#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
BSN	8927	broad.mit.edu	37	3	49662488	49662488	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr3:49662488C>T	ENST00000296452.4	+	2	419	c.305C>T	c.(304-306)aCc>aTc	p.T102I		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	102					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GCTTCTGCTACCACTCCTGGC	0.602																																						ENST00000296452.4																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106						c.(304-306)aCc>aTc		bassoon presynaptic cytomatrix protein							41.0	45.0	44.0					3																	49662488		2203	4300	6503	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49662488C>T	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.305C>T	3.37:g.49662488C>T	ENSP00000296452:p.Thr102Ile						p.T102I	NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	2	419	+			102					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.305C>T	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	C	10.10	1.256889	0.22965	.	.	ENSG00000164061	ENST00000296452	T	0.18810	2.19	4.95	4.04	0.47022	.	0.306378	0.25765	N	0.028452	T	0.14013	0.0339	N	0.22421	0.69	0.34588	D	0.715176	B	0.34015	0.435	B	0.30782	0.12	T	0.20806	-1.0264	10	0.36615	T	0.2	-2.2472	13.4975	0.61434	0.0:0.8443:0.1557:0.0	.	102	Q9UPA5	BSN_HUMAN	I	102	ENSP00000296452:T102I	ENSP00000296452:T102I	T	+	2	0	BSN	49637492	0.001000	0.12720	0.977000	0.42913	0.115000	0.19883	1.455000	0.35190	2.583000	0.87209	0.563000	0.77884	ACC		0.602	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		22	46	0	0	0	1	0	22	46				
KIAA1324L	222223	broad.mit.edu	37	7	86539140	86539140	+	Missense_Mutation	SNP	C	C	A			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr7:86539140C>A	ENST00000450689.2	-	16	2532	c.2347G>T	c.(2347-2349)Gat>Tat	p.D783Y	KIAA1324L_ENST00000416314.1_Missense_Mutation_p.D616Y|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.D543Y|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.D712Y	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	783						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					ATGAATGTATCTGCCAGAATG	0.358																																						ENST00000450689.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						c.(2347-2349)Gat>Tat		KIAA1324-like							151.0	144.0	147.0					7																	86539140		2203	4300	6503	SO:0001583	missense	222223					integral to membrane		g.chr7:86539140C>A	AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659			21945	protein-coding gene	gene with protein product	"""EIG121-like"""	614048					Standard	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000450689.2:c.2347G>T	7.37:g.86539140C>A	ENSP00000413445:p.Asp783Tyr					KIAA1324L_ENST00000444627.1_Missense_Mutation_p.D712Y|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.D616Y|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.D543Y	p.D783Y	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN			16	2532	-	Esophageal squamous(14;0.0058)		783					A4D1C9|B4DJV3|Q17RI6|Q96DP2	Missense_Mutation	SNP	ENST00000450689.2	37	c.2347G>T	CCDS47632.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.9|23.9	4.474501|4.474501	0.84640|0.84640	.|.	.|.	ENSG00000164659|ENSG00000164659	ENST00000450689;ENST00000297222;ENST00000444627;ENST00000416314|ENST00000423294	T;T;T;T|.	0.25250|.	2.22;1.9;1.81;1.98|.	5.87|5.87	5.87|5.87	0.94306|0.94306	Mannose-6-phosphate receptor, binding (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.79370|0.79370	0.4434|0.4434	M|M	0.80847|0.80847	2.515|2.515	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.85130|.	0.997;0.99;0.99|.	T|T	0.78909|0.78909	-0.2018|-0.2018	10|5	0.59425|.	D|.	0.04|.	.|.	19.2063|19.2063	0.93732|0.93732	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	783;543;616|.	A8MWY0;A8MWY0-2;B4DJV3|.	K132L_HUMAN;.;.|.	Y|I	783;543;712;616|743	ENSP00000413445:D783Y;ENSP00000297222:D543Y;ENSP00000397377:D712Y;ENSP00000402390:D616Y|.	ENSP00000297222:D543Y|.	D|R	-|-	1|2	0|0	KIAA1324L|KIAA1324L	86377076|86377076	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	5.761000|5.761000	0.68801|0.68801	2.785000|2.785000	0.95823|0.95823	0.655000|0.655000	0.94253|0.94253	GAT|AGA		0.358	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333372.3	NM_152748		42	55	1	0	3.05275e-18	1	3.24119e-18	42	55				
NR1D1	9572	broad.mit.edu	37	17	38252187	38252187	+	Missense_Mutation	SNP	G	G	A	rs576443916		TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr17:38252187G>A	ENST00000246672.3	-	5	1388	c.758C>T	c.(757-759)tCg>tTg	p.S253L		NM_021724.3	NP_068370.1	P20393	NR1D1_HUMAN	nuclear receptor subfamily 1, group D, member 1	253	Crucial for activation of GJA1. {ECO:0000250}.|Hinge.				cell differentiation (GO:0030154)|cellular response to lipopolysaccharide (GO:0071222)|circadian regulation of gene expression (GO:0032922)|circadian temperature homeostasis (GO:0060086)|gene expression (GO:0010467)|glycogen biosynthetic process (GO:0005978)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of bile acid biosynthetic process (GO:0070859)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasomal protein catabolic process (GO:0010498)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|regulation of fat cell differentiation (GO:0045598)|regulation of gluconeogenesis by regulation of transcription from RNA polymerase II promoter (GO:0035947)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of lipid metabolic process (GO:0019216)|regulation of type B pancreatic cell proliferation (GO:0061469)|response to leptin (GO:0044321)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|heme binding (GO:0020037)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|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)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)|transcription corepressor binding (GO:0001222)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(5)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	11	Colorectal(19;0.000442)					AGGGGGTGGCGAGGGGCCCAT	0.662													G|||	1	0.000199681	0.0	0.0	5008	,	,		12378	0.0		0.001	False		,,,				2504	0.0					ENST00000246672.3																			0				endometrium(1)|large_intestine(5)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	11						c.(757-759)tCg>tTg		nuclear receptor subfamily 1, group D, member 1							12.0	15.0	14.0					17																	38252187		2189	4271	6460	SO:0001583	missense	9572				cellular response to lipopolysaccharide|negative regulation of receptor biosynthetic process|negative regulation of toll-like receptor 4 signaling pathway|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr17:38252187G>A	X72631	CCDS11361.1	17q11.2	2013-01-16			ENSG00000126368	ENSG00000126368		"""Nuclear hormone receptors"""	7962	protein-coding gene	gene with protein product		602408		THRAL		1971514	Standard	NM_021724		Approved	ear-1, hRev, Rev-ErbAalpha, THRA1	uc002htz.3	P20393	OTTHUMG00000133327	ENST00000246672.3:c.758C>T	17.37:g.38252187G>A	ENSP00000246672:p.Ser253Leu						p.S253L	NM_021724.3	NP_068370.1	P20393	NR1D1_HUMAN			5	1388	-	Colorectal(19;0.000442)		253					Q0P5Z4|Q15304	Missense_Mutation	SNP	ENST00000246672.3	37	c.758C>T	CCDS11361.1	.	.	.	.	.	.	.	.	.	.	G	9.711	1.157053	0.21454	.	.	ENSG00000126368	ENST00000246672	D	0.90955	-2.76	4.31	4.31	0.51392	.	0.000000	0.48286	D	0.000196	D	0.86502	0.5948	L	0.47716	1.5	0.31782	N	0.630743	B	0.26602	0.154	B	0.13407	0.009	D	0.84961	0.0877	10	0.30854	T	0.27	.	16.0628	0.80852	0.0:0.0:1.0:0.0	.	253	P20393	NR1D1_HUMAN	L	253	ENSP00000246672:S253L	ENSP00000246672:S253L	S	-	2	0	NR1D1	35505713	1.000000	0.71417	0.947000	0.38551	0.127000	0.20565	4.253000	0.58791	2.388000	0.81334	0.563000	0.77884	TCG		0.662	NR1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257135.1			7	20	0	0	0	1	0	7	20				
P2RY11	5032	broad.mit.edu	37	19	10224931	10224931	+	Silent	SNP	C	C	T	rs370291693		TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr19:10224931C>T	ENST00000321826.4	+	2	826	c.642C>T	c.(640-642)tgC>tgT	p.C214C	PPAN-P2RY11_ENST00000428358.1_3'UTR|PPAN_ENST00000556468.1_Silent_p.C634C|PPAN-P2RY11_ENST00000393796.4_Silent_p.C634C	NM_002566.4	NP_002557.2	Q96G91	P2Y11_HUMAN	purinergic receptor P2Y, G-protein coupled, 11	214					activation of adenylate cyclase activity (GO:0007190)|adenosine receptor signaling pathway (GO:0001973)|calcium-mediated signaling (GO:0019722)|cellular response to ATP (GO:0071318)|defense response (GO:0006952)|G-protein coupled receptor signaling pathway (GO:0007186)|neuronal signal transduction (GO:0023041)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|neurotransmitter receptor activity (GO:0030594)|receptor activity (GO:0004872)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)	16			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			GGTTGGGCTGCGGCCTGCCGC	0.711													C|||	1	0.000199681	0.0	0.0	5008	,	,		13542	0.0		0.0	False		,,,				2504	0.001					ENST00000556468.1																			0				endometrium(3)|liver(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(1900-1902)tgC>tgT		peter pan homolog (Drosophila)							19.0	22.0	21.0					19																	10224931		2124	4129	6253	SO:0001819	synonymous_variant	56342							g.chr19:10224931C>T	AF030335	CCDS12226.1	19p13.2	2012-08-08			ENSG00000244165	ENSG00000244165		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8540	protein-coding gene	gene with protein product		602697				9405388	Standard	NM_002566		Approved	P2Y11		Q96G91	OTTHUMG00000150166	ENST00000321826.4:c.642C>T	19.37:g.10224931C>T						PPAN-P2RY11_ENST00000393796.4_Silent_p.C634C|P2RY11_ENST00000321826.4_Silent_p.C214C|PPAN-P2RY11_ENST00000428358.1_3'UTR	p.C634C					OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)		13	1929	+								B2R8X9|O43190|Q9BYU4|Q9H170	Silent	SNP	ENST00000321826.4	37	c.1902C>T	CCDS12226.1																																																																																				0.711	P2RY11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316664.2	NM_002566		17	33	0	0	0	1	0	17	33				
EPO	2056	broad.mit.edu	37	7	100320382	100320382	+	Silent	SNP	G	G	A			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr7:100320382G>A	ENST00000252723.2	+	4	523	c.342G>A	c.(340-342)ccG>ccA	p.P114P		NM_000799.2	NP_000790.2	P01588	EPO_HUMAN	erythropoietin	114					aging (GO:0007568)|apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular hyperosmotic response (GO:0071474)|cellular response to hypoxia (GO:0071456)|embryo implantation (GO:0007566)|erythrocyte maturation (GO:0043249)|hemoglobin biosynthetic process (GO:0042541)|negative regulation of calcium ion transport into cytosol (GO:0010523)|negative regulation of cation channel activity (GO:2001258)|negative regulation of erythrocyte apoptotic process (GO:1902251)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to axon injury (GO:0048678)|response to electrical stimulus (GO:0051602)|response to estrogen (GO:0043627)|response to hyperoxia (GO:0055093)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to salt stress (GO:0009651)|response to testosterone (GO:0033574)|response to vitamin A (GO:0033189)|signal transduction (GO:0007165)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	protein kinase activator activity (GO:0030295)			central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1)	12	Lung NSC(181;0.041)|all_lung(186;0.0581)					CTTCCCAGCCGTGGGAGCCCC	0.657																																						ENST00000252723.2																			0				central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1)	12						c.(340-342)ccG>ccA		erythropoietin	Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)						35.0	39.0	37.0					7																	100320382		2203	4300	6503	SO:0001819	synonymous_variant	2056				blood circulation|cellular hyperosmotic response|erythrocyte maturation|negative regulation of apoptosis|negative regulation of ion transmembrane transporter activity|negative regulation of sodium ion transport|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction	extracellular space	erythropoietin receptor binding|eukaryotic cell surface binding|hormone activity	g.chr7:100320382G>A	X02157	CCDS5705.1	7q21	2014-01-30			ENSG00000130427	ENSG00000130427		"""Endogenous ligands"""	3415	protein-coding gene	gene with protein product		133170				9799793, 3838366	Standard	NM_000799		Approved	EP	uc003uwi.3	P01588	OTTHUMG00000152121	ENST00000252723.2:c.342G>A	7.37:g.100320382G>A							p.P114P	NM_000799.2	NP_000790.2	P01588	EPO_HUMAN			4	523	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		114					Q2M2L6|Q549U2|Q9UDZ0|Q9UEZ5|Q9UHA0	Silent	SNP	ENST00000252723.2	37	c.342G>A	CCDS5705.1																																																																																				0.657	EPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325323.1	NM_000799		7	27	0	0	0	1	0	7	27				
ZNF777	27153	broad.mit.edu	37	7	149148162	149148162	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr7:149148162G>A	ENST00000247930.4	-	4	1338	c.1015C>T	c.(1015-1017)Cgc>Tgc	p.R339C		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	339	Glu-rich.|KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			CGCTCCCCGCGCTCCATCTGT	0.537																																						ENST00000247930.4																			0				large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26						c.(1015-1017)Cgc>Tgc		zinc finger protein 777							93.0	96.0	95.0					7																	149148162		2039	4188	6227	SO:0001583	missense	27153				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:149148162G>A	AB033111	CCDS43675.1	7q36.1	2013-01-08			ENSG00000196453	ENSG00000196453		"""Zinc fingers, C2H2-type"", ""-"""	22213	protein-coding gene	gene with protein product							Standard	NM_015694		Approved	KIAA1285	uc003wfv.3	Q9ULD5	OTTHUMG00000158967	ENST00000247930.4:c.1015C>T	7.37:g.149148162G>A	ENSP00000247930:p.Arg339Cys						p.R339C	NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00358)		4	1338	-	Melanoma(164;0.165)		339			Glu-rich.|KRAB.		Q8N2R2|Q8N659	Missense_Mutation	SNP	ENST00000247930.4	37	c.1015C>T	CCDS43675.1	.	.	.	.	.	.	.	.	.	.	G	16.44	3.124193	0.56613	.	.	ENSG00000196453	ENST00000247930;ENST00000314683	T	0.00848	5.62	5.47	4.51	0.55191	.	0.000000	0.48286	D	0.000183	T	0.03434	0.0099	L	0.49126	1.545	0.40338	D	0.979002	D	0.89917	1.0	D	0.72075	0.976	T	0.51028	-0.8757	10	0.72032	D	0.01	-21.8343	12.3015	0.54876	0.0:0.0:0.7565:0.2434	.	339	Q9ULD5-2	.	C	339;82	ENSP00000247930:R339C	ENSP00000247930:R339C	R	-	1	0	ZNF777	148779095	0.740000	0.28207	0.996000	0.52242	0.474000	0.32979	3.328000	0.52052	2.567000	0.86603	0.650000	0.86243	CGC		0.537	ZNF777-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352708.1	NM_015694		33	52	0	0	0	1	0	33	52				
DCHS2	54798	broad.mit.edu	37	4	155219106	155219106	+	Silent	SNP	C	C	T			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr4:155219106C>T	ENST00000357232.4	-	18	4994	c.4995G>A	c.(4993-4995)agG>agA	p.R1665R		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1665	Cadherin 14. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R1665R(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CCGTGGTTGTCCTGGCTGGAA	0.433																																						ENST00000357232.3																			1	Substitution - coding silent(1)	p.R1665R(1)	skin(1)	NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(4993-4995)agG>agA		dachsous cadherin-related 2							74.0	75.0	75.0					4																	155219106		2203	4300	6503	SO:0001819	synonymous_variant	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155219106C>T	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.4995G>A	4.37:g.155219106C>T							p.R1665R	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	18	4994	-	all_hematologic(180;0.208)	Renal(120;0.0854)	1665			Cadherin 14.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	37	c.4995G>A	CCDS3785.1																																																																																				0.433	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		9	34	0	0	0	1	0	9	34				
PI4KA	5297	broad.mit.edu	37	22	21156286	21156286	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr22:21156286C>T	ENST00000572273.1	-	14	1755	c.1525G>A	c.(1525-1527)Gac>Aac	p.D509N	PI4KA_ENST00000255882.6_Missense_Mutation_p.D567N			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	509					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			ATAGCGATGTCTCGGAGCTGC	0.483																																					GBM(136;1332 1831 3115 23601 50806)	ENST00000255882.6																			0				breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79						c.(1699-1701)Gac>Aac		phosphatidylinositol 4-kinase, catalytic, alpha							130.0	102.0	112.0					22																	21156286		2203	4300	6503	SO:0001583	missense	5297				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr22:21156286C>T	L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.1525G>A	22.37:g.21156286C>T	ENSP00000458238:p.Asp509Asn					PI4KA_ENST00000572273.1_Missense_Mutation_p.D509N	p.D567N	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		14	1785	-	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	509					Q7Z625|Q9UPG2	Missense_Mutation	SNP	ENST00000572273.1	37	c.1699G>A		.	.	.	.	.	.	.	.	.	.	C	26.2	4.719601	0.89205	.	.	ENSG00000241973	ENST00000255882	T	0.47177	0.85	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	T	0.41673	0.1169	L	0.44542	1.39	0.80722	D	1	P;P	0.41929	0.708;0.765	B;B	0.38985	0.227;0.287	T	0.26052	-1.0114	10	0.22109	T	0.4	-30.2689	17.7793	0.88518	0.0:1.0:0.0:0.0	.	567;509	D3DX33;P42356	.;PI4KA_HUMAN	N	509	ENSP00000255882:D509N	ENSP00000255882:D509N	D	-	1	0	PI4KA	19486286	1.000000	0.71417	0.998000	0.56505	0.924000	0.55760	7.651000	0.83577	2.440000	0.82611	0.491000	0.48974	GAC		0.483	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004		25	78	0	0	0	1	0	25	78				
