					NR_038464.1				long intergenic non-protein coding RNA 857																		tctttctttctctttctttctttc	0.407																																						ENST00000422847.1																			0																																																			0							g.chr10:81975483_81975486delTCTT			10q22.3	2013-02-15			ENSG00000237523	ENSG00000237523		"""Long non-coding RNAs"""	45114	non-coding RNA	RNA, long non-coding							Standard	NR_038464		Approved		uc001kbv.3		OTTHUMG00000018605		10.37:g.81975491_81975494delTCTT								NR_038464.1						0	522	+									RNA	DEL	ENST00000422847.1	37																																																																																						0.407	LINC00857-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000049054.1	NR_038464		6	5						6	5	---	---	---	---
SPON1	10418	broad.mit.edu	37	11	14063263	14063263	+	RNA	DEL	A	A	-	rs113227652|rs369622005		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr11:14063263delA	ENST00000310358.7	+	0	1017							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)		GATTGCAGGGAAAAAAAAAAA	0.423																																						ENST00000310358.7																			0				NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21								spondin 1, extracellular matrix protein																																						10418				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding	g.chr11:14063263delA	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.14063263delA										Q9HCB6	SPON1_HUMAN		Epithelial(150;0.00898)	0	1017	+								A8K6W5|O94862|Q8NCD7|Q8WUR5	RNA	DEL	ENST00000310358.7	37																																																																																						0.423	SPON1-201	KNOWN	basic	processed_transcript	processed_transcript		NM_145584		10	103						10	103	---	---	---	---
ACTN3	89	broad.mit.edu	37	11	66321325	66321325	+	RNA	DEL	A	A	-	rs576993823	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr11:66321325delA	ENST00000502692.1	+	0	627				ACTN3_ENST00000513398.1_RNA	NM_001258371.1	NP_001245300.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly (GO:0048041)|muscle filament sliding (GO:0030049)|regulation of apoptotic process (GO:0042981)	actin filament (GO:0005884)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|pseudopodium (GO:0031143)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						actccatctcaaaaaaaaaaa	0.507													|||unknown(HR)	1155	0.230631	0.2867	0.1758	5008	,	,		13713	0.2698		0.1909	False		,,,				2504	0.1943					ENST00000502692.1																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10								actinin, alpha 3 (gene/pseudogene)																																						89				focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle	g.chr11:66321325delA	M86407		11q13.2	2013-10-02	2012-10-05		ENSG00000248746	ENSG00000248746			165	protein-coding gene	gene with protein product		102574	"""actinin, alpha 3"""			1339456	Standard	NM_001104		Approved		uc031qbp.1	Q08043	OTTHUMG00000160815		11.37:g.66321325delA						ACTN3_ENST00000513398.1_RNA		NM_001258371.1	NP_001245300.1	Q08043	ACTN3_HUMAN			0	627	+								A6NP77|Q4KKV2	RNA	DEL	ENST00000502692.1	37																																																																																						0.507	ACTN3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000362465.1	NM_001104		2	4						2	4	---	---	---	---
MRE11A	4361	broad.mit.edu	37	11	94153333	94153335	+	In_Frame_Del	DEL	ATC	ATC	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr11:94153333_94153335delATC	ENST00000323929.3	-	20	2305_2307	c.2083_2085delGAT	c.(2083-2085)gatdel	p.D695del	MRE11A_ENST00000407439.3_In_Frame_Del_p.D698del|MRE11A_ENST00000393241.4_In_Frame_Del_p.D694del|MRE11A_ENST00000323977.3_In_Frame_Del_p.D667del	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	695					base-excision repair (GO:0006284)|cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|innate immune response (GO:0045087)|intra-S DNA damage checkpoint (GO:0031573)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of DNA endoreduplication (GO:0032876)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of type I interferon production (GO:0032481)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|sister chromatid cohesion (GO:0007062)|synapsis (GO:0007129)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromatin (GO:0000785)|cytosol (GO:0005829)|Mre11 complex (GO:0030870)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|manganese ion binding (GO:0030145)|nuclease activity (GO:0004518)|protein C-terminus binding (GO:0008022)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				TCATAAAAGGATCATCATCATCA	0.325								Homologous recombination	Ataxia-Telangiectasia-Like Disorder																													ENST00000323929.3																			0				breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29						c.(2083-2085)del	Homologous recombination	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)																																				SO:0001651	inframe_deletion	4361	Ataxia-Telangiectasia-Like Disorder	Familial Cancer Database	ATLD	DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr11:94153333_94153335delATC	BC063458	CCDS8298.1, CCDS8299.1	11q21	2014-09-17	2001-11-28		ENSG00000020922	ENSG00000020922			7230	protein-coding gene	gene with protein product	"""AT-like disease"""	600814	"""meiotic recombination (S. cerevisiae) 11 homolog A"""	MRE11		8530104	Standard	XM_005274007		Approved	ATLD	uc001peu.2	P49959	OTTHUMG00000167780	ENST00000323929.3:c.2083_2085delGAT	11.37:g.94153342_94153344delATC	ENSP00000325863:p.Asp695del					MRE11A_ENST00000407439.3_In_Frame_Del_p.D698del|MRE11A_ENST00000323977.3_In_Frame_Del_p.D667del|MRE11A_ENST00000393241.4_In_Frame_Del_p.D694del	p.D695del	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN			20	2305_2307	-		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)	695					O43475	In_Frame_Del	DEL	ENST00000323929.3	37	c.2083_2085delGAT	CCDS8299.1																																																																																				0.325	MRE11A-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396237.3	NM_005591		8	709						8	709	---	---	---	---
MMP12	4321	broad.mit.edu	37	11	102743846	102743847	+	RNA	INS	-	-	A	rs552593852|rs199627800		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr11:102743846_102743847insA	ENST00000532855.1	-	0	199							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|proteolysis (GO:0006508)|wound healing, spreading of epidermal cells (GO:0035313)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)|Marimastat(DB00786)	AGTATCTCTGGAAAAAAAAATA	0.332																																						ENST00000532855.1																			0				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26								matrix metallopeptidase 12 (macrophage elastase)	Acetohydroxamic Acid(DB00551)																																					4321				positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102743846_102743847insA	L23808	CCDS73375.1	11q22.3	2009-02-26	2005-08-08			ENSG00000262406			7158	protein-coding gene	gene with protein product		601046	"""matrix metalloproteinase 12 (macrophage elastase)"""				Standard	NM_002426		Approved	HME	uc001phk.3	P39900			11.37:g.102743855_102743855dupA										P39900	MMP12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.014)	0	199	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)						B2R9X8|B7ZLF6|Q2M1L9	RNA	INS	ENST00000532855.1	37																																																																																						0.332	MMP12-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000386646.1	NM_002426		7	198						7	198	---	---	---	---
NFRKB	4798	broad.mit.edu	37	11	129752496	129752496	+	Frame_Shift_Del	DEL	T	T	-	rs149369172		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr11:129752496delT	ENST00000446488.3	-	9	1035	c.932delA	c.(931-933)aagfs	p.K311fs	NFRKB_ENST00000524794.1_Frame_Shift_Del_p.K336fs|NFRKB_ENST00000304521.5_Frame_Shift_Del_p.K311fs|NFRKB_ENST00000524746.1_Frame_Shift_Del_p.K311fs	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	311	Lys-rich.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protease binding (GO:0002020)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		TTCCTTAACCTTTTTTTTAAG	0.438																																						ENST00000446488.3																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32						c.(931-933)agfs		nuclear factor related to kappaB binding protein							65.0	73.0	71.0					11																	129752496		2201	4297	6498	SO:0001589	frameshift_variant	4798				DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding	g.chr11:129752496delT		CCDS8483.1, CCDS44770.1	11q24-q25	2011-07-06			ENSG00000170322	ENSG00000170322		"""INO80 complex subunits"""	7802	protein-coding gene	gene with protein product	"""nuclear factor related to kappa B binding protein"", ""DNA-binding protein R kappa B"", ""INO80 complex subunit G"""	164013				1427843	Standard	NM_006165		Approved	DKFZp547B2013, INO80G	uc001qfg.3	Q6P4R8	OTTHUMG00000165761	ENST00000446488.3:c.932delA	11.37:g.129752496delT	ENSP00000400476:p.Lys311fs					NFRKB_ENST00000304521.5_Frame_Shift_Del_p.K311fs|NFRKB_ENST00000524746.1_Frame_Shift_Del_p.K311fs|NFRKB_ENST00000524794.1_Frame_Shift_Del_p.K336fs	p.K311fs	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)	9	1035	-	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	311			Lys-rich.		Q12869|Q15312|Q9H048	Frame_Shift_Del	DEL	ENST00000446488.3	37	c.932delA	CCDS44770.1																																																																																				0.438	NFRKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386063.2	NM_006165		11	641						11	641	---	---	---	---
CHD4	1108	broad.mit.edu	37	12	6711207	6711209	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr12:6711207_6711209delCTT	ENST00000357008.2	-	4	518_520	c.355_357delAAG	c.(355-357)aagdel	p.K119del	CHD4_ENST00000544484.1_In_Frame_Del_p.K116del|CHD4_ENST00000309577.6_In_Frame_Del_p.K119del|CHD4_ENST00000544040.1_In_Frame_Del_p.K112del	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	119	Poly-Lys.				ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)	p.K119delK(3)		central_nervous_system(2)	2						TAGGTCCAAGCTTCTTCTTCTTC	0.537																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			3	Deletion - In frame(3)	p.K119delK(3)	central_nervous_system(3)	central_nervous_system(2)	2						c.(355-357)del		chromodomain helicase DNA binding protein 4				115,4123		4,107,2008						4.7	1.0			29	227,7995		2,223,3886	no	coding	CHD4	NM_001273.2		6,330,5894	A1A1,A1R,RR		2.7609,2.7135,2.7448				342,12118				SO:0001651	inframe_deletion	1108				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|zinc ion binding	g.chr12:6711207_6711209delCTT	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.355_357delAAG	12.37:g.6711216_6711218delCTT	ENSP00000349508:p.Lys119del					CHD4_ENST00000357008.2_In_Frame_Del_p.K119del|CHD4_ENST00000544484.1_In_Frame_Del_p.K116del|CHD4_ENST00000544040.1_In_Frame_Del_p.K112del	p.K119del			Q14839	CHD4_HUMAN			4	518_520	-			119			Poly-Lys.		Q8IXZ5	In_Frame_Del	DEL	ENST00000357008.2	37	c.355_357delAAG	CCDS8552.1																																																																																				0.537	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		8	217						8	217	---	---	---	---
OVOS2	144203	broad.mit.edu	37	12	31269189	31269190	+	RNA	INS	-	-	ATCAT	rs25559|rs10665556	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr12:31269189_31269190insATCAT	ENST00000542490.1	-	0	165																				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1)	41						CATGAGAACTCATTACCATGAT	0.351														3178	0.634585	0.7088	0.611	5008	,	,		12379	0.8274		0.4284	False		,,,				2504	0.5644					ENST00000542490.1																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1)	41																																														0							g.chr12:31269189_31269190insATCAT																													12.37:g.31269189_31269190insATCAT														0	165	-									RNA	INS	ENST00000542490.1	37																																																																																						0.351	RP11-551L14.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400342.1			8	46						8	46	---	---	---	---
SCAF11	9169	broad.mit.edu	37	12	46318575	46318577	+	In_Frame_Del	DEL	GGT	GGT	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr12:46318575_46318577delGGT	ENST00000369367.3	-	12	4073_4075	c.3840_3842delACC	c.(3838-3843)ccaccc>ccc	p.1280_1281PP>P	SCAF11_ENST00000549162.1_In_Frame_Del_p.1088_1089PP>P|SCAF11_ENST00000419565.2_In_Frame_Del_p.1280_1281PP>P|SCAF11_ENST00000550629.1_5'Flank|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		7	477						7	477	---	---	---	---
XPOT	11260	broad.mit.edu	37	12	64812755	64812755	+	Frame_Shift_Del	DEL	T	T	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr12:64812755delT	ENST00000332707.5	+	6	899	c.370delT	c.(370-372)tttfs	p.F126fs		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	126	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport (GO:0006886)|tRNA export from nucleus (GO:0006409)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	tRNA binding (GO:0000049)	p.F126fs*6(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		GTGGCCCAAGTTTTTTTTTGA	0.443																																						ENST00000332707.5																			1	Deletion - Frameshift(1)	p.F126fs*6(1)	large_intestine(1)	NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(370-372)ttfs		exportin, tRNA							118.0	114.0	115.0					12																	64812755		2203	4300	6503	SO:0001589	frameshift_variant	11260				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding	g.chr12:64812755delT	AF039022	CCDS31852.1	12q14.1	2012-10-17	2012-10-17		ENSG00000184575	ENSG00000184575		"""Exportins"""	12826	protein-coding gene	gene with protein product		603180	"""exportin, tRNA (nuclear export receptor for tRNAs)"""			9660920, 9512417	Standard	NM_007235		Approved	XPO3	uc001ssb.3	O43592	OTTHUMG00000168794	ENST00000332707.5:c.370delT	12.37:g.64812755delT	ENSP00000327821:p.Phe126fs						p.F126fs	NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN		GBM - Glioblastoma multiforme(28;0.0404)	6	899	+			126			Necessary for interaction with Ran, nuclear localization and nuclear import.		A6NLH1|O43784|Q8WUG2|Q9BVS7	Frame_Shift_Del	DEL	ENST00000332707.5	37	c.370delT	CCDS31852.1																																																																																				0.443	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401122.1	NM_007235		12	606						12	606	---	---	---	---
TMEM19	55266	broad.mit.edu	37	12	72094757	72094757	+	Frame_Shift_Del	DEL	T	T	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr12:72094757delT	ENST00000266673.5	+	6	1587	c.993delT	c.(991-993)ggtfs	p.G331fs		NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN	transmembrane protein 19	331						integral component of membrane (GO:0016021)				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		CTGCTTGGGGTTTTTGGCCCA	0.433																																						ENST00000266673.5																			0				large_intestine(1)|lung(8)	9						c.(991-993)ggfs		transmembrane protein 19							199.0	184.0	189.0					12																	72094757		2203	4300	6503	SO:0001589	frameshift_variant	55266					integral to membrane		g.chr12:72094757delT	BC008596	CCDS9002.1	12q15	2004-03-04				ENSG00000139291			25605	protein-coding gene	gene with protein product						12477932	Standard	NM_018279		Approved	FLJ10936	uc001sws.3	Q96HH6	OTTHUMG00000169558	ENST00000266673.5:c.993delT	12.37:g.72094757delT	ENSP00000266673:p.Gly331fs						p.G331fs	NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN		GBM - Glioblastoma multiforme(134;0.044)	6	1587	+		Breast(359;0.0889)	331					B2RDL2|Q53FY3|Q9NV41	Frame_Shift_Del	DEL	ENST00000266673.5	37	c.993delT	CCDS9002.1																																																																																				0.433	TMEM19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404801.1	NM_018279		15	1129						15	1129	---	---	---	---
RP11-171L9.1	0	broad.mit.edu	37	12	78895740	78895741	+	lincRNA	INS	-	-	T	rs374749105|rs536463390|rs11387670|rs77701071|rs548827031|rs62699961	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr12:78895740_78895741insT	ENST00000546865.1	-	0	85																											cctcctcccccatctcctcctc	0.371													?|-|T|unsure	1663	0.332069	0.5038	0.2205	5008	,	,		20186	0.4137		0.1859	False		,,,				2504	0.2454					ENST00000546865.1																			0																																																			0							g.chr12:78895740_78895741insT																													12.37:g.78895740_78895741insT														0	85	-									RNA	INS	ENST00000546865.1	37																																																																																						0.371	RP11-171L9.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000406852.1			5	6						5	6	---	---	---	---
MLEC	9761	broad.mit.edu	37	12	121134166	121134168	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr12:121134166_121134168delGAA	ENST00000228506.3	+	5	1125_1127	c.697_699delGAA	c.(697-699)gaadel	p.E238del	RP11-173P15.3_ENST00000541383.1_RNA|RP11-173P15.3_ENST00000535720.1_RNA|MLEC_ENST00000412616.2_In_Frame_Del_p.K159del	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN	malectin	238	Poly-Glu.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|enzyme binding (GO:0019899)	p.E233E(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						gaaagaagaggaagaagaagaag	0.458																																						ENST00000228506.3																			1	Substitution - coding silent(1)	p.E233E(1)	large_intestine(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						c.(697-699)del		malectin				4,33,4227		0,0,4,8,17,2103						1.0	1.0			129	1,29,8224		0,0,1,6,17,4103	no	codingComplex	MLEC	NM_014730.2		0,0,5,14,34,6206	A1A1,A1A2,A1R,A2A2,A2R,RR		0.3635,0.8677,0.5352				5,62,12451				SO:0001651	inframe_deletion	9761				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	carbohydrate binding	g.chr12:121134166_121134168delGAA	BC000371	CCDS9206.1	12q24.31	2013-03-06	2008-11-05	2008-11-05	ENSG00000110917	ENSG00000110917			28973	protein-coding gene	gene with protein product	"""oligosaccharyltransferase complex subunit (non-catalytic)"""	613802	"""KIAA0152"""	KIAA0152		18524852	Standard	NM_014730		Approved		uc001tyy.1	Q14165	OTTHUMG00000169187	ENST00000228506.3:c.697_699delGAA	12.37:g.121134175_121134177delGAA	ENSP00000228506:p.Glu238del					MLEC_ENST00000412616.2_In_Frame_Del_p.RK154del	p.E238del	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN			5	1125_1127	+			238			Poly-Glu.			In_Frame_Del	DEL	ENST00000228506.3	37	c.697_699delGAA	CCDS9206.1																																																																																				0.458	MLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402781.2	NM_014730		17	871						17	871	---	---	---	---
TPTE2	93492	broad.mit.edu	37	13	20041394	20041394	+	Frame_Shift_Del	DEL	A	A	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr13:20041394delA	ENST00000400230.2	-	7	527	c.483delT	c.(481-483)tttfs	p.F161fs	TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000382978.1_Intron|TPTE2_ENST00000382977.4_Frame_Shift_Del_p.F161fs|TPTE2_ENST00000382975.4_Intron			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	161					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		ACTTAATGTCAAAAAAAATGT	0.303																																						ENST00000400230.2																			0				NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(481-483)ttfs		transmembrane phosphoinositide 3-phosphatase and tensin homolog 2			,,	4,21,4229		0,0,4,1,19,2103	46.0	51.0	49.0		,,	2.4	0.0	13		49	5,25,8188		0,1,4,4,16,4084	no	codingComplex,intron,intron	TPTE2	NM_199254.2,NM_130785.3,NM_001141968.1	,,	0,1,8,5,35,6187	A1A1,A1A2,A1R,A2A2,A2R,RR		0.3651,0.5877,0.441	,,	,,	20041394	9,46,12417	2200	4283	6483	SO:0001589	frameshift_variant	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20041394delA	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.483delT	13.37:g.20041394delA	ENSP00000383089:p.Phe161fs					TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000382977.4_Frame_Shift_Del_p.F161fs|TPTE2_ENST00000382978.1_Intron|TPTE2_ENST00000382975.4_Intron|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000457266.2_Intron	p.F161fs			Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	7	527	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	161					A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Frame_Shift_Del	DEL	ENST00000400230.2	37	c.483delT	CCDS45014.1																																																																																				0.303	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		10	586						10	586	---	---	---	---
ZMYM5	9205	broad.mit.edu	37	13	20426143	20426145	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr13:20426143_20426145delCAT	ENST00000337963.4	-	3	440_442	c.176_178delATG	c.(175-180)gatgtt>gtt	p.D59del	ZMYM5_ENST00000382907.4_In_Frame_Del_p.D59del|ZMYM5_ENST00000382905.4_In_Frame_Del_p.D59del	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	59	Poly-Asp.					nucleus (GO:0005634)	zinc ion binding (GO:0008270)			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		ATAAACACAAcatcatcatcatc	0.379																																						ENST00000337963.4																			0				kidney(1)|large_intestine(5)|lung(9)	15						c.(175-180)gtt>g		zinc finger, MYM-type 5																																				SO:0001651	inframe_deletion	9205					nucleus	zinc ion binding	g.chr13:20426143_20426145delCAT	AF161535	CCDS31942.1, CCDS31943.1	13q12	2013-01-08	2005-09-12	2005-09-12	ENSG00000132950	ENSG00000132950		"""Zinc fingers, MYM type"""	13029	protein-coding gene	gene with protein product			"""zinc finger protein 237"""	ZNF237			Standard	NM_001039650		Approved	ZNF198L1, MYM	uc010tcn.1	Q9UJ78	OTTHUMG00000016504	ENST00000337963.4:c.176_178delATG	13.37:g.20426152_20426154delCAT	ENSP00000337034:p.Asp59del					ZMYM5_ENST00000382905.4_In_Frame_Del_p.DV59del|ZMYM5_ENST00000382907.4_In_Frame_Del_p.DV59del	p.DV59del	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)	3	440_442	-		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	59			Poly-Asp.		B2R6V1|Q5T6E1|Q5T6E2|Q5T6E4|Q96IY6|Q9NZY5|Q9UBW0|Q9UJ77	In_Frame_Del	DEL	ENST00000337963.4	37	c.176_178delATG																																																																																					0.379	ZMYM5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014242		13	500						13	500	---	---	---	---
EBPL	84650	broad.mit.edu	37	13	50235208	50235209	+	Frame_Shift_Ins	INS	-	-	A	rs369293935		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr13:50235208_50235209insA	ENST00000242827.6	-	4	566_567	c.516_517insT	c.(514-519)tttaacfs	p.N173fs	EBPL_ENST00000378272.5_3'UTR|EBPL_ENST00000495963.2_5'UTR|EBPL_ENST00000378270.5_Stop_Codon_Ins|EBPL_ENST00000378284.2_3'UTR	NM_032565.3	NP_115954.1	Q9BY08	EBPL_HUMAN	emopamil binding protein-like	173					sterol metabolic process (GO:0016125)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cholestenol delta-isomerase activity (GO:0047750)	p.F172fs*7(1)		endometrium(8)|kidney(6)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.06e-09)		CACACACCGTTAAAAAAAAACA	0.48																																					NSCLC(39;857 1083 36109 42364 51411)	ENST00000242827.6																			1	Deletion - Frameshift(1)	p.F172fs*7(1)	ovary(1)	endometrium(8)|kidney(6)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(514-519)ttacggfs		emopamil binding protein-like																																				SO:0001589	frameshift_variant	84650				sterol metabolic process	endoplasmic reticulum membrane|integral to membrane	cholestenol delta-isomerase activity	g.chr13:50235208_50235209insA	AF243433	CCDS9420.1, CCDS61334.1	13q12-q13	2008-02-05			ENSG00000123179	ENSG00000123179			18061	protein-coding gene	gene with protein product							Standard	NM_032565		Approved	EBRP	uc001vdg.3	Q9BY08	OTTHUMG00000016920	ENST00000242827.6:c.517dupT	13.37:g.50235217_50235217dupA	ENSP00000242827:p.Asn173fs					EBPL_ENST00000378272.5_3'UTR|EBPL_ENST00000495963.2_5'UTR|EBPL_ENST00000378270.5_Stop_Codon_Ins|EBPL_ENST00000378284.2_3'UTR	p.LR172fs	NM_032565.3	NP_115954.1	Q9BY08	EBPL_HUMAN		GBM - Glioblastoma multiforme(99;2.06e-09)	4	566_567	-		Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	172					A6NJ59|Q569H7|Q5JVN2|Q5JVN3|Q5JVN4|Q5JVN5|Q5JVN6	Frame_Shift_Ins	INS	ENST00000242827.6	37	c.516_517insT	CCDS9420.1																																																																																				0.480	EBPL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044932.2	NM_032565		8	320						8	320	---	---	---	---
LMO7	4008	broad.mit.edu	37	13	76415307	76415308	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr13:76415307_76415308delAG	ENST00000321797.8	+	21	3667_3668	c.2946_2947delAG	c.(2944-2949)gcagagfs	p.E983fs	LMO7_ENST00000465261.2_Frame_Shift_Del_p.E983fs|LMO7_ENST00000341547.4_Frame_Shift_Del_p.E934fs|LMO7_ENST00000526202.1_Frame_Shift_Del_p.E860fs|LMO7_ENST00000377534.3_Frame_Shift_Del_p.E1268fs|LMO7_ENST00000357063.3_Frame_Shift_Del_p.E1268fs			Q8WWI1	LMO7_HUMAN	LIM domain 7	1268					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AACAGGAGGCAGAGAGAGAGAA	0.386																																						ENST00000357063.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(3799-3804)gcagfs		LIM domain 7																																				SO:0001589	frameshift_variant	4008					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	g.chr13:76415307_76415308delAG	AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"""F-box only protein 20"""	604362	"""LIM domain only 7"""	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000321797.8:c.2946_2947delAG	13.37:g.76415315_76415316delAG	ENSP00000317802:p.Glu983fs					LMO7_ENST00000465261.2_Frame_Shift_Del_p.AE982fs|LMO7_ENST00000377534.3_Frame_Shift_Del_p.AE1267fs|LMO7_ENST00000341547.4_Frame_Shift_Del_p.AE933fs|LMO7_ENST00000321797.8_Frame_Shift_Del_p.AE982fs|LMO7_ENST00000526202.1_Frame_Shift_Del_p.AE859fs	p.AE1267fs			Q8WWI1	LMO7_HUMAN		GBM - Glioblastoma multiforme(99;0.0109)	24	5061_5062	+		Breast(118;0.0992)	1267					E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Frame_Shift_Del	DEL	ENST00000321797.8	37	c.3801_3802delAG																																																																																					0.386	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000045301.3	NM_005358		7	426						7	426	---	---	---	---
SALL2	6297	broad.mit.edu	37	14	21991334	21991336	+	In_Frame_Del	DEL	GGT	GGT	-	rs113881459|rs569568436		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr14:21991334_21991336delGGT	ENST00000327430.3	-	2	2820_2822	c.2526_2528delACC	c.(2524-2529)ccacct>cct	p.842_843PP>P	SALL2_ENST00000450879.2_In_Frame_Del_p.705_706PP>P|SALL2_ENST00000538754.1_Intron|SALL2_ENST00000317492.5_Intron|AE000658.22_ENST00000535893.1_RNA	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	842	Poly-Pro.				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)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		CAGGCTGTCAGGTGGTGGTGGTG	0.571																																						ENST00000327430.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43						c.(2524-2529)cct>cc		spalt-like transcription factor 2				1,4263		0,1,2131						1.2	0.7			58	6,8248		0,6,4121	no	coding	SALL2	NM_005407.1		0,7,6252	A1A1,A1R,RR		0.0727,0.0235,0.0559				7,12511				SO:0001651	inframe_deletion	6297						DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:21991334_21991336delGGT	AB002358	CCDS32045.1	14q11.1-q12.1	2013-10-17	2013-10-17		ENSG00000165821	ENSG00000165821		"""Zinc fingers, C2H2-type"""	10526	protein-coding gene	gene with protein product		602219	"""sal (Drosophila)-like 2"", ""sal-like 2 (Drosophila)"""			8975705	Standard	XM_005267983		Approved	KIAA0360, Hsal2, ZNF795	uc001wbe.3	Q9Y467	OTTHUMG00000168826	ENST00000327430.3:c.2526_2528delACC	14.37:g.21991343_21991345delGGT	ENSP00000333537:p.Pro843del					SALL2_ENST00000317492.5_Intron|SALL2_ENST00000450879.2_In_Frame_Del_p.PP705del|SALL2_ENST00000538754.1_Intron	p.PP842del	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN		GBM - Glioblastoma multiforme(265;0.0151)	2	2820_2822	-	all_cancers(95;0.000662)		842			Poly-Pro.		B2RMX6|B9EGK8|Q8N656|Q9Y4G1	In_Frame_Del	DEL	ENST00000327430.3	37	c.2526_2528delACC	CCDS32045.1																																																																																				0.571	SALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401242.1	NM_005407		9	583						9	583	---	---	---	---
TRAV9-2	28677	broad.mit.edu	37	14	22409517	22409518	+	RNA	INS	-	-	TC	rs541324735|rs57759840|rs150394812		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr14:22409517_22409518insTC	ENST00000390441.2	+	0	102									T cell receptor alpha variable 9-2																		GGCTAAACAGAtctctctctct	0.411																																						ENST00000390441.2																			0																																																			0							g.chr14:22409517_22409518insTC	AE000659		14q11.2	2012-02-07			ENSG00000211793	ENSG00000211793		"""T cell receptors / TRA locus"""	12154	other	T cell receptor gene						8188290	Standard	NG_001332		Approved				OTTHUMG00000170637		14.37:g.22409526_22409527dupTC														0	102	+									RNA	INS	ENST00000390441.2	37																																																																																						0.411	TRAV9-2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000409885.1	NG_001332		14	74						14	74	---	---	---	---
LRP10	26020	broad.mit.edu	37	14	23341527	23341529	+	In_Frame_Del	DEL	CCT	CCT	-	rs528863117		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	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			8	451						8	451	---	---	---	---
FANCM	57697	broad.mit.edu	37	14	45642288	45642289	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr14:45642288_45642289delCT	ENST00000267430.5	+	13	2276_2277	c.2191_2192delCT	c.(2191-2193)ctcfs	p.L731fs	FANCM_ENST00000542564.2_Frame_Shift_Del_p.L705fs	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	731					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AATTCATCAACTCTCTCTCTCT	0.347								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000267430.5																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						c.(2191-2193)cfs	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group M																																				SO:0001589	frameshift_variant	57697	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	g.chr14:45642288_45642289delCT	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.2191_2192delCT	14.37:g.45642298_45642299delCT	ENSP00000267430:p.Leu731fs					FANCM_ENST00000542564.2_Frame_Shift_Del_p.L705fs	p.L731fs	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN			13	2276_2277	+			731					B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Frame_Shift_Del	DEL	ENST00000267430.5	37	c.2191_2192delCT	CCDS32070.1																																																																																				0.347	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		8	741						8	741	---	---	---	---
KCNH5	27133	broad.mit.edu	37	14	63174303	63174303	+	Frame_Shift_Del	DEL	G	G	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr14:63174303delG	ENST00000322893.7	-	11	3158	c.2890delC	c.(2890-2892)cagfs	p.Q964fs	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	964					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CATGGTATCTGGGGGGGTACT	0.393																																						ENST00000322893.7																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99						c.(2890-2892)agfs		potassium voltage-gated channel, subfamily H (eag-related), member 5							110.0	126.0	120.0					14																	63174303		2203	4300	6503	SO:0001589	frameshift_variant	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63174303delG	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.2890delC	14.37:g.63174303delG	ENSP00000321427:p.Gln964fs					KCNH5_ENST00000420622.2_3'UTR	p.Q964fs	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	11	3158	-			964					C9JP98	Frame_Shift_Del	DEL	ENST00000322893.7	37	c.2890delC	CCDS9756.1																																																																																				0.393	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		8	1198						8	1198	---	---	---	---