SPTA1	6708	broad.mit.edu	37	1	158592846	158592846	+	Missense_Mutation	SNP	C	C	T	rs199993378		TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr1:158592846C>T	ENST00000368147.4	-	43	6227	c.6047G>A	c.(6046-6048)cGc>cAc	p.R2016H		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2016					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.R2016H(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTGTTCCCAGCGCTTCAGCAG	0.478																																						ENST00000368148.3																			1	Substitution - Missense(1)	p.R2016H(1)	lung(1)	NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(6046-6048)cGc>cAc		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)		C	HIS/ARG	3,3867		0,3,1932	231.0	230.0	231.0		6047	-1.5	0.6	1		231	1,8273		0,1,4136	yes	missense	SPTA1	NM_003126.2	29	0,4,6068	TT,TC,CC		0.0121,0.0775,0.0329	benign	2016/2420	158592846	4,12140	1935	4137	6072	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158592846C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.6047G>A	1.37:g.158592846C>T	ENSP00000357129:p.Arg2016His					SPTA1_ENST00000461624.1_5'UTR|SPTA1_ENST00000368147.3_Missense_Mutation_p.R2013H	p.R2016H	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			43	6227	-	all_hematologic(112;0.0378)		2016					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.6047G>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	10.22	1.288856	0.23478	7.75E-4	1.21E-4	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.40476	1.03;1.03	4.78	-1.49	0.08718	.	.	.	.	.	T	0.17619	0.0423	L	0.56340	1.77	0.38903	D	0.957367	P	0.47106	0.89	B	0.41723	0.365	T	0.10132	-1.0643	9	0.40728	T	0.16	.	5.6431	0.17575	0.1234:0.5367:0.0:0.3399	.	2016	P02549	SPTA1_HUMAN	H	2016;2013	ENSP00000357130:R2016H;ENSP00000357129:R2013H	ENSP00000357129:R2013H	R	-	2	0	SPTA1	156859470	0.999000	0.42202	0.633000	0.29310	0.020000	0.10135	0.741000	0.26202	-0.360000	0.08138	-0.136000	0.14681	CGC		0.478	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		82	186	0	0	0	1	0	82	186				
ST6GALNAC1	55808	broad.mit.edu	37	17	74621474	74621474	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr17:74621474C>T	ENST00000156626.7	-	9	1940	c.1741G>A	c.(1741-1743)Gat>Aat	p.D581N	ST6GALNAC1_ENST00000590878.1_5'Flank	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	581					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						ATCCCTTCATCGTGTAGCCGC	0.532																																						ENST00000156626.7																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(1741-1743)Gat>Aat		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1							72.0	59.0	63.0					17																	74621474		2203	4300	6503	SO:0001583	missense	55808				protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity	g.chr17:74621474C>T	Y11339	CCDS11748.1	17q25.3	2013-03-01	2005-02-07	2005-02-07	ENSG00000070526	ENSG00000070526		"""Sialyltransferases"""	23614	protein-coding gene	gene with protein product		610138	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) A"""	SIAT7A			Standard	NM_001289107		Approved	ST6GalNAcI	uc002jsh.3	Q9NSC7	OTTHUMG00000180369	ENST00000156626.7:c.1741G>A	17.37:g.74621474C>T	ENSP00000156626:p.Asp581Asn						p.D581N	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN			9	1940	-			581					Q6UW90|Q9NSC6	Missense_Mutation	SNP	ENST00000156626.7	37	c.1741G>A	CCDS11748.1	.	.	.	.	.	.	.	.	.	.	C	9.278	1.047441	0.19827	.	.	ENSG00000070526	ENST00000156626	T	0.28666	1.6	5.07	0.604	0.17547	.	0.257660	0.36134	N	0.002767	T	0.27489	0.0675	L	0.50333	1.59	0.36480	D	0.86777	P	0.48294	0.908	P	0.45506	0.483	T	0.22173	-1.0224	10	0.66056	D	0.02	-12.3376	6.497	0.22148	0.0:0.5475:0.2464:0.2061	.	581	Q9NSC7	SIA7A_HUMAN	N	581	ENSP00000156626:D581N	ENSP00000156626:D581N	D	-	1	0	ST6GALNAC1	72133069	0.001000	0.12720	0.009000	0.14445	0.070000	0.16714	0.100000	0.15231	0.235000	0.21160	0.655000	0.94253	GAT		0.532	ST6GALNAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450974.1	NM_018414		5	41	0	0	0	1	0	5	41				
CHP2	63928	broad.mit.edu	37	16	23767170	23767170	+	Missense_Mutation	SNP	G	G	A	rs147617371	byFrequency	TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr16:23767170G>A	ENST00000300113.2	+	3	566	c.143G>A	c.(142-144)cGc>cAc	p.R48H		NM_022097.2	NP_071380.1	O43745	CHP2_HUMAN	calcineurin-like EF-hand protein 2	48	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular response to calcium ion (GO:0071277)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R48H(1)		central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1)	9				GBM - Glioblastoma multiforme(48;0.0144)		CTTTGCAGCCGCATGGATCTC	0.567													G|||	14	0.00279553	0.0106	0.0	5008	,	,		16873	0.0		0.0	False		,,,				2504	0.0					ENST00000300113.2																			1	Substitution - Missense(1)	p.R48H(1)	large_intestine(1)	central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1)	9						c.(142-144)cGc>cAc		calcineurin-like EF-hand protein 2		G	HIS/ARG	18,4376	25.3+/-52.1	0,18,2179	41.0	47.0	45.0		143	3.7	1.0	16	dbSNP_134	45	0,8600		0,0,4300	yes	missense	CHP2	NM_022097.2	29	0,18,6479	AA,AG,GG		0.0,0.4096,0.1385	probably-damaging	48/197	23767170	18,12976	2197	4300	6497	SO:0001583	missense	63928						calcium ion binding	g.chr16:23767170G>A		CCDS10617.1	16p12.2	2013-01-11	2013-01-11		ENSG00000166869	ENSG00000166869		"""EF-hand domain containing"""	24927	protein-coding gene	gene with protein product						12226101	Standard	NM_022097		Approved		uc002dmb.1	O43745	OTTHUMG00000131611	ENST00000300113.2:c.143G>A	16.37:g.23767170G>A	ENSP00000300113:p.Arg48His						p.R48H	NM_022097.2	NP_071380.1	O43745	CHP2_HUMAN		GBM - Glioblastoma multiforme(48;0.0144)	3	566	+			48			EF-hand 1.		A8K2I8	Missense_Mutation	SNP	ENST00000300113.2	37	c.143G>A	CCDS10617.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	G	16.23	3.065810	0.55539	0.004096	0.0	ENSG00000166869	ENST00000300113	T	0.69561	-0.41	4.65	3.69	0.42338	EF-hand-like domain (1);	0.071753	0.56097	D	0.000035	T	0.60011	0.2236	M	0.77616	2.38	0.52501	D	0.999954	P	0.35774	0.519	B	0.40066	0.318	T	0.63014	-0.6731	10	0.30078	T	0.28	-13.3438	10.6331	0.45549	0.0946:0.0:0.9054:0.0	.	48	O43745	CHP2_HUMAN	H	48	ENSP00000300113:R48H	ENSP00000300113:R48H	R	+	2	0	AC130454.2	23674671	1.000000	0.71417	0.998000	0.56505	0.954000	0.61252	3.574000	0.53863	1.311000	0.45024	0.591000	0.81541	CGC		0.567	CHP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254498.1	NM_022097		9	33	0	0	0	1	0	9	33				
NBL1	4681	broad.mit.edu	37	1	19981506	19981506	+	5'UTR	SNP	G	G	A			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr1:19981506G>A	ENST00000375136.3	+	0	286				NBL1_ENST00000548815.1_5'UTR|NBL1_ENST00000289749.2_Splice_Site_p.A30T|MINOS1-NBL1_ENST00000602662.1_5'UTR	NM_001204085.1|NM_001204089.1|NM_001278164.1|NM_001278166.1	NP_001191014.1|NP_001191018.1|NP_001265093.1|NP_001265095.1	P41271	NBL1_HUMAN	neuroblastoma 1, DAN family BMP antagonist						determination of dorsal identity (GO:0048263)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of monocyte chemotaxis (GO:0090027)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)|positive regulation of neuron differentiation (GO:0045666)|sequestering of BMP from receptor via BMP binding (GO:0038098)|sequestering of BMP in extracellular matrix (GO:0035582)	extracellular space (GO:0005615)	BMP binding (GO:0036122)|morphogen activity (GO:0016015)|protein homodimerization activity (GO:0042803)			lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00043)|Ovarian(437;0.00373)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.9e-05)|Kidney(64;0.000173)|GBM - Glioblastoma multiforme(114;0.0012)|KIRC - Kidney renal clear cell carcinoma(64;0.0026)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCGTTCTAGGGCTCTGGAGGC	0.632																																						ENST00000289749.2																			0				lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						c.e2-1		neuroblastoma 1, DAN family BMP antagonist							38.0	36.0	36.0					1																	19981506		2203	4300	6503	SO:0001623	5_prime_UTR_variant	4681					extracellular region		g.chr1:19981506G>A		CCDS196.1, CCDS41278.1, CCDS196.2, CCDS72720.1	1p36.3-p36.2	2013-02-26	2013-02-26		ENSG00000158747	ENSG00000158747			7650	protein-coding gene	gene with protein product	"""neuroblastoma candidate region, suppression of tumorigenicity 1"", ""neuroblastoma suppressor of tumorigenicity 1"", ""differential screening-selected gene aberrant in neuroblastoma"""	600613	"""neuroblastoma, suppression of tumorigenicity 1"""			7633401	Standard	NM_182744		Approved	D1S1733E, NB, DAN, NO3, DAND1	uc001bcj.2	P41271	OTTHUMG00000002700	ENST00000375136.3:c.-18G>A	1.37:g.19981506G>A						MINOS1-NBL1_ENST00000602662.1_5'UTR|NBL1_ENST00000375136.3_5'UTR|NBL1_ENST00000548815.1_5'UTR	p.A30_splice	NM_182744.3	NP_877421.2	P41271	NBL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.9e-05)|Kidney(64;0.000173)|GBM - Glioblastoma multiforme(114;0.0012)|KIRC - Kidney renal clear cell carcinoma(64;0.0026)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	2	168	+		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00043)|Ovarian(437;0.00373)|Myeloproliferative disorder(586;0.0255)	0					A3KFI7|Q5TGZ2|Q5U0N4|Q96L68	Splice_Site	SNP	ENST00000375136.3	37	c.86_splice	CCDS196.2	.	.	.	.	.	.	.	.	.	.	G	14.61	2.586957	0.46110	.	.	ENSG00000158747	ENST00000289749;ENST00000439278	T;T	0.48201	1.52;0.82	4.15	1.25	0.21368	.	.	.	.	.	T	0.21347	0.0514	N	0.08118	0	0.28621	N	0.908174	B	0.06786	0.001	B	0.09377	0.004	T	0.21415	-1.0246	8	.	.	.	-15.2378	3.2167	0.06701	0.3078:0.0:0.5069:0.1853	.	30	P41271-2	.	T	30;29	ENSP00000289749:A30T;ENSP00000391858:A29T	.	A	+	1	0	NBL1	19854093	0.035000	0.19736	0.956000	0.39512	0.525000	0.34531	-0.030000	0.12308	0.160000	0.19432	0.462000	0.41574	GCT		0.632	NBL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000007681.4	NM_005380		7	16	0	0	0	1	0	7	16				
CACNA1E	777	broad.mit.edu	37	1	181680189	181680189	+	Silent	SNP	C	C	T			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr1:181680189C>T	ENST00000367573.2	+	8	1155	c.1155C>T	c.(1153-1155)gcC>gcT	p.A385A	CACNA1E_ENST00000526775.1_Silent_p.A385A|CACNA1E_ENST00000367570.1_Silent_p.A385A|CACNA1E_ENST00000357570.5_Silent_p.A336A|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000360108.3_Silent_p.A385A|CACNA1E_ENST00000358338.5_Silent_p.A336A	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	385	Binding to the beta subunit. {ECO:0000250}.				calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GCTACCGTGCCTGGATAGACA	0.592																																						ENST00000526775.1																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(1153-1155)gcC>gcT		calcium channel, voltage-dependent, R type, alpha 1E subunit							54.0	59.0	57.0					1																	181680189		1991	4168	6159	SO:0001819	synonymous_variant	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181680189C>T	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.1155C>T	1.37:g.181680189C>T						CACNA1E_ENST00000357570.5_Silent_p.A336A|CACNA1E_ENST00000358338.5_Silent_p.A336A|CACNA1E_ENST00000367570.1_Silent_p.A385A|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000367573.2_Silent_p.A385A|CACNA1E_ENST00000360108.3_Silent_p.A385A	p.A385A	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			8	1320	+			385			Binding to the beta subunit (By similarity).		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	ENST00000367573.2	37	c.1155C>T	CCDS55664.1																																																																																				0.592	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		16	44	0	0	0	1	0	16	44				
VILL	50853	broad.mit.edu	37	3	38047368	38047368	+	Missense_Mutation	SNP	G	G	C			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr3:38047368G>C	ENST00000283713.6	+	17	2302	c.2036G>C	c.(2035-2037)gGg>gCg	p.G679A	VILL_ENST00000383759.2_Missense_Mutation_p.G679A|VILL_ENST00000465644.1_Missense_Mutation_p.G397A			O15195	VILL_HUMAN	villin-like	679					actin filament capping (GO:0051693)|cytoskeleton organization (GO:0007010)	actin cytoskeleton (GO:0015629)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CACCCAGCAGGGAGGAGCCCG	0.612																																						ENST00000283713.6																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28						c.(2035-2037)gGg>gCg		villin-like							98.0	100.0	100.0					3																	38047368		2203	4300	6503	SO:0001583	missense	50853				actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton	g.chr3:38047368G>C		CCDS2670.2	3p21	2004-07-28			ENSG00000136059	ENSG00000136059			30906	protein-coding gene	gene with protein product						9179494	Standard	XM_005265191		Approved		uc003chl.3	O15195	OTTHUMG00000130814	ENST00000283713.6:c.2036G>C	3.37:g.38047368G>C	ENSP00000283713:p.Gly679Ala					VILL_ENST00000465644.1_Missense_Mutation_p.G397A|VILL_ENST00000383759.2_Missense_Mutation_p.G679A	p.G679A			O15195	VILL_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)	17	2302	+			679					A8MZP1|Q9BT80|Q9BWH7	Missense_Mutation	SNP	ENST00000283713.6	37	c.2036G>C	CCDS2670.2	.	.	.	.	.	.	.	.	.	.	G	18.88	3.716705	0.68844	.	.	ENSG00000136059	ENST00000283713;ENST00000383759;ENST00000356246;ENST00000465644	T;T;T	0.53423	0.62;0.62;0.62	4.5	3.6	0.41247	Gelsolin domain (1);	0.104238	0.64402	D	0.000003	T	0.59783	0.2219	M	0.69823	2.125	0.37716	D	0.924724	P	0.45986	0.87	P	0.55508	0.777	T	0.65010	-0.6272	10	0.45353	T	0.12	-19.8631	11.5153	0.50518	0.0917:0.0:0.9083:0.0	.	679	O15195	VILL_HUMAN	A	679;679;665;397	ENSP00000283713:G679A;ENSP00000373266:G679A;ENSP00000422096:G397A	ENSP00000283713:G679A	G	+	2	0	VILL	38022372	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	3.241000	0.51376	0.986000	0.38683	0.462000	0.41574	GGG		0.612	VILL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253360.3	NM_015873		29	73	0	0	0	1	0	29	73				
DPEP2	64174	broad.mit.edu	37	16	68025823	68025823	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr16:68025823C>T	ENST00000572888.1	-	4	1230	c.580G>A	c.(580-582)Gac>Aac	p.D194N	DPEP2_ENST00000412757.2_Missense_Mutation_p.D194N|DPEP2_ENST00000393847.1_Missense_Mutation_p.D194N			Q9H4A9	DPEP2_HUMAN	dipeptidase 2	194					arachidonic acid metabolic process (GO:0019369)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metalloexopeptidase activity (GO:0008235)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		AGGCTATTGTCCAGCGAGTGG	0.567																																						ENST00000412757.2																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17						c.(580-582)Gac>Aac		dipeptidase 2							121.0	104.0	109.0					16																	68025823		2198	4300	6498	SO:0001583	missense	64174				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity	g.chr16:68025823C>T	AJ295149	CCDS10857.1	16q22.1	2011-07-22			ENSG00000167261	ENSG00000167261	3.4.13.19		23028	protein-coding gene	gene with protein product		609925					Standard	NM_022355		Approved		uc002eve.4	Q9H4A9	OTTHUMG00000137542	ENST00000572888.1:c.580G>A	16.37:g.68025823C>T	ENSP00000458977:p.Asp194Asn					DPEP2_ENST00000393847.1_Missense_Mutation_p.D194N|DPEP2_ENST00000572888.1_Missense_Mutation_p.D194N	p.D194N			Q9H4A9	DPEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)	6	1245	-		Ovarian(137;0.192)	194					B2RCF8|Q6UX92|Q8TC95	Missense_Mutation	SNP	ENST00000572888.1	37	c.580G>A	CCDS10857.1	.	.	.	.	.	.	.	.	.	.	C	34	5.361784	0.95877	.	.	ENSG00000167261	ENST00000393847;ENST00000412757;ENST00000322384	T;T	0.23147	1.92;1.92	4.78	4.78	0.61160	.	0.052445	0.64402	D	0.000001	T	0.48822	0.1521	M	0.64404	1.975	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.85130	0.997;0.993	T	0.38993	-0.9635	10	0.44086	T	0.13	-27.4508	17.0878	0.86615	0.0:1.0:0.0:0.0	.	194;107	Q9H4A9;Q9H4A9-2	DPEP2_HUMAN;.	N	194;194;107	ENSP00000377430:D194N;ENSP00000412549:D194N	ENSP00000314702:D107N	D	-	1	0	DPEP2	66583324	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	7.390000	0.79816	2.654000	0.90174	0.561000	0.74099	GAC		0.567	DPEP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437026.1	NM_022355		12	48	0	0	0	1	0	12	48				
TRAPPC10	7109	broad.mit.edu	37	21	45502929	45502929	+	Missense_Mutation	SNP	G	G	A	rs149129671	byFrequency	TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr21:45502929G>A	ENST00000291574.4	+	14	2159	c.1984G>A	c.(1984-1986)Gca>Aca	p.A662T		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	662					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						ACCCGAGACCGCACCTTTCCC	0.483													G|||	2	0.000399361	0.0	0.0	5008	,	,		22405	0.0		0.002	False		,,,				2504	0.0					ENST00000291574.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						c.(1984-1986)Gca>Aca		trafficking protein particle complex 10		G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	138.0	134.0	136.0		1984	-1.2	0.0	21	dbSNP_134	136	5,8595	4.3+/-15.6	0,5,4295	yes	missense	TRAPPC10	NM_003274.4	58	0,6,6497	AA,AG,GG		0.0581,0.0227,0.0461	benign	662/1260	45502929	6,13000	2203	4300	6503	SO:0001583	missense	7109				vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	g.chr21:45502929G>A	U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"""Trafficking protein particle complex"""	11868	protein-coding gene	gene with protein product	"""trafficking protein particle complex subunit 130"", ""TRAPP 130 kDa subunit"""	602103	"""transmembrane protein 1"""	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.1984G>A	21.37:g.45502929G>A	ENSP00000291574:p.Ala662Thr						p.A662T	NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN			14	2159	+			662					Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Missense_Mutation	SNP	ENST00000291574.4	37	c.1984G>A	CCDS13704.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	2.241	-0.373840	0.05034	2.27E-4	5.81E-4	ENSG00000160218	ENST00000291574	T	0.23348	1.91	5.58	-1.25	0.09405	.	0.740441	0.12965	N	0.424635	T	0.09468	0.0233	N	0.08118	0	0.09310	N	1	B	0.25486	0.127	B	0.19148	0.024	T	0.37641	-0.9697	10	0.12766	T	0.61	.	6.9167	0.24363	0.1016:0.0743:0.5992:0.2249	.	662	P48553	TPC10_HUMAN	T	662	ENSP00000291574:A662T	ENSP00000291574:A662T	A	+	1	0	TRAPPC10	44327357	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.426000	0.07008	-0.470000	0.06901	-0.976000	0.02587	GCA		0.483	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195737.1	NM_003274		4	97	0	0	0	1	0	4	97				
PLRG1	5356	broad.mit.edu	37	4	155467028	155467028	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr4:155467028G>A	ENST00000499023.2	-	6	578	c.452C>T	c.(451-453)cCt>cTt	p.P151L	PLRG1_ENST00000393905.2_Missense_Mutation_p.P151L|PLRG1_ENST00000302078.5_Missense_Mutation_p.P142L|RNU6-1285P_ENST00000363480.1_RNA	NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN	pleiotropic regulator 1	151					mRNA splicing, via spliceosome (GO:0000398)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|protein localization to nucleus (GO:0034504)|regulation of RNA biosynthetic process (GO:2001141)|signal transduction (GO:0007165)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				AGAAGCCCCAGGATGTCGGTA	0.423																																						ENST00000499023.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22						c.(451-453)cCt>cTt		pleiotropic regulator 1							65.0	59.0	61.0					4																	155467028		2203	4300	6503	SO:0001583	missense	5356					catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity	g.chr4:155467028G>A	AF044333	CCDS34083.1, CCDS56341.1	4q31.2-q32.1	2013-01-10	2011-05-19		ENSG00000171566	ENSG00000171566		"""WD repeat domain containing"""	9089	protein-coding gene	gene with protein product	"""transport and golgi organization 4 homolog (Drosophila)"""	605961	"""pleiotropic regulator 1 (PRL1, Arabidopsis homolog)"", ""pleiotropic regulator 1 (PRL1 homolog, Arabidopsis)"""				Standard	NM_002669		Approved	PRL1, Prp46, PRPF46, Cwc1, TANGO4	uc003iny.3	O43660	OTTHUMG00000161411	ENST00000499023.2:c.452C>T	4.37:g.155467028G>A	ENSP00000424417:p.Pro151Leu					PLRG1_ENST00000393905.2_Missense_Mutation_p.P151L|PLRG1_ENST00000302078.5_Missense_Mutation_p.P142L	p.P151L	NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN			6	578	-	all_hematologic(180;0.215)	Renal(120;0.0854)	151					B3KMK4|Q3KQY5|Q8WUD8	Missense_Mutation	SNP	ENST00000499023.2	37	c.452C>T	CCDS34083.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.060197	0.55432	.	.	ENSG00000171566	ENST00000499023;ENST00000393905;ENST00000302078;ENST00000504341	T;T;T	0.61510	0.1;0.1;0.14	4.72	4.72	0.59763	.	0.237656	0.41823	D	0.000813	T	0.38532	0.1044	N	0.08118	0	0.43471	D	0.995688	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.17258	-1.0375	10	0.28530	T	0.3	-7.5539	16.6431	0.85134	0.0:0.0:1.0:0.0	.	142;151	O43660-2;O43660	.;PLRG1_HUMAN	L	151;151;142;149	ENSP00000424417:P151L;ENSP00000377483:P151L;ENSP00000303191:P142L	ENSP00000303191:P142L	P	-	2	0	PLRG1	155686478	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	5.922000	0.70036	2.312000	0.78011	0.650000	0.86243	CCT		0.423	PLRG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364824.1	NM_002669		12	20	0	0	0	1	0	12	20				
DDRGK1	65992	broad.mit.edu	37	20	3175950	3175950	+	Missense_Mutation	SNP	T	T	G			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr20:3175950T>G	ENST00000354488.3	-	5	617	c.560A>C	c.(559-561)gAg>gCg	p.E187A	DDRGK1_ENST00000380201.2_Missense_Mutation_p.E187A	NM_023935.1	NP_076424.1	Q96HY6	DDRGK_HUMAN	DDRGK domain containing 1	187						endoplasmic reticulum (GO:0005783)				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1)	7						CAGGTACTCCTCATGCTCCCG	0.627																																						ENST00000354488.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1)	7						c.(559-561)gAg>gCg		DDRGK domain containing 1							144.0	118.0	127.0					20																	3175950		2203	4300	6503	SO:0001583	missense	65992					endoplasmic reticulum	protein binding	g.chr20:3175950T>G	AL121891	CCDS13050.1	20p13	2011-08-18	2008-10-03	2008-10-03	ENSG00000198171	ENSG00000198171			16110	protein-coding gene	gene with protein product	"""Dashurin"""		"""chromosome 20 open reading frame 116"""	C20orf116		20036718, 20228063, 21494687	Standard	NM_023935		Approved	dJ1187M17.3	uc002wic.3	Q96HY6	OTTHUMG00000031732	ENST00000354488.3:c.560A>C	20.37:g.3175950T>G	ENSP00000346483:p.Glu187Ala					DDRGK1_ENST00000380201.2_Missense_Mutation_p.E187A	p.E187A	NM_023935.1	NP_076424.1	Q96HY6	DDRGK_HUMAN			5	617	-			187					A6NIU5|C9JSZ5|Q9BW47	Missense_Mutation	SNP	ENST00000354488.3	37	c.560A>C	CCDS13050.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.389169	0.82902	.	.	ENSG00000198171	ENST00000354488;ENST00000380213;ENST00000380201	T	0.55588	0.51	4.48	4.48	0.54585	.	0.053754	0.64402	D	0.000001	T	0.70771	0.3262	M	0.77820	2.39	0.80722	D	1	D;D	0.69078	0.996;0.997	D;D	0.79784	0.993;0.992	T	0.75031	-0.3461	10	0.87932	D	0	-5.0282	11.7517	0.51852	0.0:0.0:0.0:1.0	.	187;187	Q96HY6-2;Q96HY6	.;DDRGK_HUMAN	A	187	ENSP00000346483:E187A	ENSP00000346483:E187A	E	-	2	0	DDRGK1	3123950	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	6.571000	0.74000	1.874000	0.54306	0.460000	0.39030	GAG		0.627	DDRGK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077709.2	NM_023935		13	53	0	0	0	1	0	13	53				
UBQLN4	56893	broad.mit.edu	37	1	156013896	156013896	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr1:156013896G>A	ENST00000368309.3	-	6	1111	c.1019C>T	c.(1018-1020)tCc>tTc	p.S340F		NM_020131.3	NP_064516.2	Q9NRR5	UBQL4_HUMAN	ubiquilin 4	340					regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|polyubiquitin binding (GO:0031593)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)	16	Hepatocellular(266;0.133)|all_neural(408;0.195)					GGGGGCCTGGGAGGTGGGGGG	0.687																																						ENST00000368309.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)	16						c.(1018-1020)tCc>tTc		ubiquilin 4							8.0	10.0	10.0					1																	156013896		2079	4122	6201	SO:0001583	missense	56893					cytosol|endoplasmic reticulum membrane|nucleus	identical protein binding	g.chr1:156013896G>A	BC018403	CCDS1127.1	1q21	2013-02-12	2004-11-05	2004-11-06	ENSG00000160803	ENSG00000160803		"""Ubiquilin family"""	1237	protein-coding gene	gene with protein product	"""ataxin-1 ubiquitin-like interacting protein"""	605440	"""chromosome 1 open reading frame 6"""	C1orf6		10575211, 11001934	Standard	NM_020131		Approved	A1U, UBIN	uc001fna.3	Q9NRR5	OTTHUMG00000017461	ENST00000368309.3:c.1019C>T	1.37:g.156013896G>A	ENSP00000357292:p.Ser340Phe					UBQLN4_ENST00000368307.1_Intron	p.S340F	NM_020131.3	NP_064516.2	Q9NRR5	UBQL4_HUMAN			6	1111	-	Hepatocellular(266;0.133)|all_neural(408;0.195)		340					A6ND44|B2RAY7|Q5VYA0|Q5VYA1|Q9BR98|Q9UHX4	Missense_Mutation	SNP	ENST00000368309.3	37	c.1019C>T	CCDS1127.1	.	.	.	.	.	.	.	.	.	.	G	19.92	3.915849	0.73098	.	.	ENSG00000160803	ENST00000368309	T	0.59502	0.26	5.24	5.24	0.73138	.	0.213799	0.49916	D	0.000123	T	0.69468	0.3114	M	0.73598	2.24	0.80722	D	1	D;D	0.64830	0.994;0.994	P;P	0.61201	0.885;0.76	T	0.72981	-0.4126	10	0.87932	D	0	-21.352	17.5815	0.87970	0.0:0.0:1.0:0.0	.	320;340	B4DZF6;Q9NRR5	.;UBQL4_HUMAN	F	340	ENSP00000357292:S340F	ENSP00000357292:S340F	S	-	2	0	UBQLN4	154280520	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.827000	0.62723	2.723000	0.93209	0.655000	0.94253	TCC		0.687	UBQLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046193.1	NM_020131		8	15	0	0	0	1	0	8	15				
SNTG1	54212	broad.mit.edu	37	8	51705355	51705355	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr8:51705355C>T	ENST00000522124.1	+	19	2181	c.1520C>T	c.(1519-1521)tCt>tTt	p.S507F	SNTG1_ENST00000518864.1_Missense_Mutation_p.S507F|SNTG1_ENST00000517473.1_Missense_Mutation_p.S470F|SNTG1_ENST00000276467.5_Missense_Mutation_p.S470F	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	507					cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				GCTGCCAGCTCTGCTACCACG	0.428																																						ENST00000522124.1																			0				NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66						c.(1519-1521)tCt>tTt		syntrophin, gamma 1							159.0	146.0	150.0					8																	51705355		2203	4300	6503	SO:0001583	missense	54212				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	g.chr8:51705355C>T	AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.1520C>T	8.37:g.51705355C>T	ENSP00000429842:p.Ser507Phe					SNTG1_ENST00000518864.1_Missense_Mutation_p.S507F|SNTG1_ENST00000276467.5_Missense_Mutation_p.S470F|SNTG1_ENST00000517473.1_Missense_Mutation_p.S470F	p.S507F	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN			19	2181	+		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)	507					Q2M3Q0|Q9NY98	Missense_Mutation	SNP	ENST00000522124.1	37	c.1520C>T	CCDS6147.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.173250	0.38413	.	.	ENSG00000147481	ENST00000518864;ENST00000522124;ENST00000517473;ENST00000276467	T;T;T;T	0.32272	1.46;1.46;2.02;2.02	5.45	5.45	0.79879	.	0.954601	0.08789	N	0.893485	T	0.41190	0.1148	N	0.14661	0.345	0.39781	D	0.972297	D;D	0.60160	0.987;0.978	P;P	0.60682	0.878;0.758	T	0.45527	-0.9255	10	0.62326	D	0.03	-21.4521	18.2622	0.90039	0.0:1.0:0.0:0.0	.	470;507	Q9NSN8-2;Q9NSN8	.;SNTG1_HUMAN	F	507;507;470;470	ENSP00000429276:S507F;ENSP00000429842:S507F;ENSP00000431123:S470F;ENSP00000276467:S470F	ENSP00000276467:S470F	S	+	2	0	SNTG1	51867908	1.000000	0.71417	0.810000	0.32431	0.033000	0.12548	3.588000	0.53964	2.544000	0.85801	0.637000	0.83480	TCT		0.428	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377964.1			21	52	0	0	0	1	0	21	52				
CDK12	51755	broad.mit.edu	37	17	37646964	37646964	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr17:37646964C>T	ENST00000447079.4	+	3	2119	c.2086C>T	c.(2086-2088)Caa>Taa	p.Q696*	CDK12_ENST00000430627.2_Nonsense_Mutation_p.Q696*	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	696					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						ACCACCTCAGCAACCATATAA	0.448			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																												ENST00000447079.4				Rec	yes		17	17q12	51755	"""Mis, N, F"""	cyclin-dependent kinase 12			E			serous ovarian		0				NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						c.(2086-2088)Caa>Taa		cyclin-dependent kinase 12							78.0	77.0	77.0					17																	37646964		2203	4300	6503	SO:0001587	stop_gained	51755				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr17:37646964C>T	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.2086C>T	17.37:g.37646964C>T	ENSP00000398880:p.Gln696*	TCGA Ovarian(9;0.13)				CDK12_ENST00000430627.2_Nonsense_Mutation_p.Q696*	p.Q696*	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN			3	2119	+			696					A7E2B2|B4DYX4|B9EIQ6|O94978	Nonsense_Mutation	SNP	ENST00000447079.4	37	c.2086C>T	CCDS11337.1	.	.	.	.	.	.	.	.	.	.	C	37	6.475616	0.97598	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	.	.	.	5.06	5.06	0.68205	.	0.000000	0.40144	N	0.001162	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	-7.8395	18.0114	0.89225	0.0:1.0:0.0:0.0	.	.	.	.	X	696	.	ENSP00000407720:Q696X	Q	+	1	0	CDK12	34900490	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.476000	0.45171	2.369000	0.80426	0.591000	0.81541	CAA		0.448	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		14	22	0	0	0	1	0	14	22				
ATR	545	broad.mit.edu	37	3	142272702	142272702	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr3:142272702C>A	ENST00000350721.4	-	11	2618	c.2497G>T	c.(2497-2499)Gaa>Taa	p.E833*	ATR_ENST00000383101.3_Nonsense_Mutation_p.E769*	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	833					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						TCCAAGGATTCCAATATGTGC	0.313								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.(2497-2499)Gaa>Taa	Other conserved DNA damage response genes	ataxia telangiectasia and Rad3 related							72.0	74.0	73.0					3																	142272702		2202	4298	6500	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.chr3:142272702C>A	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.2497G>T	3.37:g.142272702C>A	ENSP00000343741:p.Glu833*					ATR_ENST00000383101.3_Nonsense_Mutation_p.E769*	p.E833*	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN			11	2618	-			833					Q59HB2|Q7KYL3|Q93051|Q9BXK4	Nonsense_Mutation	SNP	ENST00000350721.4	37	c.2497G>T	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	C	40	8.031629	0.98619	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	.	.	.	5.34	5.34	0.76211	.	0.530181	0.21044	N	0.081101	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	-5.4949	12.4058	0.55439	0.0:0.9227:0.0:0.0773	.	.	.	.	X	833;769	.	ENSP00000343741:E833X	E	-	1	0	ATR	143755392	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.227000	0.51262	2.506000	0.84524	0.585000	0.79938	GAA		0.313	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		7	33	1	0	0.307466	1	0.307466	7	33				
HSPA8	3312	broad.mit.edu	37	11	122931348	122931348	+	Missense_Mutation	SNP	T	T	C			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr11:122931348T>C	ENST00000532636.1	-	3	483	c.364A>G	c.(364-366)Atg>Gtg	p.M122V	HSPA8_ENST00000533540.1_Intron|HSPA8_ENST00000534319.1_5'Flank|SNORD14E_ENST00000364009.1_RNA|HSPA8_ENST00000453788.2_Missense_Mutation_p.M122V|SNORD14C_ENST00000365382.1_RNA|HSPA8_ENST00000526862.1_5'Flank|HSPA8_ENST00000534624.1_Missense_Mutation_p.M122V|HSPA8_ENST00000526110.1_Missense_Mutation_p.M122V|SNORD14D_ENST00000384390.1_RNA|HSPA8_ENST00000227378.3_Missense_Mutation_p.M122V			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	122					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone mediated protein folding requiring cofactor (GO:0051085)|clathrin coat disassembly (GO:0072318)|gene expression (GO:0010467)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|negative regulation of fibril organization (GO:1902904)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein refolding (GO:0042026)|regulation of cell cycle (GO:0051726)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	blood microparticle (GO:0072562)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Prp19 complex (GO:0000974)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		GTCAGAACCATAGAAGACACC	0.473																																					Colon(21;486 594 5900 6733 14272)	ENST00000534624.1																			0				breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36						c.(364-366)Atg>Gtg		heat shock 70kDa protein 8							96.0	97.0	97.0					11																	122931348		2202	4299	6501	SO:0001583	missense	3312				cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding	g.chr11:122931348T>C	Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"""Heat shock proteins / HSP70"""	5241	protein-coding gene	gene with protein product		600816	"""heat shock 70kD protein 8"""	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.364A>G	11.37:g.122931348T>C	ENSP00000437125:p.Met122Val					HSPA8_ENST00000453788.2_Missense_Mutation_p.M122V|HSPA8_ENST00000227378.3_Missense_Mutation_p.M122V|HSPA8_ENST00000526110.1_Missense_Mutation_p.M122V|HSPA8_ENST00000532636.1_Missense_Mutation_p.M122V|HSPA8_ENST00000533540.1_Intron	p.M122V	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	3	640	-		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	122					Q9H3R6	Missense_Mutation	SNP	ENST00000532636.1	37	c.364A>G	CCDS8440.1	.	.	.	.	.	.	.	.	.	.	T	16.61	3.170253	0.57584	.	.	ENSG00000109971	ENST00000532636;ENST00000534624;ENST00000453788;ENST00000227378;ENST00000526110;ENST00000528292;ENST00000525463;ENST00000525624;ENST00000534567;ENST00000527387;ENST00000532182;ENST00000524590;ENST00000530391	T;T;T;T;T;T;T;T;T;T;T;T;T	0.04119	3.7;3.7;3.7;3.7;3.7;3.7;3.7;3.7;3.7;3.7;3.7;3.7;3.7	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.18341	0.0440	H	0.96015	3.755	0.80722	D	1	B;B;B;B	0.18461	0.002;0.001;0.0;0.028	B;B;B;B	0.27796	0.012;0.001;0.001;0.083	T	0.07233	-1.0783	10	0.87932	D	0	-29.9929	14.7676	0.69651	0.0:0.0:0.0:1.0	.	122;122;122;122	B4DTX2;E7ET08;P11142-2;P11142	.;.;.;HSP7C_HUMAN	V	122;122;122;122;122;62;81;122;122;122;122;122;122	ENSP00000437125:M122V;ENSP00000432083:M122V;ENSP00000404372:M122V;ENSP00000227378:M122V;ENSP00000433584:M122V;ENSP00000432884:M62V;ENSP00000436762:M81V;ENSP00000435154:M122V;ENSP00000431641:M122V;ENSP00000436183:M122V;ENSP00000434415:M122V;ENSP00000434565:M122V;ENSP00000434851:M122V	ENSP00000227378:M122V	M	-	1	0	HSPA8	122436558	1.000000	0.71417	0.927000	0.36925	0.936000	0.57629	8.038000	0.88943	1.937000	0.56155	0.402000	0.26972	ATG		0.473	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387515.1			13	66	0	0	0	1	0	13	66				