PCNX	22990	broad.mit.edu	37	14	71444749	71444749	+	Frame_Shift_Del	DEL	A	A	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr14:71444749delA	ENST00000304743.2	+	6	2141	c.1695delA	c.(1693-1695)ggafs	p.G565fs	PCNX_ENST00000238570.5_Frame_Shift_Del_p.G565fs|PCNX_ENST00000439984.3_Frame_Shift_Del_p.G565fs	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	565						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GACGCACAGGAAAAAAACGGG	0.473																																						ENST00000304743.2																			0				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87						c.(1693-1695)ggfs		pecanex homolog (Drosophila)							102.0	102.0	102.0					14																	71444749		2203	4300	6503	SO:0001589	frameshift_variant	22990					integral to membrane		g.chr14:71444749delA	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.1695delA	14.37:g.71444749delA	ENSP00000304192:p.Gly565fs					PCNX_ENST00000238570.5_Frame_Shift_Del_p.G565fs|PCNX_ENST00000439984.3_Frame_Shift_Del_p.G565fs	p.G565fs	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	6	2141	+			565					B2RTR6|O94897|Q96AI7|Q9Y2J9	Frame_Shift_Del	DEL	ENST00000304743.2	37	c.1695delA	CCDS9806.1																																																																																				0.473	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		7	883						7	883	---	---	---	---
VRTN	55237	broad.mit.edu	37	14	74824463	74824463	+	Frame_Shift_Del	DEL	G	G	-	rs201579420		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr14:74824463delG	ENST00000256362.4	+	2	1218	c.977delG	c.(976-978)cggfs	p.R326fs		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	326					transposition, DNA-mediated (GO:0006313)		sequence-specific DNA binding (GO:0043565)|transposase activity (GO:0004803)	p.V329fs*25(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						AGCTTCCACCGGGGGGGCGTC	0.642																																						ENST00000256362.4																			1	Insertion - Frameshift(1)	p.V329fs*25(1)	ovary(1)	NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						c.(976-978)cgfs		vertebrae development associated							51.0	57.0	55.0					14																	74824463		2203	4300	6503	SO:0001589	frameshift_variant	55237				transposition, DNA-mediated		DNA binding|transposase activity	g.chr14:74824463delG	AK001673	CCDS9830.1	14q24.2	2012-12-07	2012-12-07	2010-10-20	ENSG00000133980	ENSG00000133980			20223	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 115"", ""vertebrae development homolog (pig)"""	C14orf115		21232157	Standard	NM_018228		Approved	FLJ10811, vertnin	uc001xpw.4	Q9H8Y1	OTTHUMG00000171208	ENST00000256362.4:c.977delG	14.37:g.74824463delG	ENSP00000256362:p.Arg326fs						p.R326fs	NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN			2	1218	+			326					Q9NVC7	Frame_Shift_Del	DEL	ENST00000256362.4	37	c.977delG	CCDS9830.1																																																																																				0.642	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412339.1	NM_018228		7	640						7	640	---	---	---	---
IGHV3-21	28444	broad.mit.edu	37	14	106691799	106691801	+	RNA	DEL	ACT	ACT	-	rs553767931|rs571911882	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr14:106691799_106691801delACT	ENST00000390607.2	-	0	301_303									immunoglobulin heavy variable 3-21																		AGTATATGTAACTACTACTACTA	0.517																																						ENST00000390607.2																			0																																																			0							g.chr14:106691799_106691801delACT	Z14073		14q32.33	2012-02-08			ENSG00000211947	ENSG00000211947		"""Immunoglobulins / IGH locus"""	5586	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152279		14.37:g.106691808_106691810delACT														0	301_303	-									RNA	DEL	ENST00000390607.2	37																																																																																						0.517	IGHV3-21-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325667.1	NG_001019		7	1301						7	1301	---	---	---	---
GOLGA8DP	100132979	broad.mit.edu	37	15	22709286	22709288	+	RNA	DEL	AAG	AAG	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr15:22709286_22709288delAAG	ENST00000314246.8	-	0	1157				RN7SL545P_ENST00000495815.2_RNA			Q0D2H9	GOG8D_HUMAN	golgin A8 family, member D, pseudogene							Golgi apparatus (GO:0005794)											CCAaaaaaaaaagaaaagaaaag	0.517																																						ENST00000314246.8																			0																																																			0							g.chr15:22709286_22709288delAAG			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.22709286_22709288delAAG														0	1157	-									RNA	DEL	ENST00000314246.8	37																																																																																						0.517	GOLGA8DP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415613.1	NR_027407		13	454						13	454	---	---	---	---
HERC2	8924	broad.mit.edu	37	15	28518115	28518115	+	Frame_Shift_Del	DEL	C	C	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr15:28518115delC	ENST00000261609.7	-	8	944	c.836delG	c.(835-837)ggafs	p.G279fs		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.G279V(1)|p.G279fs*25(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GGGGATGCTTCCTGGCCCTTT	0.592																																						ENST00000261609.7																			2	Substitution - Missense(1)|Deletion - Frameshift(1)	p.G279V(1)|p.G279fs*25(1)	autonomic_ganglia(1)|breast(1)	NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(835-837)gafs		HECT and RLD domain containing E3 ubiquitin protein ligase 2							50.0	48.0	49.0					15																	28518115		2203	4300	6503	SO:0001589	frameshift_variant	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28518115delC	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.836delG	15.37:g.28518115delC	ENSP00000261609:p.Gly279fs						p.G279fs	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	8	944	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	279						Frame_Shift_Del	DEL	ENST00000261609.7	37	c.836delG	CCDS10021.1																																																																																				0.592	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		24	329						24	329	---	---	---	---
SPATA5L1	79029	broad.mit.edu	37	15	45710840	45710841	+	Frame_Shift_Ins	INS	-	-	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr15:45710840_45710841insT	ENST00000305560.6	+	7	2153_2154	c.2054_2055insT	c.(2053-2058)tgttttfs	p.CF685fs	SPATA5L1_ENST00000533841.1_3'UTR	NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN	spermatogenesis associated 5-like 1	685						cytoplasm (GO:0005737)	ATP binding (GO:0005524)			kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		GCAGAAACCTGTTTTTTTTCTG	0.361																																						ENST00000305560.6																			0				kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						c.(2053-2055)tttfs		spermatogenesis associated 5-like 1																																				SO:0001589	frameshift_variant	79029					cytoplasm	ATP binding|nucleoside-triphosphatase activity	g.chr15:45710840_45710841insT	AK023232	CCDS10123.1	15q15.1	2010-04-21			ENSG00000171763	ENSG00000171763		"""ATPases / AAA-type"""	28762	protein-coding gene	gene with protein product						12477932	Standard	NM_024063		Approved	MGC5347, FLJ12286	uc001zve.3	Q9BVQ7	OTTHUMG00000131425	ENST00000305560.6:c.2062dupT	15.37:g.45710848_45710848dupT	ENSP00000305494:p.Cys685fs					SPATA5L1_ENST00000533841.1_3'UTR	p.F685fs	NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)	7	2153_2154	+		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)	685					C9JHR5|Q9H8W7|Q9HA41	Frame_Shift_Ins	INS	ENST00000305560.6	37	c.2054_2055insT	CCDS10123.1																																																																																				0.361	SPATA5L1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000254218.1	NM_024063		7	680						7	680	---	---	---	---
FAM63B	54629	broad.mit.edu	37	15	59144132	59144134	+	In_Frame_Del	DEL	GCT	GCT	-	rs369163190		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr15:59144132_59144134delGCT	ENST00000559228.1	+	8	1787_1789	c.1705_1707delGCT	c.(1705-1707)gctdel	p.A574del	FAM63B_ENST00000450403.2_In_Frame_Del_p.A574del			Q8NBR6	FA63B_HUMAN	family with sequence similarity 63, member B	574	Gln-rich.									central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						ACAAGCAGCAGCTGCTGCTGCTG	0.468																																						ENST00000559228.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(1705-1707)del		family with sequence similarity 63, member B																																				SO:0001651	inframe_deletion	54629							g.chr15:59144132_59144134delGCT	AK075319	CCDS42046.1, CCDS45268.1	15q21.3	2005-08-09							26954	protein-coding gene	gene with protein product						10574461	Standard	NM_001040450		Approved	KIAA1164	uc002afj.3	Q8NBR6		ENST00000559228.1:c.1705_1707delGCT	15.37:g.59144141_59144143delGCT	ENSP00000452885:p.Ala574del					FAM63B_ENST00000450403.2_In_Frame_Del_p.A574del	p.A574del			Q8NBR6	FA63B_HUMAN			8	1787_1789	+			574			Gln-rich.		B2RTT8|Q9ULQ6	In_Frame_Del	DEL	ENST00000559228.1	37	c.1705_1707delGCT	CCDS42046.1																																																																																				0.468	FAM63B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416230.1	NM_019092		7	519						7	519	---	---	---	---
AGBL1	123624	broad.mit.edu	37	15	87531267	87531267	+	Frame_Shift_Del	DEL	T	T	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr15:87531267delT	ENST00000441037.2	+	23	3228	c.3133delT	c.(3133-3135)tttfs	p.F1046fs	AGBL1_ENST00000389298.3_Frame_Shift_Del_p.F777fs|AGBL1_ENST00000421325.2_Frame_Shift_Del_p.F1046fs|RP11-133L19.1_ENST00000558587.1_RNA	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	1046			Missing (in FECD8; enriched in the nucleus, decreased TCF4-binding). {ECO:0000269|PubMed:24094747}.		C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						tgcttaccacttttttgccat	0.388																																						ENST00000441037.2																			0				NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						c.(3133-3135)ttfs		ATP/GTP binding protein-like 1							270.0	255.0	260.0					15																	87531267		1855	4084	5939	SO:0001589	frameshift_variant	123624				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr15:87531267delT	AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 4"""	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.3133delT	15.37:g.87531267delT	ENSP00000413001:p.Phe1046fs					AGBL1_ENST00000421325.2_Frame_Shift_Del_p.F1046fs|RP11-133L19.1_ENST00000558587.1_RNA|AGBL1_ENST00000389298.3_Frame_Shift_Del_p.F777fs	p.F1046fs	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN			23	3228	+			1046					A1A4X5|A6NJH6|C9JHL5	Frame_Shift_Del	DEL	ENST00000441037.2	37	c.3133delT	CCDS58398.1																																																																																				0.388	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336		7	1106						7	1106	---	---	---	---
VPS33B	26276	broad.mit.edu	37	15	91550236	91550238	+	In_Frame_Del	DEL	TCC	TCC	-	rs147271815		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr15:91550236_91550238delTCC	ENST00000333371.3	-	9	995_997	c.642_644delGGA	c.(640-645)gaggat>gat	p.E214del	VPS33B_ENST00000535906.1_In_Frame_Del_p.E187del|VPS33B_ENST00000535843.1_In_Frame_Del_p.E123del	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_ENST00000535906.1_In_Frame_Del_p.ED187del|VPS33B_ENST00000535843.1_In_Frame_Del_p.ED123del	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	696						8	696	---	---	---	---
EME2	197342	broad.mit.edu	37	16	1824298	1824300	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr16:1824298_1824300delTGC	ENST00000568449.1	+	3	443_445	c.422_424delTGC	c.(421-426)ttgctg>ttg	p.141_142LL>L	MRPS34_ENST00000177742.3_5'Flank|NME3_ENST00000563498.1_5'Flank|NME3_ENST00000219302.3_5'Flank|MRPS34_ENST00000397375.2_5'Flank|EME2_ENST00000307394.7_In_Frame_Del_p.141_142LL>L	NM_001257370.1	NP_001244299.1	A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2	141					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)			central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						GAACAGGAATTGCTGCTGCTGCT	0.655								Direct reversal of damage;Homologous recombination																														ENST00000307394.7																			0				central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						c.(421-426)ttg>t	Direct reversal of damage;Homologous recombination	essential meiotic structure-specific endonuclease subunit 2																																				SO:0001651	inframe_deletion	197342				DNA recombination|DNA repair	nucleus	DNA binding|endonuclease activity	g.chr16:1824298_1824300delTGC	AK074080	CCDS58404.1	16p13.3	2013-07-03	2013-07-03			ENSG00000197774			27289	protein-coding gene	gene with protein product	"""SLX2 structure-specific endonuclease subunit homolog B (S. cerevisiae)"""	610886	"""essential meiotic endonuclease 1 homolog 2 (S. pombe)"""			12721304	Standard	NM_001257370		Approved	FLJ00151, SLX2B	uc010brw.1	A4GXA9		ENST00000568449.1:c.422_424delTGC	16.37:g.1824307_1824309delTGC	ENSP00000457353:p.Leu145del					EME2_ENST00000568449.1_In_Frame_Del_p.LL143del	p.LL143del			A4GXA9	EME2_HUMAN			3	422_424	+			143					Q8TEP2|Q96RY3	In_Frame_Del	DEL	ENST00000568449.1	37	c.422_424delTGC	CCDS58404.1																																																																																				0.655	EME2-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433185.2	NM_001010865		7	740						7	740	---	---	---	---
RP11-420N3.2	0	broad.mit.edu	37	16	5313074	5313076	+	RNA	DEL	GGT	GGT	-	rs542176654		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr16:5313074_5313076delGGT	ENST00000569895.1	+	0	304				AC074051.1_ENST00000408882.1_RNA																							GCAGggtgacggtggtggtggtg	0.483																																						ENST00000569895.1																			0																																																			0							g.chr16:5313074_5313076delGGT																													16.37:g.5313083_5313085delGGT														0	304	+									RNA	DEL	ENST00000569895.1	37																																																																																						0.483	RP11-420N3.2-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000435404.2			9	193						9	193	---	---	---	---
TAOK2	9344	broad.mit.edu	37	16	29998498	29998500	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr16:29998498_29998500delCTG	ENST00000308893.4	+	16	3948_3950	c.2905_2907delCTG	c.(2905-2907)ctgdel	p.L974del	TAOK2_ENST00000416441.2_In_Frame_Del_p.L801del|TAOK2_ENST00000279394.3_Intron|TAOK2_ENST00000543033.1_In_Frame_Del_p.L861del	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	974	Leu-rich.				actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CCTGCCCCTCCTGCTGCTGCTGC	0.709																																						ENST00000308893.4																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						c.(2905-2907)del		TAO kinase 2			,	25,3845		3,19,1913					,	-6.7	0.0			32	41,7581		7,27,3777	no	coding,intron	TAOK2	NM_016151.2,NM_004783.2	,	10,46,5690	A1A1,A1R,RR		0.5379,0.646,0.5743	,	,		66,11426				SO:0001651	inframe_deletion	9344				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr16:29998498_29998500delCTG	AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.2905_2907delCTG	16.37:g.29998507_29998509delCTG	ENSP00000310094:p.Leu974del					TAOK2_ENST00000279394.3_Intron|TAOK2_ENST00000543033.1_In_Frame_Del_p.L861del|TAOK2_ENST00000416441.2_In_Frame_Del_p.L801del	p.L974del	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN			16	3948_3950	+			974			Leu-rich.		A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	In_Frame_Del	DEL	ENST00000308893.4	37	c.2905_2907delCTG	CCDS10663.1																																																																																				0.709	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151		7	399						7	399	---	---	---	---
DRC7	84229	broad.mit.edu	37	16	57731885	57731887	+	In_Frame_Del	DEL	GGA	GGA	-	rs143282103		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr16:57731885_57731887delGGA	ENST00000360716.3	+	3	245_247	c.24_26delGGA	c.(22-27)gtggag>gtg	p.E13del	CCDC135_ENST00000394337.4_In_Frame_Del_p.E13del|CCDC135_ENST00000336825.8_In_Frame_Del_p.E13del|RP11-405F3.4_ENST00000563062.1_RNA			Q8IY82	CC135_HUMAN		13					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						Gggagaaggtggaggaggaggag	0.591																																						ENST00000360716.3																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						c.(22-27)gtg>gt		coiled-coil domain containing 135				27,4237		4,19,2109						4.4	1.0		dbSNP_134	66	47,8207		1,45,4081	no	coding	CCDC135	NM_032269.5		5,64,6190	A1A1,A1R,RR		0.5694,0.6332,0.5911				74,12444				SO:0001651	inframe_deletion	84229					cytoplasm		g.chr16:57731885_57731887delGGA																												ENST00000360716.3:c.24_26delGGA	16.37:g.57731894_57731896delGGA	ENSP00000353942:p.Glu13del					RP11-405F3.4_ENST00000563062.1_RNA|CCDC135_ENST00000336825.8_In_Frame_Del_p.VE8del|CCDC135_ENST00000394337.4_In_Frame_Del_p.VE8del	p.VE8del			Q8IY82	CC135_HUMAN			3	245_247	+			8					A8K943|Q8NAA0|Q9H080	In_Frame_Del	DEL	ENST00000360716.3	37	c.24_26delGGA	CCDS10787.1																																																																																				0.591	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2			8	419						8	419	---	---	---	---
NFAT5	10725	broad.mit.edu	37	16	69726420	69726422	+	In_Frame_Del	DEL	CAG	CAG	-	rs369235958		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr16:69726420_69726422delCAG	ENST00000354436.2	+	12	2956_2958	c.2638_2640delCAG	c.(2638-2640)cagdel	p.Q888del	NFAT5_ENST00000432919.1_In_Frame_Del_p.Q906del|NFAT5_ENST00000566899.1_In_Frame_Del_p.Q812del|NFAT5_ENST00000567239.1_In_Frame_Del_p.Q905del|NFAT5_ENST00000349945.1_In_Frame_Del_p.Q812del|NFAT5_ENST00000393742.2_In_Frame_Del_p.Q812del	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	888	Poly-Gln.				cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q804Q(1)|p.Q898Q(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						ATCTAATcaacagcagcagcagc	0.473																																						ENST00000349945.1																			2	Substitution - coding silent(2)	p.Q804Q(1)|p.Q898Q(1)	endometrium(2)	NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(2410-2412)del		nuclear factor of activated T-cells 5, tonicity-responsive																																				SO:0001651	inframe_deletion	10725				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:69726420_69726422delCAG	AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"""Nuclear factor of activated T-cells"""	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.2638_2640delCAG	16.37:g.69726429_69726431delCAG	ENSP00000346420:p.Gln888del					NFAT5_ENST00000567239.1_In_Frame_Del_p.Q905del|NFAT5_ENST00000393742.2_In_Frame_Del_p.Q812del|NFAT5_ENST00000566899.1_In_Frame_Del_p.Q812del|NFAT5_ENST00000354436.2_In_Frame_Del_p.Q888del|NFAT5_ENST00000432919.1_In_Frame_Del_p.Q906del	p.Q812del	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN			14	3962_3964	+			888					A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	In_Frame_Del	DEL	ENST00000354436.2	37	c.2410_2412delCAG	CCDS10881.1																																																																																				0.473	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714		7	341						7	341	---	---	---	---
NOB1	28987	broad.mit.edu	37	16	69782978	69782980	+	In_Frame_Del	DEL	TCC	TCC	-	rs528891272	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr16:69782978_69782980delTCC	ENST00000268802.5	-	6	596_598	c.567_569delGGA	c.(565-570)gaggaa>gaa	p.189_190EE>E		NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN	NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)	189	Poly-Glu.				visual perception (GO:0007601)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CCCGTTTTCTTCCTCCTCCTCCT	0.522																																						ENST00000268802.5																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(565-570)gaa>ga		NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)																																				SO:0001651	inframe_deletion	28987					nucleus	metal ion binding|protein binding	g.chr16:69782978_69782980delTCC	AB026125	CCDS10884.1	16q22.1	2008-02-05	2006-04-20	2006-04-20	ENSG00000141101	ENSG00000141101			29540	protein-coding gene	gene with protein product	"""nin one binding protein"""	613586	"""PSMD8 binding protein 1"""	PSMD8BP1		16172919	Standard	NM_014062		Approved	NOB1P, ART-4, MST158	uc002exs.4	Q9ULX3	OTTHUMG00000137576	ENST00000268802.5:c.567_569delGGA	16.37:g.69782987_69782989delTCC	ENSP00000268802:p.Glu191del						p.EE189del	NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN			6	596_598	-			189			Poly-Glu.		Q7L6B7|Q7M4M4|Q7Z4B5|Q9NWB0	In_Frame_Del	DEL	ENST00000268802.5	37	c.567_569delGGA	CCDS10884.1																																																																																				0.522	NOB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268958.2	NM_014062		11	415						11	415	---	---	---	---
RP11-252A24.2	0	broad.mit.edu	37	16	74394379	74394380	+	RNA	INS	-	-	A	rs142790741	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr16:74394379_74394380insA	ENST00000429810.2	-	0	435																											TAGTCATCCTTAAACAAAATTC	0.347													|||unknown(NO_COVERAGE)	1085	0.216653	0.2474	0.1888	5008	,	,		27432	0.1379		0.2604	False		,,,				2504	0.2311					ENST00000429810.2																			0																																																			0							g.chr16:74394379_74394380insA																													16.37:g.74394382_74394382dupA														0	435	-									RNA	INS	ENST00000429810.2	37																																																																																						0.347	RP11-252A24.2-003	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000434683.1			7	15						7	15	---	---	---	---
RP11-150D5.2	0	broad.mit.edu	37	16	76268905	76268905	+	lincRNA	DEL	T	T	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr16:76268905delT	ENST00000568714.1	-	0	135																											ttttcttttctttttttttGC	0.418																																						ENST00000568714.1																			0																																																			0							g.chr16:76268905delT																													16.37:g.76268905delT														0	135	-									RNA	DEL	ENST00000568714.1	37																																																																																						0.418	RP11-150D5.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000434958.1			10	261						10	261	---	---	---	---
TCF25	22980	broad.mit.edu	37	16	89951019	89951020	+	Frame_Shift_Ins	INS	-	-	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr16:89951019_89951020insA	ENST00000263346.8	+	3	440_441	c.384_385insA	c.(385-387)aaafs	p.K129fs	TCF25_ENST00000563406.1_3'UTR|TCF25_ENST00000263347.7_5'Flank	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	129					heart development (GO:0007507)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		TCCGGAAGAAGAAAAAAAAACA	0.446																																						ENST00000263346.8																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18						c.(382-387)aaaaaafs		transcription factor 25 (basic helix-loop-helix)																																				SO:0001589	frameshift_variant	22980				heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr16:89951019_89951020insA	AF322111	CCDS10987.1	16q24.3	2008-02-05			ENSG00000141002	ENSG00000141002			29181	protein-coding gene	gene with protein product		612326				12107429, 16574069	Standard	NM_014972		Approved	Nulp1, KIAA1049	uc002fpb.2	Q9BQ70	OTTHUMG00000138986	ENST00000263346.8:c.393dupA	16.37:g.89951028_89951028dupA	ENSP00000263346:p.Lys129fs					TCF25_ENST00000563406.1_3'UTR	p.KK128fs	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0288)	3	440_441	+		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)	128					Q2MK75|Q9UPV3	Frame_Shift_Ins	INS	ENST00000263346.8	37	c.384_385insA	CCDS10987.1																																																																																				0.446	TCF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272875.2	NM_014972		9	193						9	193	---	---	---	---
CHRNB1	1140	broad.mit.edu	37	17	7357666	7357668	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr17:7357666_7357668delCTG	ENST00000306071.2	+	8	938_940	c.871_873delCTG	c.(871-873)ctgdel	p.L294del	CHRNB1_ENST00000536404.2_In_Frame_Del_p.L222del|CHRNB1_ENST00000576360.1_Intron|CHRNB1_ENST00000575379.1_5'Flank	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN	cholinergic receptor, nicotinic, beta 1 (muscle)	294					behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|neurological system process (GO:0050877)|neuromuscular synaptic transmission (GO:0007274)|postsynaptic membrane organization (GO:0001941)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)|ligand-gated ion channel activity (GO:0015276)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23		Prostate(122;0.157)			Galantamine(DB00674)	TACTGTGTTCCTGCTGCTGCTGG	0.498																																						ENST00000306071.2																			0				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23						c.(871-873)del		cholinergic receptor, nicotinic, beta 1 (muscle)																																				SO:0001651	inframe_deletion	1140				behavioral response to nicotine|muscle contraction|muscle fiber development|neuromuscular synaptic transmission|postsynaptic membrane organization|regulation of membrane potential|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine binding|receptor activity	g.chr17:7357666_7357668delCTG	X14830	CCDS11106.1	17p13.1	2012-02-11	2006-02-01		ENSG00000170175	ENSG00000170175		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1961	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 1 (muscle)"""	100710	"""cholinergic receptor, nicotinic, beta polypeptide 1 (muscle)"""	CHRNB			Standard	NM_000747		Approved		uc002ghb.3	P11230	OTTHUMG00000108139	ENST00000306071.2:c.871_873delCTG	17.37:g.7357675_7357677delCTG	ENSP00000304290:p.Leu294del					CHRNB1_ENST00000536404.2_In_Frame_Del_p.L222del|CHRNB1_ENST00000576360.1_Intron	p.L294del	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN			8	938_940	+		Prostate(122;0.157)	294					B7Z5H1|Q8IZ46|Q96FB8	In_Frame_Del	DEL	ENST00000306071.2	37	c.871_873delCTG	CCDS11106.1																																																																																				0.498	CHRNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226942.3			10	770						10	770	---	---	---	---
CHD3	1107	broad.mit.edu	37	17	7801857	7801859	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr17:7801857_7801859delAAG	ENST00000330494.7	+	13	2245_2247	c.2095_2097delAAG	c.(2095-2097)aagdel	p.K703del	CHD3_ENST00000380358.4_In_Frame_Del_p.K762del|CHD3_ENST00000358181.4_In_Frame_Del_p.K703del	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	703	Poly-Lys.				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)			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)				CCGCAAGTATAAGAAGAAGAAGA	0.488																																						ENST00000380358.4																			0				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.(2272-2274)del		chromodomain helicase DNA binding protein 3			,,	1,4263		0,1,2131					,,	-0.1	1.0			78	5,8249		0,5,4122	no	coding,coding,coding	CHD3	NM_005852.3,NM_001005273.2,NM_001005271.2	,,	0,6,6253	A1A1,A1R,RR		0.0606,0.0235,0.0479	,,	,,		6,12512				SO:0001651	inframe_deletion	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.chr17:7801857_7801859delAAG	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.2095_2097delAAG	17.37:g.7801866_7801868delAAG	ENSP00000332628:p.Lys703del					CHD3_ENST00000358181.4_In_Frame_Del_p.K703del|CHD3_ENST00000330494.7_In_Frame_Del_p.K703del	p.K762del	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN			13	2273_2275	+		Prostate(122;0.202)	703			Helicase ATP-binding.		D3DTQ9|E9PG89|Q9Y4I0	In_Frame_Del	DEL	ENST00000330494.7	37	c.2272_2274delAAG	CCDS32554.1																																																																																				0.488	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		7	315						7	315	---	---	---	---
RAI1	10743	broad.mit.edu	37	17	17699993	17699995	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr17:17699993_17699995delGCA	ENST00000353383.1	+	3	4200_4202	c.3731_3733delGCA	c.(3730-3735)cgcagc>cgc	p.S1249del	RAI1_ENST00000261641.6_In_Frame_Del_p.S1249del	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1249	Poly-Ser.				circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		TTGCGGAGCCGCAGCAGCAGCAG	0.626																																						ENST00000353383.1																			0				breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48						c.(3730-3735)cgc>c		retinoic acid induced 1																																				SO:0001651	inframe_deletion	10743					cytoplasm|nucleus	zinc ion binding	g.chr17:17699993_17699995delGCA	AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"""Smith-Magenis syndrome chromosome region"""	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.3731_3733delGCA	17.37:g.17700002_17700004delGCA	ENSP00000323074:p.Ser1249del					RAI1_ENST00000261641.6_In_Frame_Del_p.RS1244del	p.RS1244del	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN		READ - Rectum adenocarcinoma(1115;0.0276)	3	4200_4202	+			1244			Poly-Ser.		Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	In_Frame_Del	DEL	ENST00000353383.1	37	c.3731_3733delGCA	CCDS11188.1																																																																																				0.626	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665		7	187						7	187	---	---	---	---
CCDC144B	284047	broad.mit.edu	37	17	18498497	18498498	+	RNA	INS	-	-	A	rs397961350|rs59933375|rs80104188	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr17:18498497_18498498insA	ENST00000442583.1	-	0	749							Q3MJ40	C144B_HUMAN	coiled-coil domain containing 144B (pseudogene)											NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(6)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	36						CTGCAGGCCTGAAAAAAAAAAA	0.243														2618	0.522764	0.528	0.4683	5008	,	,		15585	0.6756		0.4294	False		,,,				2504	0.4928					ENST00000442583.1																			0				NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(6)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	36																																														0							g.chr17:18498497_18498498insA	AK093811		17p11.2	2012-11-19	2011-09-02		ENSG00000154874	ENSG00000154874			26704	pseudogene	pseudogene			"""coiled-coil domain containing 144B"""			11997339	Standard	NR_036647		Approved	FLJ36492	uc002guc.2	Q3MJ40	OTTHUMG00000059531		17.37:g.18498508_18498508dupA														0	749	-								Q6P5Q3|Q8N200	RNA	INS	ENST00000442583.1	37																																																																																						0.243	CCDC144B-006	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000132102.1	NM_182568		7	36						7	36	---	---	---	---
KLHL11	55175	broad.mit.edu	37	17	40011270	40011271	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr17:40011270_40011271delTC	ENST00000319121.3	-	2	908_909	c.848_849delGA	c.(847-849)agafs	p.R283fs		NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN	kelch-like family member 11	283	BACK.									NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				CTTCAAAGTATCTCTCTCTCTC	0.401																																						ENST00000319121.3																			0				NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(847-849)afs		kelch-like family member 11																																				SO:0001589	frameshift_variant	55175					extracellular region		g.chr17:40011270_40011271delTC		CCDS11411.1	17q21	2013-01-30	2013-01-30		ENSG00000178502	ENSG00000178502		"""Kelch-like"", ""BTB/POZ domain containing"""	19008	protein-coding gene	gene with protein product			"""kelch-like 11 (Drosophila)"""				Standard	NM_018143		Approved	FLJ10572	uc002hyf.1	Q9NVR0	OTTHUMG00000133506	ENST00000319121.3:c.848_849delGA	17.37:g.40011280_40011281delTC	ENSP00000314608:p.Arg283fs						p.R283fs	NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN			2	908_909	-		Breast(137;0.00156)	283			BACK.			Frame_Shift_Del	DEL	ENST00000319121.3	37	c.848_849delGA	CCDS11411.1																																																																																				0.401	KLHL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257464.2	NM_018143		9	522						9	522	---	---	---	---