ROR2	4920	broad.mit.edu	37	9	94486381	94486381	+	Missense_Mutation	SNP	G	G	C	rs141235720	byFrequency	TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr9:94486381G>C	ENST00000375708.3	-	9	2593	c.2395C>G	c.(2395-2397)Ccc>Gcc	p.P799A	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Intron	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	799	Pro-rich.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)	p.P799S(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						ATGAACTGGGGCTGTGGGAAG	0.672																																						ENST00000375708.3																			1	Substitution - Missense(1)	p.P799S(1)	lung(1)	autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(2395-2397)Ccc>Gcc		receptor tyrosine kinase-like orphan receptor 2							48.0	55.0	52.0					9																	94486381		2203	4300	6503	SO:0001583	missense	4920				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr9:94486381G>C	M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"""Immunoglobulin superfamily / I-set domain containing"""	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.2395C>G	9.37:g.94486381G>C	ENSP00000364860:p.Pro799Ala					ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Intron	p.P799A	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN			9	2593	-			799			Pro-rich.		Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Missense_Mutation	SNP	ENST00000375708.3	37	c.2395C>G	CCDS6691.1	.	.	.	.	.	.	.	.	.	.	G	9.682	1.149482	0.21288	.	.	ENSG00000169071	ENST00000375708	T	0.77489	-1.1	4.65	4.65	0.58169	.	0.000000	0.41938	D	0.000788	T	0.80919	0.4716	L	0.27053	0.805	0.53688	D	0.999972	D	0.76494	0.999	D	0.80764	0.994	T	0.78703	-0.2101	10	0.27082	T	0.32	.	17.7513	0.88435	0.0:0.0:1.0:0.0	.	799	Q01974	ROR2_HUMAN	A	799	ENSP00000364860:P799A	ENSP00000364860:P799A	P	-	1	0	ROR2	93526202	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	4.347000	0.59373	2.415000	0.81967	0.561000	0.74099	CCC		0.672	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053040.1			20	32	0	0	0	1	0	20	32				
SZT2	23334	broad.mit.edu	37	1	43909116	43909116	+	Missense_Mutation	SNP	C	C	T	rs146439294		TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr1:43909116C>T	ENST00000562955.1	+	60	8422	c.8422C>T	c.(8422-8424)Ccc>Tcc	p.P2808S	SZT2_ENST00000372442.1_Missense_Mutation_p.P1966S	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2865					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GCTGCATGGGCCCCCAGAGAC	0.627																																						ENST00000562955.1																			0				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						c.(8422-8424)Ccc>Tcc		seizure threshold 2 homolog (mouse)		C	SER/PRO	1,4405	2.1+/-5.4	0,1,2202	39.0	41.0	40.0		8422	3.4	1.0	1	dbSNP_134	40	0,8600		0,0,4300	no	missense	SZT2	NM_015284.3	74	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	2808/3376	43909116	1,13005	2203	4300	6503	SO:0001583	missense	23334					peroxisome		g.chr1:43909116C>T	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.8422C>T	1.37:g.43909116C>T	ENSP00000457168:p.Pro2808Ser					SZT2_ENST00000372442.1_Missense_Mutation_p.P1966S	p.P2808S	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN			60	8422	+			2865					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	c.8422C>T	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	C	12.23	1.874376	0.33069	2.27E-4	0.0	ENSG00000198198	ENST00000372442	.	.	.	5.4	3.42	0.39159	.	0.295627	0.35677	N	0.003046	T	0.07999	0.0200	N	0.00729	-1.24	0.22835	N	0.998677	B	0.19331	0.035	B	0.16289	0.015	T	0.28554	-1.0040	9	0.20519	T	0.43	.	7.1872	0.25806	0.1719:0.7356:0.0:0.0924	.	2808	Q5T011-5	.	S	1966	.	ENSP00000361519:P1966S	P	+	1	0	SZT2	43681703	0.003000	0.15002	1.000000	0.80357	0.940000	0.58332	-0.025000	0.12413	2.518000	0.84900	0.655000	0.94253	CCC		0.627	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		14	14	0	0	0	1	0	14	14				
GAK	2580	broad.mit.edu	37	4	887225	887225	+	Silent	SNP	C	C	T			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr4:887225C>T	ENST00000314167.4	-	9	1040	c.930G>A	c.(928-930)gtG>gtA	p.V310V	GAK_ENST00000511163.1_Silent_p.V231V	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	310	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		GCAGCTGGTGCACCACCTCGG	0.687																																						ENST00000314167.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39						c.(928-930)gtG>gtA		cyclin G associated kinase							32.0	33.0	33.0					4																	887225		2200	4297	6497	SO:0001819	synonymous_variant	2580				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	g.chr4:887225C>T	D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"""Heat shock proteins / DNAJ (HSP40)"""	4113	protein-coding gene	gene with protein product	"""auxilin-2"""	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.930G>A	4.37:g.887225C>T						GAK_ENST00000511163.1_Silent_p.V231V	p.V310V	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN		Colorectal(103;0.219)	9	1040	-			310			Protein kinase.		Q5U4P5|Q9BVY6	Silent	SNP	ENST00000314167.4	37	c.930G>A	CCDS3340.1																																																																																				0.687	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	NM_005255		6	40	0	0	0	1	0	6	40				
GPR125	166647	broad.mit.edu	37	4	22389682	22389682	+	Silent	SNP	G	G	A	rs146569496		TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr4:22389682G>A	ENST00000334304.5	-	19	3881	c.3612C>T	c.(3610-3612)aaC>aaT	p.N1204N	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	1204					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				TAGGTAAGCCGTTCTGCACGC	0.522													G|||	1	0.000199681	0.0	0.0	5008	,	,		16885	0.001		0.0	False		,,,				2504	0.0					ENST00000334304.5																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56						c.(3610-3612)aaC>aaT		G protein-coupled receptor 125		G		1,4405	2.1+/-5.4	0,1,2202	99.0	91.0	94.0		3612	-4.5	0.9	4	dbSNP_134	94	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GPR125	NM_145290.2		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		1204/1322	22389682	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	166647				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	g.chr4:22389682G>A	AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.3612C>T	4.37:g.22389682G>A						GPR125_ENST00000282943.5_5'UTR	p.N1204N	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN			19	3881	-		Breast(46;0.198)	1204					Q6UXK9|Q86SQ5|Q8TC55	Silent	SNP	ENST00000334304.5	37	c.3612C>T	CCDS33964.1																																																																																				0.522	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3			58	85	0	0	0	1	0	58	85				
CCDC136	64753	broad.mit.edu	37	7	128446848	128446848	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr7:128446848G>A	ENST00000297788.4	+	9	1722	c.1355G>A	c.(1354-1356)tGc>tAc	p.C452Y	CCDC136_ENST00000464832.1_Intron|CCDC136_ENST00000487361.1_Missense_Mutation_p.C399Y|CCDC136_ENST00000378685.4_Intron	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	452						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						GAGCTGCAGTGCCATGAGGCA	0.577																																						ENST00000297788.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						c.(1354-1356)tGc>tAc		coiled-coil domain containing 136							25.0	25.0	25.0					7																	128446848		1981	4165	6146	SO:0001583	missense	64753					integral to membrane	protein binding	g.chr7:128446848G>A		CCDS47704.1, CCDS56510.1	7q33	2007-08-01			ENSG00000128596	ENSG00000128596			22225	protein-coding gene	gene with protein product		611902				15112360	Standard	NM_022742		Approved	KIAA1793, NAG6, DKFZP434G156	uc003vnv.2	Q96JN2	OTTHUMG00000158310	ENST00000297788.4:c.1355G>A	7.37:g.128446848G>A	ENSP00000297788:p.Cys452Tyr					CCDC136_ENST00000464832.1_Intron|CCDC136_ENST00000378685.4_Intron|CCDC136_ENST00000487361.1_Missense_Mutation_p.C399Y	p.C452Y	NM_022742.4	NP_073579.4	Q96JN2	CC136_HUMAN			9	1722	+			452					A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	Missense_Mutation	SNP	ENST00000297788.4	37	c.1355G>A	CCDS47704.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.556|0.556	-0.847518|-0.847518	0.02651|0.02651	.|.	.|.	ENSG00000128596|ENSG00000128596	ENST00000494552|ENST00000487361;ENST00000297788;ENST00000397697;ENST00000320524;ENST00000464672	.|T;T;T	.|0.77750	.|-1.12;1.47;1.47	5.54|5.54	-0.659|-0.659	0.11424|0.11424	.|.	.|0.960024	.|0.08676	.|N	.|0.910111	T|T	0.50154|0.50154	0.1599|0.1599	N|N	0.13043|0.13043	0.29|0.29	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.06786	.|0.001;0.0;0.001	.|B;B;B	.|0.08055	.|0.003;0.0;0.003	T|T	0.41215|0.41215	-0.9521|-0.9521	5|10	.|0.02654	.|T	.|1	2.0E-4|2.0E-4	1.2268|1.2268	0.01935|0.01935	0.1822:0.138:0.4445:0.2353|0.1822:0.138:0.4445:0.2353	.|.	.|452;399;452	.|Q96JN2-2;C9JE17;Q96JN2	.|.;.;CC136_HUMAN	T|Y	329|399;452;452;452;43	.|ENSP00000420509:C399Y;ENSP00000297788:C452Y;ENSP00000417991:C43Y	.|ENSP00000297788:C452Y	A|C	+|+	1|2	0|0	CCDC136|CCDC136	128234084|128234084	0.055000|0.055000	0.20627|0.20627	0.087000|0.087000	0.20705|0.20705	0.930000|0.930000	0.56654|0.56654	0.365000|0.365000	0.20348|0.20348	0.184000|0.184000	0.20083|0.20083	0.655000|0.655000	0.94253|0.94253	GCC|TGC		0.577	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350641.1	NM_022742		7	13	0	0	0	1	0	7	13				
DOCK11	139818	broad.mit.edu	37	X	117805041	117805041	+	Missense_Mutation	SNP	G	G	A	rs201193128		TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chrX:117805041G>A	ENST00000276202.7	+	46	5195	c.5132G>A	c.(5131-5133)cGt>cAt	p.R1711H	DOCK11_ENST00000276204.6_Missense_Mutation_p.R1711H	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1711	DHR-2.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						AAGGCAGAACGTTATGAAATA	0.348																																						ENST00000276204.6																			0				breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						c.(5131-5133)cGt>cAt		dedicator of cytokinesis 11		G	HIS/ARG	0,3835		0,0,1632,571	125.0	111.0	116.0		5132	5.2	1.0	X		116	4,6724		0,4,2424,1872	no	missense	DOCK11	NM_144658.3	29	0,4,4056,2443	AA,AG,GG,G		0.0595,0.0,0.0379	probably-damaging	1711/2074	117805041	4,10559	2203	4300	6503	SO:0001583	missense	139818				blood coagulation	cytosol	GTP binding	g.chrX:117805041G>A	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.5132G>A	X.37:g.117805041G>A	ENSP00000276202:p.Arg1711His					DOCK11_ENST00000276202.7_Missense_Mutation_p.R1711H	p.R1711H			Q5JSL3	DOC11_HUMAN			46	5206	+			1711			DHR-2.		A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	ENST00000276202.7	37	c.5132G>A	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.545258	0.86022	0.0	5.95E-4	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.19250	2.16;2.16	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.51210	0.1661	M	0.88241	2.94	0.58432	D	0.99999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.58205	-0.7677	10	0.59425	D	0.04	-13.0903	12.153	0.54059	0.0:0.0:0.8294:0.1706	.	1711;1711	A6NIW2;Q5JSL3	.;DOC11_HUMAN	H	1711	ENSP00000276204:R1711H;ENSP00000276202:R1711H	ENSP00000276202:R1711H	R	+	2	0	DOCK11	117689069	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.464000	0.97655	2.309000	0.77851	0.594000	0.82650	CGT		0.348	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		24	14	0	0	0	1	0	24	14				
CEACAM7	1087	broad.mit.edu	37	19	42187837	42187837	+	Silent	SNP	G	G	A			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr19:42187837G>A	ENST00000006724.3	-	3	786	c.585C>T	c.(583-585)tcC>tcT	p.S195S	CEACAM7_ENST00000599715.1_5'Flank|CEACAM7_ENST00000602225.1_Intron|CEACAM7_ENST00000401731.1_Silent_p.S195S|CEACAM7_ENST00000338196.4_Intron	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	195	Ig-like C2-type.					anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		TGTTGTCAGTGGAGAGCAGCA	0.512																																						ENST00000006724.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						c.(583-585)tcC>tcT		carcinoembryonic antigen-related cell adhesion molecule 7							167.0	157.0	160.0					19																	42187837		2203	4300	6503	SO:0001819	synonymous_variant	1087					anchored to membrane|integral to membrane|plasma membrane		g.chr19:42187837G>A	X98311	CCDS12583.1	19q13.2	2013-01-29			ENSG00000007306	ENSG00000007306		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1819	protein-coding gene	gene with protein product	"""carcinoembryonic antigen gene family member 2"""			CGM2		7806520, 9135022	Standard	XM_005278379		Approved	CEA	uc002ori.1	Q14002	OTTHUMG00000151063	ENST00000006724.3:c.585C>T	19.37:g.42187837G>A						CEACAM7_ENST00000401731.1_Silent_p.S195S|CEACAM7_ENST00000338196.4_Intron|CEACAM7_ENST00000602225.1_Intron	p.S195S	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)	3	786	-			195			Ig-like C2-type.		A8K848|O15148|O15149|Q0VAC1|Q13983|Q9UPJ2	Silent	SNP	ENST00000006724.3	37	c.585C>T	CCDS12583.1																																																																																				0.512	CEACAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321145.1	NM_006890		41	76	0	0	0	1	0	41	76				
MOG	4340	broad.mit.edu	37	6	29640720	29640720	+	IGR	SNP	A	A	G			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr6:29640720A>G	ENST00000376917.3	+	0	2160				ZFP57_ENST00000488757.1_Missense_Mutation_p.S390P|ZFP57_ENST00000376881.3_Missense_Mutation_p.S370P|ZFP57_ENST00000376883.1_Missense_Mutation_p.S370P	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein						cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						AAAGTCAAAGAACAATGGGGG	0.517																																						ENST00000376883.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						c.(1108-1110)Tct>Cct		ZFP57 zinc finger protein							321.0	347.0	338.0					6																	29640720		1261	2557	3818	SO:0001628	intergenic_variant	346171				DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding	g.chr6:29640720A>G		CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099		6.37:g.29640720A>G						ZFP57_ENST00000376881.3_Missense_Mutation_p.S370P|ZFP57_ENST00000488757.1_Missense_Mutation_p.S390P	p.S370P			Q9NU63	ZFP57_HUMAN			6	1519	-			306					A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Missense_Mutation	SNP	ENST00000376917.3	37	c.1108T>C	CCDS34370.1	.	.	.	.	.	.	.	.	.	.	G	0.470	-0.884877	0.02511	.	.	ENSG00000204644	ENST00000488757;ENST00000376881;ENST00000376883	T;T;T	0.76448	-1.02;-1.02;-1.02	3.95	2.14	0.27477	.	0.564757	0.14916	N	0.290924	T	0.24122	0.0584	N	0.02111	-0.68	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.21724	-1.0237	10	0.44086	T	0.13	-1.92	1.3106	0.02097	0.1967:0.1719:0.4545:0.1769	.	390;370	Q9NU63-3;Q9NU63-2	.;.	P	390;370;370	ENSP00000418259:S390P;ENSP00000366078:S370P;ENSP00000366080:S370P	ENSP00000366078:S370P	S	-	1	0	ZFP57	29748699	0.000000	0.05858	0.003000	0.11579	0.042000	0.13812	-0.048000	0.11944	0.249000	0.21456	-0.213000	0.12676	TCT		0.517	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3	NM_002433		90	171	0	0	0	1	0	90	171				
HTT	3064	broad.mit.edu	37	4	3134559	3134559	+	Missense_Mutation	SNP	C	C	T	rs140979048	byFrequency	TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr4:3134559C>T	ENST00000355072.5	+	18	2559	c.2414C>T	c.(2413-2415)gCg>gTg	p.A805V		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	805					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TTTTCTTTGGCGGATTGCATT	0.383													C|||	2	0.000399361	0.0008	0.0	5008	,	,		21808	0.001		0.0	False		,,,				2504	0.0					ENST00000355072.5																			0				breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87						c.(2413-2415)gCg>gTg		huntingtin							282.0	246.0	257.0					4																	3134559		1920	4137	6057	SO:0001583	missense	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3134559C>T	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.2414C>T	4.37:g.3134559C>T	ENSP00000347184:p.Ala805Val						p.A805V	NM_002111.6	NP_002102.4	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	18	2559	+		all_epithelial(65;0.18)	805					Q9UQB7	Missense_Mutation	SNP	ENST00000355072.5	37	c.2414C>T	CCDS43206.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	11.41	1.631534	0.29068	.	.	ENSG00000197386	ENST00000355072	T	0.65549	-0.16	4.88	-3.95	0.04118	Armadillo-like helical (1);Armadillo-type fold (1);	0.871262	0.10314	N	0.689612	T	0.24928	0.0605	N	0.01267	-0.92	0.09310	N	0.999993	B	0.06786	0.001	B	0.04013	0.001	T	0.16041	-1.0416	10	0.27082	T	0.32	.	4.7139	0.12886	0.1157:0.1334:0.1154:0.6355	.	805	P42858	HD_HUMAN	V	805	ENSP00000347184:A805V	ENSP00000347184:A805V	A	+	2	0	HTT	3104357	0.752000	0.28338	0.738000	0.30950	0.821000	0.46438	-0.207000	0.09384	-0.729000	0.04875	-0.182000	0.12963	GCG		0.383	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		69	88	0	0	0	1	0	69	88				
PPP2R5C	5527	broad.mit.edu	37	14	102391492	102391492	+	Silent	SNP	G	G	A			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr14:102391492G>A	ENST00000334743.5	+	14	1506	c.1458G>A	c.(1456-1458)ccG>ccA	p.P486P	PPP2R5C_ENST00000350249.3_Silent_p.P447P|PPP2R5C_ENST00000328724.5_Silent_p.P502P|PPP2R5C_ENST00000422945.2_Silent_p.P517P	NM_002719.3	NP_002710.2	Q13362	2A5G_HUMAN	protein phosphatase 2, regulatory subunit B', gamma	486					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of cell proliferation (GO:0008285)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	chromosome, centromeric region (GO:0000775)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						AGAAAGATCCGAAGAAGGACC	0.522																																						ENST00000422945.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(1549-1551)ccG>ccA		protein phosphatase 2, regulatory subunit B', gamma							161.0	175.0	170.0					14																	102391492		2203	4300	6503	SO:0001819	synonymous_variant	5527				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction	chromosome, centromeric region|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr14:102391492G>A	L42375	CCDS9964.1, CCDS9965.1, CCDS45163.1, CCDS53911.1, CCDS53912.1	14q32.31	2010-06-18	2010-04-14		ENSG00000078304	ENSG00000078304		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9311	protein-coding gene	gene with protein product		601645	"""protein phosphatase 2, regulatory subunit B (B56), gamma isoform"", ""protein phosphatase 2, regulatory subunit B', gamma isoform"""			7592815	Standard	NM_002719		Approved	B56G, PR61G	uc001ykk.3	Q13362		ENST00000334743.5:c.1458G>A	14.37:g.102391492G>A						PPP2R5C_ENST00000350249.3_Silent_p.P447P|PPP2R5C_ENST00000334743.5_Silent_p.P486P|PPP2R5C_ENST00000328724.5_Silent_p.P502P	p.P517P	NM_001161725.1	NP_001155197.1	Q13362	2A5G_HUMAN			16	1647	+			486					B4DYJ8|B5BUA5|F5GWP3|Q14391|Q15060|Q15174|Q6ZN33	Silent	SNP	ENST00000334743.5	37	c.1551G>A	CCDS9964.1																																																																																				0.522	PPP2R5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414373.2	NM_002719		32	135	0	0	0	1	0	32	135				