LOC100294341	100294341	broad.mit.edu	37	17	43596433	43596433	+	RNA	DEL	T	T	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr17:43596433delT	ENST00000253803.2	+	0	267																											TTTTTGCCGGTTTTGGCCTAC	0.478																																						ENST00000253803.2																			0																																																			0							g.chr17:43596433delT																													17.37:g.43596433delT														0	267	+									RNA	DEL	ENST00000253803.2	37																																																																																						0.478	RP11-798G7.5-201	KNOWN	basic	antisense	antisense				7	3660						7	3660	---	---	---	---
RP11-156P1.3	0	broad.mit.edu	37	17	45128638	45128638	+	RNA	DEL	G	G	-	rs374777142|rs552285972	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr17:45128638delG	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							Gtttttttttgttttgttttt	0.323																																						ENST00000575173.1																			0																																																			0							g.chr17:45128638delG																													17.37:g.45128638delG														0	418	-									RNA	DEL	ENST00000575173.1	37																																																																																						0.323	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			7	532						7	532	---	---	---	---
DOCK6	57572	broad.mit.edu	37	19	11326596	11326596	+	Frame_Shift_Del	DEL	T	T	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:11326596delT	ENST00000294618.7	-	31	3913	c.3902delA	c.(3901-3903)aagfs	p.K1301fs	DOCK6_ENST00000319867.7_Frame_Shift_Del_p.K640fs|CTC-510F12.2_ENST00000588634.1_RNA	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1301					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						TTCAAAGGCCTTTTTCCCCTG	0.542																																						ENST00000294618.7																			0				breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						c.(3901-3903)agfs		dedicator of cytokinesis 6							93.0	87.0	89.0					19																	11326596		1908	4113	6021	SO:0001589	frameshift_variant	57572				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr19:11326596delT		CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.3902delA	19.37:g.11326596delT	ENSP00000294618:p.Lys1301fs					DOCK6_ENST00000319867.7_Frame_Shift_Del_p.K640fs|CTC-510F12.2_ENST00000588634.1_RNA	p.K1301fs	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN			31	3913	-			1301					A6H8X5|Q7Z7P4|Q9P2F2	Frame_Shift_Del	DEL	ENST00000294618.7	37	c.3902delA	CCDS45975.1																																																																																				0.542	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453155.1	NM_020812		9	745						9	745	---	---	---	---
NWD1	284434	broad.mit.edu	37	19	16908642	16908642	+	Frame_Shift_Del	DEL	T	T	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:16908642delT	ENST00000552788.1	+	14	3404	c.3404delT	c.(3403-3405)gttfs	p.V1135fs	NWD1_ENST00000524140.2_Frame_Shift_Del_p.V1135fs|NWD1_ENST00000523826.1_Frame_Shift_Del_p.V929fs|NWD1_ENST00000379808.3_Frame_Shift_Del_p.V1135fs|NWD1_ENST00000549814.1_Frame_Shift_Del_p.V1135fs|NWD1_ENST00000339803.6_Frame_Shift_Del_p.V1000fs			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1135							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GAGACGGCTGTTTTTGGTACT	0.552																																						ENST00000524140.2																			0				NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(3403-3405)gtfs		NACHT and WD repeat domain containing 1							301.0	275.0	284.0					19																	16908642		2203	4300	6503	SO:0001589	frameshift_variant	284434						ATP binding	g.chr19:16908642delT	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.3404delT	19.37:g.16908642delT	ENSP00000447224:p.Val1135fs					NWD1_ENST00000523826.1_Frame_Shift_Del_p.V929fs|NWD1_ENST00000379808.3_Frame_Shift_Del_p.V1135fs|NWD1_ENST00000339803.6_Frame_Shift_Del_p.V1000fs|NWD1_ENST00000552788.1_Frame_Shift_Del_p.V1135fs|NWD1_ENST00000549814.1_Frame_Shift_Del_p.V1135fs	p.V1135fs	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN			16	3822	+			1135					C9J021|Q68CT3	Frame_Shift_Del	DEL	ENST00000552788.1	37	c.3404delT																																																																																					0.552	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		7	1815						7	1815	---	---	---	---
TSHZ3	57616	broad.mit.edu	37	19	31770222	31770224	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:31770222_31770224delGCT	ENST00000240587.4	-	2	802_804	c.475_477delAGC	c.(475-477)agcdel	p.S159del		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	159	Ser-rich.				in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					Cgctgccacagctgctgctgctg	0.626																																						ENST00000240587.4																			0				breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(475-477)del		teashirt zinc finger homeobox 3																																				SO:0001651	inframe_deletion	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31770222_31770224delGCT	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.475_477delAGC	19.37:g.31770231_31770233delGCT	ENSP00000240587:p.Ser159del						p.S159del	NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN			2	802_804	-	Esophageal squamous(110;0.226)		159			Ser-rich.		Q9H0G6|Q9P254	In_Frame_Del	DEL	ENST00000240587.4	37	c.475_477delAGC	CCDS12421.2																																																																																				0.626	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		7	168						7	168	---	---	---	---
HAMP	57817	broad.mit.edu	37	19	35773520	35773522	+	In_Frame_Del	DEL	CTC	CTC	-	rs373178250		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:35773520_35773522delCTC	ENST00000598398.1	+	2	336_338	c.40_42delCTC	c.(40-42)ctcdel	p.L18del	HAMP_ENST00000222304.3_In_Frame_Del_p.L18del	NM_021175.2	NP_066998.1	P81172	HEPC_HUMAN	hepcidin antimicrobial peptide	18					cellular iron ion homeostasis (GO:0006879)|defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|immune response (GO:0006955)|killing of cells of other organism (GO:0031640)	apical cortex (GO:0045179)|extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TTGCCTCCTGCTCCTCCTCCTCC	0.64																																						ENST00000598398.1																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4						c.(40-42)del		hepcidin antimicrobial peptide																																				SO:0001651	inframe_deletion	57817				defense response to bacterium|defense response to fungus|immune response|killing of cells of other organism	extracellular region	hormone activity	g.chr19:35773520_35773522delCTC	AF309489	CCDS12454.1	19q13.1	2014-09-17				ENSG00000105697			15598	protein-coding gene	gene with protein product		606464				11034317, 11113132	Standard	NM_021175		Approved	LEAP-1, HEPC, HFE2B, LEAP1	uc002nyw.3	P81172		ENST00000598398.1:c.40_42delCTC	19.37:g.35773529_35773531delCTC	ENSP00000471894:p.Leu18del					HAMP_ENST00000222304.3_In_Frame_Del_p.L18del	p.L18del	NM_021175.2	NP_066998.1	P81172	HEPC_HUMAN	Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		2	336_338	+	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		18					Q1HE14|Q9BY68	In_Frame_Del	DEL	ENST00000598398.1	37	c.40_42delCTC	CCDS12454.1																																																																																				0.640	HAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466067.1	NM_021175		15	822						15	822	---	---	---	---
FFAR2	2867	broad.mit.edu	37	19	35940788	35940790	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:35940788_35940790delCTG	ENST00000599180.2	+	2	252_254	c.172_174delCTG	c.(172-174)ctgdel	p.L62del	FFAR2_ENST00000246549.2_In_Frame_Del_p.L62del|FFAR2_ENST00000601590.1_Intron			O15552	FFAR2_HUMAN	free fatty acid receptor 2	62					cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to fatty acid (GO:0071398)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipid storage (GO:0019915)|mucosal immune response (GO:0002385)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of interleukin-8 secretion (GO:2000484)|regulation of acute inflammatory response (GO:0002673)|regulation of peptide hormone secretion (GO:0090276)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CGACCTCCTCCTGCTGCTGCTGC	0.645																																					GBM(40;139 809 9833 23358 48736)	ENST00000599180.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22						c.(172-174)del		free fatty acid receptor 2																																				SO:0001651	inframe_deletion	2867					integral to plasma membrane	G-protein coupled receptor activity|lipid binding	g.chr19:35940788_35940790delCTG	AF024690	CCDS12461.1	19q13.1	2012-08-08	2006-02-15	2006-02-15		ENSG00000126262		"""GPCR / Class A : Fatty acid receptors"""	4501	protein-coding gene	gene with protein product		603823	"""G protein-coupled receptor 43"""	GPR43		9344866	Standard	NM_005306		Approved	FFA2R	uc010eea.3	O15552		ENST00000599180.2:c.172_174delCTG	19.37:g.35940797_35940799delCTG	ENSP00000473159:p.Leu62del					FFAR2_ENST00000601590.1_Intron|FFAR2_ENST00000246549.2_In_Frame_Del_p.L62del	p.L62del			O15552	FFAR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		2	252_254	+	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		62					B0M0J9|Q4VAZ3|Q4VAZ5|Q4VBL5	In_Frame_Del	DEL	ENST00000599180.2	37	c.172_174delCTG	CCDS12461.1																																																																																				0.645	FFAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466120.3	NM_005306		9	236						9	236	---	---	---	---
CEACAM5	1048	broad.mit.edu	37	19	42224866	42224866	+	Frame_Shift_Del	DEL	C	C	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:42224866delC	ENST00000221992.6	+	8	1910	c.1796delC	c.(1795-1797)tccfs	p.S599fs	CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000398599.4_Frame_Shift_Del_p.S598fs|CEACAM5_ENST00000405816.1_Frame_Shift_Del_p.S599fs	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	599	Ig-like 7.				homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CCCATCATTTCCCCCCCAGAC	0.547																																						ENST00000221992.6																			0				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34						c.(1795-1797)tcfs		carcinoembryonic antigen-related cell adhesion molecule 5							136.0	141.0	139.0					19																	42224866		2203	4300	6503	SO:0001589	frameshift_variant	1048					anchored to membrane|basolateral plasma membrane|integral to plasma membrane		g.chr19:42224866delC	M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1817	protein-coding gene	gene with protein product		114890		CEA			Standard	XM_005258413		Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000221992.6:c.1796delC	19.37:g.42224866delC	ENSP00000221992:p.Ser599fs					CEACAM5_ENST00000398599.4_Frame_Shift_Del_p.S598fs|CEACAM5_ENST00000405816.1_Frame_Shift_Del_p.S599fs|CEA_ENST00000598976.1_Intron	p.S599fs	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)	8	1910	+			599			Ig-like 7.		H9KVA7	Frame_Shift_Del	DEL	ENST00000221992.6	37	c.1796delC	CCDS12584.1																																																																																				0.547	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2	NM_004363		9	1079						9	1079	---	---	---	---
MAMSTR	284358	broad.mit.edu	37	19	49218105	49218106	+	Frame_Shift_Ins	INS	-	-	G	rs373516785		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:49218105_49218106insG	ENST00000318083.6	-	6	548_549	c.485_486insC	c.(484-486)ccafs	p.P162fs	MAMSTR_ENST00000356751.4_Frame_Shift_Ins_p.P59fs|MAMSTR_ENST00000419611.1_Frame_Shift_Ins_p.P59fs|MAMSTR_ENST00000377367.3_Frame_Shift_Ins_p.P59fs|MAMSTR_ENST00000594582.1_Frame_Shift_Ins_p.P59fs			Q6ZN01	MASTR_HUMAN	MEF2 activating motif and SAP domain containing transcriptional regulator	162	Pro-rich.				positive regulation of myotube differentiation (GO:0010831)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)			endometrium(1)|ovary(1)	2						CCAACTTGTGTGGGGGGGGCGA	0.569																																						ENST00000318083.6																			0				endometrium(1)|ovary(1)	2						c.(484-486)ccafs		MEF2 activating motif and SAP domain containing transcriptional regulator																																				SO:0001589	frameshift_variant	284358				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chr19:49218105_49218106insG	AK093389	CCDS12730.1, CCDS46137.1, CCDS74415.1	19q13.33	2009-07-09			ENSG00000176909	ENSG00000176909			26689	protein-coding gene	gene with protein product	"""MEF2-activating SAP transcriptional regulator"""	610349				16818234	Standard	NM_182574		Approved	MASTR, FLJ36070	uc002pkg.2	Q6ZN01		ENST00000318083.6:c.486dupC	19.37:g.49218113_49218113dupG	ENSP00000324175:p.Pro162fs					MAMSTR_ENST00000594582.1_Frame_Shift_Ins_p.P59fs|MAMSTR_ENST00000419611.1_Frame_Shift_Ins_p.P59fs|MAMSTR_ENST00000377367.3_Frame_Shift_Ins_p.P59fs|MAMSTR_ENST00000356751.4_Frame_Shift_Ins_p.P59fs	p.P162fs			Q6ZN01	MASTR_HUMAN			6	548_549	-			162			Pro-rich.		B7ZKX4|Q3KQU9|Q8N9Y3	Frame_Shift_Ins	INS	ENST00000318083.6	37	c.485_486insC	CCDS46137.1																																																																																				0.569	MAMSTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466179.1	NM_182574		8	578						8	578	---	---	---	---
KLK7	5650	broad.mit.edu	37	19	51478657	51478657	+	IGR	DEL	T	T	-	rs71185783	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:51478657delT	ENST00000391807.1	-	0	1927				CTB-147C22.9_ENST00000594512.1_RNA	NM_139277.2	NP_644806.1	P49862	KLK7_HUMAN	kallikrein-related peptidase 7						epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(2)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895)		gaggggctggtggggggggtt	0.687																																						ENST00000594512.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr19:51478657delT	L33404	CCDS12812.1, CCDS59414.1	19q13.33	2011-09-07	2006-10-27			ENSG00000169035		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6368	protein-coding gene	gene with protein product		604438	"""kallikrein 7 (chymotryptic, stratum corneum)"""	PRSS6		8034709, 16800724, 16800723	Standard	NM_005046		Approved	SCCE	uc021uyj.1	P49862			19.37:g.51478657delT														0	297	+								A8K0U5|Q8N5N9|Q8NFV7	RNA	DEL	ENST00000391807.1	37		CCDS12812.1																																																																																				0.687	KLK7-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464344.1	NM_005046		3	4						3	4	---	---	---	---
SIGLEC9	27180	broad.mit.edu	37	19	51628233	51628235	+	Start_Codon_Del	DEL	TGC	TGC	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:51628233_51628235delTGC	ENST00000250360.3	+	0	69_71				SIGLEC9_ENST00000440804.3_Start_Codon_Del	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9						cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		ACCCCAGACATGCTGCTGCTGCT	0.611																																						ENST00000440804.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45								sialic acid binding Ig-like lectin 9																																				SO:0001582	initiator_codon_variant	27180				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding	g.chr19:51628233_51628235delTGC	AF135027	CCDS12825.1, CCDS56100.1	19q13.3-q13.4	2013-01-29			ENSG00000129450	ENSG00000129450		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10878	protein-coding gene	gene with protein product		605640				10903842	Standard	NM_014441		Approved	CD329	uc002pvu.3	Q9Y336			19.37:g.51628242_51628244delTGC						SIGLEC9_ENST00000250360.3_Start_Codon_Del		NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)	0	69_71	+		all_neural(266;0.0529)						Q6GTU4|Q9BYI9	Translation_Start_Site	DEL	ENST00000250360.3	37		CCDS12825.1																																																																																				0.611	SIGLEC9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464224.1	NM_014441		9	276						9	276	---	---	---	---
CNOT3	4849	broad.mit.edu	37	19	54649671	54649671	+	Frame_Shift_Del	DEL	T	T	-	rs36665	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	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_ENST00000358389.3_Frame_Shift_Del_p.P63fs|CNOT3_ENST00000221232.5_Frame_Shift_Del_p.P244fs	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		8	468						8	468	---	---	---	---
LILRB5	10990	broad.mit.edu	37	19	54754838	54754839	+	Intron	INS	-	-	G	rs373363902|rs531467777|rs527853571	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:54754838_54754839insG	ENST00000316219.5	-	13	1734				LILRB5_ENST00000450632.1_Frame_Shift_Ins_p.P599fs|LILRB5_ENST00000345866.6_Intron|CTD-2337J16.1_ENST00000595133.1_lincRNA|LILRB5_ENST00000449561.2_Intron	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5						cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTGGTGGGGGTGGGGAGGCCTG	0.604														824	0.164537	0.0938	0.1196	5008	,	,		11633	0.4206		0.1074	False		,,,				2504	0.0869					ENST00000450632.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1795-1797)cccfs		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5																																				SO:0001627	intron_variant	0				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	g.chr19:54754838_54754839insG	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.1627-42->C	19.37:g.54754842_54754842dupG						LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000316219.5_Intron	p.P599fs			O75023	LIRB5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	13	1873_1874	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		424					Q8N760	Frame_Shift_Ins	INS	ENST00000316219.5	37	c.1796_1797insC	CCDS12885.1																																																																																				0.604	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			9	159						9	159	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11038813	11038814	+	RNA	INS	-	-	T	rs144107885|rs71292114		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr21:11038813_11038814insT	ENST00000470054.1	-	0	1389_1390							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGACTGAGATGTAAGTTGTTGG	0.446																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11038813_11038814insT	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11038814_11038814dupT												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	1389_1390	-								A8K925|Q08ER0	RNA	INS	ENST00000470054.1	37																																																																																						0.446	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		8	1204						8	1204	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11085863	11085864	+	RNA	INS	-	-	C			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr21:11085863_11085864insC	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		catcaccaccaccaccatcacc	0.579																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11085863_11085864insC	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11085865_11085865dupC												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	INS	ENST00000470054.1	37																																																																																						0.579	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		12	69						12	69	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11085940	11085942	+	RNA	DEL	CAC	CAC	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr21:11085940_11085942delCAC	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ccaccaccatcaccaccaccacc	0.532																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11085940_11085942delCAC	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11085949_11085951delCAC												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	DEL	ENST00000470054.1	37																																																																																						0.532	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		9	63						9	63	---	---	---	---
MED15	51586	broad.mit.edu	37	22	20918916	20918918	+	In_Frame_Del	DEL	CAG	CAG	-	rs374794651		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr22:20918916_20918918delCAG	ENST00000263205.7	+	6	700_702	c.631_633delCAG	c.(631-633)cagdel	p.Q218del	MED15_ENST00000292733.7_In_Frame_Del_p.Q218del|MED15_ENST00000425759.2_In_Frame_Del_p.Q107del|MED15_ENST00000541476.1_In_Frame_Del_p.Q192del|MED15_ENST00000382974.2_In_Frame_Del_p.Q147del|MED15_ENST00000542773.1_In_Frame_Del_p.Q23del|MED15_ENST00000406969.1_In_Frame_Del_p.Q192del	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	218	Poly-Gln.			Missing (in Ref. 4; CAG30423). {ECO:0000305}.	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)			gcagcagctccagcagcagcagc	0.567											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.(631-633)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.chr22:20918916_20918918delCAG	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.631_633delCAG	22.37:g.20918925_20918927delCAG	ENSP00000263205:p.Gln218del		OREG0026319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	744	MED15_ENST00000406969.1_In_Frame_Del_p.Q192del|MED15_ENST00000542773.1_In_Frame_Del_p.Q23del|MED15_ENST00000292733.7_In_Frame_Del_p.Q218del|MED15_ENST00000425759.2_In_Frame_Del_p.Q107del|MED15_ENST00000541476.1_In_Frame_Del_p.Q192del|MED15_ENST00000382974.2_In_Frame_Del_p.Q147del	p.Q218del	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	700_702	+	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)	218	Missing (in Ref. 4; CAG30423).		Poly-Gln.		D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	In_Frame_Del	DEL	ENST00000263205.7	37	c.631_633delCAG	CCDS33602.1																																																																																				0.567	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	NM_015889		13	173						13	173	---	---	---	---
TCF20	6942	broad.mit.edu	37	22	42610776	42610778	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	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		10	390						10	390	---	---	---	---
BIK	638	broad.mit.edu	37	22	43525245	43525247	+	In_Frame_Del	DEL	GCT	GCT	-	rs542081559		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr22:43525245_43525247delGCT	ENST00000216115.2	+	5	480_482	c.417_419delGCT	c.(415-420)gcgctg>gcg	p.L144del		NM_001197.4	NP_001188.1	Q13323	BIK_HUMAN	BCL2-interacting killer (apoptosis-inducing)	144	Leucine-zipper. {ECO:0000255}.				apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|male gonad development (GO:0008584)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|mitochondrial envelope (GO:0005740)				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|urinary_tract(1)	5		Ovarian(80;0.0694)				tgctgctggcgctgctgctgctg	0.724																																						ENST00000216115.2																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|urinary_tract(1)	5						c.(415-420)gcg>gc		BCL2-interacting killer (apoptosis-inducing)				9,134,3841		1,0,7,18,98,1868						-8.8	0.0			26	9,256,7523		1,0,7,46,164,3676	no	codingComplex	BIK	NM_001197.4		2,0,14,64,262,5544	A1A1,A1A2,A1R,A2A2,A2R,RR		3.4027,3.5894,3.4659				18,390,11364				SO:0001651	inframe_deletion	638				apoptosis|induction of apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	endomembrane system|integral to membrane		g.chr22:43525245_43525247delGCT	U34584	CCDS14044.1	22q13.31	2014-03-07			ENSG00000100290	ENSG00000100290			1051	protein-coding gene	gene with protein product		603392				7478623, 10591208	Standard	NM_001197		Approved	NBK	uc003bdk.3	Q13323	OTTHUMG00000150703	ENST00000216115.2:c.417_419delGCT	22.37:g.43525254_43525256delGCT	ENSP00000216115:p.Leu144del						p.AL139del	NM_001197.4	NP_001188.1	Q13323	BIK_HUMAN			5	480_482	+		Ovarian(80;0.0694)	139			Leucine-zipper (Potential).		Q16582|Q6FH93	In_Frame_Del	DEL	ENST00000216115.2	37	c.417_419delGCT	CCDS14044.1																																																																																				0.724	BIK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319676.1	NM_001197		8	342						8	342	---	---	---	---
TRMU	55687	broad.mit.edu	37	22	46746285	46746285	+	Frame_Shift_Del	DEL	G	G	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr22:46746285delG	ENST00000290846.4	+	5	916	c.576delG	c.(574-576)ctgfs	p.L192fs	TRMU_ENST00000424260.2_3'UTR|TRMU_ENST00000381019.3_Frame_Shift_Del_p.L192fs	NM_018006.4	NP_060476.2	O75648	MTU1_HUMAN	tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase	192					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|sulfurtransferase activity (GO:0016783)|tRNA binding (GO:0000049)			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)	10		Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248)		TCTTCCCTCTGGGGGGATTAA	0.478																																						ENST00000290846.4																			0				NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)	10						c.(574-576)ctfs		tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase							82.0	89.0	87.0					22																	46746285		2203	4300	6503	SO:0001589	frameshift_variant	55687					mitochondrion	ATP binding|sulfurtransferase activity|tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase activity|tRNA binding	g.chr22:46746285delG	AY062123	CCDS14075.1, CCDS63510.1	22q13	2005-08-11	2005-08-11	2005-08-11	ENSG00000100416	ENSG00000100416	2.1.1.61		25481	protein-coding gene	gene with protein product		610230	"""tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase """	TRMT		14746906	Standard	XM_005261678		Approved	FLJ10140, MTO2	uc003bhp.3	O75648	OTTHUMG00000150424	ENST00000290846.4:c.576delG	22.37:g.46746285delG	ENSP00000290846:p.Leu192fs					TRMU_ENST00000424260.2_3'UTR|TRMU_ENST00000381019.3_Frame_Shift_Del_p.L192fs	p.L192fs	NM_018006.4	NP_060476.2	O75648	MTU1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248)	5	916	+		Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416)	192					A8K3U7|Q05C99|Q5W9C8|Q66K31|Q6ICC3|Q9NWC1	Frame_Shift_Del	DEL	ENST00000290846.4	37	c.576delG	CCDS14075.1																																																																																				0.478	TRMU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318042.2	NM_018006		8	669						8	669	---	---	---	---
TXLNG	55787	broad.mit.edu	37	X	16850849	16850850	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chrX:16850849_16850850delAG	ENST00000380122.5	+	6	1029_1030	c.968_969delAG	c.(967-969)cagfs	p.Q323fs	TXLNG_ENST00000398155.4_Frame_Shift_Del_p.Q191fs	NM_018360.2	NP_060830.2	Q9NUQ3	TXLNG_HUMAN	taxilin gamma	323					cell cycle (GO:0007049)|regulation of bone mineralization (GO:0030500)|regulation of cell cycle (GO:0051726)|regulation of cell cycle process (GO:0010564)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)	protein heterodimerization activity (GO:0046982)			breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	15						GAAAAACATCAGAGAGAGAGAG	0.386																																						ENST00000380122.5																			0				breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	15						c.(967-969)cfs		taxilin gamma																																				SO:0001589	frameshift_variant	55787				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane		g.chrX:16850849_16850850delAG	AK002071	CCDS14178.1, CCDS55373.1	Xp22.2	2014-05-07	2010-04-20	2010-04-20	ENSG00000086712	ENSG00000086712			18578	protein-coding gene	gene with protein product	"""lipopolysaccharide specific response-5 protein"", ""factor inhibiting activating transcription factor 4 (ATF4)-mediated transcription"""	300677	"""chromosome X open reading frame 15"""	CXorf15		15911876, 15184072, 16831913	Standard	NM_018360		Approved	FLJ11209, LSR5, FIAT, MGC126621, MGC126625, TXLNGX	uc004cxq.2	Q9NUQ3	OTTHUMG00000021196	ENST00000380122.5:c.968_969delAG	X.37:g.16850859_16850860delAG	ENSP00000369465:p.Gln323fs					TXLNG_ENST00000398155.4_Frame_Shift_Del_p.Q191fs	p.Q323fs	NM_018360.2	NP_060830.2	Q9NUQ3	TXLNG_HUMAN			6	1029_1030	+			323					Q2KQ75|Q5JNZ7|Q9P0X1	Frame_Shift_Del	DEL	ENST00000380122.5	37	c.968_969delAG	CCDS14178.1																																																																																				0.386	TXLNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055912.1	NM_018360		7	292						7	292	---	---	---	---
PRRG1	5638	broad.mit.edu	37	X	37312611	37312611	+	Frame_Shift_Del	DEL	C	C	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chrX:37312611delC	ENST00000542554.1	+	5	666	c.394delC	c.(394-396)cccfs	p.P135fs	PRRG1_ENST00000543642.1_Frame_Shift_Del_p.P135fs|PRRG1_ENST00000449135.2_Frame_Shift_Del_p.P135fs|TM4SF2_ENST00000465127.1_Intron|PRRG1_ENST00000378628.4_Frame_Shift_Del_p.P135fs|PRRG1_ENST00000491253.1_3'UTR	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN	proline rich Gla (G-carboxyglutamic acid) 1	135	Poly-Pro.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.P135fs*3(1)|p.P134fs*19(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						TATCACCCCACCCCCCCCACC	0.488																																						ENST00000542554.1																			2	Deletion - Frameshift(1)|Insertion - Frameshift(1)	p.P135fs*3(1)|p.P134fs*19(1)	ovary(2)	breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(394-396)ccfs		proline rich Gla (G-carboxyglutamic acid) 1							117.0	111.0	113.0					X																	37312611		2202	4300	6502	SO:0001589	frameshift_variant	5638					extracellular region|integral to plasma membrane	calcium ion binding	g.chrX:37312611delC	AF009242	CCDS14239.1, CCDS55397.1	Xp21.1	2010-08-13	2004-05-27		ENSG00000130962	ENSG00000130962			9469	protein-coding gene	gene with protein product		604428	"""proline-rich Gla (G-carboxyglutamic acid) polypeptide 1"""			9256434	Standard	NM_000950		Approved	PRGP1	uc004ddo.3	O14668	OTTHUMG00000021360	ENST00000542554.1:c.394delC	X.37:g.37312611delC	ENSP00000444278:p.Pro135fs					PRRG1_ENST00000543642.1_Frame_Shift_Del_p.P135fs|PRRG1_ENST00000378628.4_Frame_Shift_Del_p.P135fs|PRRG1_ENST00000491253.1_3'UTR|PRRG1_ENST00000449135.2_Frame_Shift_Del_p.P135fs|TM4SF2_ENST00000465127.1_Intron	p.P135fs	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN			5	666	+			135			Poly-Pro.		B2R7A3|C9JXL7|D3DWA9|Q5JT66	Frame_Shift_Del	DEL	ENST00000542554.1	37	c.394delC	CCDS14239.1																																																																																				0.488	PRRG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056228.2	NM_000950		7	455						7	455	---	---	---	---
TSIX	9383	broad.mit.edu	37	X	73047124	73047125	+	lincRNA	DEL	AC	AC	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	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		12	389						12	389	---	---	---	---
MAMLD1	10046	broad.mit.edu	37	X	149639633	149639635	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chrX:149639633_149639635delGCA	ENST00000370401.2	+	4	2098_2100	c.1788_1790delGCA	c.(1786-1791)ctgcag>ctg	p.Q606del	MAMLD1_ENST00000262858.5_In_Frame_Del_p.Q606del|MAMLD1_ENST00000432680.2_In_Frame_Del_p.Q581del|MAMLD1_ENST00000455522.2_In_Frame_Del_p.Q87del|MAMLD1_ENST00000426613.2_In_Frame_Del_p.Q581del			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	606	Poly-Gln.				male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					CCTTgcagctgcagcagcagcag	0.611																																						ENST00000370401.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(1786-1791)ctg>ct		mastermind-like domain containing 1																																				SO:0001651	inframe_deletion	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149639633_149639635delGCA	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"""chromosome X open reading frame 6"""	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.1788_1790delGCA	X.37:g.149639642_149639644delGCA	ENSP00000359428:p.Gln606del					MAMLD1_ENST00000455522.2_In_Frame_Del_p.LQ77del|MAMLD1_ENST00000426613.2_In_Frame_Del_p.LQ571del|MAMLD1_ENST00000432680.2_In_Frame_Del_p.LQ571del|MAMLD1_ENST00000262858.5_In_Frame_Del_p.LQ596del	p.LQ596del			Q13495	MAMD1_HUMAN			4	2098_2100	+	Acute lymphoblastic leukemia(192;6.56e-05)		596			Poly-Gln.		B2RCQ4|B4DG93|B9EGA5	In_Frame_Del	DEL	ENST00000370401.2	37	c.1788_1790delGCA	CCDS14693.2																																																																																				0.611	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		7	253						7	253	---	---	---	---