IFNA17	3451	broad.mit.edu	37	9	21228107	21228107	+	Silent	SNP	T	T	C	rs530261263	byFrequency	TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr9:21228107T>C	ENST00000413767.2	-	1	114	c.66A>G	c.(64-66)ctA>ctG	p.L22L		NM_021268.2	NP_067091.1	P01571	IFN17_HUMAN	interferon, alpha 17	22					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			breast(1)|endometrium(2)|lung(4)|ovary(1)|skin(1)	9				Lung(24;2.13e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		GATCACAGCCTAGAGAACAGA	0.502													t|||	3	0.000599042	0.0	0.0	5008	,	,		20078	0.001		0.001	False		,,,				2504	0.001					ENST00000413767.2																			0				breast(1)|endometrium(2)|lung(4)|ovary(1)|skin(1)	9						c.(64-66)ctA>ctG		interferon, alpha 17							72.0	73.0	72.0					9																	21228107		2202	4282	6484	SO:0001819	synonymous_variant	3451				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	g.chr9:21228107T>C		CCDS6500.1	9p22	2010-12-10			ENSG00000234829	ENSG00000234829		"""Interferons"""	5422	protein-coding gene	gene with protein product		147583				1385305	Standard	NM_021268		Approved	LEIF2C1, IFN-alphaI	uc003zos.1	P01571	OTTHUMG00000019667	ENST00000413767.2:c.66A>G	9.37:g.21228107T>C							p.L22L	NM_021268.2	NP_067091.1	P01571	IFN17_HUMAN		Lung(24;2.13e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)	1	114	-			22					Q14639|Q4KMT4|Q5VZ53|Q7M4Q4	Silent	SNP	ENST00000413767.2	37	c.66A>G	CCDS6500.1																																																																																				0.502	IFNA17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051896.1	NM_021268		4	92	0	0	0	1	0	4	92				
MKL1	57591	broad.mit.edu	37	22	40803533	40803533	+	IGR	SNP	C	C	T	rs368931720		TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr22:40803533C>T	ENST00000355630.3	-	0	4496				SGSM3_ENST00000454798.2_Silent_p.D428D|SGSM3_ENST00000248929.9_Silent_p.D495D	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1						negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						AGCGGCACGACGACGACGAGC	0.657			T	RBM15	acute megakaryocytic leukemia																																	ENST00000248929.9				Dom	yes		22	22q13	57591		megakaryoblastic leukemia (translocation) 1			L					0				cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						c.(1483-1485)gaC>gaT		small G protein signaling modulator 3		C		0,4406		0,0,2203	37.0	33.0	34.0		1485	-6.2	0.1	22		34	1,8599		0,1,4299	no	coding-synonymous	SGSM3	NM_015705.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		495/750	40803533	1,13005	2203	4300	6503	SO:0001628	intergenic_variant	27352				cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding	g.chr22:40803533C>T	AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"""megakaryocytic acute leukemia"", ""myocardin-related transcription factor A"", ""basic, SAP and coiled-coil domain"""	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146		22.37:g.40803533C>T						SGSM3_ENST00000454798.2_Silent_p.D428D	p.D495D	NM_015705.4	NP_056520.2	Q96HU1	SGSM3_HUMAN			13	1674	+			495			SH3.		Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Silent	SNP	ENST00000355630.3	37	c.1485C>T	CCDS14003.1																																																																																				0.657	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		3	30	0	0	0	1	0	3	30				
DOCK6	57572	broad.mit.edu	37	19	11323863	11323863	+	Missense_Mutation	SNP	C	C	T	rs568049240		TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr19:11323863C>T	ENST00000294618.7	-	35	4491	c.4480G>A	c.(4480-4482)Gag>Aag	p.E1494K	CTC-510F12.2_ENST00000588634.1_RNA|DOCK6_ENST00000319867.7_Missense_Mutation_p.E833K	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1494					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						TGGCCGATCTCGAAGTTCTGT	0.642																																						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.(4480-4482)Gag>Aag		dedicator of cytokinesis 6							51.0	56.0	54.0					19																	11323863		2184	4286	6470	SO:0001583	missense	57572				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr19:11323863C>T		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.4480G>A	19.37:g.11323863C>T	ENSP00000294618:p.Glu1494Lys					DOCK6_ENST00000319867.7_Missense_Mutation_p.E833K|CTC-510F12.2_ENST00000588634.1_RNA	p.E1494K	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN			35	4491	-			1494			DHR-2.		A6H8X5|Q7Z7P4|Q9P2F2	Missense_Mutation	SNP	ENST00000294618.7	37	c.4480G>A	CCDS45975.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.584017	0.86748	.	.	ENSG00000130158	ENST00000294618;ENST00000319867	T;T	0.01902	4.57;4.57	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.08044	0.0201	M	0.79805	2.47	0.80722	D	1	P;P	0.52463	0.953;0.807	P;B	0.47744	0.556;0.265	T	0.02966	-1.1088	10	0.62326	D	0.03	-28.9554	17.1473	0.86769	0.0:1.0:0.0:0.0	.	833;1494	C9IZV6;Q96HP0	.;DOCK6_HUMAN	K	1494;833	ENSP00000294618:E1494K;ENSP00000321556:E833K	ENSP00000294618:E1494K	E	-	1	0	DOCK6	11184863	1.000000	0.71417	1.000000	0.80357	0.445000	0.32107	7.689000	0.84165	2.350000	0.79820	0.650000	0.86243	GAG		0.642	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453155.1	NM_020812		8	29	0	0	0	1	0	8	29				
FPR1	2357	broad.mit.edu	37	19	52249967	52249967	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr19:52249967C>T	ENST00000595042.1	-	3	422	c.281G>A	c.(280-282)gGc>gAc	p.G94D	FPR1_ENST00000304748.4_Missense_Mutation_p.G94D	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	94					activation of MAPK activity (GO:0000187)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|nitric oxide mediated signal transduction (GO:0007263)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)|receptor activity (GO:0004872)			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	CAGGAACCAGCCGAAAGGCCA	0.517																																						ENST00000595042.1																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20						c.(280-282)gGc>gAc		formyl peptide receptor 1	Nedocromil(DB00716)						139.0	106.0	117.0					19																	52249967		2203	4300	6503	SO:0001583	missense	2357				activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52249967C>T	M60627	CCDS12839.1	19q13.41	2014-09-17				ENSG00000171051		"""GPCR / Class A : Formyl peptide receptors"""	3826	protein-coding gene	gene with protein product		136537				2161213, 12595898	Standard	NM_001193306		Approved	FPR, FMLP	uc002pxq.3	P21462		ENST00000595042.1:c.281G>A	19.37:g.52249967C>T	ENSP00000471493:p.Gly94Asp					FPR1_ENST00000304748.4_Missense_Mutation_p.G94D	p.G94D	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	3	422	-		all_neural(266;0.0189)|Medulloblastoma(540;0.146)	94					Q14939|Q7Z6A4|Q86U52|Q9NS48	Missense_Mutation	SNP	ENST00000595042.1	37	c.281G>A	CCDS12839.1	.	.	.	.	.	.	.	.	.	.	.	15.95	2.984775	0.53934	.	.	ENSG00000171051	ENST00000304748	T	0.49720	0.77	3.66	3.66	0.41972	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	T	0.75627	0.3875	H	0.94771	3.58	0.51012	D	0.999903	D	0.89917	1.0	D	0.91635	0.999	D	0.83443	0.0044	10	0.87932	D	0	.	13.6424	0.62260	0.0:1.0:0.0:0.0	.	94	P21462	FPR1_HUMAN	D	94	ENSP00000302707:G94D	ENSP00000302707:G94D	G	-	2	0	FPR1	56941779	1.000000	0.71417	0.916000	0.36221	0.075000	0.17131	7.043000	0.76572	1.960000	0.56953	0.655000	0.94253	GGC		0.517	FPR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466905.1	NM_002029		21	33	0	0	0	1	0	21	33				
NBPF1	55672	broad.mit.edu	37	1	16893709	16893709	+	Missense_Mutation	SNP	T	T	C			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr1:16893709T>C	ENST00000430580.2	-	25	3691	c.2804A>G	c.(2803-2805)gAg>gGg	p.E935G	NBPF1_ENST00000432949.1_3'UTR|NBPF1_ENST00000420031.2_3'UTR	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	935	NBPF 5. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		ACGCTGTTGCTCCAATATGTA	0.458																																						ENST00000430580.2																			0											c.(2803-2805)gAg>gGg		neuroblastoma breakpoint family, member 1							1122.0	943.0	1004.0					1																	16893709		2203	4300	6503	SO:0001583	missense	55672					cytoplasm		g.chr1:16893709T>C	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.2804A>G	1.37:g.16893709T>C	ENSP00000474456:p.Glu935Gly					NBPF1_ENST00000432949.1_3'UTR|NBPF1_ENST00000420031.2_3'UTR	p.E935G	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	25	3691	-			935			NBPF 5.		Q8N4E8|Q9C0H0	Missense_Mutation	SNP	ENST00000430580.2	37	c.2804A>G																																																																																					0.458	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		28	2448	0	0	0	1	0	28	2448				
LOC220729	220729	broad.mit.edu	37	3	197348739	197348739	+	RNA	SNP	G	G	C	rs371325185	byFrequency	TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr3:197348739G>C	ENST00000418868.1	-	0	520					NR_003266.2																						TAATTTTCTAGCTGTGAAAGA	0.398													g|||	29	0.00579073	0.0008	0.0072	5008	,	,		22210	0.002		0.0109	False		,,,				2504	0.0102					ENST00000418868.1																			0																																																			0							g.chr3:197348739G>C																													3.37:g.197348739G>C								NR_003266.2						0	520	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.398	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			4	86	0	0	0	1	0	4	86				
ZNF492	57615	broad.mit.edu	37	19	22846975	22846975	+	Silent	SNP	C	C	A			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr19:22846975C>A	ENST00000456783.2	+	4	748	c.504C>A	c.(502-504)ccC>ccA	p.P168P	CTC-457E21.9_ENST00000601860.1_RNA	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	168					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(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				GAGAGAAACCCTACAAATGTA	0.338																																						ENST00000456783.2																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(502-504)ccC>ccA		zinc finger protein 492							19.0	25.0	23.0					19																	22846975		2009	4223	6232	SO:0001819	synonymous_variant	57615				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22846975C>A	AB040906	CCDS46032.1	19p13.11	2013-01-08				ENSG00000229676		"""Zinc fingers, C2H2-type"""	23707	protein-coding gene	gene with protein product			"""zinc finger protein 115 (Y20)"""	ZNF115		10819331	Standard	NM_020855		Approved	KIAA1473	uc002nqw.3	Q9P255		ENST00000456783.2:c.504C>A	19.37:g.22846975C>A							p.P168P	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN			4	748	+		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)	168					Q08EI7|Q08EI8	Silent	SNP	ENST00000456783.2	37	c.504C>A	CCDS46032.1																																																																																				0.338	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464581.1	NM_020855		4	12	1	0	0.014758	1	0.0151094	4	12				
GRIA1	2890	broad.mit.edu	37	5	152870478	152870478	+	Silent	SNP	C	C	T			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr5:152870478C>T	ENST00000285900.5	+	1	373	c.30C>T	c.(28-30)acC>acT	p.T10T	GRIA1_ENST00000340592.5_Silent_p.T10T|GRIA1_ENST00000518862.1_Intron|GRIA1_ENST00000518783.1_5'Flank|GRIA1_ENST00000521843.2_5'Flank|GRIA1_ENST00000518142.1_Silent_p.T10T|GRIA1_ENST00000448073.4_5'Flank	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	10					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	TCTTCTGCACCGGTTTCCTAG	0.527																																						ENST00000285900.5																			0				NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81						c.(28-30)acC>acT		glutamate receptor, ionotropic, AMPA 1	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						236.0	236.0	236.0					5																	152870478		2203	4300	6503	SO:0001819	synonymous_variant	0				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:152870478C>T		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.30C>T	5.37:g.152870478C>T						GRIA1_ENST00000518862.1_Intron|GRIA1_ENST00000518142.1_Silent_p.T10T|GRIA1_ENST00000340592.5_Silent_p.T10T	p.T10T	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		1	373	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	10					B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Silent	SNP	ENST00000285900.5	37	c.30C>T	CCDS4322.1																																																																																				0.527	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			4	280	0	0	0	1	0	4	280				
METTL9	51108	broad.mit.edu	37	16	21629323	21629323	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr16:21629323C>T	ENST00000358154.3	+	3	752	c.494C>T	c.(493-495)cCt>cTt	p.P165L	METTL9_ENST00000396014.4_Missense_Mutation_p.P165L	NM_001077180.1|NM_016025.3	NP_001070648.1|NP_057109.3	Q9H1A3	METL9_HUMAN	methyltransferase like 9	165								p.P165H(1)		endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)	7				GBM - Glioblastoma multiforme(48;0.0759)		ATCATGAGCCCTCATTTTGAA	0.368																																						ENST00000358154.3																			1	Substitution - Missense(1)	p.P165H(1)	lung(1)	endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)	7						c.(493-495)cCt>cTt		methyltransferase like 9							100.0	100.0	100.0					16																	21629323		2199	4300	6499	SO:0001583	missense	51108							g.chr16:21629323C>T	NM_016025, AF151839	CCDS10598.2, CCDS45440.1	16p12.2	2008-11-06			ENSG00000197006	ENSG00000197006			24586	protein-coding gene	gene with protein product	"""DORA reverse strand protein 1"""	609388				10810093, 11132146	Standard	NM_001077180		Approved	DREV1	uc002dje.3	Q9H1A3	OTTHUMG00000131584	ENST00000358154.3:c.494C>T	16.37:g.21629323C>T	ENSP00000350874:p.Pro165Leu					METTL9_ENST00000396014.4_Missense_Mutation_p.P165L	p.P165L	NM_001077180.1|NM_016025.3	NP_001070648.1|NP_057109.3	Q9H1A3	METL9_HUMAN		GBM - Glioblastoma multiforme(48;0.0759)	3	752	+			165					Q8NBT8|Q9BWJ7|Q9H1A2|Q9Y390	Missense_Mutation	SNP	ENST00000358154.3	37	c.494C>T	CCDS10598.2	.	.	.	.	.	.	.	.	.	.	C	17.35	3.368390	0.61513	.	.	ENSG00000197006	ENST00000358154;ENST00000396014;ENST00000540294	.	.	.	6.17	6.17	0.99709	.	0.208164	0.52532	D	0.000079	T	0.66297	0.2775	M	0.74467	2.265	0.80722	D	1	B;B	0.33171	0.4;0.166	B;B	0.33620	0.167;0.038	T	0.65899	-0.6056	9	0.51188	T	0.08	-10.8966	18.3732	0.90420	0.0:1.0:0.0:0.0	.	165;165	Q9H1A3-2;Q9H1A3	.;METL9_HUMAN	L	165;165;129	.	ENSP00000350874:P165L	P	+	2	0	METTL9	21536824	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.729000	0.54999	2.941000	0.99782	0.655000	0.94253	CCT		0.368	METTL9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254465.1	NM_016025		31	98	0	0	0	1	0	31	98				
SATB2	23314	broad.mit.edu	37	2	200137089	200137089	+	Missense_Mutation	SNP	C	C	T	rs372032415		TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr2:200137089C>T	ENST00000417098.1	-	11	2863	c.2047G>A	c.(2047-2049)Gcg>Acg	p.A683T	SATB2_ENST00000457245.1_Missense_Mutation_p.A683T|SATB2_ENST00000260926.5_Missense_Mutation_p.A683T|SATB2_ENST00000443023.1_Missense_Mutation_p.A624T|SATB2_ENST00000428695.1_Missense_Mutation_p.A565T	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	683					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						ACGTCCACCGCGGAGCCCAGG	0.572																																					Colon(30;262 767 11040 24421 36230)	ENST00000443023.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(1870-1872)Gcg>Acg		SATB homeobox 2		C	THR/ALA,THR/ALA,THR/ALA	2,4404	4.2+/-10.8	0,2,2201	144.0	132.0	136.0		2047,2047,2047	5.5	0.1	2		136	0,8600		0,0,4300	no	missense,missense,missense	SATB2	NM_001172509.1,NM_001172517.1,NM_015265.3	58,58,58	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging,possibly-damaging,possibly-damaging	683/734,683/734,683/734	200137089	2,13004	2203	4300	6503	SO:0001583	missense	23314					cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity	g.chr2:200137089C>T	AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"""Homeoboxes / CUT class"""	21637	protein-coding gene	gene with protein product		608148	"""SATB family member 2"""				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.2047G>A	2.37:g.200137089C>T	ENSP00000401112:p.Ala683Thr					SATB2_ENST00000457245.1_Missense_Mutation_p.A683T|SATB2_ENST00000260926.5_Missense_Mutation_p.A683T|SATB2_ENST00000417098.1_Missense_Mutation_p.A683T|SATB2_ENST00000428695.1_Missense_Mutation_p.A565T	p.A624T			Q9UPW6	SATB2_HUMAN			10	3335	-			683					A8K5Z8|Q3ZB87|Q4V763	Missense_Mutation	SNP	ENST00000417098.1	37	c.1870G>A	CCDS2327.1	.	.	.	.	.	.	.	.	.	.	C	14.17	2.455982	0.43634	4.54E-4	0.0	ENSG00000119042	ENST00000417098;ENST00000443023;ENST00000260926;ENST00000428695;ENST00000457245	T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96	5.5	5.5	0.81552	.	0.124358	0.53938	D	0.000048	T	0.23572	0.0570	N	0.08118	0	0.42572	D	0.993189	P;P	0.35011	0.476;0.48	B;B	0.22753	0.019;0.041	T	0.07578	-1.0765	10	0.25751	T	0.34	-11.0282	19.762	0.96323	0.0:1.0:0.0:0.0	.	565;683	Q3ZB87;Q9UPW6	.;SATB2_HUMAN	T	683;624;683;565;683	ENSP00000401112:A683T;ENSP00000388764:A624T;ENSP00000260926:A683T;ENSP00000388581:A565T;ENSP00000405420:A683T	ENSP00000260926:A683T	A	-	1	0	SATB2	199845334	1.000000	0.71417	0.147000	0.22382	0.222000	0.24845	5.910000	0.69931	2.741000	0.93983	0.650000	0.86243	GCG		0.572	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256140.1	NM_015265		23	66	0	0	0	1	0	23	66				
CC2D2A	57545	broad.mit.edu	37	4	15564984	15564984	+	Silent	SNP	G	G	A			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr4:15564984G>A	ENST00000503292.1	+	25	3201	c.3021G>A	c.(3019-3021)ttG>ttA	p.L1007L	CC2D2A_ENST00000389652.5_Silent_p.L958L|CC2D2A_ENST00000413206.1_Silent_p.L1007L|RP11-799M12.2_ENST00000609724.1_RNA|CC2D2A_ENST00000424120.1_Silent_p.L1007L	NM_001080522.2	NP_001073991.2	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	1007					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						TTAGCATTTTGGGCCTAAGCC	0.488																																						ENST00000424120.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						c.(3019-3021)ttG>ttA		coiled-coil and C2 domain containing 2A							55.0	54.0	54.0					4																	15564984		1884	4100	5984	SO:0001819	synonymous_variant	57545				cell projection organization	cilium|microtubule basal body		g.chr4:15564984G>A	AB037766, EU450799	CCDS47026.1, CCDS47027.1, CCDS47027.2, CCDS54744.1	4p15.33	2014-09-17	2007-10-19		ENSG00000048342	ENSG00000048342			29253	protein-coding gene	gene with protein product	"""Meckel syndrome, type 6"""	612013				10718198, 18513680	Standard	NM_001080522		Approved	KIAA1345, MKS6, JBTS9	uc010idv.2	Q9P2K1	OTTHUMG00000160255	ENST00000503292.1:c.3021G>A	4.37:g.15564984G>A						CC2D2A_ENST00000503292.1_Silent_p.L1007L|CC2D2A_ENST00000389652.5_Silent_p.L958L|CC2D2A_ENST00000413206.1_Silent_p.L1007L	p.L1007L			Q9P2K1	C2D2A_HUMAN			24	3275	+			1007					A6ND97|B3FW08|D6RB72|E7EP21|E9PEV5|Q3SYP3|Q9H8A7	Silent	SNP	ENST00000503292.1	37	c.3021G>A	CCDS47026.1																																																																																				0.488	CC2D2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359906.2	NM_001080522		4	6	0	0	0	1	0	4	6				
TAP1	6890	broad.mit.edu	37	6	32815728	32815728	+	Missense_Mutation	SNP	G	G	T			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr6:32815728G>T	ENST00000354258.4	-	8	2049	c.1888C>A	c.(1888-1890)Ccc>Acc	p.P630T	PSMB9_ENST00000395330.1_Intron|TAP1_ENST00000425148.2_Missense_Mutation_p.P369T|TAPSAR1_ENST00000453426.1_lincRNA	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	630	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|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)|cytosol to ER transport (GO:0046967)|defense response (GO:0006952)|intracellular transport of viral protein in host cell (GO:0019060)|peptide transport (GO:0015833)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|TAP complex (GO:0042825)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|MHC class Ib protein binding (GO:0023029)|peptide antigen binding (GO:0042605)|peptide transporter activity (GO:0015197)|protein homodimerization activity (GO:0042803)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21					Lapatinib(DB01259)	TCATATTGGGGAAGGGGCTTC	0.582																																						ENST00000354258.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21						c.(1888-1890)Ccc>Acc		transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)							105.0	106.0	105.0					6																	32815728		1510	2709	4219	SO:0001583	missense	6890				antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	cytosol|plasma membrane|TAP complex	ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding	g.chr6:32815728G>T		CCDS4758.1	6p21.3	2014-09-17			ENSG00000168394	ENSG00000168394		"""ATP binding cassette transporters / subfamily B"""	43	protein-coding gene	gene with protein product		170260		ABCB2		1529427, 1946428	Standard	NM_000593		Approved	PSF1, RING4, D6S114E	uc003ocg.3	Q03518	OTTHUMG00000031067	ENST00000354258.4:c.1888C>A	6.37:g.32815728G>T	ENSP00000346206:p.Pro630Thr					TAP1_ENST00000425148.2_Missense_Mutation_p.P369T|PSMB9_ENST00000395330.1_Intron	p.P630T	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN			8	2049	-			630			ABC transporter.		Q16149|Q96CP4	Missense_Mutation	SNP	ENST00000354258.4	37	c.1888C>A	CCDS4758.1	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.556089	0.00910	.	.	ENSG00000168394	ENST00000354258;ENST00000425148	D;D	0.93133	-3.17;-3.17	5.31	1.1	0.20463	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.842342	0.10197	N	0.703865	T	0.55194	0.1905	N	0.01168	-0.975	0.09310	N	1	B	0.11235	0.004	B	0.17433	0.018	T	0.55717	-0.8097	10	0.13470	T	0.59	-12.4351	1.0155	0.01506	0.282:0.1606:0.4033:0.1542	.	630	Q03518	TAP1_HUMAN	T	630;369	ENSP00000346206:P630T;ENSP00000401919:P369T	ENSP00000346206:P630T	P	-	1	0	TAP1	32923706	0.000000	0.05858	0.031000	0.17742	0.010000	0.07245	-0.198000	0.09505	0.310000	0.22990	-0.366000	0.07423	CCC		0.582	TAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076087.2	NM_000593		22	68	1	0	7.41877e-09	1	7.78066e-09	22	68				
KDM4B	23030	broad.mit.edu	37	19	5041160	5041160	+	Silent	SNP	G	G	A			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr19:5041160G>A	ENST00000159111.4	+	5	548	c.330G>A	c.(328-330)ccG>ccA	p.P110P	KDM4B_ENST00000536461.1_Silent_p.P110P|KDM4B_ENST00000381759.4_Silent_p.P110P	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	110					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						ACTGTACCCCGCGGCACCAGG	0.577																																						ENST00000159111.4																			0				breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(328-330)ccG>ccA		lysine (K)-specific demethylase 4B							111.0	99.0	103.0					19																	5041160		2203	4300	6503	SO:0001819	synonymous_variant	23030				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr19:5041160G>A	AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	29136	protein-coding gene	gene with protein product	"""tudor domain containing 14B"""	609765	"""jumonji domain containing 2B"""	JMJD2B		10048485, 15138608	Standard	NM_015015		Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		ENST00000159111.4:c.330G>A	19.37:g.5041160G>A						KDM4B_ENST00000536461.1_Silent_p.P110P|KDM4B_ENST00000381759.4_Silent_p.P110P	p.P110P	NM_015015.2	NP_055830.1	O94953	KDM4B_HUMAN			5	548	+			110					B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Silent	SNP	ENST00000159111.4	37	c.330G>A	CCDS12138.1																																																																																				0.577	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450558.1	NM_015015		28	92	0	0	0	1	0	28	92				
SOX5	6660	broad.mit.edu	37	12	23689453	23689453	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr12:23689453C>T	ENST00000451604.2	-	14	2023	c.1922G>A	c.(1921-1923)cGc>cAc	p.R641H	SOX5_ENST00000541536.1_Missense_Mutation_p.R520H|SOX5_ENST00000309359.1_Missense_Mutation_p.R628H|SOX5_ENST00000546136.1_Missense_Mutation_p.R628H|SOX5_ENST00000545921.1_Missense_Mutation_p.R631H|SOX5_ENST00000396007.2_Missense_Mutation_p.R255H|SOX5_ENST00000381381.2_Missense_Mutation_p.R520H|SOX5_ENST00000537393.1_Missense_Mutation_p.R606H			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	641					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						TTCACCAATGCGCAGCTTTTT	0.517																																						ENST00000546136.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						c.(1882-1884)cGc>cAc		SRY (sex determining region Y)-box 5							114.0	95.0	102.0					12																	23689453		2203	4300	6503	SO:0001583	missense	6660				transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:23689453C>T	AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"""SRY (sex determining region Y)-boxes"""	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.1922G>A	12.37:g.23689453C>T	ENSP00000398273:p.Arg641His					SOX5_ENST00000545921.1_Missense_Mutation_p.R631H|SOX5_ENST00000381381.2_Missense_Mutation_p.R520H|SOX5_ENST00000309359.1_Missense_Mutation_p.R628H|SOX5_ENST00000541536.1_Missense_Mutation_p.R520H|SOX5_ENST00000451604.2_Missense_Mutation_p.R641H|SOX5_ENST00000396007.2_Missense_Mutation_p.R255H|SOX5_ENST00000537393.1_Missense_Mutation_p.R606H	p.R628H			P35711	SOX5_HUMAN			13	1885	-			641					B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Missense_Mutation	SNP	ENST00000451604.2	37	c.1883G>A	CCDS8699.1	.	.	.	.	.	.	.	.	.	.	C	36	5.778357	0.96929	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000381381;ENST00000451604;ENST00000537393;ENST00000541536;ENST00000396007;ENST00000545921	T;T;T;T;T;T;T;T	0.58940	0.3;0.3;0.3;0.3;0.3;0.3;0.3;0.3	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.79958	0.4536	M	0.84511	2.7	0.58432	D	0.999999	D;D;D	0.89917	0.999;1.0;0.97	D;D;P	0.75020	0.984;0.985;0.667	T	0.82216	-0.0567	10	0.87932	D	0	.	19.9823	0.97331	0.0:1.0:0.0:0.0	.	520;641;255	P35711-4;P35711;P35711-3	.;SOX5_HUMAN;.	H	628;628;520;641;606;520;255;631	ENSP00000437487:R628H;ENSP00000308927:R628H;ENSP00000370788:R520H;ENSP00000398273:R641H;ENSP00000439832:R606H;ENSP00000441973:R520H;ENSP00000379328:R255H;ENSP00000443520:R631H	ENSP00000308927:R628H	R	-	2	0	SOX5	23580720	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.763000	0.85283	2.788000	0.95919	0.650000	0.86243	CGC		0.517	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2	NM_006940		14	36	0	0	0	1	0	14	36				
RAB8B	51762	broad.mit.edu	37	15	63555769	63555769	+	Missense_Mutation	SNP	C	C	A			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr15:63555769C>A	ENST00000321437.4	+	8	731	c.575C>A	c.(574-576)aCa>aAa	p.T192K	RAB8B_ENST00000448330.2_Missense_Mutation_p.T175K	NM_016530.2	NP_057614.1	Q92930	RAB8B_HUMAN	RAB8B, member RAS oncogene family	192					adherens junction organization (GO:0034332)|antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|positive regulation of cell projection organization (GO:0031346)|positive regulation of corticotropin secretion (GO:0051461)|protein import into peroxisome membrane (GO:0045046)|small GTPase mediated signal transduction (GO:0007264)	cell tip (GO:0051286)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|receptor binding (GO:0005102)			kidney(3)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9						GTGAAAATAACAGAAAACCGA	0.423																																						ENST00000321437.4																			0				kidney(3)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9						c.(574-576)aCa>aAa		RAB8B, member RAS oncogene family							103.0	97.0	99.0					15																	63555769		2203	4300	6503	SO:0001583	missense	51762				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity	g.chr15:63555769C>A	AL833365	CCDS10183.1	15q22	2008-11-18			ENSG00000166128	ENSG00000166128		"""RAB, member RAS oncogene"""	30273	protein-coding gene	gene with protein product		613532				9030196, 18772196	Standard	XM_006720569		Approved		uc002alz.3	Q92930	OTTHUMG00000132862	ENST00000321437.4:c.575C>A	15.37:g.63555769C>A	ENSP00000312734:p.Thr192Lys					RAB8B_ENST00000448330.2_Missense_Mutation_p.T175K	p.T192K	NM_016530.2	NP_057614.1	Q92930	RAB8B_HUMAN			8	731	+			192					Q5JPC4|Q9P293	Missense_Mutation	SNP	ENST00000321437.4	37	c.575C>A	CCDS10183.1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.698066	0.68386	.	.	ENSG00000166128	ENST00000321437;ENST00000448330	T;T	0.64438	0.1;-0.1	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.42966	0.1226	N	0.08118	0	0.58432	D	0.999998	B;B	0.02656	0.0;0.0	B;B	0.10450	0.005;0.001	T	0.37361	-0.9709	10	0.10636	T	0.68	.	18.6519	0.91433	0.0:1.0:0.0:0.0	.	175;192	F5GY21;Q92930	.;RAB8B_HUMAN	K	192;175	ENSP00000312734:T192K;ENSP00000405463:T175K	ENSP00000312734:T192K	T	+	2	0	RAB8B	61342822	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.190000	0.77755	2.646000	0.89796	0.467000	0.42956	ACA		0.423	RAB8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256336.1	NM_016530		4	48	1	0	0.000602214	1	0.000623981	4	48				
OR52J3	119679	broad.mit.edu	37	11	5068207	5068207	+	Missense_Mutation	SNP	T	T	C			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr11:5068207T>C	ENST00000380370.1	+	1	452	c.452T>C	c.(451-453)gTa>gCa	p.V151A		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	151						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V151A(1)		NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGTGCATTGTAATTCGTCCC	0.473																																						ENST00000380370.1																			1	Substitution - Missense(1)	p.V151A(1)	large_intestine(1)	NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36						c.(451-453)gTa>gCa		olfactory receptor, family 52, subfamily J, member 3							196.0	129.0	152.0					11																	5068207		2201	4298	6499	SO:0001583	missense	119679				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5068207T>C	AB065530	CCDS31370.1	11p15.4	2012-08-09			ENSG00000205495	ENSG00000205495		"""GPCR / Class A : Olfactory receptors"""	14799	protein-coding gene	gene with protein product							Standard	NM_001001916		Approved		uc010qyv.2	Q8NH60	OTTHUMG00000066600	ENST00000380370.1:c.452T>C	11.37:g.5068207T>C	ENSP00000369728:p.Val151Ala						p.V151A	NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	452	+		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)	151					Q6IFE4	Missense_Mutation	SNP	ENST00000380370.1	37	c.452T>C	CCDS31370.1	.	.	.	.	.	.	.	.	.	.	T	4.283	0.051688	0.08291	.	.	ENSG00000205495	ENST00000380370	T	0.37411	1.2	4.19	3.04	0.35103	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42420	D	0.000713	T	0.33411	0.0862	L	0.53729	1.69	0.09310	N	1	B	0.10296	0.003	B	0.22880	0.042	T	0.32929	-0.9888	10	0.62326	D	0.03	.	9.8235	0.40896	0.0:0.0:0.1731:0.8269	.	151	Q8NH60	O52J3_HUMAN	A	151	ENSP00000369728:V151A	ENSP00000369728:V151A	V	+	2	0	OR52J3	5024783	0.000000	0.05858	0.002000	0.10522	0.031000	0.12232	-0.496000	0.06436	0.626000	0.30322	0.533000	0.62120	GTA		0.473	OR52J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142807.1	NM_001001916		9	38	0	0	0	1	0	9	38				
CERK	64781	broad.mit.edu	37	22	47085927	47085927	+	Silent	SNP	G	G	A	rs375210247		TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr22:47085927G>A	ENST00000216264.8	-	12	1615	c.1503C>T	c.(1501-1503)tgC>tgT	p.C501C	CERK_ENST00000471929.1_5'Flank|CERK_ENST00000541677.1_Silent_p.C303C	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN	ceramide kinase	501					ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|lipid phosphorylation (GO:0046834)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|magnesium ion binding (GO:0000287)|NAD+ kinase activity (GO:0003951)			cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CCTCCCCGTCGCAGTTCCAGG	0.647													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14484	0.0		0.0	False		,,,				2504	0.0					ENST00000216264.8																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20						c.(1501-1503)tgC>tgT		ceramide kinase		G		1,4405	2.1+/-5.4	0,1,2202	44.0	36.0	39.0		1503	-4.6	1.0	22		39	0,8600		0,0,4300	no	coding-synonymous	CERK	NM_022766.5		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		501/538	47085927	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	64781				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process	integral to membrane of membrane fraction|membrane|nucleus	ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding	g.chr22:47085927G>A	AB079066	CCDS14077.1	22q13.31	2008-06-10			ENSG00000100422	ENSG00000100422			19256	protein-coding gene	gene with protein product		610307				11956206, 11258795	Standard	NM_022766		Approved	hCERK, FLJ23239, dA59H18.3, DKFZp434E0211, FLJ21430, KIAA1646, LK4, dA59H18.2	uc003bia.3	Q8TCT0	OTTHUMG00000150395	ENST00000216264.8:c.1503C>T	22.37:g.47085927G>A						CERK_ENST00000541677.1_Silent_p.C303C	p.C501C	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)	12	1615	-		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)	501					A0JNT4|A8K611|Q6NX59|Q9BYB3|Q9UGE5	Silent	SNP	ENST00000216264.8	37	c.1503C>T	CCDS14077.1																																																																																				0.647	CERK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317924.2	NM_022766		14	14	0	0	0	1	0	14	14				
MYO7A	4647	broad.mit.edu	37	11	76868015	76868015	+	Missense_Mutation	SNP	C	C	A	rs41298133		TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr11:76868015C>A	ENST00000409709.3	+	7	972	c.700C>A	c.(700-702)Cag>Aag	p.Q234K	MYO7A_ENST00000458637.2_Missense_Mutation_p.Q234K|MYO7A_ENST00000409619.2_Missense_Mutation_p.Q223K|MYO7A_ENST00000409893.1_Missense_Mutation_p.Q234K	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	234	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GAAGATTGAGCAGTACCTGCT	0.597																																						ENST00000409709.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	GRCh37	CM950829	MYO7A	M	rs41298133	c.(700-702)Cag>Aag		myosin VIIA							73.0	80.0	78.0					11																	76868015		2053	4178	6231	SO:0001583	missense	4647				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr11:76868015C>A	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.700C>A	11.37:g.76868015C>A	ENSP00000386331:p.Gln234Lys					MYO7A_ENST00000458637.2_Missense_Mutation_p.Q234K|MYO7A_ENST00000409619.2_Missense_Mutation_p.Q223K|MYO7A_ENST00000409893.1_Missense_Mutation_p.Q234K	p.Q234K	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN			7	972	+			234			Myosin head-like.		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	ENST00000409709.3	37	c.700C>A	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	c	33	5.258804	0.95368	.	.	ENSG00000137474	ENST00000409709;ENST00000409893;ENST00000458637;ENST00000409619;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000343419	D;D;D;D	0.86562	-2.14;-2.14;-2.14;-2.14	5.2	5.2	0.72013	Myosin head, motor domain (2);	0.000000	0.64402	D	0.000001	D	0.91026	0.7177	L	0.61218	1.895	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.79108	0.987;0.982;0.992	D	0.86849	0.2022	10	0.02654	T	1	.	18.7506	0.91812	0.0:1.0:0.0:0.0	.	234;234;234	B9A012;F8VUN5;Q13402	.;.;MYO7A_HUMAN	K	234;234;234;223;233;233;233;233	ENSP00000386331:Q234K;ENSP00000386689:Q234K;ENSP00000392185:Q234K;ENSP00000386635:Q223K	ENSP00000345075:Q233K	Q	+	1	0	MYO7A	76545663	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.752000	0.85141	2.412000	0.81896	0.651000	0.88453	CAG		0.597	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		4	61	1	0	0.184627	1	0.186799	4	61				