RSPO1	284654	broad.mit.edu	37	1	38078467	38078469	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr1:38078467_38078469delTGC	ENST00000401069.1	-	7	1462_1464	c.750_752delGCA	c.(748-753)cagcaa>caa	p.250_251QQ>Q	RSPO1_ENST00000373059.1_In_Frame_Del_p.223_224QQ>Q|RSPO1_ENST00000401068.1_In_Frame_Del_p.250_251QQ>Q|RSPO1_ENST00000356545.2_In_Frame_Del_p.250_251QQ>Q|RSPO1_ENST00000401071.2_In_Frame_Del_p.187_188QQ>Q|RSPO1_ENST00000401070.1_In_Frame_Del_p.187_188QQ>Q	NM_001242908.1	NP_001229837.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	250					canonical Wnt signaling pathway (GO:0060070)|male meiosis (GO:0007140)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of non-canonical Wnt signaling pathway (GO:2000052)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of gene expression (GO:0010468)|regulation of male germ cell proliferation (GO:2000254)|regulation of receptor internalization (GO:0002090)	extracellular space (GO:0005615)|nucleus (GO:0005634)	G-protein coupled receptor binding (GO:0001664)|heparin binding (GO:0008201)|receptor binding (GO:0005102)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CACTGTCCCTTGCTGCTGCTGCT	0.621																																					GBM(122;680 2230 27822 42821)	ENST00000356545.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12						c.(748-753)caa>ca		R-spondin 1			,,,	31,74,4091		12,0,7,2,70,2007					,,,	2.3	1.0			96	37,0,8137		16,0,5,0,0,4066	no	codingComplex,codingComplex,codingComplex,codingComplex	RSPO1	NM_001242910.1,NM_001242909.1,NM_001242908.1,NM_001038633.3	,,,	28,0,12,2,70,6073	A1A1,A1A2,A1R,A2A2,A2R,RR		0.4527,2.5024,1.1479	,,,	,,,		68,74,12228				SO:0001651	inframe_deletion	284654				positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding	g.chr1:38078467_38078469delTGC	AK098225	CCDS41304.1, CCDS55590.1, CCDS55591.1	1p34.2	2014-01-30	2011-06-29		ENSG00000169218	ENSG00000169218		"""Endogenous ligands"""	21679	protein-coding gene	gene with protein product		609595	"""R-spondin homolog (Xenopus laevis)"""				Standard	NM_001038633		Approved	FLJ40906, RSPONDIN	uc001cbm.2	Q2MKA7	OTTHUMG00000004321	ENST00000401069.1:c.750_752delGCA	1.37:g.38078476_38078478delTGC	ENSP00000383847:p.Gln251del					RSPO1_ENST00000373059.1_In_Frame_Del_p.QQ223del|RSPO1_ENST00000401069.1_In_Frame_Del_p.QQ250del|RSPO1_ENST00000401068.1_In_Frame_Del_p.QQ250del|RSPO1_ENST00000401071.2_In_Frame_Del_p.QQ187del|RSPO1_ENST00000401070.1_In_Frame_Del_p.QQ187del	p.QQ250del	NM_001038633.3	NP_001033722.1	Q2MKA7	RSPO1_HUMAN			8	1537_1539	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	250					A2A420|Q0H8S6|Q14C72|Q5T0F2|Q8N7L5	In_Frame_Del	DEL	ENST00000401069.1	37	c.750_752delGCA	CCDS41304.1																																																																																				0.621	RSPO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012477.2	NM_173640		8	782						8	782	---	---	---	---
CDCA8	55143	broad.mit.edu	37	1	38166149	38166151	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr1:38166149_38166151delGAA	ENST00000373055.1	+	5	652_654	c.379_381delGAA	c.(379-381)gaadel	p.E131del	CDCA8_ENST00000327331.2_In_Frame_Del_p.E131del	NM_001256875.1|NM_018101.3	NP_001243804.1|NP_060571.1	Q53HL2	BOREA_HUMAN	cell division cycle associated 8	131	Poly-Glu.|Required for interaction with SENP3.				chromosome organization (GO:0051276)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)	chromocenter (GO:0010369)|chromosome passenger complex (GO:0032133)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|midbody (GO:0030496)|nucleolus (GO:0005730)|nucleus (GO:0005634)|protein complex (GO:0043234)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(1)|stomach(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGTGGAAGAGGAAGAAGAAGAAG	0.384																																						ENST00000373055.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(1)|stomach(1)	11						c.(379-381)del		cell division cycle associated 8				3,4263		1,1,2131						-1.9	1.0			132	3,8251		0,3,4124	no	coding	CDCA8	NM_018101.2		1,4,6255	A1A1,A1R,RR		0.0363,0.0703,0.0479				6,12514				SO:0001651	inframe_deletion	55143				cell division|chromosome organization|mitotic metaphase|mitotic prometaphase	chromosome passenger complex|chromosome, centromeric region|cytosol|nucleolus|spindle	protein binding	g.chr1:38166149_38166151delGAA	BG354581	CCDS424.1	1p34.3	2013-01-17			ENSG00000134690	ENSG00000134690			14629	protein-coding gene	gene with protein product	"""borealin"""	609977				12188893, 15260989	Standard	NM_001256875		Approved	FLJ12042, MESRGP, BOR, DasraB	uc001cbs.4	Q53HL2	OTTHUMG00000004320	ENST00000373055.1:c.379_381delGAA	1.37:g.38166158_38166160delGAA	ENSP00000362146:p.Glu131del					CDCA8_ENST00000327331.2_In_Frame_Del_p.E131del	p.E131del	NM_001256875.1|NM_018101.3	NP_001243804.1|NP_060571.1	Q53HL2	BOREA_HUMAN			5	652_654	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	131			Poly-Glu.|Required for interaction with SENP3.		D3DPT4|Q53HN1|Q96AM3|Q9NVW5	In_Frame_Del	DEL	ENST00000373055.1	37	c.379_381delGAA	CCDS424.1																																																																																				0.384	CDCA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012473.1	NM_018101		7	987						7	987	---	---	---	---
BRDT	676	broad.mit.edu	37	1	92447228	92447230	+	In_Frame_Del	DEL	AGC	AGC	-	rs375773077		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr1:92447228_92447230delAGC	ENST00000362005.3	+	13	2336_2338	c.1918_1920delAGC	c.(1918-1920)agcdel	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|BRDT_ENST00000399546.2_In_Frame_Del_p.S648del	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_ENST00000362005.3_In_Frame_Del_p.S648del|BRDT_ENST00000402388.1_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		7	510						7	510	---	---	---	---
SPAG17	200162	broad.mit.edu	37	1	118693199	118693199	+	Frame_Shift_Del	DEL	T	T	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr1:118693199delT	ENST00000336338.5	-	3	347	c.282delA	c.(280-282)aaafs	p.K94fs		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	94						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CACCTACAGGTTTTTTTGCCT	0.254																																						ENST00000336338.5																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123						c.(280-282)aafs		sperm associated antigen 17							71.0	73.0	72.0					1																	118693199		2199	4287	6486	SO:0001589	frameshift_variant	200162					cilium|flagellar axoneme|microtubule		g.chr1:118693199delT		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.282delA	1.37:g.118693199delT	ENSP00000337804:p.Lys94fs						p.K94fs	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	3	347	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	94					Q8NAZ1|Q9NT21	Frame_Shift_Del	DEL	ENST00000336338.5	37	c.282delA	CCDS899.1																																																																																				0.254	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		7	1092						7	1092	---	---	---	---
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121116645	121116645	+	lincRNA	DEL	T	T	-	rs377003181		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	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			11	321						11	321	---	---	---	---
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121137698	121137699	+	lincRNA	INS	-	-	TT	rs57730437|rs371916849		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr1:121137698_121137699insTT	ENST00000417218.1	+	0	0				RP11-343N15.1_ENST00000437515.1_lincRNA																							CTACTTACATCTTTTTGTCTTT	0.441																																						ENST00000437515.1																			0																																																			0							g.chr1:121137698_121137699insTT																													1.37:g.121137701_121137702dupTT														0	329	-									RNA	INS	ENST00000417218.1	37																																																																																						0.441	AL592494.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000036739.1			17	202						17	202	---	---	---	---
SEC22B	9554	broad.mit.edu	37	1	145109312	145109313	+	RNA	INS	-	-	A	rs9424678|rs11370361|rs142440425		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr1:145109312_145109313insA	ENST00000453618.1	+	0	512							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)											aaaccaaaaacaaaAAAAAAAG	0.416																																						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.chr1:145109312_145109313insA	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.145109322_145109322dupA										O75396	SC22B_HUMAN			0	512	+								A8K1G0	RNA	INS	ENST00000453618.1	37																																																																																						0.416	SEC22B-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000038523.5	NM_004892		7	31						7	31	---	---	---	---
POLR3GL	84265	broad.mit.edu	37	1	145457040	145457042	+	In_Frame_Del	DEL	TCT	TCT	-	rs587765256		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr1:145457040_145457042delTCT	ENST00000369314.1	-	7	625_627	c.519_521delAGA	c.(517-522)gaagag>gag	p.173_174EE>E	POLR3GL_ENST00000369313.3_In_Frame_Del_p.150_151EE>E	NM_032305.1	NP_115681.1	Q9BT43	RPC7L_HUMAN	polymerase (RNA) III (DNA directed) polypeptide G (32kD)-like	173	Glu-rich.				gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)				endometrium(2)|large_intestine(1)|lung(1)	4	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ctcttccttctcttcttcttctt	0.448																																						ENST00000369314.1																			0				endometrium(2)|large_intestine(1)|lung(1)	4						c.(517-522)gag>ga		polymerase (RNA) III (DNA directed) polypeptide G (32kD)-like																																				SO:0001651	inframe_deletion	84265							g.chr1:145457040_145457042delTCT	BC004355	CCDS72875.1	1q21.1	2008-02-05	2006-12-14		ENSG00000121851	ENSG00000121851			28466	protein-coding gene	gene with protein product			"""polymerase (RNA) III (DNA directed) polypeptide G (32kD) like"""			12477932	Standard	NM_032305		Approved	flj32422, MGC3200	uc001enp.1	Q9BT43	OTTHUMG00000013739	ENST00000369314.1:c.519_521delAGA	1.37:g.145457049_145457051delTCT	ENSP00000358320:p.Glu174del					POLR3GL_ENST00000369313.3_In_Frame_Del_p.EE150del	p.EE173del	NM_032305.1	NP_115681.1	Q9BT43	RPC7L_HUMAN			7	625_627	-	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		173			Glu-rich.		B1MVG5	In_Frame_Del	DEL	ENST00000369314.1	37	c.519_521delAGA	CCDS914.1																																																																																				0.448	POLR3GL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038510.1	NM_032305		8	125						8	125	---	---	---	---
ADAMTSL4	54507	broad.mit.edu	37	1	150530506	150530506	+	Frame_Shift_Del	DEL	G	G	-	rs149280379		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr1:150530506delG	ENST00000369038.2	+	12	2464	c.2263delG	c.(2263-2265)gggfs	p.G758fs	ADAMTSL4_ENST00000369041.5_Frame_Shift_Del_p.G758fs|ADAMTSL4_ENST00000369039.5_Frame_Shift_Del_p.G781fs|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000271643.4_Frame_Shift_Del_p.G758fs			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	758	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GCAGGAATTTGGGGGGGGTGG	0.692																																						ENST00000271643.4																			0				breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32						c.(2263-2265)ggfs		ADAMTS-like 4							41.0	49.0	46.0					1																	150530506		2147	4195	6342	SO:0001589	frameshift_variant	54507				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding	g.chr1:150530506delG	BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"""thrombospondin repeat containing 1"""	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.2263delG	1.37:g.150530506delG	ENSP00000358034:p.Gly758fs					ADAMTSL4_ENST00000369038.2_Frame_Shift_Del_p.G758fs|ADAMTSL4_ENST00000369039.5_Frame_Shift_Del_p.G781fs|ADAMTSL4_ENST00000369041.5_Frame_Shift_Del_p.G758fs	p.G758fs	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		14	2499	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		758			TSP type-1 2.		B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Frame_Shift_Del	DEL	ENST00000369038.2	37	c.2263delG	CCDS955.1																																																																																				0.692	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084395.4	NM_019032		9	630						9	630	---	---	---	---
PCP4L1	654790	broad.mit.edu	37	1	161254154	161254156	+	In_Frame_Del	DEL	GGA	GGA	-	rs549268381		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr1:161254154_161254156delGGA	ENST00000504449.1	+	3	338_340	c.90_92delGGA	c.(88-93)gcggag>gcg	p.E35del		NM_001102566.1	NP_001096036.1	A6NKN8	PC4L1_HUMAN	Purkinje cell protein 4 like 1	35								p.A30A(1)|p.E35delE(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4	all_cancers(52;4.16e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TCAAGAAGGCGGAGGAGGAGGAG	0.488																																						ENST00000504449.1																			2	Substitution - coding silent(1)|Deletion - In frame(1)	p.A30A(1)|p.E35delE(1)	large_intestine(1)|lung(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						c.(88-93)gcg>gc		Purkinje cell protein 4 like 1																																				SO:0001651	inframe_deletion	654790							g.chr1:161254154_161254156delGGA	BC028905	CCDS53412.1	1q23.3	2006-02-27	2006-02-27		ENSG00000248485	ENSG00000248485			20448	protein-coding gene	gene with protein product			"""purkinje cell protein 4 like 1"""				Standard	NM_001102566		Approved	IQM1	uc001gad.3	A6NKN8	OTTHUMG00000034340	ENST00000504449.1:c.90_92delGGA	1.37:g.161254163_161254165delGGA	ENSP00000426296:p.Glu35del						p.AE30del	NM_001102566.1	NP_001096036.1	A6NKN8	PC4L1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		3	338_340	+	all_cancers(52;4.16e-18)|all_hematologic(112;0.093)		30					B2RV24|B9EJG4	In_Frame_Del	DEL	ENST00000504449.1	37	c.90_92delGGA	CCDS53412.1																																																																																				0.488	PCP4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082986.2			7	465						7	465	---	---	---	---
ZC3H11A	9877	broad.mit.edu	37	1	203816503	203816504	+	Frame_Shift_Ins	INS	-	-	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr1:203816503_203816504insA	ENST00000545588.1	+	12	5061_5062	c.1234_1235insA	c.(1234-1236)gaafs	p.E412fs	ZC3H11A_ENST00000367210.1_Frame_Shift_Ins_p.E412fs|ZC3H11A_ENST00000367212.3_Frame_Shift_Ins_p.E412fs|ZC3H11A_ENST00000367214.1_Frame_Shift_Ins_p.E412fs|ZC3H11A_ENST00000332127.4_Frame_Shift_Ins_p.E412fs	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	412				E -> K (in Ref. 3; CAH10525). {ECO:0000305}.	poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GGTCCTGGCTGAAAAAAAACAT	0.386																																						ENST00000545588.1																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(1234-1236)aaafs		zinc finger CCCH-type containing 11A																																				SO:0001589	frameshift_variant	9877						nucleic acid binding|protein binding|zinc ion binding	g.chr1:203816503_203816504insA		CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"""Zinc fingers, CCCH-type domain containing"""	29093	protein-coding gene	gene with protein product		613513	"""zinc finger CCCH-type domain containing 11A"""	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.1242dupA	1.37:g.203816511_203816511dupA	ENSP00000438527:p.Glu412fs					ZC3H11A_ENST00000367210.1_Frame_Shift_Ins_p.K412fs|ZC3H11A_ENST00000367214.1_Frame_Shift_Ins_p.K412fs|ZC3H11A_ENST00000367212.3_Frame_Shift_Ins_p.K412fs|ZC3H11A_ENST00000332127.4_Frame_Shift_Ins_p.K412fs	p.K412fs	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		12	5061_5062	+	all_cancers(21;0.0904)|all_epithelial(62;0.234)		412	E -> K (in Ref. 3; CAH10525).				Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Frame_Shift_Ins	INS	ENST00000545588.1	37	c.1234_1235insA	CCDS30978.1																																																																																				0.386	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087471.3	NM_014827		8	366						8	366	---	---	---	---
PSME4	23198	broad.mit.edu	37	2	54093344	54093345	+	Frame_Shift_Ins	INS	-	-	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr2:54093344_54093345insT	ENST00000404125.1	-	46	5468_5469	c.5413_5414insA	c.(5413-5415)accfs	p.T1805fs	PSME4_ENST00000421748.2_Frame_Shift_Ins_p.T949fs|PSME4_ENST00000476586.1_5'UTR	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1805					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)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)	p.T1691fs*>39(1)		breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			ATTGGATAAGGTTTTTTTTACA	0.401																																						ENST00000404125.1																			1	Deletion - Frameshift(1)	p.T1691fs*>39(1)	ovary(1)	breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60						c.(5413-5415)cttfs		proteasome (prosome, macropain) activator subunit 4																																				SO:0001589	frameshift_variant	23198				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|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|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	g.chr2:54093344_54093345insT	D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"""Proteasome (prosome, macropain) subunits"""	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.5414dupA	2.37:g.54093352_54093352dupT	ENSP00000384211:p.Thr1805fs					PSME4_ENST00000421748.2_Frame_Shift_Ins_p.L949fs|PSME4_ENST00000476586.1_5'UTR	p.L1805fs	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		46	5468_5469	-			1805					Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Frame_Shift_Ins	INS	ENST00000404125.1	37	c.5413_5414insA	CCDS33197.2																																																																																				0.401	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158		7	984						7	984	---	---	---	---
DYSF	8291	broad.mit.edu	37	2	71801420	71801422	+	In_Frame_Del	DEL	CCG	CCG	-	rs377079619		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr2:71801420_71801422delCCG	ENST00000258104.3	+	30	3544_3546	c.3267_3269delCCG	c.(3265-3270)ttccgc>ttc	p.R1093del	DYSF_ENST00000409651.1_In_Frame_Del_p.R1125del|DYSF_ENST00000429174.2_In_Frame_Del_p.R1093del|DYSF_ENST00000410041.1_In_Frame_Del_p.R1111del|DYSF_ENST00000413539.2_In_Frame_Del_p.R1124del|DYSF_ENST00000409744.1_In_Frame_Del_p.R1080del|DYSF_ENST00000409582.3_In_Frame_Del_p.R1110del|DYSF_ENST00000394120.2_In_Frame_Del_p.R1094del|DYSF_ENST00000409366.1_In_Frame_Del_p.R1094del|DYSF_ENST00000410020.3_In_Frame_Del_p.R1111del|DYSF_ENST00000409762.1_In_Frame_Del_p.R1110del	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_ENST00000394120.2_In_Frame_Del_p.FR1090del|DYSF_ENST00000410020.3_In_Frame_Del_p.FR1107del|DYSF_ENST00000409762.1_In_Frame_Del_p.FR1106del|DYSF_ENST00000409582.3_In_Frame_Del_p.FR1106del|DYSF_ENST00000409744.1_In_Frame_Del_p.FR1076del|DYSF_ENST00000410041.1_In_Frame_Del_p.FR1107del|DYSF_ENST00000429174.2_In_Frame_Del_p.FR1089del|DYSF_ENST00000413539.2_In_Frame_Del_p.FR1120del|DYSF_ENST00000409366.1_In_Frame_Del_p.FR1090del|DYSF_ENST00000409651.1_In_Frame_Del_p.FR1121del	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		7	982						7	982	---	---	---	---
PCGF1	84759	broad.mit.edu	37	2	74729977	74729977	+	IGR	DEL	T	T	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr2:74729977delT	ENST00000233630.6	-	0	1792				LBX2-AS1_ENST00000603175.1_RNA|LBX2-AS1_ENST00000548978.2_RNA|PCGF1_ENST00000480844.2_5'Flank|LBX2_ENST00000341396.2_Frame_Shift_Del_p.R4fs|RP11-523H20.3_ENST00000606287.1_RNA|LBX2_ENST00000550249.1_5'UTR|LBX2_ENST00000460508.3_Frame_Shift_Del_p.R4fs	NM_032673.2	NP_116062.2	Q9BSM1	PCGF1_HUMAN	polycomb group ring finger 1						histone H2A monoubiquitination (GO:0035518)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(2)	12						AGGGAAGTCCTTTTTCCCATC	0.622																																						ENST00000460508.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(1)	4						c.(10-12)ggfs		ladybird homeobox 2							31.0	34.0	33.0					2																	74729977		2203	4300	6503	SO:0001628	intergenic_variant	85474					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:74729977delT	AF087884	CCDS1946.2	2p13.1	2013-01-09			ENSG00000115289	ENSG00000115289		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	17615	protein-coding gene	gene with protein product		610231				11287196	Standard	NM_032673		Approved	NSPC1, RNF68, MGC10882	uc002slz.3	Q9BSM1	OTTHUMG00000129954		2.37:g.74729977delT						LBX2_ENST00000550249.1_5'UTR|LBX2-AS1_ENST00000603175.1_RNA|LBX2-AS1_ENST00000548978.2_RNA|LBX2_ENST00000341396.2_Frame_Shift_Del_p.R4fs	p.R4fs	NM_001009812.1	NP_001009812.1	Q6XYB7	LBX2_HUMAN			1	466	-			0					Q7Z506	Frame_Shift_Del	DEL	ENST00000233630.6	37	c.10delA	CCDS1946.2																																																																																				0.622	PCGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252216.1	NM_032673		7	308						7	308	---	---	---	---
SLC9A4	389015	broad.mit.edu	37	2	103149137	103149137	+	Frame_Shift_Del	DEL	A	A	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	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		12	421						12	421	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141093392	141093392	+	Frame_Shift_Del	DEL	T	T	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr2:141093392delT	ENST00000389484.3	-	78	12879	c.11908delA	c.(11908-11910)aggfs	p.R3970fs		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3970					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCCCTGGGCCTTTTAAATTCA	0.418										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(11908-11910)ggfs		low density lipoprotein receptor-related protein 1B							94.0	91.0	92.0					2																	141093392		2203	4300	6503	SO:0001589	frameshift_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141093392delT	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.11908delA	2.37:g.141093392delT	ENSP00000374135:p.Arg3970fs	TSP Lung(27;0.18)					p.R3970fs	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	78	12879	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	3970					Q8WY29|Q8WY30|Q8WY31	Frame_Shift_Del	DEL	ENST00000389484.3	37	c.11908delA	CCDS2182.1																																																																																				0.418	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		8	875						8	875	---	---	---	---
DNAH7	56171	broad.mit.edu	37	2	196801374	196801374	+	Frame_Shift_Del	DEL	A	A	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr2:196801374delA	ENST00000312428.6	-	20	3321	c.3221delT	c.(3220-3222)ttgfs	p.L1074fs		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1074	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						ATCATTGGACAAAAAAAAGAA	0.318																																						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.(3220-3222)tgfs		dynein, axonemal, heavy chain 7							73.0	72.0	72.0					2																	196801374		1799	4060	5859	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.chr2:196801374delA	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.3221delT	2.37:g.196801374delA	ENSP00000311273:p.Leu1074fs						p.L1074fs	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			20	3321	-			1074			Stem (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Frame_Shift_Del	DEL	ENST00000312428.6	37	c.3221delT	CCDS42794.1																																																																																				0.318	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		9	506						9	506	---	---	---	---
EFHD1	80303	broad.mit.edu	37	2	233546363	233546365	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr2:233546363_233546365delGGA	ENST00000264059.3	+	4	1131_1133	c.654_656delGGA	c.(652-657)cgggag>cgg	p.E222del	EFHD1_ENST00000410095.1_In_Frame_Del_p.E110del|snoU13_ENST00000459149.1_RNA|EFHD1_ENST00000409613.1_In_Frame_Del_p.E126del|EFHD1_ENST00000409708.1_In_Frame_Del_p.E110del	NM_025202.3	NP_079478.1	Q9BUP0	EFHD1_HUMAN	EF-hand domain family, member D1	222					neuron projection development (GO:0031175)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|large_intestine(2)|lung(3)	7		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025)		Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101)		AGCGGAAGCGGGAGGAGGAGGAG	0.547																																						ENST00000264059.3																			0				NS(1)|breast(1)|large_intestine(2)|lung(3)	7						c.(652-657)cgg>cg		EF-hand domain family, member D1																																				SO:0001651	inframe_deletion	80303						calcium ion binding|protein binding	g.chr2:233546363_233546365delGGA		CCDS2497.1, CCDS58755.1	2q37.1	2014-07-01	2005-01-25		ENSG00000115468	ENSG00000115468		"""EF-hand domain containing"""	29556	protein-coding gene	gene with protein product	"""swiprosin-2"""	611617	"""EF hand domain containing 1"""			21244694	Standard	NM_025202		Approved	FLJ13612	uc002vtc.3	Q9BUP0	OTTHUMG00000133263	ENST00000264059.3:c.654_656delGGA	2.37:g.233546372_233546374delGGA	ENSP00000264059:p.Glu222del					EFHD1_ENST00000409708.1_In_Frame_Del_p.RE106del|EFHD1_ENST00000410095.1_In_Frame_Del_p.RE106del|EFHD1_ENST00000409613.1_In_Frame_Del_p.RE122del	p.RE218del	NM_025202.3	NP_079478.1	Q9BUP0	EFHD1_HUMAN		Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101)	4	1131_1133	+		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025)	218					B2RD83|E9PFH3|Q9BTF8|Q9H8I2|Q9HBQ0	In_Frame_Del	DEL	ENST00000264059.3	37	c.654_656delGGA	CCDS2497.1																																																																																				0.547	EFHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257040.2	NM_025202		12	652						12	652	---	---	---	---
UGT1A10	54575	broad.mit.edu	37	2	234545526	234545526	+	Frame_Shift_Del	DEL	T	T	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr2:234545526delT	ENST00000344644.5	+	1	427	c.358delT	c.(358-360)tttfs	p.F121fs	UGT1A10_ENST00000373445.1_Frame_Shift_Del_p.F121fs|UGT1A1_ENST00000373450.4_Intron	NM_019075.2	NP_061948.1	Q9HAW8	UD110_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A10	121					cellular glucuronidation (GO:0052695)|flavone metabolic process (GO:0051552)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)	Acetaminophen(DB00316)|Etodolac(DB00749)|Losartan(DB00678)|Mycophenolate mofetil(DB00688)|Valproic Acid(DB00313)	TCTTGACTTATTTTTTTCGCA	0.373																																						ENST00000344644.5																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32						c.(358-360)ttfs									103.0	111.0	109.0					2																	234545526		2203	4300	6503	SO:0001589	frameshift_variant	0							g.chr2:234545526delT	U39550	CCDS33403.1	2q37	2010-03-05	2005-07-20		ENSG00000242515	ENSG00000242515		"""UDP glucuronosyltransferases"""	12531	other	complex locus constituent		606435	"""UDP glycosyltransferase 1 family, polypeptide A10"""			9295054, 9325166	Standard	NM_019075		Approved	UGT1J		Q9HAW8	OTTHUMG00000059121	ENST00000344644.5:c.358delT	2.37:g.234545526delT	ENSP00000343838:p.Phe121fs					UGT1A10_ENST00000373445.1_Frame_Shift_Del_p.F121fs|UGT1A8_ENST00000373450.4_Intron	p.F121fs	NM_019075.2	NP_061948.1				Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)	1	427	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)						O00474|Q6NT91|Q7Z6H8	Frame_Shift_Del	DEL	ENST00000344644.5	37	c.358delT	CCDS33403.1																																																																																				0.373	UGT1A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130986.1	NM_019075		8	989						8	989	---	---	---	---
GAL3ST2	64090	broad.mit.edu	37	2	242738494	242738496	+	In_Frame_Del	DEL	TCC	TCC	-	rs199680376		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr2:242738494_242738496delTCC	ENST00000192314.6	+	2	175_177	c.44_46delTCC	c.(43-48)atcctc>atc	p.L20del	AC114730.5_ENST00000437438.1_RNA	NM_022134.2	NP_071417.2	Q9H3Q3	G3ST2_HUMAN	galactose-3-O-sulfotransferase 2	20					biosynthetic process (GO:0009058)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)	p.L16I(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		TTCCGGGTCATCCTCCTCCTCCT	0.631																																						ENST00000192314.6																			1	Substitution - Missense(1)	p.L16I(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14						c.(43-48)atc>a		galactose-3-O-sulfotransferase 2																																				SO:0001651	inframe_deletion	64090				biosynthetic process	Golgi cisterna membrane|integral to membrane	galactosylceramide sulfotransferase activity	g.chr2:242738494_242738496delTCC	AB040610	CCDS33427.1	2q37.2	2014-05-19			ENSG00000154252	ENSG00000154252		"""Sulfotransferases, membrane-bound"""	24869	protein-coding gene	gene with protein product		608237				11029462	Standard	NM_022134		Approved	GP3ST	uc002wcj.1	Q9H3Q3	OTTHUMG00000151473	ENST00000192314.6:c.44_46delTCC	2.37:g.242738503_242738505delTCC	ENSP00000192314:p.Leu20del						p.IL15del	NM_022134.2	NP_071417.2	Q9H3Q3	G3ST2_HUMAN		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)	2	175_177	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	15					Q17RK0|Q57Z52	In_Frame_Del	DEL	ENST00000192314.6	37	c.44_46delTCC	CCDS33427.1																																																																																				0.631	GAL3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322792.1	NM_022134		9	396						9	396	---	---	---	---
NKTR	4820	broad.mit.edu	37	3	42679486	42679486	+	Frame_Shift_Del	DEL	A	A	-	rs150528581	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr3:42679486delA	ENST00000232978.8	+	13	2478	c.2290delA	c.(2290-2292)aaafs	p.K765fs	RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	765	Arg/Ser-rich.				protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		ATCCAGTGGGAAAAAAAATAG	0.378																																						ENST00000232978.8																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41						c.(2290-2292)aafs		natural killer-tumor recognition sequence							86.0	86.0	86.0					3																	42679486		2203	4300	6503	SO:0001589	frameshift_variant	4820				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr3:42679486delA		CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"""NK-tumor recognition protein"", ""natural-killer cells cyclophilin-related protein"", ""NK-TR protein"""	161565	"""natural killer-tumor recognition sequence"""			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.2290delA	3.37:g.42679486delA	ENSP00000232978:p.Lys765fs					RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	p.K765fs	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.24)	13	2478	+			765			Arg/Ser-rich.			Frame_Shift_Del	DEL	ENST00000232978.8	37	c.2290delA	CCDS2702.1																																																																																				0.378	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2	NM_005385		8	441						8	441	---	---	---	---
LOC728290	728290	broad.mit.edu	37	3	81115695	81115696	+	lincRNA	DEL	CT	CT	-	rs140258442|rs147076463	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr3:81115695_81115696delCT	ENST00000482617.1	+	0	60																											cctcctcctcctctctctctct	0.515																																						ENST00000482617.1																			0																																																			0							g.chr3:81115695_81115696delCT																													3.37:g.81115705_81115706delCT														0	60	+									RNA	DEL	ENST00000482617.1	37																																																																																						0.515	RP11-6B4.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000352644.1			3	5						3	5	---	---	---	---