PRG4	10216	broad.mit.edu	37	1	186276296	186276296	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr1:186276296C>T	ENST00000445192.2	+	7	1490	c.1445C>T	c.(1444-1446)cCt>cTt	p.P482L	PRG4_ENST00000367485.4_Missense_Mutation_p.P389L|PRG4_ENST00000367483.4_Missense_Mutation_p.P441L|PRG4_ENST00000367486.3_Missense_Mutation_p.P439L|PRG4_ENST00000367484.3_Intron	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	482	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						CCCAAAGAGCCTGCACCCACT	0.647																																						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.(1444-1446)cCt>cTt		proteoglycan 4							94.0	100.0	98.0					1																	186276296		2203	4297	6500	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276296C>T	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1445C>T	1.37:g.186276296C>T	ENSP00000399679:p.Pro482Leu					PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Missense_Mutation_p.P439L|PRG4_ENST00000367485.4_Missense_Mutation_p.P389L|PRG4_ENST00000367483.4_Missense_Mutation_p.P441L	p.P482L	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1490	+			482			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.1445C>T	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	c	5.776	0.327581	0.10956	.	.	ENSG00000116690	ENST00000367486;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T	0.07021	3.23;3.32;3.23;3.32	3.02	0.965	0.19661	.	2.270650	0.04553	U	0.390220	T	0.11110	0.0271	M	0.67397	2.05	0.09310	N	1	B;B;B;B	0.12013	0.005;0.005;0.003;0.005	B;B;B;B	0.12837	0.008;0.008;0.004;0.008	T	0.38436	-0.9661	9	.	.	.	-3.8301	4.8619	0.13588	0.37:0.5221:0.0:0.1079	.	348;389;482;441	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	L	439;348;441;389;482	ENSP00000356456:P439L;ENSP00000356453:P441L;ENSP00000356455:P389L;ENSP00000399679:P482L	.	P	+	2	0	PRG4	184542919	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.060000	0.14342	0.129000	0.18514	0.186000	0.17326	CCT		0.647	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		25	44	0	0	0	1	0	25	44				
SHARPIN	81858	broad.mit.edu	37	8	145154289	145154289	+	Silent	SNP	G	G	A			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr8:145154289G>A	ENST00000398712.2	-	6	1249	c.813C>T	c.(811-813)gtC>gtT	p.V271V	SHARPIN_ENST00000533948.1_5'Flank	NM_030974.3	NP_112236.3	Q9H0F6	SHRPN_HUMAN	SHANK-associated RH domain interactor	271	Interaction with SHANK1. {ECO:0000250}.|Ubiquitin-like.				apoptotic nuclear changes (GO:0030262)|brain development (GO:0007420)|keratinization (GO:0031424)|mitochondrion organization (GO:0007005)|negative regulation of inflammatory response (GO:0050728)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein homooligomerization (GO:0051260)|protein linear polyubiquitination (GO:0097039)|regulation of CD40 signaling pathway (GO:2000348)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendrite (GO:0030425)|LUBAC complex (GO:0071797)|postsynaptic density (GO:0014069)	polyubiquitin binding (GO:0031593)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|lung(2)|ovary(2)	7	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACCGTCCGATGACCCAGCGTT	0.632																																						ENST00000398712.2																			0				breast(1)|endometrium(1)|kidney(1)|lung(2)|ovary(2)	7						c.(811-813)gtC>gtT		SHANK-associated RH domain interactor							51.0	61.0	58.0					8																	145154289		2152	4254	6406	SO:0001819	synonymous_variant	81858				negative regulation of inflammatory response|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein linear polyubiquitination|regulation of CD40 signaling pathway|regulation of tumor necrosis factor-mediated signaling pathway	cytosol|LUBAC complex	polyubiquitin binding|zinc ion binding	g.chr8:145154289G>A	AL136816	CCDS43777.1	8q24.3	2005-08-09				ENSG00000179526			25321	protein-coding gene	gene with protein product		611885				11178875, 12753155	Standard	NM_030974		Approved	DKFZP434N1923, SIPL1	uc003zba.3	Q9H0F6		ENST00000398712.2:c.813C>T	8.37:g.145154289G>A							p.V271V	NM_030974.3	NP_112236.3	Q9H0F6	SHRPN_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		6	1249	-	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		271			Interaction with SHANK1 (By similarity).|Ubiquitin-like.		A6NEG3|C0L3L2|D3DWL3|Q8IXF5|Q8IXF6|Q8N2E7|Q8TB25|Q9BUE4	Silent	SNP	ENST00000398712.2	37	c.813C>T	CCDS43777.1																																																																																				0.632	SHARPIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382901.1	NM_030974		17	59	0	0	0	1	0	17	59				
CACNG7	59284	broad.mit.edu	37	19	54445483	54445483	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr19:54445483C>T	ENST00000391767.1	+	6	976	c.764C>T	c.(763-765)aCg>aTg	p.T255M	CACNG7_ENST00000222212.2_Missense_Mutation_p.T255M			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	255				GAGVMSVYLFTKRYAEEEMYRPHPAFYRPRLSDCSDYSGQF LQPEAWRRGRSPSDISSDVSIQMTQNYPPAIKYPDHLHIST SPC -> VTSVGPRL (in Ref. 1; AAK20030). {ECO:0000305}.	calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		ATCCAAATGACGCAGAACTAC	0.687																																						ENST00000391767.1																			0				NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(763-765)aCg>aTg		calcium channel, voltage-dependent, gamma subunit 7							137.0	145.0	142.0					19																	54445483		2203	4300	6503	SO:0001583	missense	59284				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr19:54445483C>T	AF288387	CCDS12868.1	19q13.4	2008-05-02			ENSG00000105605	ENSG00000105605		"""Calcium channel subunits"""	13626	protein-coding gene	gene with protein product		606899				11170751	Standard	NM_031896		Approved		uc002qcr.2	P62955	OTTHUMG00000064852	ENST00000391767.1:c.764C>T	19.37:g.54445483C>T	ENSP00000375647:p.Thr255Met					CACNG7_ENST00000222212.2_Missense_Mutation_p.T255M	p.T255M			P62955	CCG7_HUMAN		GBM - Glioblastoma multiforme(134;0.0711)	6	976	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		255	GAGVMSVYLFTKRYAEEEMYRPHPAFYRPRLSDCSDYSGQF LQPEAWRRGRSPSDISSDVSIQMTQNYPPAIKYPDHLHIST SPC -> VTSVGPRL (in Ref. 1; AAK20030).				Q52LL8|Q8VBX3|Q8WXS6|Q9BXT1	Missense_Mutation	SNP	ENST00000391767.1	37	c.764C>T	CCDS12868.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.022477	0.75275	.	.	ENSG00000105605	ENST00000391767;ENST00000222212	T;T	0.64618	-0.11;-0.11	3.89	3.89	0.44902	.	0.064498	0.64402	D	0.000014	T	0.50820	0.1638	N	0.14661	0.345	0.80722	D	1	D	0.63880	0.993	P	0.47981	0.563	T	0.59268	-0.7486	10	0.59425	D	0.04	-16.0931	13.7553	0.62933	0.0:1.0:0.0:0.0	.	255	P62955	CCG7_HUMAN	M	255	ENSP00000375647:T255M;ENSP00000222212:T255M	ENSP00000222212:T255M	T	+	2	0	CACNG7	59137295	0.987000	0.35691	1.000000	0.80357	0.985000	0.73830	1.763000	0.38461	1.900000	0.55004	0.491000	0.48974	ACG		0.687	CACNG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139240.2			19	162	0	0	0	1	0	19	162				
OR4S2	219431	broad.mit.edu	37	11	55418538	55418538	+	Missense_Mutation	SNP	T	T	G			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr11:55418538T>G	ENST00000312422.2	+	1	159	c.159T>G	c.(157-159)ttT>ttG	p.F53L		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	53						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				GCAACCTGTTTAAGTCACCCA	0.393																																						ENST00000312422.2																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(157-159)ttT>ttG		olfactory receptor, family 4, subfamily S, member 2							235.0	187.0	204.0					11																	55418538		2181	4043	6224	SO:0001583	missense	219431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55418538T>G	BK004390	CCDS31505.1	11q11	2012-08-09	2002-11-13	2002-11-15	ENSG00000174982	ENSG00000174982		"""GPCR / Class A : Olfactory receptors"""	15183	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily S, member 2 pseudogene"""	OR4S2P			Standard	NM_001004059		Approved	OST725	uc001nhs.1	Q8NH73	OTTHUMG00000166799	ENST00000312422.2:c.159T>G	11.37:g.55418538T>G	ENSP00000310337:p.Phe53Leu						p.F53L	NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN			1	159	+		all_epithelial(135;0.0748)	53					Q6IF72	Missense_Mutation	SNP	ENST00000312422.2	37	c.159T>G	CCDS31505.1	.	.	.	.	.	.	.	.	.	.	T	0.004	-2.266576	0.00259	.	.	ENSG00000174982	ENST00000312422	T	0.01076	5.37	5.36	-2.41	0.06562	GPCR, rhodopsin-like superfamily (1);	0.665977	0.13799	N	0.361947	T	0.00210	0.0006	N	0.00024	-2.705	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.43458	-0.9390	10	0.02654	T	1	.	2.0438	0.03556	0.1119:0.2368:0.2203:0.431	.	53	Q8NH73	OR4S2_HUMAN	L	53	ENSP00000310337:F53L	ENSP00000310337:F53L	F	+	3	2	OR4S2	55175114	0.000000	0.05858	0.004000	0.12327	0.022000	0.10575	-8.444000	0.00020	-0.526000	0.06383	-0.384000	0.06662	TTT		0.393	OR4S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391503.1	NM_001004059		4	85	0	0	0	1	0	4	85				
DNM1P47	100216544	broad.mit.edu	37	15	102292770	102292770	+	RNA	SNP	C	C	T	rs199538020	byFrequency	TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr15:102292770C>T	ENST00000561463.1	+	0	816									DNM1 pseudogene 47																		AGCGGCGCGACGAGATGCTGC	0.597																																						ENST00000561463.1																			0																																																			0							g.chr15:102292770C>T	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102292770C>T														0	816	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.597	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		3	42	0	0	0	1	0	3	42				
GOLGA2P5	55592	broad.mit.edu	37	12	100562731	100562731	+	RNA	SNP	G	G	A			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr12:100562731G>A	ENST00000397112.4	-	0	599					NR_036632.1		Q9HBQ8	GGA2B_HUMAN								Golgi apparatus (GO:0005794)				large_intestine(1)|lung(3)	4						GCCTGAGGGCGTCTCTCTCTT	0.542																																						ENST00000397112.4																			0				large_intestine(1)|lung(3)	4																																														0							g.chr12:100562731G>A																													12.37:g.100562731G>A								NR_036632.1						0	599	-								Q9NSV2	RNA	SNP	ENST00000397112.4	37																																																																																						0.542	GOLGA2B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000396439.2			5	57	0	0	0	1	0	5	57				
GJB5	2709	broad.mit.edu	37	1	35223665	35223665	+	Missense_Mutation	SNP	C	C	T	rs148092547		TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr1:35223665C>T	ENST00000338513.1	+	2	907	c.734C>T	c.(733-735)tCg>tTg	p.S245L	GJB4_ENST00000339480.1_5'Flank	NM_005268.3	NP_005259.1	O95377	CXB5_HUMAN	gap junction protein, beta 5, 31.1kDa	245					cell communication (GO:0007154)|epidermis development (GO:0008544)|labyrinthine layer morphogenesis (GO:0060713)|spongiotrophoblast differentiation (GO:0060708)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)	10		Myeloproliferative disorder(586;0.0393)				GACCTCCTTTCGGGTGACCTC	0.567																																						ENST00000338513.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						c.(733-735)tCg>tTg		gap junction protein, beta 5, 31.1kDa							127.0	109.0	115.0					1																	35223665		2203	4300	6503	SO:0001583	missense	2709				cell communication|epidermis development	connexon complex|integral to membrane		g.chr1:35223665C>T	BC004379	CCDS382.1	1p34.3	2008-05-14	2007-11-06		ENSG00000189280	ENSG00000189280		"""Ion channels / Gap junction proteins (connexins)"""	4287	protein-coding gene	gene with protein product	"""connexin 31.1"""	604493	"""gap junction protein, beta 5 (connexin 31.1)"", ""gap junction protein, beta 5"""			9843209	Standard	NM_005268		Approved	CX31.1	uc001bxu.4	O95377	OTTHUMG00000004053	ENST00000338513.1:c.734C>T	1.37:g.35223665C>T	ENSP00000340811:p.Ser245Leu						p.S245L	NM_005268.3	NP_005259.1	O95377	CXB5_HUMAN			2	907	+		Myeloproliferative disorder(586;0.0393)	245					Q9UPA3	Missense_Mutation	SNP	ENST00000338513.1	37	c.734C>T	CCDS382.1	.	.	.	.	.	.	.	.	.	.	C	9.289	1.050040	0.19827	.	.	ENSG00000189280	ENST00000338513	D	0.97906	-4.6	5.71	2.87	0.33458	.	2.176210	0.02036	N	0.048955	D	0.95063	0.8401	N	0.25426	0.745	0.24012	N	0.996171	B	0.02656	0.0	B	0.01281	0.0	D	0.86361	0.1717	10	0.38643	T	0.18	.	9.3155	0.37932	0.0:0.7727:0.0:0.2273	.	245	O95377	CXB5_HUMAN	L	245	ENSP00000340811:S245L	ENSP00000340811:S245L	S	+	2	0	GJB5	34996252	0.000000	0.05858	0.383000	0.26132	0.165000	0.22458	-0.300000	0.08243	0.357000	0.24183	-0.244000	0.11960	TCG		0.567	GJB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011561.1	NM_005268		16	45	0	0	0	1	0	16	45				
SYT15	83849	broad.mit.edu	37	10	46967543	46967543	+	Silent	SNP	C	C	T	rs561143478		TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr10:46967543C>T	ENST00000374321.4	-	4	600	c.534G>A	c.(532-534)tcG>tcA	p.S178S	RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000503753.1_Silent_p.S178S|SYT15_ENST00000374323.4_Silent_p.S231S|SYT15_ENST00000374325.3_Silent_p.S178S	NM_031912.4	NP_114118.2	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	178	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						TGCAGGTCTCCGAGGGGGCTT	0.627													C|||	1	0.000199681	0.0	0.0014	5008	,	,		33913	0.0		0.0	False		,,,				2504	0.0				Ovarian(57;1152 1428 19651 37745)	ENST00000374323.3																			0				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						c.(691-693)tcG>tcA		synaptotagmin XV							52.0	64.0	60.0					10																	46967543		2054	4195	6249	SO:0001819	synonymous_variant	83849					integral to membrane|plasma membrane		g.chr10:46967543C>T	AJ303363	CCDS73103.1, CCDS73104.1	10q11.1	2013-01-21			ENSG00000204176	ENSG00000204176		"""Synaptotagmins"""	17167	protein-coding gene	gene with protein product		608081				11543631	Standard	NM_031912		Approved	CHR10SYT	uc001jea.3	Q9BQS2	OTTHUMG00000018103	ENST00000374321.4:c.534G>A	10.37:g.46967543C>T						SYT15_ENST00000503753.1_Silent_p.S178S|SYT15_ENST00000374325.3_Silent_p.S178S|SYT15_ENST00000374321.4_Silent_p.S178S	p.S231S			Q9BQS2	SYT15_HUMAN			3	1280	-			178			C2 1.		A5D6W8|Q5VY53|Q5VY55|Q7Z439|Q7Z440	Silent	SNP	ENST00000374321.4	37	c.693G>A	CCDS44376.1	.	.	.	.	.	.	.	.	.	.	C	2.305	-0.359264	0.05138	.	.	ENSG00000204176	ENST00000374330	.	.	.	4.7	-9.4	0.00616	.	.	.	.	.	.	.	.	.	.	.	0.53688	D	0.99997	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.1951	0.15232	0.0882:0.0967:0.2217:0.5934	.	.	.	.	.	-1	.	.	.	-	.	.	SYT15	46387549	0.000000	0.05858	0.007000	0.13788	0.354000	0.29330	-7.108000	0.00044	-3.426000	0.00165	-3.078000	0.00066	.		0.627	SYT15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367008.1	NM_031912		5	56	0	0	0	1	0	5	56				
RUFY4	285180	broad.mit.edu	37	2	218940430	218940430	+	Silent	SNP	G	G	A			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr2:218940430G>A	ENST00000344321.7	+	9	1733	c.1215G>A	c.(1213-1215)gaG>gaA	p.E405E	RUFY4_ENST00000441828.2_3'UTR|RUFY4_ENST00000463872.1_3'UTR|RUFY4_ENST00000374155.3_Silent_p.E425E	NM_198483.3	NP_940885.2	Q6ZNE9	RUFY4_HUMAN	RUN and FYVE domain containing 4	405							metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GAAGGGAGGAGCAAGCCGAGG	0.562																																						ENST00000374155.3																			0				endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10						c.(1273-1275)gaG>gaA		RUN and FYVE domain containing 4							87.0	84.0	85.0					2																	218940430		2026	4179	6205	SO:0001819	synonymous_variant	285180						metal ion binding	g.chr2:218940430G>A	AK128393		2q35	2007-01-29			ENSG00000188282	ENSG00000188282		"""Zinc fingers, FYVE domain containing"""	24804	protein-coding gene	gene with protein product							Standard	NM_198483		Approved	FLJ46536	uc010fvl.2	Q6ZNE9	OTTHUMG00000155235	ENST00000344321.7:c.1215G>A	2.37:g.218940430G>A						RUFY4_ENST00000441828.2_3'UTR|RUFY4_ENST00000344321.7_Silent_p.E405E|RUFY4_ENST00000463872.1_3'UTR	p.E425E			Q6ZNE9	RUFY4_HUMAN		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	8	1685	+		Renal(207;0.0915)	405					Q6ZR96	Silent	SNP	ENST00000344321.7	37	c.1275G>A																																																																																					0.562	RUFY4-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_198483		10	69	0	0	0	1	0	10	69				
LRRC37A4P	55073	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs2684618	byFrequency	TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr17:43587576A>G	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		tctgaaaagaaaagaaaaaaa	0.428													A|||	308	0.0615016	0.0204	0.0548	5008	,	,		16882	0.0685		0.1113	False		,,,				2504	0.0634					ENST00000253803.2																			0																																																			0							g.chr17:43587576A>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.43587576A>G						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.428	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		4	43	0	0	0	1	0	4	43				