PRDM8	56978	broad.mit.edu	37	4	81123250	81123252	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	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			7	263						7	263	---	---	---	---
C4orf22	255119	broad.mit.edu	37	4	81791254	81791254	+	Frame_Shift_Del	DEL	A	A	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr4:81791254delA	ENST00000358105.3	+	4	490	c.441delA	c.(439-441)ggafs	p.G147fs	C4orf22_ENST00000508675.1_Frame_Shift_Del_p.G164fs	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN	chromosome 4 open reading frame 22	147										NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						ACTTTACTGGAAAAAAAAGAC	0.373																																						ENST00000358105.3																			0				NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						c.(439-441)ggfs		chromosome 4 open reading frame 22																																				SO:0001589	frameshift_variant	255119							g.chr4:81791254delA	BC034296	CCDS3587.1, CCDS56336.1	4q21.21	2008-02-05			ENSG00000197826	ENSG00000197826			28554	protein-coding gene	gene with protein product						12477932	Standard	NM_152770		Approved		uc010ijp.3	Q6V702	OTTHUMG00000130289	ENST00000358105.3:c.441delA	4.37:g.81791254delA	ENSP00000350818:p.Gly147fs					C4orf22_ENST00000508675.1_Frame_Shift_Del_p.G164fs	p.G147fs	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN			4	490	+			147					E7EQ13|Q6ZQY4|Q8N4G9	Frame_Shift_Del	DEL	ENST00000358105.3	37	c.441delA	CCDS3587.1																																																																																				0.373	C4orf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252629.2	NM_152770		7	796						7	796	---	---	---	---
SEC31A	22872	broad.mit.edu	37	4	83785564	83785565	+	Frame_Shift_Ins	INS	-	-	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr4:83785564_83785565insT	ENST00000395310.2	-	11	1566_1567	c.1384_1385insA	c.(1384-1386)attfs	p.I462fs	SEC31A_ENST00000432794.1_Frame_Shift_Ins_p.I462fs|SEC31A_ENST00000505472.1_Frame_Shift_Ins_p.I462fs|SEC31A_ENST00000355196.2_Frame_Shift_Ins_p.I462fs|SEC31A_ENST00000311785.7_Frame_Shift_Ins_p.I462fs|SEC31A_ENST00000448323.1_Frame_Shift_Ins_p.I462fs|SEC31A_ENST00000500777.2_Frame_Shift_Ins_p.I462fs|SEC31A_ENST00000326950.5_Frame_Shift_Ins_p.I462fs|SEC31A_ENST00000348405.4_Frame_Shift_Ins_p.I462fs|SEC31A_ENST00000509142.1_Frame_Shift_Ins_p.I462fs|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000508479.1_Frame_Shift_Ins_p.I462fs|SEC31A_ENST00000508502.1_Frame_Shift_Ins_p.I462fs|SEC31A_ENST00000264405.5_Frame_Shift_Ins_p.I234fs|SEC31A_ENST00000443462.2_Frame_Shift_Ins_p.I457fs|SEC31A_ENST00000505984.1_Frame_Shift_Ins_p.I462fs|SEC31A_ENST00000513858.1_Frame_Shift_Ins_p.I462fs	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	462	Interaction with SEC13.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)	p.I462fs*16(2)	SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				AGAAGCATCAATTTTTTTTTGG	0.356																																						ENST00000432794.1																		SEC31A/ALK(3)|SEC31A/JAK2(4)	2	Deletion - Frameshift(2)	p.I462fs*16(2)	lung(2)	breast(1)	1						c.(1384-1386)tgafs		SEC31 homolog A (S. cerevisiae)																																				SO:0001589	frameshift_variant	22872				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding	g.chr4:83785564_83785565insT	AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"""WD repeat domain containing"""	17052	protein-coding gene	gene with protein product		610257	"""SEC31-like 1 (S. cerevisiae)"", ""Sec31 homolog A (S. cerevisiae)"""	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.1385dupA	4.37:g.83785573_83785573dupT	ENSP00000378721:p.Ile462fs					SEC31A_ENST00000348405.4_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000513858.1_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000326950.5_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000264405.5_Frame_Shift_Ins_p.*234fs|SEC31A_ENST00000509142.1_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000508502.1_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000505984.1_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000505472.1_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000448323.1_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000500777.2_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000443462.2_Frame_Shift_Ins_p.*457fs|SEC31A_ENST00000395310.2_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000355196.2_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000311785.7_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000508479.1_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000436790.2_5'UTR	p.*462fs			O94979	SC31A_HUMAN			11	1547_1548	-		Hepatocellular(203;0.114)	462			Interaction with SEC13.		B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Frame_Shift_Ins	INS	ENST00000395310.2	37	c.1384_1385insA	CCDS3596.1																																																																																				0.356	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1	NM_016211		10	460						10	460	---	---	---	---
NUDT9	53343	broad.mit.edu	37	4	88344097	88344098	+	Frame_Shift_Del	DEL	TC	TC	-	rs151296797		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr4:88344097_88344098delTC	ENST00000302174.4	+	1	364_365	c.40_41delTC	c.(40-42)tctfs	p.S14fs	NUDT9_ENST00000473942.1_Intron	NM_024047.4	NP_076952.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 9	14					ADP catabolic process (GO:0046032)|IDP catabolic process (GO:0046709)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrial matrix (GO:0005759)	adenosine-diphosphatase activity (GO:0043262)|ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)			endometrium(1)|large_intestine(4)|lung(6)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000937)		AGCCGCGGTGTCTCTCTCTCTG	0.649																																						ENST00000302174.4																			0				endometrium(1)|large_intestine(4)|lung(6)	11						c.(40-42)tfs		nudix (nucleoside diphosphate linked moiety X)-type motif 9			,	3,4263		1,1,2131					,	4.1	1.0			74	1,8253		0,1,4126	no	intron,frameshift	NUDT9	NM_198038.1,NM_024047.3	,	1,2,6257	A1A1,A1R,RR		0.0121,0.0703,0.0319	,	,		4,12516				SO:0001589	frameshift_variant	53343					mitochondrion	ADP-ribose diphosphatase activity	g.chr4:88344097_88344098delTC	AY026252	CCDS3620.1, CCDS3621.1	4q22.1	2008-08-29			ENSG00000170502	ENSG00000170502		"""Nudix motif containing"""	8056	protein-coding gene	gene with protein product		606022				11385575, 12427752	Standard	NM_024047		Approved	MGC3037	uc003hqq.3	Q9BW91	OTTHUMG00000130591	ENST00000302174.4:c.40_41delTC	4.37:g.88344105_88344106delTC	ENSP00000303575:p.Ser14fs					NUDT9_ENST00000473942.1_Intron	p.S14fs	NM_024047.4	NP_076952.1	Q9BW91	NUDT9_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000937)	1	364_365	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	14					Q8NBN1|Q8NCB9|Q8NG25	Frame_Shift_Del	DEL	ENST00000302174.4	37	c.40_41delTC	CCDS3620.1																																																																																				0.649	NUDT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253035.2			9	496						9	496	---	---	---	---
RRH	10692	broad.mit.edu	37	4	110756541	110756541	+	Frame_Shift_Del	DEL	T	T	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr4:110756541delT	ENST00000317735.4	+	3	351	c.317delT	c.(316-318)attfs	p.I106fs		NM_006583.2	NP_006574.1	O14718	OPSX_HUMAN	retinal pigment epithelium-derived rhodopsin homolog	106					G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	12		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00109)		GGATTGAATATTTTTTTTGGA	0.393																																						ENST00000317735.4																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	12						c.(316-318)atfs		retinal pigment epithelium-derived rhodopsin homolog				67,4199		33,1,2099	139.0	134.0	136.0			5.7	1.0	4		136	92,8162		44,4,4079	no	frameshift	RRH	NM_006583.2		77,5,6178	A1A1,A1R,RR		1.1146,1.5706,1.27			110756541	159,12361	2203	4300	6503	SO:0001589	frameshift_variant	10692				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity	g.chr4:110756541delT	AF012270	CCDS3687.1	4q25	2012-08-08			ENSG00000180245	ENSG00000180245		"""GPCR / Class A : Opsin receptors"""	10450	protein-coding gene	gene with protein product	"""peropsin"""	605224				9275222	Standard	NM_006583		Approved	peropsin	uc003hzv.3	O14718	OTTHUMG00000132045	ENST00000317735.4:c.317delT	4.37:g.110756541delT	ENSP00000314992:p.Ile106fs						p.I106fs	NM_006583.2	NP_006574.1	O14718	OPSX_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00109)	3	351	+		Hepatocellular(203;0.217)	106					A1A4V2|Q7RTS4	Frame_Shift_Del	DEL	ENST00000317735.4	37	c.317delT	CCDS3687.1																																																																																				0.393	RRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255066.1	NM_006583		7	569						7	569	---	---	---	---
EXOSC9	5393	broad.mit.edu	37	4	122723894	122723894	+	Frame_Shift_Del	DEL	T	T	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr4:122723894delT	ENST00000243498.5	+	3	335	c.227delT	c.(226-228)cttfs	p.L76fs	EXOSC9_ENST00000512454.1_Frame_Shift_Del_p.L60fs|EXOSC9_ENST00000379663.3_Frame_Shift_Del_p.L76fs|EXOSC9_ENST00000509980.1_3'UTR	NM_005033.2	NP_005024.2	Q06265	EXOS9_HUMAN	exosome component 9	76	ARE binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|immune response (GO:0006955)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of cell growth (GO:0030307)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|intermediate filament cytoskeleton (GO:0045111)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|AU-rich element binding (GO:0017091)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						GAAGGTATTCTTTTTTTTAAC	0.383																																						ENST00000512454.1																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						c.(178-180)ctfs		exosome component 9							95.0	99.0	98.0					4																	122723894		2203	4300	6503	SO:0001589	frameshift_variant	5393				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|immune response|nuclear mRNA surveillance|nuclear polyadenylation-dependent rRNA catabolic process|positive regulation of cell growth|rRNA processing	cytosol|nuclear exosome (RNase complex)|nucleolus|nucleus	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding	g.chr4:122723894delT	M58460	CCDS3722.2, CCDS34057.1	4q27	2010-05-07	2004-06-16	2004-06-18	ENSG00000123737	ENSG00000123737	3.1.13.-		9137	protein-coding gene	gene with protein product	"""polymyositis/scleroderma autoantigen 1 (75kD)"""	606180	"""polymyositis/scleroderma autoantigen 1, 75kDa"""	PMSCL1			Standard	XR_427545		Approved	PM/Scl-75, Rrp45p, RRP45, p5, p6	uc003idz.3	Q06265	OTTHUMG00000128783	ENST00000243498.5:c.227delT	4.37:g.122723894delT	ENSP00000243498:p.Leu76fs					EXOSC9_ENST00000379663.3_Frame_Shift_Del_p.L76fs|EXOSC9_ENST00000243498.5_Frame_Shift_Del_p.L76fs|EXOSC9_ENST00000509980.1_3'UTR	p.L60fs			Q06265	EXOS9_HUMAN			2	395	+			76			ARE binding.		Q12883|Q4W5P5|Q86Y41|Q86Y48	Frame_Shift_Del	DEL	ENST00000243498.5	37	c.179delT	CCDS3722.2																																																																																				0.383	EXOSC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250708.2	NM_005033		8	719						8	719	---	---	---	---
FAM198B	51313	broad.mit.edu	37	4	159091487	159091489	+	Intron	DEL	GCT	GCT	-	rs370831945		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr4:159091487_159091489delGCT	ENST00000296530.8	-	2	1532				RP11-597D13.9_ENST00000505532.1_RNA|RP11-597D13.9_ENST00000509463.1_RNA|RP11-597D13.9_ENST00000503611.1_RNA|RP11-597D13.9_ENST00000514381.1_RNA|FAM198B_ENST00000592057.1_3'UTR|FAM198B_ENST00000585682.1_Intron|FAM198B_ENST00000589306.1_Intron|FAM198B_ENST00000393807.5_In_Frame_Del_p.307_308AA>A	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B							Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						GGAAAGACACGCTGCTGCTGCTG	0.458																																						ENST00000393807.5																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						c.(919-924)gcg>gc		family with sequence similarity 198, member B																																				SO:0001627	intron_variant	51313					Golgi membrane|integral to membrane		g.chr4:159091487_159091489delGCT		CCDS3798.1, CCDS34087.1	4q32.1	2012-11-29	2009-10-19	2009-10-19	ENSG00000164125	ENSG00000164125			25312	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 18"""	C4orf18		12975309	Standard	NM_001031700		Approved	FLJ38155, DKFZp434L142	uc003ipr.4	Q6UWH4	OTTHUMG00000161537	ENST00000296530.8:c.910+128AGC>-	4.37:g.159091496_159091498delGCT						FAM198B_ENST00000296530.8_Intron|FAM198B_ENST00000589306.1_Intron|FAM198B_ENST00000592057.1_3'UTR|FAM198B_ENST00000585682.1_Intron	p.AA307del	NM_001031700.2	NP_001026870.2	Q6UWH4	F198B_HUMAN			3	1327_1329	-			307					Q498Z3|Q6IAF9|Q6ZMF2|Q86XL0	In_Frame_Del	DEL	ENST00000296530.8	37	c.921_923delAGC	CCDS3798.1																																																																																				0.458	FAM198B-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365230.1	NM_001031700, NM_016613		8	415						8	415	---	---	---	---
TENM3	55714	broad.mit.edu	37	4	183609359	183609359	+	Frame_Shift_Del	DEL	G	G	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr4:183609359delG	ENST00000511685.1	+	12	2199	c.2076delG	c.(2074-2076)atgfs	p.M692fs	TENM3_ENST00000406950.2_Frame_Shift_Del_p.M692fs|TENM3_ENST00000502950.1_3'UTR			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	692	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)										GCGTTTGCATGGGGGGGACGT	0.592																																						ENST00000511685.1																			0											c.(2074-2076)atfs		teneurin transmembrane protein 3							109.0	116.0	113.0					4																	183609359		1969	4158	6127	SO:0001589	frameshift_variant	55714							g.chr4:183609359delG	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.2076delG	4.37:g.183609359delG	ENSP00000424226:p.Met692fs					TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Frame_Shift_Del_p.M692fs	p.M692fs							12	2199	+								Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Frame_Shift_Del	DEL	ENST00000511685.1	37	c.2076delG	CCDS47165.1																																																																																				0.592	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			11	1203						11	1203	---	---	---	---
SORBS2	8470	broad.mit.edu	37	4	186544620	186544622	+	In_Frame_Del	DEL	GGT	GGT	-	rs562339021		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr4:186544620_186544622delGGT	ENST00000284776.7	-	13	2458_2460	c.1949_1951delACC	c.(1948-1953)caccgc>cgc	p.H650del	SORBS2_ENST00000355634.5_In_Frame_Del_p.H750del|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000418609.1_In_Frame_Del_p.H554del|SORBS2_ENST00000431808.1_In_Frame_Del_p.H650del	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	650	His-rich.				actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		ATGAggtggcggtggtggtggtg	0.522																																					Esophageal Squamous(153;41 2433 9491 36028)	ENST00000431808.1																			0				endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53						c.(1948-1953)cgc>c		sorbin and SH3 domain containing 2																																				SO:0001651	inframe_deletion	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186544620_186544622delGGT		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"""Arg/Abl interacting protein"""					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.1949_1951delACC	4.37:g.186544629_186544631delGGT	ENSP00000284776:p.His650del					SORBS2_ENST00000418609.1_In_Frame_Del_p.HR554del|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000355634.5_In_Frame_Del_p.HR750del|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000284776.7_In_Frame_Del_p.HR650del|SORBS2_ENST00000393528.3_Intron	p.HR650del			O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	14	2512_2514	-		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)	650			His-rich.		A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	In_Frame_Del	DEL	ENST00000284776.7	37	c.1949_1951delACC	CCDS3845.1																																																																																				0.522	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		10	413						10	413	---	---	---	---
NPR3	4883	broad.mit.edu	37	5	32789822	32789823	+	3'UTR	DEL	GT	GT	-	rs370388563		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr5:32789822_32789823delGT	ENST00000265074.8	+	0	5340_5341				AC026703.1_ENST00000326958.1_Frame_Shift_Del_p.C106fs	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3						adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	CTGATTTTGGGTGTGTGTGTGT	0.421																																						ENST00000326958.1																			0											c.(313-318)gggtfs																																						SO:0001624	3_prime_UTR_variant	0							g.chr5:32789822_32789823delGT		CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"""guanylate cyclase C"""	108962	"""chromosome 5 open reading frame 23"", ""atrionatriuretic peptide receptor C"", ""natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)"", ""natriuretic peptide receptor C"""	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.*3372GT>-	5.37:g.32789832_32789833delGT						NPR3_ENST00000265074.8_3'UTR	p.GC105fs							1	878_879	+								A2RRD1|B4DT84|E7EPG9	Frame_Shift_Del	DEL	ENST00000265074.8	37	c.315_316delGT	CCDS56357.1																																																																																				0.421	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317550.3	NM_000908		7	581						7	581	---	---	---	---
FGF10	2255	broad.mit.edu	37	5	44388715	44388717	+	In_Frame_Del	DEL	AGC	AGC	-	rs576181814		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr5:44388715_44388717delAGC	ENST00000264664.4	-	1	182_184	c.68_70delGCT	c.(67-72)tgcttt>ttt	p.C23del	RP11-473L15.2_ENST00000502457.1_RNA	NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN	fibroblast growth factor 10	23					actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching morphogenesis of an epithelial tube (GO:0048754)|bronchiole morphogenesis (GO:0060436)|bud elongation involved in lung branching (GO:0060449)|bud outgrowth involved in lung branching (GO:0060447)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell migration (GO:0010631)|epithelial cell proliferation (GO:0050673)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|ERK1 and ERK2 cascade (GO:0070371)|establishment of mitotic spindle orientation (GO:0000132)|Fc-epsilon receptor signaling pathway (GO:0038095)|female genitalia morphogenesis (GO:0048807)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|hair follicle morphogenesis (GO:0031069)|Harderian gland development (GO:0070384)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|keratinocyte proliferation (GO:0043616)|lacrimal gland development (GO:0032808)|limb bud formation (GO:0060174)|lung epithelium development (GO:0060428)|lung proximal/distal axis specification (GO:0061115)|lung saccule development (GO:0060430)|male genitalia morphogenesis (GO:0048808)|mammary gland bud formation (GO:0060615)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal-epithelial cell signaling involved in lung development (GO:0060496)|mesonephros development (GO:0001823)|metanephros development (GO:0001656)|metanephros morphogenesis (GO:0003338)|muscle cell fate commitment (GO:0042693)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|organ induction (GO:0001759)|otic vesicle formation (GO:0030916)|pancreas development (GO:0031016)|phosphatidylinositol-mediated signaling (GO:0048015)|pituitary gland development (GO:0021983)|positive chemotaxis (GO:0050918)|positive regulation of ATPase activity (GO:0032781)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of hair follicle cell proliferation (GO:0071338)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urothelial cell proliferation (GO:0050677)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of white fat cell proliferation (GO:0070352)|prostatic bud formation (GO:0060513)|protein localization to cell surface (GO:0034394)|radial glial cell differentiation (GO:0060019)|regulation of activin receptor signaling pathway (GO:0032925)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of saliva secretion (GO:0046877)|regulation of smoothened signaling pathway (GO:0008589)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|salivary gland development (GO:0007431)|secretion by lung epithelial cell involved in lung growth (GO:0061033)|semicircular canal fusion (GO:0060879)|smooth muscle cell differentiation (GO:0051145)|somatic stem cell maintenance (GO:0035019)|spleen development (GO:0048536)|submandibular salivary gland formation (GO:0060661)|tear secretion (GO:0070075)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|tissue regeneration (GO:0042246)|Type II pneumocyte differentiation (GO:0060510)|urothelial cell proliferation (GO:0050674)|white fat cell differentiation (GO:0050872)|wound healing (GO:0042060)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chemoattractant activity (GO:0042056)|fibroblast growth factor receptor binding (GO:0005104)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|type 2 fibroblast growth factor receptor binding (GO:0005111)			haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					AGCAACAAAAAGCAGCAGCAGCA	0.537																																						ENST00000264664.4																			0				haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13						c.(67-72)ttt>t		fibroblast growth factor 10																																				SO:0001651	inframe_deletion	2255				actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding	g.chr5:44388715_44388717delAGC		CCDS3950.1	5p13-p12	2008-02-05			ENSG00000070193	ENSG00000070193			3666	protein-coding gene	gene with protein product		602115				9287324	Standard	NM_004465		Approved		uc003jog.1	O15520	OTTHUMG00000131153	ENST00000264664.4:c.68_70delGCT	5.37:g.44388724_44388726delAGC	ENSP00000264664:p.Cys23del						p.CF23del	NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN			1	182_184	-	Lung NSC(6;1.12e-06)		23					C7FDY0|Q6FHR3|Q6FHT6|Q96P59	In_Frame_Del	DEL	ENST00000264664.4	37	c.68_70delGCT	CCDS3950.1																																																																																				0.537	FGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253845.2	NM_004465		8	249						8	249	---	---	---	---
TAF9	6880	broad.mit.edu	37	5	68660786	68660788	+	In_Frame_Del	DEL	TCA	TCA	-	rs138635374		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr5:68660786_68660788delTCA	ENST00000328663.4	-	3	1243_1245	c.777_779delTGA	c.(775-780)gatgac>gac	p.259_260DD>D	TAF9_ENST00000512561.1_Intron|TAF9_ENST00000380822.4_Intron|TAF9_ENST00000506736.1_In_Frame_Del_p.259_260DD>D|TAF9_ENST00000380818.3_Intron|TAF9_ENST00000502819.1_Intron|TAF9_ENST00000217893.5_In_Frame_Del_p.259_260DD>D	NM_001015892.1	NP_001015892.1	Q16594	TAF9_HUMAN	TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa	259	Poly-Asp.				cellular response to DNA damage stimulus (GO:0006974)|chromatin organization (GO:0006325)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of cell growth (GO:0030307)|positive regulation of response to cytokine stimulus (GO:0060760)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein stabilization (GO:0050821)|response to interleukin-1 (GO:0070555)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|pre-snoRNP complex (GO:0070761)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	activating transcription factor binding (GO:0033613)|C2H2 zinc finger domain binding (GO:0070742)|DNA binding (GO:0003677)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)		attatcatagtcatcatcatcat	0.33																																						ENST00000328663.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8						c.(775-780)gac>ga		TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa			,,,	1,1,4264		0,0,1,0,1,2131					,,,	3.4	1.0		dbSNP_134	103	5,0,8249		0,0,5,0,0,4122	no	intron,codingComplex,codingComplex,intron	TAF9	NM_016283.4,NM_003187.4,NM_001015892.1,NM_001015891.1	,,,	0,0,6,0,1,6253	A1A1,A1A2,A1R,A2A2,A2R,RR		0.0606,0.0469,0.0559	,,,	,,,		6,1,12513				SO:0001651	inframe_deletion	6880					Cajal body	adenylate kinase activity|ATP binding|protein binding	g.chr5:68660786_68660788delTCA	U21858	CCDS4001.1, CCDS4002.1, CCDS43324.1	5q13.2	2013-09-26	2002-08-29	2001-12-07	ENSG00000085231	ENSG00000085231			11542	protein-coding gene	gene with protein product		600822	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, G, 32kD"""	TAF2G		10191103, 15630091, 16079131	Standard	NM_001015892		Approved	TAFII31, TAFII32, TAFIID32, MGC5067, CGI-137, MGC1603, MGC3647, AD-004	uc003jwa.3	Q16594	OTTHUMG00000099359	ENST00000328663.4:c.777_779delTGA	5.37:g.68660795_68660797delTCA	ENSP00000370193:p.Asp260del					TAF9_ENST00000380818.3_Intron|TAF9_ENST00000502819.1_Intron|TAF9_ENST00000506736.1_In_Frame_Del_p.DD259del|TAF9_ENST00000380822.4_Intron|TAF9_ENST00000217893.5_In_Frame_Del_p.DD259del|TAF9_ENST00000512561.1_Intron	p.DD259del	NM_001015892.1	NP_001015892.1	Q9Y3D8	KAD6_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)	3	1243_1245	-		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)	63					D3DWA3|Q5U0D1|Q9BTS1	In_Frame_Del	DEL	ENST00000328663.4	37	c.777_779delTGA	CCDS4002.1																																																																																				0.330	TAF9-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000216803.1	NM_003187		8	804						8	804	---	---	---	---
TIGD6	81789	broad.mit.edu	37	5	149375600	149375600	+	Frame_Shift_Del	DEL	T	T	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	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		8	1574						8	1574	---	---	---	---
RIOK1	83732	broad.mit.edu	37	6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-	rs2274212|rs368069269	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433																																						ENST00000379834.2																			1	Substitution - Missense(1)	p.D57G(1)	large_intestine(1)	cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(190-192)del		RIO kinase 1																																				SO:0001651	inframe_deletion	83732						ATP binding|protein serine/threonine kinase activity	g.chr6:7393450_7393452delGAC	BC006104	CCDS4500.1	6p24.3	2012-12-10	2012-12-10		ENSG00000124784	ENSG00000124784			18656	protein-coding gene	gene with protein product			"""RIO kinase 1 (yeast)"""				Standard	NM_031480		Approved	AD034, FLJ30006, bA288G3.1, RRP10	uc003mxn.3	Q9BRS2	OTTHUMG00000014207	ENST00000379834.2:c.190_192delGAC	6.37:g.7393450_7393452delGAC	ENSP00000369162:p.Asp69del						p.D69del	NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN			2	697_699	+	Ovarian(93;0.0418)		69					B2RB28|Q8NDC8|Q96NV9	In_Frame_Del	DEL	ENST00000379834.2	37	c.190_192delGAC	CCDS4500.1																																																																																				0.433	RIOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039780.2	NM_031480		10	356						10	356	---	---	---	---
MDFI	4188	broad.mit.edu	37	6	41621169	41621171	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr6:41621169_41621171delCTG	ENST00000373050.4	+	4	601_603	c.414_416delCTG	c.(412-417)ctctgc>ctc	p.C143del				Q99750	MDFI_HUMAN	MyoD family inhibitor	204					activation of JUN kinase activity (GO:0007257)|cytoplasmic sequestering of transcription factor (GO:0042994)|dorsal/ventral axis specification (GO:0009950)|embryo development (GO:0009790)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)			ACTCGTGCCTCTGCTGCTGCTGC	0.655																																						ENST00000373050.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8						c.(412-417)ctc>ct		MyoD family inhibitor																																				SO:0001651	inframe_deletion	4188				cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway	cytoplasm|nucleus		g.chr6:41621169_41621171delCTG	U78313	CCDS4857.1, CCDS75451.1	6p21	2008-08-29			ENSG00000112559	ENSG00000112559			6967	protein-coding gene	gene with protein product	"""inhibitor of MyoD family a"""	604971				9250874, 17289077	Standard	NM_005586		Approved	I-mfa	uc003oqq.4	Q99750	OTTHUMG00000014681	ENST00000373050.4:c.414_416delCTG	6.37:g.41621178_41621180delCTG	ENSP00000362141:p.Cys143del						p.LC138del			Q99750	MDFI_HUMAN	Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)		4	601_603	+	Ovarian(28;0.0327)|Colorectal(47;0.121)		199						In_Frame_Del	DEL	ENST00000373050.4	37	c.414_416delCTG																																																																																					0.655	MDFI-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000040519.2	NM_005586		13	494						13	494	---	---	---	---
MCHR2	84539	broad.mit.edu	37	6	100382358	100382358	+	Frame_Shift_Del	DEL	A	A	-	rs200957067		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr6:100382358delA	ENST00000281806.2	-	5	937	c.623delT	c.(622-624)ttcfs	p.F208fs	MCHR2_ENST00000369212.2_Frame_Shift_Del_p.F208fs	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	208						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.F208fs*5(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		GGGTAGAGGGAAAAAAAAAGT	0.343																																						ENST00000281806.2																			1	Deletion - Frameshift(1)	p.F208fs*5(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39						c.(622-624)tcfs		melanin-concentrating hormone receptor 2			,	6,4258		0,6,2126	84.0	84.0	84.0		,	2.9	1.0	6		86	2,8246		0,2,4122	no	frameshift,frameshift	MCHR2	NM_032503.2,NM_001040179.1	,	0,8,6248	A1A1,A1R,RR		0.0242,0.1407,0.0639	,	,	100382358	8,12504	2203	4297	6500	SO:0001589	frameshift_variant	84539					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:100382358delA	AF347063	CCDS5044.1	6q16	2012-08-08	2006-02-15	2006-02-15	ENSG00000152034	ENSG00000152034		"""GPCR / Class A : MCH receptors"""	20867	protein-coding gene	gene with protein product		606111	"""G protein-coupled receptor 145"""	GPR145		11355873, 11274220	Standard	NM_032503		Approved	SLT, MCH2, MCH2R	uc003pqi.1	Q969V1	OTTHUMG00000015270	ENST00000281806.2:c.623delT	6.37:g.100382358delA	ENSP00000281806:p.Phe208fs					MCHR2_ENST00000369212.1_Frame_Shift_Del_p.F208fs|MCHR2_ENST00000445970.1_Frame_Shift_Del_p.F208fs	p.F208fs	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0429)	5	937	-		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)	208					B3KVW4|E1P5D7|Q5VTV7|Q6Q377|Q9BXA8	Frame_Shift_Del	DEL	ENST00000281806.2	37	c.623delT	CCDS5044.1																																																																																				0.343	MCHR2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041620.2	NM_032503		8	687						8	687	---	---	---	---
PPIL6	285755	broad.mit.edu	37	6	109757309	109757309	+	Frame_Shift_Del	DEL	T	T	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr6:109757309delT	ENST00000521072.2	-	2	809	c.229delA	c.(229-231)aggfs	p.R77fs	PPIL6_ENST00000424445.2_Intron|PPIL6_ENST00000440797.2_Frame_Shift_Del_p.R77fs|AL109947.1_ENST00000459391.1_RNA	NM_173672.4	NP_775943.1	Q8IXY8	PPIL6_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 6	77					protein folding (GO:0006457)		peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259)		TCCTTTACCCTTTTTTTCTCC	0.338																																						ENST00000521072.2																			0				large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(229-231)ggfs		peptidylprolyl isomerase (cyclophilin)-like 6							112.0	120.0	117.0					6																	109757309		2203	4300	6503	SO:0001589	frameshift_variant	285755				protein folding		peptidyl-prolyl cis-trans isomerase activity	g.chr6:109757309delT		CCDS5074.1, CCDS47466.1, CCDS47466.2, CCDS69169.1	6q21	2009-11-18			ENSG00000185250	ENSG00000185250			21557	protein-coding gene	gene with protein product	"""radial spoke 12 homolog (Chlamydomonas)"""						Standard	NM_173672		Approved	bA425D10.6, MGC41939, dJ919F19.1, RSPH12	uc010kdp.3	Q8IXY8	OTTHUMG00000036593	ENST00000521072.2:c.229delA	6.37:g.109757309delT	ENSP00000427929:p.Arg77fs					PPIL6_ENST00000440797.2_Frame_Shift_Del_p.R77fs|PPIL6_ENST00000424445.2_Intron	p.R77fs	NM_173672.4	NP_775943.1	Q8IXY8	PPIL6_HUMAN		Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259)	2	809	-		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)	77					A9NIU0|A9NIU9|E7EX15	Frame_Shift_Del	DEL	ENST00000521072.2	37	c.229delA	CCDS5074.1																																																																																				0.338	PPIL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089003.4			7	1018						7	1018	---	---	---	---
ARHGAP18	93663	broad.mit.edu	37	6	129959602	129959603	+	Frame_Shift_Ins	INS	-	-	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr6:129959602_129959603insT	ENST00000368149.2	-	3	576_577	c.488_489insA	c.(487-489)aacfs	p.N163fs		NM_033515.2	NP_277050.2			Rho GTPase activating protein 18											NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		GGTACTGTTTGTTTTTTTTCCT	0.421																																						ENST00000368149.2																			0				NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18						c.(487-489)aaafs		Rho GTPase activating protein 18																																				SO:0001589	frameshift_variant	93663				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr6:129959602_129959603insT	AB053293	CCDS34535.1	6q23.1	2011-06-29			ENSG00000146376	ENSG00000146376		"""Rho GTPase activating proteins"""	21035	protein-coding gene	gene with protein product		613351					Standard	NM_033515		Approved	MacGAP, bA307O14.2	uc003qbr.3	Q8N392	OTTHUMG00000015547	ENST00000368149.2:c.489dupA	6.37:g.129959610_129959610dupT	ENSP00000357131:p.Asn163fs						p.K163fs	NM_033515.2	NP_277050.2	Q8N392	RHG18_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)	3	576_577	-			163						Frame_Shift_Ins	INS	ENST00000368149.2	37	c.488_489insA	CCDS34535.1																																																																																				0.421	ARHGAP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042185.2	NM_033515		8	896						8	896	---	---	---	---
ZDHHC4	55146	broad.mit.edu	37	7	6621848	6621849	+	Frame_Shift_Ins	INS	-	-	T	rs34551853		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr7:6621848_6621849insT	ENST00000396706.2	+	5	779_780	c.336_337insT	c.(337-339)tttfs	p.F113fs	AC079742.4_ENST00000434951.1_RNA|ZDHHC4_ENST00000396709.1_Frame_Shift_Ins_p.F113fs|ZDHHC4_ENST00000396713.2_Frame_Shift_Ins_p.F113fs|ZDHHC4_ENST00000335965.6_Frame_Shift_Ins_p.F113fs|ZDHHC4_ENST00000396707.2_Frame_Shift_Ins_p.F113fs|ZDHHC4_ENST00000405731.3_Frame_Shift_Ins_p.F113fs			Q9NPG8	ZDHC4_HUMAN	zinc finger, DHHC-type containing 4	113						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.F115fs*3(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)		GTGTAAACCTGTTTTTTTTCAC	0.45																																						ENST00000396706.2																			2	Deletion - Frameshift(2)	p.F115fs*3(2)	ovary(1)|large_intestine(1)	breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(334-339)ctttttfs		zinc finger, DHHC-type containing 4																																				SO:0001589	frameshift_variant	55146					integral to membrane	acyltransferase activity|zinc ion binding	g.chr7:6621848_6621849insT	AF201931	CCDS5352.1	7p22.1	2011-01-11			ENSG00000136247	ENSG00000136247		"""Zinc fingers, DHHC-type"""	18471	protein-coding gene	gene with protein product							Standard	NM_018106		Approved	FLJ10479, ZNF374	uc003sqj.3	Q9NPG8	OTTHUMG00000023579	ENST00000396706.2:c.344dupT	7.37:g.6621856_6621856dupT	ENSP00000379934:p.Phe113fs					ZDHHC4_ENST00000405731.3_Frame_Shift_Ins_p.LF112fs|ZDHHC4_ENST00000396709.1_Frame_Shift_Ins_p.LF112fs|AC079742.4_ENST00000434951.1_RNA|ZDHHC4_ENST00000396713.2_Frame_Shift_Ins_p.LF112fs|ZDHHC4_ENST00000396707.2_Frame_Shift_Ins_p.LF112fs|ZDHHC4_ENST00000335965.6_Frame_Shift_Ins_p.LF112fs	p.LF112fs			Q9NPG8	ZDHC4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)	5	779_780	+		Ovarian(82;0.232)	112					A4D2N9|Q53EV7|Q6FIB5|Q9H0R9	Frame_Shift_Ins	INS	ENST00000396706.2	37	c.336_337insT	CCDS5352.1																																																																																				0.450	ZDHHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207477.3	NM_018106		9	1046						9	1046	---	---	---	---
DPY19L2P1	554236	broad.mit.edu	37	7	35131561	35131562	+	RNA	INS	-	-	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr7:35131561_35131562insA	ENST00000436258.1	-	0	1811							Q6NXN4	D19P1_HUMAN	DPY19L2 pseudogene 1							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										GACAGCATCTGAAAAAAAAGGA	0.371																																						ENST00000436258.1																			0																																																			0							g.chr7:35131561_35131562insA	BC066987		7p14.2	2014-03-18	2013-09-12		ENSG00000189212	ENSG00000189212			22305	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 1 (C. elegans)"""				Standard	NR_002833		Approved		uc031swy.1	Q6NXN4	OTTHUMG00000155026		7.37:g.35131569_35131569dupA														0	1811	-								B4E2E3	RNA	INS	ENST00000436258.1	37																																																																																						0.371	DPY19L2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000338113.1			9	315						9	315	---	---	---	---
PMS2P4	5382	broad.mit.edu	37	7	66762433	66762433	+	RNA	DEL	A	A	-	rs530279026	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr7:66762433delA	ENST00000414507.1	-	0	184				Y_RNA_ENST00000364695.1_RNA					postmeiotic segregation increased 2 pseudogene 4																		tctcaaaaagaaaaaaaaaaa	0.408													|||unknown(HR)	2771	0.553315	0.6127	0.5648	5008	,	,		17205	0.5159		0.5129	False		,,,				2504	0.545					ENST00000414507.1																			0																																																			0							g.chr7:66762433delA	D38438		7q11.22	2010-10-26	2010-10-26	2010-10-26	ENSG00000067601	ENSG00000067601			9129	pseudogene	pseudogene	"""PMS2 pseudogene"""		"""postmeiotic segregation increased 2-like 4"", ""postmeiotic segregation increased 2-like 4 pseudogene"""	PMS2L4		8586419	Standard	NR_046297		Approved	PMS6	uc003tvo.3		OTTHUMG00000156923		7.37:g.66762433delA														0	184	-									RNA	DEL	ENST00000414507.1	37																																																																																						0.408	PMS2P4-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000346632.1	NR_022007		10	46						10	46	---	---	---	---
PCLO	27445	broad.mit.edu	37	7	82595385	82595385	+	Frame_Shift_Del	DEL	T	T	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr7:82595385delT	ENST00000333891.9	-	4	4056	c.3719delA	c.(3718-3720)aagfs	p.K1240fs	PCLO_ENST00000423517.2_Frame_Shift_Del_p.K1240fs	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGGGGTTGGCTTTTTTTCTTC	0.383																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(3718-3720)agfs		piccolo presynaptic cytomatrix protein							241.0	235.0	237.0					7																	82595385		1809	4074	5883	SO:0001589	frameshift_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82595385delT	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.3719delA	7.37:g.82595385delT	ENSP00000334319:p.Lys1240fs					PCLO_ENST00000333891.8_Frame_Shift_Del_p.K1240fs	p.K1240fs	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			4	4056	-			1179						Frame_Shift_Del	DEL	ENST00000333891.9	37	c.3719delA	CCDS47630.1																																																																																				0.383	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		12	1685						12	1685	---	---	---	---
STEAP2	261729	broad.mit.edu	37	7	89856465	89856465	+	Frame_Shift_Del	DEL	T	T	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr7:89856465delT	ENST00000287908.3	+	3	1066	c.673delT	c.(673-675)tttfs	p.F227fs	STEAP2_ENST00000394622.2_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000394626.1_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000402625.2_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000394621.2_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000394632.1_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000394629.2_Frame_Shift_Del_p.F227fs	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	227					copper ion import (GO:0015677)|endocytosis (GO:0006897)|ferric iron import into cell (GO:0097461)|Golgi to plasma membrane transport (GO:0006893)|iron ion homeostasis (GO:0055072)|regulated secretory pathway (GO:0045055)|response to hormone (GO:0009725)	cytosol (GO:0005829)|early endosome (GO:0005769)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					CTTGGCCACATTTTTTTTCCT	0.393																																						ENST00000287908.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						c.(673-675)ttfs		STEAP family member 2, metalloreductase							108.0	103.0	105.0					7																	89856465		2203	4300	6503	SO:0001589	frameshift_variant	261729				electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity	g.chr7:89856465delT	AF455138	CCDS5615.1, CCDS43612.1, CCDS59064.1	7q21.13	2011-09-30	2011-09-30		ENSG00000157214	ENSG00000157214			17885	protein-coding gene	gene with protein product		605094	"""prostate cancer associated protein 1"", ""six transmembrane epithelial antigen of the prostate 2"""	PCANAP1		10613842, 12095985	Standard	NM_001040665		Approved	IPCA-1, STAMP1, STMP	uc003ujz.3	Q8NFT2	OTTHUMG00000023341	ENST00000287908.3:c.673delT	7.37:g.89856465delT	ENSP00000287908:p.Phe227fs					STEAP2_ENST00000394632.1_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000394622.2_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000394629.2_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000394621.2_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000394626.1_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000402625.2_Frame_Shift_Del_p.F227fs	p.F227fs	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN			3	1066	+	all_hematologic(106;0.112)		227					A4D1F1|G5E9C6|Q6UXN6|Q6YPB1|Q8IUE7	Frame_Shift_Del	DEL	ENST00000287908.3	37	c.673delT	CCDS5615.1																																																																																				0.393	STEAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059662.4	NM_152999		12	725						12	725	---	---	---	---
ZAN	7455	broad.mit.edu	37	7	100333192	100333193	+	RNA	INS	-	-	A	rs112964818	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr7:100333192_100333193insA	ENST00000348028.3	+	0	218				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			aaaaagaaaagaaaaaaagaaa	0.426													AAAaAAAA|AAAAAAA|AAAAAAAA|deletion	809	0.161542	0.3245	0.0749	5008	,	,		15162	0.0764		0.0577	False		,,,				2504	0.1973					ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)																																						7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100333192_100333193insA	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100333199_100333199dupA						ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	201	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	INS	ENST00000348028.3	37																																																																																						0.426	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		6	3						6	3	---	---	---	---
PRSS3P2	154754	broad.mit.edu	37	7	142482025	142482025	+	RNA	DEL	A	A	-	rs370076329		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr7:142482025delA	ENST00000603901.1	+	0	591					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)										TGCAGTGCCCACATGGAGAAG	0.572																																						ENST00000603901.1																			0																																																			0							g.chr7:142482025delA			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142482025delA								NR_001296.3						0	591	+									RNA	DEL	ENST00000603901.1	37																																																																																						0.572	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		8	40						8	40	---	---	---	---
USP17L2	377630	broad.mit.edu	37	8	11994626	11994627	+	IGR	DEL	GT	GT	-	rs576201574		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr8:11994626_11994627delGT	ENST00000333796.3	-	0	1910				FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2						apoptotic process (GO:0006915)|CAAX-box protein processing (GO:0071586)|cell cycle checkpoint (GO:0000075)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of protein processing (GO:0010955)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of Ras GTPase activity (GO:0034261)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of RIG-I signaling pathway (GO:1900246)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of apoptotic process (GO:0042981)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of defense response to virus by host (GO:0050691)|regulation of ruffle assembly (GO:1900027)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						gtatttgtgcgtgtgtgtgtgt	0.51																																						ENST00000434078.2																			0																																																	SO:0001628	intergenic_variant	0							g.chr8:11994626_11994627delGT	BC156290	CCDS43713.1	8p23.1	2012-10-09	2012-10-09		ENSG00000223443	ENSG00000223443			34434	protein-coding gene	gene with protein product	"""deubiquitinating enzyme 3"""	610186	"""ubiquitin specific peptidase 17-like 2"""				Standard	NM_201402		Approved	DUB3	uc003wvc.1	Q6R6M4	OTTHUMG00000165295		8.37:g.11994636_11994637delGT								NR_027425.1						0	608	+									RNA	DEL	ENST00000333796.3	37		CCDS43713.1																																																																																				0.510	USP17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383303.2	NM_201402		24	228						24	228	---	---	---	---
WRN	7486	broad.mit.edu	37	8	30945377	30945379	+	In_Frame_Del	DEL	AAG	AAG	-	rs555283914	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr8:30945377_30945379delAAG	ENST00000298139.5	+	12	1766_1768	c.1517_1519delAAG	c.(1516-1521)aaagaa>aaa	p.E510del		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	510	Poly-Glu.				aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CTTCCTACTAaagaagaagaaga	0.36			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome					3	0.000599042	0.0	0.0	5008	,	,		22085	0.001		0.001	False		,,,				2504	0.001				Ovarian(18;161 598 2706 14834 27543)	ENST00000298139.5			yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	"""Mis, N, F, S"""	Werner syndrome (RECQL2)			"""L, E, M, O"""		"""osteosarcoma, meningioma, others"""			0				central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60						c.(1516-1521)aaa>a	Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome, RecQ helicase-like																																				SO:0001651	inframe_deletion	7486	Werner syndrome	Familial Cancer Database	WS, Adult Progeria	base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	g.chr8:30945377_30945379delAAG		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"""Werner syndrome"""			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.1517_1519delAAG	8.37:g.30945386_30945388delAAG	ENSP00000298139:p.Glu510del						p.KE506del	NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)	12	1766_1768	+		Breast(100;0.195)	506					A1KYY9	In_Frame_Del	DEL	ENST00000298139.5	37	c.1517_1519delAAG	CCDS6082.1																																																																																				0.360	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1			9	489						9	489	---	---	---	---
LOC105375875	105375875	broad.mit.edu	37	8	64322187	64322188	+	lincRNA	INS	-	-	A	rs34341678	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr8:64322187_64322188insA	ENST00000521221.1	-	0	694																											TGCTCCTGGTTAAAAAAAAAAA	0.48																																						ENST00000521221.1																			0																																																			0							g.chr8:64322187_64322188insA																													8.37:g.64322198_64322198dupA														0	694	-									RNA	INS	ENST00000521221.1	37																																																																																						0.480	CTD-3046C4.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000378589.1			3	3						3	3	---	---	---	---
RGS22	26166	broad.mit.edu	37	8	101076229	101076229	+	Frame_Shift_Del	DEL	T	T	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr8:101076229delT	ENST00000360863.6	-	8	961	c.767delA	c.(766-768)aagfs	p.K256fs	RGS22_ENST00000523287.1_Frame_Shift_Del_p.K75fs|RGS22_ENST00000523437.1_Frame_Shift_Del_p.K244fs	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	256					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			AGATGGGTCCTTTTTTGTCCT	0.328																																						ENST00000360863.6																		RGS22/SYCP1(2)	0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68						c.(766-768)agfs		regulator of G-protein signaling 22							132.0	137.0	136.0					8																	101076229		1803	4063	5866	SO:0001589	frameshift_variant	26166				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr8:101076229delT	AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"""Regulators of G-protein signaling"""	24499	protein-coding gene	gene with protein product		615650	"""regulator of G-protein signalling 22"""				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.767delA	8.37:g.101076229delT	ENSP00000354109:p.Lys256fs					RGS22_ENST00000523437.1_Frame_Shift_Del_p.K244fs|RGS22_ENST00000523287.1_Frame_Shift_Del_p.K75fs	p.K256fs	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)		8	961	-			256					A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Frame_Shift_Del	DEL	ENST00000360863.6	37	c.767delA	CCDS43758.1																																																																																				0.328	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1	NM_015668		8	1471						8	1471	---	---	---	---
ANXA13	312	broad.mit.edu	37	8	124707762	124707762	+	Frame_Shift_Del	DEL	T	T	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr8:124707762delT	ENST00000419625.1	-	6	523	c.451delA	c.(451-453)atcfs	p.I151fs	ANXA13_ENST00000262219.6_Frame_Shift_Del_p.I192fs	NM_004306.2	NP_004297.2	P27216	ANX13_HUMAN	annexin A13	151					cell differentiation (GO:0030154)|negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|exocytic vesicle (GO:0070382)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylglycerol binding (GO:1901611)|phosphatidylserine binding (GO:0001786)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			GACACCAGGATTTTTTTTAGG	0.413																																						ENST00000262219.6																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25						c.(574-576)tcfs		annexin A13							150.0	148.0	149.0					8																	124707762		2203	4300	6503	SO:0001589	frameshift_variant	312				cell differentiation	plasma membrane	calcium ion binding|calcium-dependent phospholipid binding	g.chr8:124707762delT	Z11502	CCDS34939.1, CCDS47917.1	8q24.13	2005-11-09			ENSG00000104537	ENSG00000104537		"""Annexins"""	536	protein-coding gene	gene with protein product		602573		ANX13		9503022	Standard	NM_004306		Approved		uc003yqt.3	P27216	OTTHUMG00000164987	ENST00000419625.1:c.451delA	8.37:g.124707762delT	ENSP00000390809:p.Ile151fs					ANXA13_ENST00000419625.1_Frame_Shift_Del_p.I151fs	p.I192fs	NM_001003954.1	NP_001003954.1	P27216	ANX13_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		7	641	-	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		151					Q9BQR5	Frame_Shift_Del	DEL	ENST00000419625.1	37	c.574delA	CCDS47917.1																																																																																				0.413	ANXA13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381308.1	NM_004306		7	993						7	993	---	---	---	---
RANBP6	26953	broad.mit.edu	37	9	6012690	6012690	+	Frame_Shift_Del	DEL	T	T	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr9:6012690delT	ENST00000259569.5	-	1	2928	c.2918delA	c.(2917-2919)aatfs	p.N973fs	RANBP6_ENST00000485372.1_5'Flank	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	973					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.N973fs*12(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		AGCAATGACATTTTTTTTGGT	0.358																																						ENST00000259569.5																			1	Deletion - Frameshift(1)	p.N973fs*12(1)	ovary(1)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(2917-2919)atfs		RAN binding protein 6							109.0	102.0	104.0					9																	6012690		2203	4300	6503	SO:0001589	frameshift_variant	26953				protein transport	cytoplasm|nucleus	binding	g.chr9:6012690delT	AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.2918delA	9.37:g.6012690delT	ENSP00000259569:p.Asn973fs						p.N973fs	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)	1	2928	-		Acute lymphoblastic leukemia(23;0.158)	973					Q5T7X4|Q7Z3V2|Q96E78	Frame_Shift_Del	DEL	ENST00000259569.5	37	c.2918delA	CCDS6467.1																																																																																				0.358	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051650.1	NM_012416		7	511						7	511	---	---	---	---
PCSK5	5125	broad.mit.edu	37	9	78973707	78973709	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr9:78973707_78973709delGAT	ENST00000545128.1	+	37	5990_5992	c.5452_5454delGAT	c.(5452-5454)gatdel	p.D1822del		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	1822	AC 1. {ECO:0000250}.|Asp-rich.				anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CTATGATGAGGATGATGATGATG	0.468																																						ENST00000545128.1																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(5452-5454)del		proprotein convertase subtilisin/kexin type 5																																				SO:0001651	inframe_deletion	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78973707_78973709delGAT		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.5452_5454delGAT	9.37:g.78973716_78973718delGAT	ENSP00000446280:p.Asp1822del						p.D1822del	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN			37	5990_5992	+			639					F5H2G7|Q13527|Q96EP4	In_Frame_Del	DEL	ENST00000545128.1	37	c.5452_5454delGAT	CCDS55320.1																																																																																				0.468	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				7	997						7	997	---	---	---	---
OR13C5	138799	broad.mit.edu	37	9	107361451	107361452	+	Frame_Shift_Del	DEL	GC	GC	-	rs376107801|rs201540433|rs377523807|rs199665292	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr9:107361451_107361452delGC	ENST00000374779.2	-	1	336_337	c.243_244delGC	c.(241-246)acgctafs	p.L82fs		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	82						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						AAGCTCACTAGCGTGGAGGGAA	0.51																																						ENST00000374779.2																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						c.(241-246)actafs		olfactory receptor, family 13, subfamily C, member 5																																				SO:0001589	frameshift_variant	138799				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107361451_107361452delGC		CCDS35091.1	9q31.1	2012-10-03			ENSG00000255800	ENSG00000277556		"""GPCR / Class A : Olfactory receptors"""	15100	protein-coding gene	gene with protein product							Standard	NM_001004482		Approved		uc011lvp.2	Q8NGS8	OTTHUMG00000020408	ENST00000374779.2:c.243_244delGC	9.37:g.107361451_107361452delGC	ENSP00000363911:p.Leu82fs						p.TL81fs	NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN			1	336_337	-			81					B2RNE5|B9EGW5|Q6IF53	Frame_Shift_Del	DEL	ENST00000374779.2	37	c.243_244delGC	CCDS35091.1																																																																																				0.510	OR13C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053479.2	NM_001004482		9	205						9	205	---	---	---	---
PCDH15	65217	broad.mit.edu	37	10	55587198	55587200	+	In_Frame_Del	DEL	GGC	GGC	-	rs12246234		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr10:55587198_55587200delGGC	ENST00000320301.6	-	32	4714_4716	c.4320_4322delGCC	c.(4318-4323)ccgcct>cct	p.1440_1441PP>P	PCDH15_ENST00000395430.1_In_Frame_Del_p.1437_1438PP>P|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000373965.2_In_Frame_Del_p.1447_1448PP>P|PCDH15_ENST00000395433.1_In_Frame_Del_p.1415_1416PP>P|PCDH15_ENST00000437009.1_In_Frame_Del_p.1369_1370PP>P|PCDH15_ENST00000409834.1_In_Frame_Del_p.1051_1052PP>P|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395432.2_In_Frame_Del_p.1400_1401PP>P|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000414778.1_In_Frame_Del_p.1442_1443PP>P|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000361849.3_In_Frame_Del_p.1440_1441PP>P|PCDH15_ENST00000395445.1_In_Frame_Del_p.1447_1448PP>P|PCDH15_ENST00000395438.1_In_Frame_Del_p.1440_1441PP>P	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1440	Poly-Pro.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ACCTggcggaggcggcggcggcg	0.571										HNSCC(58;0.16)																												ENST00000373965.2																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(4339-4344)cct>cc		protocadherin-related 15																																				SO:0001651	inframe_deletion	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55587198_55587200delGGC	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.4320_4322delGCC	10.37:g.55587207_55587209delGGC	ENSP00000322604:p.Pro1443del	HNSCC(58;0.16)				PCDH15_ENST00000437009.1_In_Frame_Del_p.PP1371del|PCDH15_ENST00000414778.1_In_Frame_Del_p.PP1444del|PCDH15_ENST00000361849.3_In_Frame_Del_p.PP1442del|PCDH15_ENST00000395438.1_In_Frame_Del_p.PP1442del|PCDH15_ENST00000409834.1_In_Frame_Del_p.PP1053del|PCDH15_ENST00000395445.1_In_Frame_Del_p.PP1449del|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000320301.6_In_Frame_Del_p.PP1442del|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395432.2_In_Frame_Del_p.PP1402del|PCDH15_ENST00000395433.1_In_Frame_Del_p.PP1417del|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395430.1_In_Frame_Del_p.PP1439del	p.PP1449del	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			33	4735_4737	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1442					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	In_Frame_Del	DEL	ENST00000320301.6	37	c.4341_4343delGCC	CCDS7248.1																																																																																				0.571	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		8	411						8	411	---	---	---	---
DDX50	79009	broad.mit.edu	37	10	70666692	70666693	+	Frame_Shift_Ins	INS	-	-	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr10:70666692_70666693insA	ENST00000373585.3	+	2	420_421	c.313_314insA	c.(313-315)gaafs	p.E105fs		NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	105						membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						AGATGAATATGAAAAAAAATCA	0.307																																						ENST00000373585.3																			0				breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						c.(313-315)aaafs		DEAD (Asp-Glu-Ala-Asp) box polypeptide 50																																				SO:0001589	frameshift_variant	79009					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr10:70666692_70666693insA	AF334103	CCDS7283.1	10q22.2	2010-09-30			ENSG00000107625	ENSG00000107625		"""DEAD-boxes"""	17906	protein-coding gene	gene with protein product		610373				11891046	Standard	NM_024045		Approved	GU2, MGC3199, GUB, RH-II/GuB	uc001jou.3	Q9BQ39	OTTHUMG00000018362	ENST00000373585.3:c.321dupA	10.37:g.70666700_70666700dupA	ENSP00000362687:p.Glu105fs						p.K105fs	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN			2	420_421	+			105					Q5VX37|Q8WV76|Q9BWI8	Frame_Shift_Ins	INS	ENST00000373585.3	37	c.313_314insA	CCDS7283.1																																																																																				0.307	DDX50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048363.1	NM_024045		7	889						7	889	---	---	---	---
LINC00857	439990	broad.mit.edu	37	10	81975483	81975486	+	lincRNA	DEL	TCTT	TCTT	-	rs61081450|rs201913614		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr10:81975483_81975486delTCTT	ENST00000422847.1	+	0	522					NR_038464.1				long intergenic non-protein coding RNA 857																		tctttctttctctttctttctttc	0.407																																						ENST00000422847.1																			0																																																			0							g.chr10:81975483_81975486delTCTT			10q22.3	2013-02-15			ENSG00000237523	ENSG00000237523		"""Long non-coding RNAs"""	45114	non-coding RNA	RNA, long non-coding							Standard	NR_038464		Approved		uc001kbv.3		OTTHUMG00000018605		10.37:g.81975491_81975494delTCTT								NR_038464.1						0	522	+									RNA	DEL	ENST00000422847.1	37																																																																																						0.407	LINC00857-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000049054.1	NR_038464		6	5						6	5	---	---	---	---
OR8I2	120586	broad.mit.edu	37	11	55861308	55861308	+	Frame_Shift_Del	DEL	T	T	-	rs112181516		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr11:55861308delT	ENST00000302124.2	+	1	556	c.525delT	c.(523-525)catfs	p.H175fs		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	175						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C178fs*2(1)		NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					GCATCAATCATTTTTTTTGTG	0.443																																						ENST00000302124.2																			1	Insertion - Frameshift(1)	p.C178fs*2(1)	large_intestine(1)	NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53						c.(523-525)cafs		olfactory receptor, family 8, subfamily I, member 2							154.0	146.0	149.0					11																	55861308		2201	4296	6497	SO:0001589	frameshift_variant	120586				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55861308delT	AB065656	CCDS31517.1	11q11	2012-08-09			ENSG00000172154	ENSG00000172154		"""GPCR / Class A : Olfactory receptors"""	15310	protein-coding gene	gene with protein product							Standard	NM_001003750		Approved		uc010rix.2	Q8N0Y5	OTTHUMG00000166831	ENST00000302124.2:c.525delT	11.37:g.55861308delT	ENSP00000303864:p.His175fs					OR8I2_ENST00000560768.1_Frame_Shift_Del_p.H175fs	p.H175fs			Q8N0Y5	OR8I2_HUMAN			1	556	+	Esophageal squamous(21;0.00693)		175					B2RNN4|Q6IFC0|Q96RC5	Frame_Shift_Del	DEL	ENST00000302124.2	37	c.525delT	CCDS31517.1																																																																																				0.443	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001003750		12	811						12	811	---	---	---	---
B3GNT6	192134	broad.mit.edu	37	11	76751585	76751585	+	Frame_Shift_Del	DEL	T	T	-	rs11292199		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr11:76751585delT	ENST00000533140.1	+	2	1128	c.990delT	c.(988-990)cctfs	p.P330fs	B3GNT6_ENST00000421061.1_Splice_Site|B3GNT6_ENST00000354301.5_Splice_Site_p.W330fs			O43505	B3GN1_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 (core 3 synthase)	0					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|poly-N-acetyllactosamine biosynthetic process (GO:0030311)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity (GO:0008532)			central_nervous_system(1)|kidney(2)|lung(4)|prostate(1)	8						GAGGGCATCCTGGCCCTTCGG	0.697													-|T|-|insertion	5008	1.0	1.0	1.0	5008	,	,		14204	1.0		1.0	False		,,,				2504	1.0					ENST00000533140.1																			0				central_nervous_system(1)|kidney(2)|lung(4)|prostate(1)	8						c.(988-990)ccfs		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 (core 3 synthase)							6.0	5.0	6.0					11																	76751585		1175	2610	3785	SO:0001589	frameshift_variant	192134				O-glycan processing, core 3	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity|galactosyltransferase activity	g.chr11:76751585delT	AB073740	CCDS53681.1	11q13.4	2013-02-19			ENSG00000198488	ENSG00000198488		"""Beta 3-glycosyltransferases"""	24141	protein-coding gene	gene with protein product		615315				11821425	Standard	NM_138706		Approved	B3Gn-T6	uc021qnp.1	Q6ZMB0		ENST00000533140.1:c.990delT	11.37:g.76751585delT	ENSP00000435352:p.Pro330fs					B3GNT6_ENST00000421061.1_Splice_Site|B3GNT6_ENST00000354301.5_Splice_Site_p.W330_splice	p.P330fs			Q6ZMB0	B3GN6_HUMAN			2	1128	+			327					Q4TTN0	Frame_Shift_Del	DEL	ENST00000533140.1	37	c.990delT	CCDS53681.1																																																																																				0.697	B3GNT6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000382740.2	NM_138706		4	2						4	2	---	---	---	---