PTPLA	9200	broad.mit.edu	37	10	17645744	17645744	+	Splice_Site	SNP	C	C	T			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr10:17645744C>T	ENST00000361271.3	-	3	413		c.e3-1			NM_014241.3	NP_055056.3	B0YJ81	HACD1_HUMAN	protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A						fatty acid biosynthetic process (GO:0006633)|multicellular organismal development (GO:0007275)|myotube differentiation (GO:0014902)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	lyase activity (GO:0016829)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	13						AGTGAACTATCTGTAAGCAAA	0.284																																						ENST00000361271.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	13						c.e3-1		protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A							34.0	33.0	33.0					10																	17645744		2200	4300	6500	SO:0001630	splice_region_variant	9200				fatty acid biosynthetic process|multicellular organismal development|signal transduction	endoplasmic reticulum membrane|integral to membrane	lyase activity|protein tyrosine phosphatase activity	g.chr10:17645744C>T	AF114494	CCDS7121.1	10p14-p13	2008-08-01	2005-11-11		ENSG00000165996	ENSG00000165996			9639	protein-coding gene	gene with protein product	"""cementum attachment protein"""	610467	"""protein tyrosine phosphatase-like (proline instead of catalytic arginine), member a"""			10644438	Standard	XM_005252641		Approved	CAP	uc001ipg.3	B0YJ81	OTTHUMG00000017750	ENST00000361271.3:c.376-1G>A	10.37:g.17645744C>T								NM_014241.3	NP_055056.3	B0YJ81	HACD1_HUMAN			3	413	-								B0YJ80|Q6JIC5|Q96FW7|Q9HB93|Q9UHX2	Splice_Site	SNP	ENST00000361271.3	37		CCDS7121.1	.	.	.	.	.	.	.	.	.	.	C	9.822	1.185925	0.21870	.	.	ENSG00000165996	ENST00000361271	.	.	.	4.78	4.78	0.61160	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1832	0.89785	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PTPLA	17685750	1.000000	0.71417	1.000000	0.80357	0.426000	0.31534	3.681000	0.54648	2.369000	0.80426	0.460000	0.39030	.		0.284	PTPLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047046.1	NM_014241	Intron	6	50	0	0	0	1	0	6	50				
ZNF502	91392	broad.mit.edu	37	3	44763153	44763153	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr3:44763153C>T	ENST00000296091.4	+	4	1100	c.844C>T	c.(844-846)Ctt>Ttt	p.L282F	ZNF502_ENST00000436624.2_Missense_Mutation_p.L282F|ZNF502_ENST00000449836.1_Missense_Mutation_p.L282F	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	282					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)		GAATACACACCTTATTCATCA	0.413																																						ENST00000296091.4																			0				NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19						c.(844-846)Ctt>Ttt		zinc finger protein 502							187.0	192.0	190.0					3																	44763153		2203	4300	6503	SO:0001583	missense	91392				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:44763153C>T	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.844C>T	3.37:g.44763153C>T	ENSP00000296091:p.Leu282Phe					ZNF502_ENST00000449836.1_Missense_Mutation_p.L282F|ZNF502_ENST00000436624.2_Missense_Mutation_p.L282F	p.L282F	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	1100	+			282						Missense_Mutation	SNP	ENST00000296091.4	37	c.844C>T	CCDS2719.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.639268	0.47153	.	.	ENSG00000196653	ENST00000449836;ENST00000296091;ENST00000436624	T;T;T	0.13657	2.57;2.57;2.57	4.13	1.32	0.21799	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19127	0.0459	M	0.83774	2.66	0.09310	N	1	B	0.22146	0.065	B	0.20184	0.028	T	0.16660	-1.0395	9	0.45353	T	0.12	.	8.8709	0.35316	0.0:0.7213:0.0:0.2787	.	282	Q8TBZ5	ZN502_HUMAN	F	282	ENSP00000397390:L282F;ENSP00000296091:L282F;ENSP00000406469:L282F	ENSP00000296091:L282F	L	+	1	0	ZNF502	44738157	0.009000	0.17119	0.966000	0.40874	0.997000	0.91878	0.172000	0.16704	0.508000	0.28173	0.655000	0.94253	CTT		0.413	ZNF502-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256744.4	NM_033210		29	179	0	0	0	1	0	29	179				
CPT1C	126129	broad.mit.edu	37	19	50214009	50214009	+	Silent	SNP	G	G	A			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr19:50214009G>A	ENST00000392518.4	+	16	2133	c.1761G>A	c.(1759-1761)gaG>gaA	p.E587E	CPT1C_ENST00000354199.5_Silent_p.E587E|CPT1C_ENST00000405931.2_Silent_p.E576E|CPT1C_ENST00000323446.5_Silent_p.E587E|CPT1C_ENST00000598293.1_Silent_p.E587E	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	587					carnitine metabolic process (GO:0009437)|fatty acid beta-oxidation (GO:0006635)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endoplasmic reticulum membrane (GO:0005789)|mitochondrial outer membrane (GO:0005741)|synapse (GO:0045202)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		TGACTTATGAGTCGGCCATGA	0.567																																						ENST00000392518.4																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1759-1761)gaG>gaA		carnitine palmitoyltransferase 1C							53.0	50.0	51.0					19																	50214009		2203	4300	6503	SO:0001819	synonymous_variant	126129				fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr19:50214009G>A	AF357970	CCDS12779.1, CCDS46147.1	19q13.33	2014-03-14				ENSG00000169169			18540	protein-coding gene	gene with protein product		608846				12376098, 11001805	Standard	NM_001136052		Approved	FLJ23809, CPTIC, CPT1P	uc010eng.3	Q8TCG5		ENST00000392518.4:c.1761G>A	19.37:g.50214009G>A						CPT1C_ENST00000323446.5_Silent_p.E587E|CPT1C_ENST00000598293.1_Silent_p.E587E|CPT1C_ENST00000354199.5_Silent_p.E587E|CPT1C_ENST00000405931.2_Silent_p.E576E	p.E587E	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)	16	2133	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	587					A8K0Z8|Q5K6N5|Q8N6Q9|Q8NDS6|Q8TE84	Silent	SNP	ENST00000392518.4	37	c.1761G>A	CCDS12779.1																																																																																				0.567	CPT1C-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465873.1	NM_152359		18	47	0	0	0	1	0	18	47				
CAMKK1	84254	broad.mit.edu	37	17	3786382	3786382	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr17:3786382G>A	ENST00000348335.2	-	6	750	c.602C>T	c.(601-603)gCc>gTc	p.A201V	CAMKK1_ENST00000381769.2_Missense_Mutation_p.A228V|CAMKK1_ENST00000381771.2_Missense_Mutation_p.A201V|CAMKK1_ENST00000158166.5_Missense_Mutation_p.A201V	NM_032294.2	NP_115670.1	Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase kinase 1, alpha	201	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		CTTCAGGATGGCAATCTCCTG	0.632																																						ENST00000381771.2																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11						c.(601-603)gCc>gTc		calcium/calmodulin-dependent protein kinase kinase 1, alpha							104.0	79.0	87.0					17																	3786382		2203	4300	6503	SO:0001583	missense	84254				synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr17:3786382G>A	AL136576	CCDS11038.1, CCDS11039.1	17p13.3	2004-02-18			ENSG00000004660	ENSG00000004660			1469	protein-coding gene	gene with protein product		611411				11230166	Standard	NM_172207		Approved	DKFZp761M0423, CAMKKA, MGC34095	uc002fwt.3	Q8N5S9	OTTHUMG00000090725	ENST00000348335.2:c.602C>T	17.37:g.3786382G>A	ENSP00000323118:p.Ala201Val					CAMKK1_ENST00000158166.5_Missense_Mutation_p.A201V|CAMKK1_ENST00000381769.2_Missense_Mutation_p.A228V|CAMKK1_ENST00000348335.2_Missense_Mutation_p.A201V	p.A201V			Q8N5S9	KKCC1_HUMAN		LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)	6	749	-			201			Protein kinase.		Q9BQH3	Missense_Mutation	SNP	ENST00000348335.2	37	c.602C>T	CCDS11038.1	.	.	.	.	.	.	.	.	.	.	G	34	5.310617	0.95629	.	.	ENSG00000004660	ENST00000381769;ENST00000348335;ENST00000381771;ENST00000158166	T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22	5.43	5.43	0.79202	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	0.85682	D	0.000000	T	0.79028	0.4377	L	0.53561	1.675	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.80627	-0.1298	10	0.87932	D	0	-23.2958	16.7263	0.85422	0.0:0.0:1.0:0.0	.	201;201	F8W9H1;Q8N5S9	.;KKCC1_HUMAN	V	228;201;201;201	ENSP00000371188:A228V;ENSP00000323118:A201V;ENSP00000371190:A201V;ENSP00000158166:A201V	ENSP00000158166:A201V	A	-	2	0	CAMKK1	3733131	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.646000	0.83445	2.553000	0.86117	0.650000	0.86243	GCC		0.632	CAMKK1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207456.1	NM_032294, NM_172206, NM_172207		3	47	0	0	0	1	0	3	47				
PRG4	10216	broad.mit.edu	37	1	186276272	186276272	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr1:186276272C>T	ENST00000445192.2	+	7	1466	c.1421C>T	c.(1420-1422)cCt>cTt	p.P474L	PRG4_ENST00000367485.4_Missense_Mutation_p.P381L|PRG4_ENST00000367483.4_Missense_Mutation_p.P433L|PRG4_ENST00000367486.3_Missense_Mutation_p.P431L|PRG4_ENST00000367484.3_Intron	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	474	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						ACCAAGGAGCCTGCACCCACC	0.647																																						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.(1420-1422)cCt>cTt		proteoglycan 4							85.0	91.0	89.0					1																	186276272		2203	4299	6502	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276272C>T	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1421C>T	1.37:g.186276272C>T	ENSP00000399679:p.Pro474Leu					PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Missense_Mutation_p.P431L|PRG4_ENST00000367485.4_Missense_Mutation_p.P381L|PRG4_ENST00000367483.4_Missense_Mutation_p.P433L	p.P474L	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1466	+			474			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.1421C>T	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	c	7.681	0.689010	0.14973	.	.	ENSG00000116690	ENST00000367486;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T	0.07444	3.19;3.3;3.22;3.33	3.55	2.6	0.31112	.	0.894418	0.09172	U	0.838727	T	0.11495	0.0280	M	0.64404	1.975	0.24899	N	0.992112	B;B;B;B	0.21520	0.057;0.057;0.019;0.057	B;B;B;B	0.17098	0.017;0.017;0.007;0.017	T	0.29549	-1.0008	9	.	.	.	-0.5795	11.3052	0.49332	0.1842:0.8158:0.0:0.0	.	340;381;474;433	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	L	431;340;433;381;474	ENSP00000356456:P431L;ENSP00000356453:P433L;ENSP00000356455:P381L;ENSP00000399679:P474L	.	P	+	2	0	PRG4	184542895	0.001000	0.12720	0.001000	0.08648	0.006000	0.05464	1.255000	0.32909	0.581000	0.29539	0.186000	0.17326	CCT		0.647	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		14	46	0	0	0	1	0	14	46				
RPS20	6224	broad.mit.edu	37	8	56986676	56986676	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr8:56986676C>T	ENST00000521262.1	-	2	299	c.46G>A	c.(46-48)Gca>Aca	p.A16T	RPS20_ENST00000009589.3_Missense_Mutation_p.A16T|RPS20_ENST00000523936.1_Missense_Mutation_p.A16T|CTA-397H3.3_ENST00000521403.1_RNA|RPS20_ENST00000520490.1_5'UTR|RPS20_ENST00000519606.1_Missense_Mutation_p.A16T|SNORD54_ENST00000459159.1_RNA|RPS20_ENST00000524349.1_5'UTR|RPS20_ENST00000519807.1_Missense_Mutation_p.A16T|RPS20_ENST00000520627.1_Intron|RPS20_ENST00000518875.1_Missense_Mutation_p.A16T			P60866	RS20_HUMAN	ribosomal protein S20	16					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)						all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.155)	Epithelial(17;0.00117)|all cancers(17;0.00879)			CGGTGAATTGCCACCTCCGGC	0.473																																						ENST00000519807.1																			0											c.(46-48)Gca>Aca		ribosomal protein S20							70.0	74.0	72.0					8																	56986676		2203	4300	6503	SO:0001583	missense	6224				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome	g.chr8:56986676C>T	L06498	CCDS6163.1, CCDS55231.1	8q12.1	2011-04-05				ENSG00000008988		"""S ribosomal proteins"""	10405	protein-coding gene	gene with protein product		603682				9582194, 8479924	Standard	NM_001023		Approved	S20	uc003xsm.2	P60866		ENST00000521262.1:c.46G>A	8.37:g.56986676C>T	ENSP00000427788:p.Ala16Thr					RPS20_ENST00000009589.3_Missense_Mutation_p.A16T|RPS20_ENST00000520627.1_Intron|RPS20_ENST00000524349.1_5'UTR|RPS20_ENST00000520490.1_5'UTR|RPS20_ENST00000518875.1_Missense_Mutation_p.A16T|RPS20_ENST00000519606.1_Missense_Mutation_p.A16T|RPS20_ENST00000521262.1_Missense_Mutation_p.A16T|RPS20_ENST00000523936.1_Missense_Mutation_p.A16T	p.A16T	NM_001146227.1	NP_001139699.1	P60866	RS20_HUMAN	Epithelial(17;0.00117)|all cancers(17;0.00879)		2	171	-		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.155)	16					B2R4F4|B4DW28|P17075|Q5M8S9	Missense_Mutation	SNP	ENST00000521262.1	37	c.46G>A		.	.	.	.	.	.	.	.	.	.	C	10.10	1.258703	0.23051	.	.	ENSG00000008988	ENST00000519807;ENST00000009589;ENST00000521262;ENST00000523936;ENST00000519606;ENST00000518875	.	.	.	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.39009	0.1062	N	0.05031	-0.125	0.80722	D	1	B;B	0.14012	0.0;0.009	B;B	0.13407	0.001;0.009	T	0.17349	-1.0372	9	0.27785	T	0.31	-27.6868	18.4055	0.90535	0.0:1.0:0.0:0.0	.	16;16	P60866;B4DW28	RS20_HUMAN;.	T	16	.	ENSP00000009589:A16T	A	-	1	0	RPS20	57149230	1.000000	0.71417	1.000000	0.80357	0.097000	0.18754	5.691000	0.68249	2.349000	0.79799	0.563000	0.77884	GCA		0.473	RPS20-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000378166.1	NM_001023		4	135	0	0	0	1	0	4	135				
MAP1A	4130	broad.mit.edu	37	15	43821106	43821106	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr15:43821106C>T	ENST00000300231.5	+	4	7885	c.7435C>T	c.(7435-7437)Cgg>Tgg	p.R2479W	MAP1A_ENST00000382031.1_Missense_Mutation_p.R2717W|MAP1A_ENST00000399453.1_Missense_Mutation_p.R2479W			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2479					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)	p.R2479W(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	AAGAGGGGGGCGGCGCCGGGT	0.622																																						ENST00000382031.1																			1	Substitution - Missense(1)	p.R2479W(1)	lung(1)	breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66						c.(8149-8151)Cgg>Tgg		microtubule-associated protein 1A	Estramustine(DB01196)						31.0	34.0	33.0					15																	43821106		1865	4072	5937	SO:0001583	missense	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43821106C>T	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.7435C>T	15.37:g.43821106C>T	ENSP00000300231:p.Arg2479Trp					MAP1A_ENST00000300231.5_Missense_Mutation_p.R2479W|MAP1A_ENST00000399453.1_Missense_Mutation_p.R2479W	p.R2717W			P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	5	8180	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	2479					O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	c.8149C>T	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	C	0.028	-1.357825	0.01245	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.01548	4.78;4.78;4.78	4.9	-0.652	0.11450	.	.	.	.	.	T	0.01320	0.0043	N	0.16656	0.425	0.19775	N	0.999955	B	0.16396	0.017	B	0.12156	0.007	T	0.46707	-0.9172	9	0.36615	T	0.2	-5.3377	6.4782	0.22047	0.5083:0.3535:0.0:0.1382	.	2479	P78559	MAP1A_HUMAN	W	2717;2479;2479	ENSP00000371462:R2717W;ENSP00000382380:R2479W;ENSP00000300231:R2479W	ENSP00000300231:R2479W	R	+	1	2	MAP1A	41608398	0.595000	0.26857	0.011000	0.14972	0.027000	0.11550	0.236000	0.17967	-0.281000	0.09141	-0.379000	0.06801	CGG		0.622	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		18	43	0	0	0	1	0	18	43				
AFF2	2334	broad.mit.edu	37	X	147744151	147744151	+	Missense_Mutation	SNP	C	C	G			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chrX:147744151C>G	ENST00000370460.2	+	3	1382	c.903C>G	c.(901-903)atC>atG	p.I301M	AFF2_ENST00000370457.5_Missense_Mutation_p.I297M|AFF2_ENST00000342251.3_Missense_Mutation_p.I297M|AFF2_ENST00000370458.1_Missense_Mutation_p.I297M	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	301					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CACCGGACATCTCACCAACAC	0.483																																						ENST00000370460.2																			0				breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109						c.(901-903)atC>atG		AF4/FMR2 family, member 2							94.0	86.0	89.0					X																	147744151		2203	4300	6503	SO:0001583	missense	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:147744151C>G	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.903C>G	X.37:g.147744151C>G	ENSP00000359489:p.Ile301Met					AFF2_ENST00000342251.3_Missense_Mutation_p.I297M|AFF2_ENST00000370457.5_Missense_Mutation_p.I297M|AFF2_ENST00000370458.1_Missense_Mutation_p.I297M	p.I301M	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN			3	1382	+	Acute lymphoblastic leukemia(192;6.56e-05)		301					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	c.903C>G	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	C	11.93	1.786792	0.31593	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000370458	T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12	5.92	3.91	0.45181	.	0.157502	0.52532	D	0.000073	T	0.53530	0.1802	N	0.20986	0.625	0.80722	D	1	B;B;B;B;B;P	0.37207	0.374;0.374;0.374;0.374;0.427;0.587	B;B;B;B;P;B	0.45998	0.366;0.366;0.366;0.366;0.5;0.309	T	0.50372	-0.8836	10	0.48119	T	0.1	.	8.4924	0.33108	0.1444:0.7582:0.0:0.0974	.	301;297;297;297;301;297	P51816-6;P51816-3;P51816-2;P51816-5;P51816;P51816-4	.;.;.;.;AFF2_HUMAN;.	M	301;297;297;297	ENSP00000359489:I301M;ENSP00000359486:I297M;ENSP00000345459:I297M;ENSP00000359487:I297M	ENSP00000345459:I297M	I	+	3	3	AFF2	147551843	1.000000	0.71417	0.998000	0.56505	0.542000	0.35054	1.688000	0.37690	0.439000	0.26476	0.600000	0.82982	ATC		0.483	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		37	10	0	0	0	1	0	37	10				
SIK3	23387	broad.mit.edu	37	11	116798051	116798051	+	Missense_Mutation	SNP	C	C	G	rs369124898		TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr11:116798051C>G	ENST00000292055.4	-	4	361	c.326G>C	c.(325-327)cGg>cCg	p.R109P	SIK3_ENST00000375300.1_Missense_Mutation_p.R167P|SIK3_ENST00000542607.1_Missense_Mutation_p.R109P|SIK3_ENST00000446921.2_Missense_Mutation_p.R167P|SIK3_ENST00000375288.1_5'UTR|SIK3_