BCL9L	283149	broad.mit.edu	37	11	118773004	118773004	+	Frame_Shift_Del	DEL	G	G	-	rs147951163	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr11:118773004delG	ENST00000334801.3	-	6	2412	c.1448delC	c.(1447-1449)ccgfs	p.P483fs	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	483	Necessary for interaction with CTNNB1. {ECO:0000250}.|Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		ATGCTCCAGCGGGGGGCCCCC	0.642																																						ENST00000334801.3																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56						c.(1447-1449)cgfs		B-cell CLL/lymphoma 9-like				23,4115		3,17,2049	50.0	62.0	58.0			-2.9	0.5	11		59	32,8100		3,26,4037	no	frameshift	BCL9L	NM_182557.2		6,43,6086	A1A1,A1R,RR		0.3935,0.5558,0.4482			118773004	55,12215	2158	4253	6411	SO:0001589	frameshift_variant	283149				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity	g.chr11:118773004delG	AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.1448delC	11.37:g.118773004delG	ENSP00000335320:p.Pro483fs					BCL9L_ENST00000526143.1_5'UTR	p.P483fs	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)	6	2412	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)	483			Necessary for interaction with CTNNB1 (By similarity).|Pro-rich.		A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Frame_Shift_Del	DEL	ENST00000334801.3	37	c.1448delC	CCDS8403.1																																																																																				0.642	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557		7	824						7	824	---	---	---	---
CHD4	1108	broad.mit.edu	37	12	6711207	6711209	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr12:6711207_6711209delCTT	ENST00000357008.2	-	4	518_520	c.355_357delAAG	c.(355-357)aagdel	p.K119del	CHD4_ENST00000544484.1_In_Frame_Del_p.K116del|CHD4_ENST00000309577.6_In_Frame_Del_p.K119del|CHD4_ENST00000544040.1_In_Frame_Del_p.K112del	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	119	Poly-Lys.				ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)	p.K119delK(3)		central_nervous_system(2)	2						TAGGTCCAAGCTTCTTCTTCTTC	0.537																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			3	Deletion - In frame(3)	p.K119delK(3)	central_nervous_system(3)	central_nervous_system(2)	2						c.(355-357)del		chromodomain helicase DNA binding protein 4				115,4123		4,107,2008						4.7	1.0			29	227,7995		2,223,3886	no	coding	CHD4	NM_001273.2		6,330,5894	A1A1,A1R,RR		2.7609,2.7135,2.7448				342,12118				SO:0001651	inframe_deletion	1108				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|zinc ion binding	g.chr12:6711207_6711209delCTT	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.355_357delAAG	12.37:g.6711216_6711218delCTT	ENSP00000349508:p.Lys119del					CHD4_ENST00000544484.1_In_Frame_Del_p.K116del|CHD4_ENST00000357008.2_In_Frame_Del_p.K119del|CHD4_ENST00000544040.1_In_Frame_Del_p.K112del	p.K119del			Q14839	CHD4_HUMAN			4	518_520	-			119			Poly-Lys.		Q8IXZ5	In_Frame_Del	DEL	ENST00000357008.2	37	c.355_357delAAG	CCDS8552.1																																																																																				0.537	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		8	217						8	217	---	---	---	---
SCAF11	9169	broad.mit.edu	37	12	46318575	46318577	+	In_Frame_Del	DEL	GGT	GGT	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr12:46318575_46318577delGGT	ENST00000369367.3	-	12	4073_4075	c.3840_3842delACC	c.(3838-3843)ccaccc>ccc	p.1280_1281PP>P	SCAF11_ENST00000549162.1_In_Frame_Del_p.1088_1089PP>P|SCAF11_ENST00000419565.2_In_Frame_Del_p.1280_1281PP>P|SCAF11_ENST00000550629.1_5'Flank|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_ENST00000369367.3_In_Frame_Del_p.PP1284del|SCAF11_ENST00000419565.2_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		7	477						7	477	---	---	---	---
KRT73	319101	broad.mit.edu	37	12	53001991	53001991	+	Frame_Shift_Del	DEL	T	T	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr12:53001991delT	ENST00000305748.3	-	9	1646	c.1612delA	c.(1612-1614)accfs	p.T538fs	RP11-641A6.2_ENST00000551089.1_RNA|RP11-641A6.2_ENST00000552364.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	538	Tail.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		TATCTCATGGTTTTTTTGGTG	0.532																																						ENST00000305748.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(1612-1614)ccfs		keratin 73				2,4262		1,0,2131	239.0	258.0	252.0			2.0	0.6	12		254	19,8235		8,3,4116	no	frameshift	KRT73	NM_175068.2		9,3,6247	A1A1,A1R,RR		0.2302,0.0469,0.1678			53001991	21,12497	2203	4300	6503	SO:0001589	frameshift_variant	319101					keratin filament	structural molecule activity	g.chr12:53001991delT	AJ508776	CCDS8834.1	12q13.13	2013-06-25			ENSG00000186049	ENSG00000186049		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28928	protein-coding gene	gene with protein product		608247				12648212, 16831889	Standard	NM_175068		Approved	KRT6IRS3, K6IRS3	uc001sas.3	Q86Y46	OTTHUMG00000169746	ENST00000305748.3:c.1612delA	12.37:g.53001991delT	ENSP00000307014:p.Thr538fs					RP11-641A6.2_ENST00000551089.1_RNA	p.T538fs	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	9	1646	-			538			Tail.		Q32MB2	Frame_Shift_Del	DEL	ENST00000305748.3	37	c.1612delA	CCDS8834.1																																																																																				0.532	KRT73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405700.1	NM_175068		7	881						7	881	---	---	---	---
ZC3H13	23091	broad.mit.edu	37	13	46542016	46542017	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr13:46542016_46542017delCT	ENST00000242848.4	-	15	4291_4292	c.3943_3944delAG	c.(3943-3945)aggfs	p.R1316fs	ZC3H13_ENST00000282007.3_Frame_Shift_Del_p.R1316fs|ZC3H13_ENST00000378921.2_Frame_Shift_Del_p.R272fs			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1316							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		cgtatctctcctctctctctcg	0.495																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	ENST00000242848.4																			0				cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79						c.(3943-3945)gfs		zinc finger CCCH-type containing 13																																				SO:0001589	frameshift_variant	23091						nucleic acid binding|zinc ion binding	g.chr13:46542016_46542017delCT	AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.3943_3944delAG	13.37:g.46542024_46542025delCT	ENSP00000242848:p.Arg1316fs					ZC3H13_ENST00000378921.2_Frame_Shift_Del_p.R272fs|ZC3H13_ENST00000282007.3_Frame_Shift_Del_p.R1316fs	p.R1316fs			Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	15	4291_4292	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	1316					A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Frame_Shift_Del	DEL	ENST00000242848.4	37	c.3943_3944delAG																																																																																					0.495	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070		8	625						8	625	---	---	---	---
PIBF1	10464	broad.mit.edu	37	13	73357634	73357634	+	Frame_Shift_Del	DEL	A	A	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr13:73357634delA	ENST00000326291.6	+	2	365	c.27delA	c.(25-27)tcafs	p.S9fs	DIS3_ENST00000377767.4_5'Flank|DIS3_ENST00000545453.1_5'Flank|DIS3_ENST00000377780.4_5'Flank|DIS3_ENST00000475871.1_5'Flank	NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	9						centrosome (GO:0005813)				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		CAAAGGAGTCAAAAAAAGTGA	0.303																																						ENST00000326291.6																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24						c.(25-27)tcfs		progesterone immunomodulatory binding factor 1							54.0	58.0	57.0					13																	73357634		2203	4300	6503	SO:0001589	frameshift_variant	10464					centrosome		g.chr13:73357634delA	AF330046	CCDS31991.1	13q21.33	2014-02-20	2007-10-17	2007-10-17	ENSG00000083535	ENSG00000083535			23352	protein-coding gene	gene with protein product	"""progesterone-induced blocking factor 1"""	607532	"""chromosome 13 open reading frame 24"""	C13orf24		11935316	Standard	NM_006346		Approved	CEP90	uc001vjc.3	Q8WXW3	OTTHUMG00000017071	ENST00000326291.6:c.27delA	13.37:g.73357634delA	ENSP00000317144:p.Ser9fs						p.S9fs	NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN		GBM - Glioblastoma multiforme(99;0.000664)	2	365	+		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)	9					O95664|Q6U9V2|Q6UG50|Q86V07|Q96SF4	Frame_Shift_Del	DEL	ENST00000326291.6	37	c.27delA	CCDS31991.1																																																																																				0.303	PIBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045255.1	NM_006346		7	854						7	854	---	---	---	---
ELMSAN1	91748	broad.mit.edu	37	14	74205926	74205928	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr14:74205926_74205928delCTG	ENST00000286523.5	-	2	1566_1568	c.784_786delCAG	c.(784-786)cagdel	p.Q262del	ELMSAN1_ENST00000394071.2_In_Frame_Del_p.Q262del|ELMSAN1_ENST00000486739.1_5'Flank	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	262	Gln-rich.|Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										GTAGGgctgcctgctgctgctgc	0.65																																						ENST00000286523.5																			0											c.(784-786)del		ELM2 and Myb/SANT-like domain containing 1																																				SO:0001651	inframe_deletion	91748							g.chr14:74205926_74205928delCTG	BF971739	CCDS9819.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000156030	ENSG00000156030			19853	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 117"", ""chromosome 14 open reading frame 43"""	C14orf117, C14orf43			Standard	NM_194278		Approved	LSR68	uc001xou.3	Q6PJG2	OTTHUMG00000150359	ENST00000286523.5:c.784_786delCAG	14.37:g.74205935_74205937delCTG	ENSP00000286523:p.Gln262del					ELMSAN1_ENST00000394071.2_In_Frame_Del_p.Q262del	p.Q262del	NM_194278.3	NP_919254.2					2	1566_1568	-								Q6PK13|Q6PK59|Q6ZS23	In_Frame_Del	DEL	ENST00000286523.5	37	c.784_786delCAG	CCDS9819.1																																																																																				0.650	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317793.1	NM_194278		11	163						11	163	---	---	---	---
HSP90AA1	3320	broad.mit.edu	37	14	102551161	102551163	+	In_Frame_Del	DEL	TCT	TCT	-	rs55793809	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr14:102551161_102551163delTCT	ENST00000216281.8	-	5	1041_1043	c.836_838delAGA	c.(835-840)aagatt>att	p.K279del	HSP90AA1_ENST00000334701.7_In_Frame_Del_p.K401del|HSP90AA1_ENST00000441629.2_In_Frame_Del_p.K100del	NM_005348.3	NP_005339.3	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	279					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone-mediated protein complex assembly (GO:0051131)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|mitochondrial transport (GO:0006839)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein import into mitochondrial outer membrane (GO:0045040)|protein refolding (GO:0042026)|regulation of nitric-oxide synthase activity (GO:0050999)|response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|identical protein binding (GO:0042802)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Nedocromil(DB00716)|Rifabutin(DB00615)	ttttccttaatcttcttcttctt	0.389																																						ENST00000334701.7																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28						c.(1201-1206)att>a		heat shock protein 90kDa alpha (cytosolic), class A member 1	Rifabutin(DB00615)																																			SO:0001651	inframe_deletion	3320				axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding	g.chr14:102551161_102551163delTCT	M27024	CCDS9967.1, CCDS32160.1	14q32.33	2011-09-02	2006-02-24	2006-02-24	ENSG00000080824	ENSG00000080824		"""Heat shock proteins / HSPC"""	5253	protein-coding gene	gene with protein product		140571	"""heat shock 90kD protein 1, alpha"", ""heat shock 90kDa protein 1, alpha"""	HSPC1, HSPCA		2527334, 16269234	Standard	NM_001017963		Approved	Hsp89, Hsp90, FLJ31884, HSP90N	uc001ykv.4	P07900		ENST00000216281.8:c.836_838delAGA	14.37:g.102551170_102551172delTCT	ENSP00000216281:p.Lys279del					HSP90AA1_ENST00000216281.8_In_Frame_Del_p.KI279del|HSP90AA1_ENST00000441629.2_In_Frame_Del_p.KI100del	p.KI401del	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN			6	1483_1485	-			279					A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5	In_Frame_Del	DEL	ENST00000216281.8	37	c.1202_1204delAGA	CCDS9967.1																																																																																				0.389	HSP90AA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414952.2	NM_005348		10	406						10	406	---	---	---	---
GOLGA8DP	100132979	broad.mit.edu	37	15	22709287	22709288	+	RNA	DEL	AG	AG	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	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		9	455						9	455	---	---	---	---
VPS33B	26276	broad.mit.edu	37	15	91550236	91550238	+	In_Frame_Del	DEL	TCC	TCC	-	rs147271815		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr15:91550236_91550238delTCC	ENST00000333371.3	-	9	995_997	c.642_644delGGA	c.(640-645)gaggat>gat	p.E214del	VPS33B_ENST00000535906.1_In_Frame_Del_p.E187del|VPS33B_ENST00000535843.1_In_Frame_Del_p.E123del	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_ENST00000535906.1_In_Frame_Del_p.ED187del|VPS33B_ENST00000535843.1_In_Frame_Del_p.ED123del	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	696						8	696	---	---	---	---
RP11-420N3.2	0	broad.mit.edu	37	16	5313074	5313076	+	RNA	DEL	GGT	GGT	-	rs542176654		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr16:5313074_5313076delGGT	ENST00000569895.1	+	0	304				AC074051.1_ENST00000408882.1_RNA																							GCAGggtgacggtggtggtggtg	0.483																																						ENST00000569895.1																			0																																																			0							g.chr16:5313074_5313076delGGT																													16.37:g.5313083_5313085delGGT														0	304	+									RNA	DEL	ENST00000569895.1	37																																																																																						0.483	RP11-420N3.2-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000435404.2			9	193						9	193	---	---	---	---
NOMO1	23420	broad.mit.edu	37	16	14980695	14980695	+	Frame_Shift_Del	DEL	C	C	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr16:14980695delC	ENST00000287667.7	+	28	3471	c.3300delC	c.(3298-3300)ttcfs	p.F1100fs		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	1100						integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						TCTTCCATTTCCCCCCACTGC	0.473																																						ENST00000287667.7																			0				endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						c.(3298-3300)ttfs		NODAL modulator 1							162.0	156.0	158.0					16																	14980695		2197	4300	6497	SO:0001589	frameshift_variant	23420					integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding	g.chr16:14980695delC	X57398	CCDS10556.1	16p13.11	2008-02-05			ENSG00000103512	ENSG00000103512			30060	protein-coding gene	gene with protein product		609157				1310294, 15257293	Standard	NM_014287		Approved	PM5	uc002dcv.3	Q15155	OTTHUMG00000090541	ENST00000287667.7:c.3300delC	16.37:g.14980695delC	ENSP00000287667:p.Phe1100fs						p.F1100fs	NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN			28	3471	+			1100					P78421|Q8IW21|Q96DG0	Frame_Shift_Del	DEL	ENST00000287667.7	37	c.3300delC	CCDS10556.1																																																																																				0.473	NOMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207065.1			9	1592						9	1592	---	---	---	---
COQ9	57017	broad.mit.edu	37	16	57486732	57486734	+	In_Frame_Del	DEL	GAG	GAG	-	rs149029279		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr16:57486732_57486734delGAG	ENST00000262507.6	+	3	331_333	c.262_264delGAG	c.(262-264)gagdel	p.E91del	COQ9_ENST00000567072.1_In_Frame_Del_p.E91del|COQ9_ENST00000567384.1_3'UTR|COQ9_ENST00000567933.1_In_Frame_Del_p.E91del	NM_020312.3	NP_064708.1	O75208	COQ9_HUMAN	coenzyme Q9	91					mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						CCAGGGCGGCGAGGAGGAGGAGG	0.576																																						ENST00000262507.6																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						c.(262-264)del		coenzyme Q9																																				SO:0001651	inframe_deletion	57017				ubiquinone biosynthetic process	mitochondrion		g.chr16:57486732_57486734delGAG	BC064946	CCDS32459.1	16q13	2013-10-18	2013-10-18	2006-01-13	ENSG00000088682	ENSG00000088682			25302	protein-coding gene	gene with protein product		612837	"""chromosome 16 open reading frame 49"", ""coenzyme Q9 homolog (yeast)"", ""coenzyme Q9 homolog (S. cerevisiae)"""	C16orf49		19375058	Standard	NM_020312		Approved	DKFZP434K046	uc002elq.3	O75208		ENST00000262507.6:c.262_264delGAG	16.37:g.57486741_57486743delGAG	ENSP00000262507:p.Glu91del					COQ9_ENST00000567384.1_3'UTR|COQ9_ENST00000567933.1_In_Frame_Del_p.E91del|COQ9_ENST00000567072.1_In_Frame_Del_p.E91del	p.E91del	NM_020312.3	NP_064708.1	O75208	COQ9_HUMAN			3	331_333	+			91					A8K3L2|Q7L5V7|Q7Z5T6|Q8NBL4|Q9NTJ2|Q9P056	In_Frame_Del	DEL	ENST00000262507.6	37	c.262_264delGAG	CCDS32459.1																																																																																				0.576	COQ9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432598.3	NM_020312		9	752						9	752	---	---	---	---
RANBP10	57610	broad.mit.edu	37	16	67763279	67763281	+	In_Frame_Del	DEL	GAG	GAG	-	rs141826437	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr16:67763279_67763281delGAG	ENST00000317506.3	-	10	1369_1371	c.1254_1256delCTC	c.(1252-1257)tcctcg>tcg	p.418_419SS>S	RANBP10_ENST00000536251.1_In_Frame_Del_p.189_190SS>S|RANBP10_ENST00000602677.1_In_Frame_Del_p.418_419SS>S|RANBP10_ENST00000448631.2_In_Frame_Del_p.362_363SS>S|RANBP10_ENST00000411657.2_In_Frame_Del_p.301_302SS>S	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN	RAN binding protein 10	418	Ser-rich.				microtubule cytoskeleton organization (GO:0000226)	cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)	p.S418S(2)		endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		ggaagaggacgaggaggaggagg	0.567																																						ENST00000317506.3																			2	Substitution - coding silent(2)	p.S418S(2)	endometrium(2)	endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23						c.(1252-1257)tcg>tc		RAN binding protein 10																																				SO:0001651	inframe_deletion	57610							g.chr16:67763279_67763281delGAG	AB040897	CCDS32469.1	16q22	2008-02-05				ENSG00000141084			29285	protein-coding gene	gene with protein product		614031				14684163	Standard	NM_020850		Approved	KIAA1464	uc002eud.3	Q6VN20		ENST00000317506.3:c.1254_1256delCTC	16.37:g.67763288_67763290delGAG	ENSP00000316589:p.Ser422del					RANBP10_ENST00000448631.2_In_Frame_Del_p.SS364del|RANBP10_ENST00000602677.1_In_Frame_Del_p.SS420del|RANBP10_ENST00000411657.2_In_Frame_Del_p.SS303del|RANBP10_ENST00000536251.1_In_Frame_Del_p.SS191del	p.SS420del	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)	10	1369_1371	-		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)	420			Ser-rich.		A4FTY2|B4DID0|B4DQH9|E7EW27|Q9P264	In_Frame_Del	DEL	ENST00000317506.3	37	c.1254_1256delCTC	CCDS32469.1																																																																																				0.567	RANBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467896.1	NM_020850		9	188						9	188	---	---	---	---
AP1G1	164	broad.mit.edu	37	16	71803440	71803440	+	Intron	DEL	A	A	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr16:71803440delA	ENST00000299980.4	-	6	1084				AP1G1_ENST00000423132.2_Splice_Site|AP1G1_ENST00000393512.3_Intron|AP1G1_ENST00000569748.1_Intron|AP1G1_ENST00000433195.2_Intron	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|Golgi to lysosome transport (GO:0090160)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network membrane (GO:0032588)	GTP-dependent protein binding (GO:0030742)|kinesin binding (GO:0019894)|protein transporter activity (GO:0008565)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				GCTTGCTTTCAAAAAAAAATA	0.378																																						ENST00000423132.2																			0				breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28						c.e7-1		adaptor-related protein complex 1, gamma 1 subunit																																				SO:0001627	intron_variant	164				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity	g.chr16:71803440delA	Y12226	CCDS32480.1, CCDS45522.1	16q23	2009-08-03				ENSG00000166747			555	protein-coding gene	gene with protein product	"""gamma1-adaptin"""	603533		CLAPG1, ADTG		9653655, 9733768	Standard	NM_001128		Approved		uc010cgg.3	O43747		ENST00000299980.4:c.642+85T>-	16.37:g.71803440delA						AP1G1_ENST00000569748.1_Intron|AP1G1_ENST00000299980.4_Intron|AP1G1_ENST00000393512.3_Intron|AP1G1_ENST00000433195.2_Intron				O43747	AP1G1_HUMAN			7	921	-		Ovarian(137;0.125)						O75709|O75842|Q9UG09|Q9Y3U4	Splice_Site	DEL	ENST00000299980.4	37		CCDS32480.1																																																																																				0.378	AP1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434147.1			7	190						7	190	---	---	---	---
TCF25	22980	broad.mit.edu	37	16	89951019	89951020	+	Frame_Shift_Ins	INS	-	-	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr16:89951019_89951020insA	ENST00000263346.8	+	3	440_441	c.384_385insA	c.(385-387)aaafs	p.K129fs	TCF25_ENST00000563406.1_3'UTR|TCF25_ENST00000263347.7_5'Flank	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	129					heart development (GO:0007507)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		TCCGGAAGAAGAAAAAAAAACA	0.446																																						ENST00000263346.8																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18						c.(382-387)aaaaaafs		transcription factor 25 (basic helix-loop-helix)																																				SO:0001589	frameshift_variant	22980				heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr16:89951019_89951020insA	AF322111	CCDS10987.1	16q24.3	2008-02-05			ENSG00000141002	ENSG00000141002			29181	protein-coding gene	gene with protein product		612326				12107429, 16574069	Standard	NM_014972		Approved	Nulp1, KIAA1049	uc002fpb.2	Q9BQ70	OTTHUMG00000138986	ENST00000263346.8:c.393dupA	16.37:g.89951028_89951028dupA	ENSP00000263346:p.Lys129fs					TCF25_ENST00000563406.1_3'UTR	p.KK128fs	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0288)	3	440_441	+		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)	128					Q2MK75|Q9UPV3	Frame_Shift_Ins	INS	ENST00000263346.8	37	c.384_385insA	CCDS10987.1																																																																																				0.446	TCF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272875.2	NM_014972		9	193						9	193	---	---	---	---
CHRNB1	1140	broad.mit.edu	37	17	7357666	7357668	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr17:7357666_7357668delCTG	ENST00000306071.2	+	8	938_940	c.871_873delCTG	c.(871-873)ctgdel	p.L294del	CHRNB1_ENST00000536404.2_In_Frame_Del_p.L222del|CHRNB1_ENST00000576360.1_Intron|CHRNB1_ENST00000575379.1_5'Flank	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN	cholinergic receptor, nicotinic, beta 1 (muscle)	294					behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|neurological system process (GO:0050877)|neuromuscular synaptic transmission (GO:0007274)|postsynaptic membrane organization (GO:0001941)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)|ligand-gated ion channel activity (GO:0015276)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23		Prostate(122;0.157)			Galantamine(DB00674)	TACTGTGTTCCTGCTGCTGCTGG	0.498																																						ENST00000306071.2																			0				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23						c.(871-873)del		cholinergic receptor, nicotinic, beta 1 (muscle)																																				SO:0001651	inframe_deletion	1140				behavioral response to nicotine|muscle contraction|muscle fiber development|neuromuscular synaptic transmission|postsynaptic membrane organization|regulation of membrane potential|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine binding|receptor activity	g.chr17:7357666_7357668delCTG	X14830	CCDS11106.1	17p13.1	2012-02-11	2006-02-01		ENSG00000170175	ENSG00000170175		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1961	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 1 (muscle)"""	100710	"""cholinergic receptor, nicotinic, beta polypeptide 1 (muscle)"""	CHRNB			Standard	NM_000747		Approved		uc002ghb.3	P11230	OTTHUMG00000108139	ENST00000306071.2:c.871_873delCTG	17.37:g.7357675_7357677delCTG	ENSP00000304290:p.Leu294del					CHRNB1_ENST00000536404.2_In_Frame_Del_p.L222del|CHRNB1_ENST00000576360.1_Intron	p.L294del	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN			8	938_940	+		Prostate(122;0.157)	294					B7Z5H1|Q8IZ46|Q96FB8	In_Frame_Del	DEL	ENST00000306071.2	37	c.871_873delCTG	CCDS11106.1																																																																																				0.498	CHRNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226942.3			10	770						10	770	---	---	---	---
SUPT6H	6830	broad.mit.edu	37	17	27001303	27001305	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr17:27001303_27001305delGAG	ENST00000314616.6	+	3	395_397	c.112_114delGAG	c.(112-114)gagdel	p.E43del	AC010761.13_ENST00000578819.1_RNA|SUPT6H_ENST00000347486.4_In_Frame_Del_p.E43del	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	43	Asp/Glu-rich.|Interaction with IWS1. {ECO:0000250}.|Interaction with PAAF1.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TCTTCCAGATGAGGAGGAGGAGG	0.453																																						ENST00000314616.6																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(112-114)del		suppressor of Ty 6 homolog (S. cerevisiae)																																				SO:0001651	inframe_deletion	6830				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:27001303_27001305delGAG	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.112_114delGAG	17.37:g.27001312_27001314delGAG	ENSP00000319104:p.Glu43del					SUPT6H_ENST00000347486.4_In_Frame_Del_p.E43del	p.E43del	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN			3	395_397	+	Lung NSC(42;0.00431)		43			Asp/Glu-rich.		A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	In_Frame_Del	DEL	ENST00000314616.6	37	c.112_114delGAG	CCDS32596.1																																																																																				0.453	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		13	269						13	269	---	---	---	---
KRTAP9-1	728318	broad.mit.edu	37	17	39346425	39346427	+	In_Frame_Del	DEL	GTG	GTG	-	rs376633756		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr17:39346425_39346427delGTG	ENST00000398470.1	+	1	287_289	c.287_289delGTG	c.(286-291)tgtggc>tgc	p.G97del	KRTAP9-1_ENST00000318329.5_Splice_Site_p.46_47CG>W|KRTAP9-1_ENST00000377723.3_Intron	NM_001190460.1	NP_001177389.1	A8MXZ3	KRA91_HUMAN	keratin associated protein 9-1	97	30 X 5 AA repeats of C-C-[CGSVRQH]- [SQTNP]-[PTSI].					keratin filament (GO:0045095)				breast(1)|lung(3)	4						TCCAGCTGCTGTGGCCAAACCAG	0.606																																						ENST00000398470.1																			0				breast(1)|lung(3)	4						c.(286-291)tgc>t		keratin associated protein 9-1																																				SO:0001651	inframe_deletion	0					keratin filament		g.chr17:39346425_39346427delGTG	AC006070	CCDS56029.1	17q21.2	2010-06-03			ENSG00000240542	ENSG00000240542		"""Keratin associated proteins"""	18912	protein-coding gene	gene with protein product			"""keratin associated protein 9-like 3"""	KRTAP9L3			Standard	NM_001190460		Approved	KAP9.1	uc021txf.1	A8MXZ3	OTTHUMG00000133636	ENST00000398470.1:c.287_289delGTG	17.37:g.39346425_39346427delGTG	ENSP00000381488:p.Gly97del					KRTAP9-1_ENST00000318329.5_Splice_Site_p.CG46_splice|KRTAP9-1_ENST00000377723.3_Intron	p.CG96del	NM_001190460.1	NP_001177389.1	A8MXZ3	KRA91_HUMAN			1	287_289	+			96			30 X 5 AA repeats of C-C-[CGSVRQH]- [SQTNP]-[PTSI].			In_Frame_Del	DEL	ENST00000398470.1	37	c.287_289delGTG	CCDS56029.1																																																																																				0.606	KRTAP9-1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257781.1			7	93						7	93	---	---	---	---
LOC100294341	100294341	broad.mit.edu	37	17	43596433	43596433	+	RNA	DEL	T	T	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr17:43596433delT	ENST00000253803.2	+	0	267																											TTTTTGCCGGTTTTGGCCTAC	0.478																																						ENST00000253803.2																			0																																																			0							g.chr17:43596433delT																													17.37:g.43596433delT														0	267	+									RNA	DEL	ENST00000253803.2	37																																																																																						0.478	RP11-798G7.5-201	KNOWN	basic	antisense	antisense				7	3660						7	3660	---	---	---	---
RP11-156P1.3	0	broad.mit.edu	37	17	45128638	45128638	+	RNA	DEL	G	G	-	rs374777142|rs552285972	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr17:45128638delG	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							Gtttttttttgttttgttttt	0.323																																						ENST00000575173.1																			0																																																			0							g.chr17:45128638delG																													17.37:g.45128638delG														0	418	-									RNA	DEL	ENST00000575173.1	37																																																																																						0.323	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			7	532						7	532	---	---	---	---
SPAG9	9043	broad.mit.edu	37	17	49077041	49077041	+	Frame_Shift_Del	DEL	T	T	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr17:49077041delT	ENST00000262013.7	-	14	1853	c.1645delA	c.(1645-1647)aggfs	p.R549fs	SPAG9_ENST00000505279.1_Frame_Shift_Del_p.R535fs|SPAG9_ENST00000357122.4_Frame_Shift_Del_p.R535fs|SPAG9_ENST00000510283.1_Frame_Shift_Del_p.R392fs	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	549					activation of JUN kinase activity (GO:0007257)|muscle cell differentiation (GO:0042692)|negative regulation of protein homodimerization activity (GO:0090074)|positive regulation of cell migration (GO:0030335)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|striated muscle cell differentiation (GO:0051146)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)		p.R535fs*28(1)		NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			ATGCTTGACCTTTTTTTTTCC	0.323																																						ENST00000262013.7																			1	Deletion - Frameshift(1)	p.R535fs*28(1)	large_intestine(1)	NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						c.(1645-1647)ggfs		sperm associated antigen 9							158.0	136.0	144.0					17																	49077041		2203	4300	6503	SO:0001589	frameshift_variant	9043				positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm		g.chr17:49077041delT	AB011088	CCDS11577.1, CCDS45740.1, CCDS58577.1, CCDS58578.1	17q21.33	2013-09-23			ENSG00000008294	ENSG00000008294			14524	protein-coding gene	gene with protein product	"""sperm surface protein"", ""JNK/SAPK-associated protein"", ""JNK interacting protein"", ""sperm specific protein"", ""c-Jun NH2-terminal kinase-associated leucine zipper protein"", ""Max-binding protein"", ""JNK-associated leucine-zipper protein"", ""HLC-4 protein"", ""lung cancer oncogene 4"", ""proliferation-inducing gene 6"", ""cancer/testis antigen 89"""	605430				9480848, 11106729	Standard	NM_003971		Approved	HSS, SYD1, KIAA0516, MGC14967, MGC74461, MGC117291, JLP, PHET, HLC4, PIG6, FLJ13450, FLJ14006, FLJ26141, FLJ34602, CT89	uc002itc.3	O60271	OTTHUMG00000162316	ENST00000262013.7:c.1645delA	17.37:g.49077041delT	ENSP00000262013:p.Arg549fs					SPAG9_ENST00000510283.1_Frame_Shift_Del_p.R392fs|SPAG9_ENST00000357122.4_Frame_Shift_Del_p.R535fs|SPAG9_ENST00000505279.1_Frame_Shift_Del_p.R535fs	p.R549fs	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.24e-07)		14	1853	-			549					A6H8U5|A8MSX0|B4DHH2|O60905|Q3KQU8|Q3MKM7|Q86WC7|Q86WC8|Q8IZX7|Q96II0|Q9H811	Frame_Shift_Del	DEL	ENST00000262013.7	37	c.1645delA	CCDS45740.1																																																																																				0.323	SPAG9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368543.2	NM_003971		18	354						18	354	---	---	---	---
RP11-178C3.1	0	broad.mit.edu	37	17	58050857	58050857	+	IGR	DEL	G	G	-	rs375748922		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr17:58050857delG	ENST00000591035.1	+	0	481				RP11-178C3.2_ENST00000586209.1_lincRNA																							TTTTTTTTTTGGCAGTTTTTA	0.423																																						ENST00000586209.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr17:58050857delG																													17.37:g.58050857delG														0	158	+									RNA	DEL	ENST00000591035.1	37																																																																																						0.423	RP11-178C3.1-001	PUTATIVE	mRNA_start_NF|cds_start_NF|basic|appris_principal|readthrough_transcript	protein_coding	protein_coding	OTTHUMT00000449157.1			11	81						11	81	---	---	---	---
OSBPL1A	114876	broad.mit.edu	37	18	21745096	21745097	+	Frame_Shift_Ins	INS	-	-	T	rs370244500		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr18:21745096_21745097insT	ENST00000319481.3	-	27	2888_2889	c.2682_2683insA	c.(2680-2685)aaacgafs	p.R895fs	RP11-799B12.4_ENST00000583267.1_lincRNA|OSBPL1A_ENST00000399443.3_Frame_Shift_Ins_p.R382fs|OSBPL1A_ENST00000357041.4_Frame_Shift_Ins_p.R513fs	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	895					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					TCCTCAAGTCGTTTTTTTTCTT	0.46																																						ENST00000319481.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(2680-2685)aagactfs		oxysterol binding protein-like 1A																																				SO:0001589	frameshift_variant	114876				cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding	g.chr18:21745096_21745097insT	AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"""Oxysterol binding proteins"", ""Ankyrin repeat domain containing"""	16398	protein-coding gene	gene with protein product		606730	"""oxysterol binding protein-like 1B"""	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.2683dupA	18.37:g.21745104_21745104dupT	ENSP00000320291:p.Arg895fs					OSBPL1A_ENST00000399443.3_Frame_Shift_Ins_p.T382fs|OSBPL1A_ENST00000357041.4_Frame_Shift_Ins_p.T513fs	p.T895fs	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN			27	2888_2889	-	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)		895					B7Z7D3|Q9BZF5|Q9NW87	Frame_Shift_Ins	INS	ENST00000319481.3	37	c.2682_2683insA	CCDS11884.1																																																																																				0.460	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1	NM_080597		8	975						8	975	---	---	---	---
DSC3	1825	broad.mit.edu	37	18	28581674	28581674	+	Frame_Shift_Del	DEL	A	A	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr18:28581674delA	ENST00000360428.4	-	14	2225	c.2145delT	c.(2143-2145)tttfs	p.F715fs	DSC3_ENST00000434452.1_Frame_Shift_Del_p.F715fs	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	715					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|protein stabilization (GO:0050821)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TAGTTGCACCAAAAACTCCAC	0.289																																						ENST00000434452.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(2143-2145)ttfs		desmocollin 3							80.0	83.0	82.0					18																	28581674		2203	4297	6500	SO:0001589	frameshift_variant	1825				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	g.chr18:28581674delA	X83929	CCDS32810.1	18q12.1	2014-07-30			ENSG00000134762	ENSG00000134762		"""Cadherins / Major cadherins"""	3037	protein-coding gene	gene with protein product		600271		DSC4		7774948, 8486729	Standard	NM_001941		Approved	CDHF3, DSC, DSC1, DSC2	uc002kwj.4	Q14574	OTTHUMG00000179622	ENST00000360428.4:c.2145delT	18.37:g.28581674delA	ENSP00000353608:p.Phe715fs					DSC3_ENST00000360428.4_Frame_Shift_Del_p.F715fs	p.F715fs	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.125)		14	2299	-			715					A6NN35|Q14200|Q9HAZ9	Frame_Shift_Del	DEL	ENST00000360428.4	37	c.2145delT	CCDS32810.1																																																																																				0.289	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447384.1	NM_001941, NM_024423		7	875						7	875	---	---	---	---
CHERP	10523	broad.mit.edu	37	19	16640581	16640583	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr19:16640581_16640583delTGC	ENST00000198939.6	-	8	1074_1076	c.1038_1040delGCA	c.(1036-1041)cagcaa>caa	p.346_347QQ>Q	CHERP_ENST00000546361.2_In_Frame_Del_p.335_336QQ>Q|CTD-3222D19.2_ENST00000409035.1_Intron					calcium homeostasis endoplasmic reticulum protein											endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						ctgctgctgttgctgctgctgct	0.67																																						ENST00000546361.2																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						c.(1003-1008)caa>ca		calcium homeostasis endoplasmic reticulum protein																																				SO:0001651	inframe_deletion	10523				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding	g.chr19:16640581_16640583delTGC	U94836	CCDS42518.1	19p13.1	2013-01-28				ENSG00000085872		"""G patch domain containing"""	16930	protein-coding gene	gene with protein product						8896557, 10794731	Standard	NM_006387		Approved	ERPROT213-21, DAN16	uc002nei.1	Q8IWX8	OTTHUMG00000169304	ENST00000198939.6:c.1038_1040delGCA	19.37:g.16640590_16640592delTGC	ENSP00000198939:p.Gln352del					CHERP_ENST00000198939.6_In_Frame_Del_p.QQ350del|CTD-3222D19.2_ENST00000409035.1_Intron	p.QQ339del	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN			8	1156_1158	-			339			Gln-rich.			In_Frame_Del	DEL	ENST00000198939.6	37	c.1005_1007delGCA																																																																																					0.670	CHERP-003	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000403372.1	NM_006387		8	204						8	204	---	---	---	---
NWD1	284434	broad.mit.edu	37	19	16908642	16908642	+	Frame_Shift_Del	DEL	T	T	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr19:16908642delT	ENST00000552788.1	+	14	3404	c.3404delT	c.(3403-3405)gttfs	p.V1135fs	NWD1_ENST00000524140.2_Frame_Shift_Del_p.V1135fs|NWD1_ENST00000523826.1_Frame_Shift_Del_p.V929fs|NWD1_ENST00000379808.3_Frame_Shift_Del_p.V1135fs|NWD1_ENST00000549814.1_Frame_Shift_Del_p.V1135fs|NWD1_ENST00000339803.6_Frame_Shift_Del_p.V1000fs			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1135							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GAGACGGCTGTTTTTGGTACT	0.552																																						ENST00000524140.2																			0				NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(3403-3405)gtfs		NACHT and WD repeat domain containing 1							301.0	275.0	284.0					19																	16908642		2203	4300	6503	SO:0001589	frameshift_variant	284434						ATP binding	g.chr19:16908642delT	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.3404delT	19.37:g.16908642delT	ENSP00000447224:p.Val1135fs					NWD1_ENST00000552788.1_Frame_Shift_Del_p.V1135fs|NWD1_ENST00000549814.1_Frame_Shift_Del_p.V1135fs|NWD1_ENST00000523826.1_Frame_Shift_Del_p.V929fs|NWD1_ENST00000379808.3_Frame_Shift_Del_p.V1135fs|NWD1_ENST00000339803.6_Frame_Shift_Del_p.V1000fs	p.V1135fs	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN			16	3822	+			1135					C9J021|Q68CT3	Frame_Shift_Del	DEL	ENST00000552788.1	37	c.3404delT																																																																																					0.552	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		7	1815						7	1815	---	---	---	---
TSHZ3	57616	broad.mit.edu	37	19	31770222	31770224	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr19:31770222_31770224delGCT	ENST00000240587.4	-	2	802_804	c.475_477delAGC	c.(475-477)agcdel	p.S159del		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	159	Ser-rich.				in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					Cgctgccacagctgctgctgctg	0.626																																						ENST00000240587.4																			0				breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(475-477)del		teashirt zinc finger homeobox 3																																				SO:0001651	inframe_deletion	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31770222_31770224delGCT	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.475_477delAGC	19.37:g.31770231_31770233delGCT	ENSP00000240587:p.Ser159del						p.S159del	NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN			2	802_804	-	Esophageal squamous(110;0.226)		159			Ser-rich.		Q9H0G6|Q9P254	In_Frame_Del	DEL	ENST00000240587.4	37	c.475_477delAGC	CCDS12421.2																																																																																				0.626	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		7	168						7	168	---	---	---	---
SPRED3	399473	broad.mit.edu	37	19	38882864	38882866	+	In_Frame_Del	DEL	CCT	CCT	-	rs151129136		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr19:38882864_38882866delCCT	ENST00000338502.4	+	3	462_464	c.359_361delCCT	c.(358-363)ccctcc>ccc	p.S128del	SPRED3_ENST00000586301.1_In_Frame_Del_p.S128del|SPRED3_ENST00000587013.1_In_Frame_Del_p.S172del|SPRED3_ENST00000587564.2_3'UTR	NM_001042522.2	NP_001035987.1	Q2MJR0	SPRE3_HUMAN	sprouty-related, EVH1 domain containing 3	128	Ser-rich.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)	plasma membrane (GO:0005886)				central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TCACTCAccccctcctcctcctc	0.645																																						ENST00000587013.1																			0				central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9						c.(490-495)ccc>c		sprouty-related, EVH1 domain containing 3			,	401,4,3395		26,0,349,0,4,1521					,	3.3	0.9		dbSNP_134	44	1035,11,6892		107,0,821,1,9,3031	no	codingComplex,codingComplex	SPRED3	NM_001042522.1,NM_001039616.1	,	133,0,1170,1,13,4552	A1A1,A1A2,A1R,A2A2,A2R,RR		13.1771,10.6579,12.3616	,	,		1436,15,10287				SO:0001651	inframe_deletion	399473				multicellular organismal development			g.chr19:38882864_38882866delCCT		CCDS42560.1	19q13	2007-10-05				ENSG00000188766			31041	protein-coding gene	gene with protein product		609293				14618415	Standard	NM_001042522		Approved		uc002oim.4	Q2MJR0		ENST00000338502.4:c.359_361delCCT	19.37:g.38882873_38882875delCCT	ENSP00000345405:p.Ser128del					SPRED3_ENST00000587564.2_3'UTR|SPRED3_ENST00000586301.1_In_Frame_Del_p.PS120del|SPRED3_ENST00000338502.4_In_Frame_Del_p.PS120del	p.PS164del			Q2MJR0	SPRE3_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		3	569_571	+	all_cancers(60;3.4e-06)		120					Q2MJR1	In_Frame_Del	DEL	ENST00000338502.4	37	c.491_493delCCT	CCDS42560.1																																																																																				0.645	SPRED3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459216.1	XM_351191		8	102						8	102	---	---	---	---
CD3EAP	10849	broad.mit.edu	37	19	45911859	45911861	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr19:45911859_45911861delGAA	ENST00000309424.3	+	3	1121_1123	c.633_635delGAA	c.(631-636)cggaag>cgg	p.K217del	CD3EAP_ENST00000589804.1_In_Frame_Del_p.K219del|ERCC1_ENST00000300853.3_3'UTR|PPP1R13L_ENST00000418234.2_5'Flank|ERCC1_ENST00000588738.1_5'Flank|ERCC1_ENST00000423698.2_3'UTR	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	217	Poly-Lys.				rRNA transcription (GO:0009303)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|RNA polymerase I transcription factor complex (GO:0000120)	DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		TGGATGTGCGGAAGAAGAAGAAG	0.581																																						ENST00000309424.3																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11						c.(631-636)cgg>cg		CD3e molecule, epsilon associated protein			,,	0,144,4118		0,0,0,13,118,2000					,,	-5.6	0.0			66	5,183,8058		0,0,5,3,177,3938	no	codingComplex,utr-3,utr-3	ERCC1,CD3EAP	NM_012099.1,NM_001983.3,NM_001166049.1	,,	0,0,5,16,295,5938	A1A1,A1A2,A1R,A2A2,A2R,RR		2.2799,3.3787,2.6543	,,	,,		5,327,12176				SO:0001651	inframe_deletion	10849				rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	chromosome|RNA polymerase I transcription factor complex	DNA-directed RNA polymerase activity	g.chr19:45911859_45911861delGAA	U86751	CCDS12661.1, CCDS74397.1	19q13.3	2008-02-05	2006-03-28			ENSG00000117877			24219	protein-coding gene	gene with protein product	"""CD3 epsilon associated protein"", ""antisense to ERCC 1"""	107325	"""CD3e antigen, epsilon polypeptide associated protein"""			10373416, 9426281, 15226435	Standard	XM_005258425		Approved	ASE-1, CAST, PAF49	uc002pbq.1	O15446		ENST00000309424.3:c.633_635delGAA	19.37:g.45911868_45911870delGAA	ENSP00000310966:p.Lys217del					ERCC1_ENST00000423698.2_3'UTR|CD3EAP_ENST00000589804.1_In_Frame_Del_p.RK213del|ERCC1_ENST00000300853.3_3'UTR	p.RK211del	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0251)	3	1121_1123	+		all_neural(266;0.224)|Ovarian(192;0.231)	211					Q32N11|Q7Z5U2|Q9UPF6	In_Frame_Del	DEL	ENST00000309424.3	37	c.633_635delGAA	CCDS12661.1																																																																																				0.581	CD3EAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459538.1	NM_012099		13	574						13	574	---	---	---	---
MAMSTR	284358	broad.mit.edu	37	19	49218105	49218106	+	Frame_Shift_Ins	INS	-	-	G	rs373516785		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr19:49218105_49218106insG	ENST00000318083.6	-	6	548_549	c.485_486insC	c.(484-486)ccafs	p.P162fs	MAMSTR_ENST00000356751.4_Frame_Shift_Ins_p.P59fs|MAMSTR_ENST00000419611.1_Frame_Shift_Ins_p.P59fs|MAMSTR_ENST00000377367.3_Frame_Shift_Ins_p.P59fs|MAMSTR_ENST00000594582.1_Frame_Shift_Ins_p.P59fs			Q6ZN01	MASTR_HUMAN	MEF2 activating motif and SAP domain containing transcriptional regulator	162	Pro-rich.				positive regulation of myotube differentiation (GO:0010831)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)			endometrium(1)|ovary(1)	2						CCAACTTGTGTGGGGGGGGCGA	0.569																																						ENST00000318083.6																			0				endometrium(1)|ovary(1)	2						c.(484-486)ccafs		MEF2 activating motif and SAP domain containing transcriptional regulator																																				SO:0001589	frameshift_variant	284358				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chr19:49218105_49218106insG	AK093389	CCDS12730.1, CCDS46137.1, CCDS74415.1	19q13.33	2009-07-09			ENSG00000176909	ENSG00000176909			26689	protein-coding gene	gene with protein product	"""MEF2-activating SAP transcriptional regulator"""	610349				16818234	Standard	NM_182574		Approved	MASTR, FLJ36070	uc002pkg.2	Q6ZN01		ENST00000318083.6:c.486dupC	19.37:g.49218113_49218113dupG	ENSP00000324175:p.Pro162fs					MAMSTR_ENST00000594582.1_Frame_Shift_Ins_p.P59fs|MAMSTR_ENST00000419611.1_Frame_Shift_Ins_p.P59fs|MAMSTR_ENST00000377367.3_Frame_Shift_Ins_p.P59fs|MAMSTR_ENST00000356751.4_Frame_Shift_Ins_p.P59fs	p.P162fs			Q6ZN01	MASTR_HUMAN			6	548_549	-			162			Pro-rich.		B7ZKX4|Q3KQU9|Q8N9Y3	Frame_Shift_Ins	INS	ENST00000318083.6	37	c.485_486insC	CCDS46137.1																																																																																				0.569	MAMSTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466179.1	NM_182574		8	578						8	578	---	---	---	---
KLK7	5650	broad.mit.edu	37	19	51478657	51478657	+	IGR	DEL	T	T	-	rs71185783	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr19:51478657delT	ENST00000391807.1	-	0	1927				CTB-147C22.9_ENST00000594512.1_RNA	NM_139277.2	NP_644806.1	P49862	KLK7_HUMAN	kallikrein-related peptidase 7						epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(2)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895)		gaggggctggtggggggggtt	0.687																																						ENST00000594512.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr19:51478657delT	L33404	CCDS12812.1, CCDS59414.1	19q13.33	2011-09-07	2006-10-27			ENSG00000169035		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6368	protein-coding gene	gene with protein product		604438	"""kallikrein 7 (chymotryptic, stratum corneum)"""	PRSS6		8034709, 16800724, 16800723	Standard	NM_005046		Approved	SCCE	uc021uyj.1	P49862			19.37:g.51478657delT														0	297	+								A8K0U5|Q8N5N9|Q8NFV7	RNA	DEL	ENST00000391807.1	37		CCDS12812.1																																																																																				0.687	KLK7-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464344.1	NM_005046		3	4						3	4	---	---	---	---
SIGLEC9	27180	broad.mit.edu	37	19	51628233	51628235	+	Start_Codon_Del	DEL	TGC	TGC	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr19:51628233_51628235delTGC	ENST00000250360.3	+	0	69_71				SIGLEC9_ENST00000440804.3_Start_Codon_Del	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9						cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		ACCCCAGACATGCTGCTGCTGCT	0.611																																						ENST00000440804.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45								sialic acid binding Ig-like lectin 9																																				SO:0001582	initiator_codon_variant	27180				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding	g.chr19:51628233_51628235delTGC	AF135027	CCDS12825.1, CCDS56100.1	19q13.3-q13.4	2013-01-29			ENSG00000129450	ENSG00000129450		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10878	protein-coding gene	gene with protein product		605640				10903842	Standard	NM_014441		Approved	CD329	uc002pvu.3	Q9Y336			19.37:g.51628242_51628244delTGC						SIGLEC9_ENST00000250360.3_Start_Codon_Del		NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)	0	69_71	+		all_neural(266;0.0529)						Q6GTU4|Q9BYI9	Translation_Start_Site	DEL	ENST00000250360.3	37		CCDS12825.1																																																																																				0.611	SIGLEC9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464224.1	NM_014441		9	276						9	276	---	---	---	---
NLRP9	338321	broad.mit.edu	37	19	56249722	56249722	+	Frame_Shift_Del	DEL	A	A	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr19:56249722delA	ENST00000332836.2	-	1	46	c.19delT	c.(19-21)tcgfs	p.S7fs	RN7SKP109_ENST00000410592.1_RNA	NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	7	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		CCAAAATCCGAAAAAAAAGAT	0.393																																						ENST00000332836.2																			0				NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74						c.(19-21)cgfs		NLR family, pyrin domain containing 9							68.0	74.0	72.0					19																	56249722		2198	4299	6497	SO:0001589	frameshift_variant	338321					cytoplasm	ATP binding	g.chr19:56249722delA	AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22941	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"""	609663	"""NACHT, leucine rich repeat and PYD containing 9"""	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.19delT	19.37:g.56249722delA	ENSP00000331857:p.Ser7fs						p.S7fs	NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN		GBM - Glioblastoma multiforme(193;0.123)	1	46	-		Colorectal(82;0.000133)|Ovarian(87;0.133)	7			DAPIN.		B2RN12|Q86W27	Frame_Shift_Del	DEL	ENST00000332836.2	37	c.19delT	CCDS12934.1																																																																																				0.393	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1	NM_176820		7	865						7	865	---	---	---	---
CHGB	1114	broad.mit.edu	37	20	5903283	5903285	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	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		11	311						11	311	---	---	---	---
MED15	51586	broad.mit.edu	37	22	20918916	20918918	+	In_Frame_Del	DEL	CAG	CAG	-	rs374794651		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr22:20918916_20918918delCAG	ENST00000263205.7	+	6	700_702	c.631_633delCAG	c.(631-633)cagdel	p.Q218del	MED15_ENST00000292733.7_In_Frame_Del_p.Q218del|MED15_ENST00000425759.2_In_Frame_Del_p.Q107del|MED15_ENST00000541476.1_In_Frame_Del_p.Q192del|MED15_ENST00000382974.2_In_Frame_Del_p.Q147del|MED15_ENST00000542773.1_In_Frame_Del_p.Q23del|MED15_ENST00000406969.1_In_Frame_Del_p.Q192del	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	218	Poly-Gln.			Missing (in Ref. 4; CAG30423). {ECO:0000305}.	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)			gcagcagctccagcagcagcagc	0.567											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.(631-633)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.chr22:20918916_20918918delCAG	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.631_633delCAG	22.37:g.20918925_20918927delCAG	ENSP00000263205:p.Gln218del		OREG0026319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	744	MED15_ENST00000382974.2_In_Frame_Del_p.Q147del|MED15_ENST00000292733.7_In_Frame_Del_p.Q218del|MED15_ENST00000542773.1_In_Frame_Del_p.Q23del|MED15_ENST00000425759.2_In_Frame_Del_p.Q107del|MED15_ENST00000406969.1_In_Frame_Del_p.Q192del|MED15_ENST00000541476.1_In_Frame_Del_p.Q192del	p.Q218del	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	700_702	+	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)	218	Missing (in Ref. 4; CAG30423).		Poly-Gln.		D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	In_Frame_Del	DEL	ENST00000263205.7	37	c.631_633delCAG	CCDS33602.1																																																																																				0.567	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	NM_015889		13	173						13	173	---	---	---	---
TRIOBP	11078	broad.mit.edu	37	22	38120029	38120031	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr22:38120029_38120031delCCT	ENST00000406386.3	+	7	1721_1723	c.1466_1468delCCT	c.(1465-1470)gcctcc>gcc	p.S491del		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	491					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AATCCCAGAGCCTCCTCTCCCAG	0.601																																						ENST00000406386.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1465-1470)gcc>g		TRIO and F-actin binding protein																																				SO:0001651	inframe_deletion	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38120029_38120031delCCT	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.1466_1468delCCT	22.37:g.38120032_38120034delCCT	ENSP00000384312:p.Ser491del					RP1-37E16.12_ENST00000455236.1_RNA	p.AS489del	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			7	1721_1723	+	Melanoma(58;0.0574)		489					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	In_Frame_Del	DEL	ENST00000406386.3	37	c.1466_1468delCCT	CCDS43015.1																																																																																				0.601	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			11	358						11	358	---	---	---	---
DNAJB7	150353	broad.mit.edu	37	22	41257115	41257115	+	Frame_Shift_Del	DEL	T	T	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr22:41257115delT	ENST00000307221.4	-	1	1015	c.884delA	c.(883-885)aagfs	p.K296fs	XPNPEP3_ENST00000482652.1_Intron|XPNPEP3_ENST00000357137.4_Intron|XPNPEP3_ENST00000544094.1_5'Flank|XPNPEP3_ENST00000414396.1_Intron|XPNPEP3_ENST00000541156.1_Intron	NM_145174.1	NP_660157.1	Q7Z6W7	DNJB7_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 7	296	Poly-Lys.						chaperone binding (GO:0051087)			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						TTTACGCTTCTTTTTTTTCCT	0.378																																						ENST00000307221.4																			0				breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(883-885)agfs		DnaJ (Hsp40) homolog, subfamily B, member 7							105.0	100.0	102.0					22																	41257115		2203	4300	6503	SO:0001589	frameshift_variant	150353				protein folding		heat shock protein binding|unfolded protein binding	g.chr22:41257115delT	AF085232	CCDS14008.1	22q13.2	2011-09-02			ENSG00000172404	ENSG00000172404		"""Heat shock proteins / DNAJ (HSP40)"""	24986	protein-coding gene	gene with protein product		611336				12477932	Standard	NM_145174		Approved	HSC3	uc003azj.3	Q7Z6W7	OTTHUMG00000151202	ENST00000307221.4:c.884delA	22.37:g.41257115delT	ENSP00000307197:p.Lys296fs					XPNPEP3_ENST00000541156.1_Intron|XPNPEP3_ENST00000482652.1_Intron|XPNPEP3_ENST00000414396.1_Intron|XPNPEP3_ENST00000357137.4_Intron	p.K296fs	NM_145174.1	NP_660157.1	Q7Z6W7	DNJB7_HUMAN			1	1015	-			296			Poly-Lys.		Q2M220|Q5H904|Q8WYJ7	Frame_Shift_Del	DEL	ENST00000307221.4	37	c.884delA	CCDS14008.1																																																																																				0.378	DNAJB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321765.1	NM_145174		10	865						10	865	---	---	---	---
TRMU	55687	broad.mit.edu	37	22	46746285	46746285	+	Frame_Shift_Del	DEL	G	G	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr22:46746285delG	ENST00000290846.4	+	5	916	c.576delG	c.(574-576)ctgfs	p.L192fs	TRMU_ENST00000424260.2_3'UTR|TRMU_ENST00000381019.3_Frame_Shift_Del_p.L192fs	NM_018006.4	NP_060476.2	O75648	MTU1_HUMAN	tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase	192					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|sulfurtransferase activity (GO:0016783)|tRNA binding (GO:0000049)			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)	10		Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248)		TCTTCCCTCTGGGGGGATTAA	0.478																																						ENST00000290846.4																			0				NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)	10						c.(574-576)ctfs		tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase							82.0	89.0	87.0					22																	46746285		2203	4300	6503	SO:0001589	frameshift_variant	55687					mitochondrion	ATP binding|sulfurtransferase activity|tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase activity|tRNA binding	g.chr22:46746285delG	AY062123	CCDS14075.1, CCDS63510.1	22q13	2005-08-11	2005-08-11	2005-08-11	ENSG00000100416	ENSG00000100416	2.1.1.61		25481	protein-coding gene	gene with protein product		610230	"""tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase """	TRMT		14746906	Standard	XM_005261678		Approved	FLJ10140, MTO2	uc003bhp.3	O75648	OTTHUMG00000150424	ENST00000290846.4:c.576delG	22.37:g.46746285delG	ENSP00000290846:p.Leu192fs					TRMU_ENST00000381019.3_Frame_Shift_Del_p.L192fs|TRMU_ENST00000424260.2_3'UTR	p.L192fs	NM_018006.4	NP_060476.2	O75648	MTU1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248)	5	916	+		Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416)	192					A8K3U7|Q05C99|Q5W9C8|Q66K31|Q6ICC3|Q9NWC1	Frame_Shift_Del	DEL	ENST00000290846.4	37	c.576delG	CCDS14075.1																																																																																				0.478	TRMU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318042.2	NM_018006		8	669						8	669	---	---	---	---
TXLNG	55787	broad.mit.edu	37	X	16850849	16850850	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chrX:16850849_16850850delAG	ENST00000380122.5	+	6	1029_1030	c.968_969delAG	c.(967-969)cagfs	p.Q323fs	TXLNG_ENST00000398155.4_Frame_Shift_Del_p.Q191fs	NM_018360.2	NP_060830.2	Q9NUQ3	TXLNG_HUMAN	taxilin gamma	323					cell cycle (GO:0007049)|regulation of bone mineralization (GO:0030500)|regulation of cell cycle (GO:0051726)|regulation of cell cycle process (GO:0010564)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)	protein heterodimerization activity (GO:0046982)			breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	15						GAAAAACATCAGAGAGAGAGAG	0.386																																						ENST00000380122.5																			0				breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	15						c.(967-969)cfs		taxilin gamma																																				SO:0001589	frameshift_variant	55787				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane		g.chrX:16850849_16850850delAG	AK002071	CCDS14178.1, CCDS55373.1	Xp22.2	2014-05-07	2010-04-20	2010-04-20	ENSG00000086712	ENSG00000086712			18578	protein-coding gene	gene with protein product	"""lipopolysaccharide specific response-5 protein"", ""factor inhibiting activating transcription factor 4 (ATF4)-mediated transcription"""	300677	"""chromosome X open reading frame 15"""	CXorf15		15911876, 15184072, 16831913	Standard	NM_018360		Approved	FLJ11209, LSR5, FIAT, MGC126621, MGC126625, TXLNGX	uc004cxq.2	Q9NUQ3	OTTHUMG00000021196	ENST00000380122.5:c.968_969delAG	X.37:g.16850859_16850860delAG	ENSP00000369465:p.Gln323fs					TXLNG_ENST00000398155.4_Frame_Shift_Del_p.Q191fs	p.Q323fs	NM_018360.2	NP_060830.2	Q9NUQ3	TXLNG_HUMAN			6	1029_1030	+			323					Q2KQ75|Q5JNZ7|Q9P0X1	Frame_Shift_Del	DEL	ENST00000380122.5	37	c.968_969delAG	CCDS14178.1																																																																																				0.386	TXLNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055912.1	NM_018360		7	292						7	292	---	---	---	---
VAMP7	6845	broad.mit.edu	37	X	155169433	155169435	+	In_Frame_Del	DEL	TAT	TAT	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chrX:155169433_155169435delTAT	ENST00000286448.6	+	7	735_737	c.570_572delTAT	c.(568-573)actatt>act	p.I195del	VAMP7_ENST00000479687.1_3'UTR|VAMP7_ENST00000262640.6_In_Frame_Del_p.Y169del|VAMP7_ENST00000460621.1_In_Frame_Del_p.I154del	NM_001145149.2|NM_005638.5	NP_001138621.1|NP_005629.1	P51809	VAMP7_HUMAN	vesicle-associated membrane protein 7	195					calcium ion-dependent exocytosis (GO:0017156)|endosome to lysosome transport (GO:0008333)|eosinophil degranulation (GO:0043308)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi to plasma membrane protein transport (GO:0043001)|membrane organization (GO:0061024)|neutrophil degranulation (GO:0043312)|phagocytosis, engulfment (GO:0006911)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of protein targeting to vacuolar membrane (GO:1900483)|SNARE complex assembly (GO:0035493)|triglyceride transport (GO:0034197)|vesicle fusion (GO:0006906)|vesicle fusion with Golgi apparatus (GO:0048280)|vesicle-mediated transport (GO:0016192)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|synapse (GO:0045202)				large_intestine(1)|lung(8)	9	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TCAAGCTCACTATTATCATCATC	0.355																																						ENST00000286448.6																			0				large_intestine(1)|lung(8)	9						c.(568-573)act>ac		vesicle-associated membrane protein 7																																				SO:0001651	inframe_deletion	6845				calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|ER to Golgi vesicle-mediated transport|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|SNARE complex|transport vesicle membrane	protein binding	g.chrX:155169433_155169435delTAT	AJ295938	CCDS14770.4, CCDS48199.1, CCDS55548.1	Xq28 and Yq12	2013-02-13	2007-12-05	2007-12-05	ENSG00000124333	ENSG00000124333		"""Pseudoautosomal regions / PAR2"", ""Vesicle-associated membrane proteins"""	11486	protein-coding gene	gene with protein product		300053	"""synaptobrevin-like 1"""	SYBL1		8640232, 11440841	Standard	NM_001145149		Approved	VAMP-7, TI-VAMP	uc004fns.3	P51809	OTTHUMG00000022679	ENST00000286448.6:c.570_572delTAT	X.37:g.155169436_155169438delTAT	ENSP00000286448:p.Ile195del					VAMP7_ENST00000479687.1_3'UTR|VAMP7_ENST00000460621.1_In_Frame_Del_p.TI149del|VAMP7_ENST00000262640.6_In_Frame_Del_p.Y169del	p.TI190del	NM_001145149.2|NM_005638.5	NP_001138621.1|NP_005629.1	P51809	VAMP7_HUMAN			7	735_737	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		190					Q53GY7|Q7Z409|Q9H4A7	In_Frame_Del	DEL	ENST00000286448.6	37	c.570_572delTAT	CCDS14770.4																																																																																				0.355	VAMP7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058843.1	NM_005638		7	1170						7	1170	---	---	---	---
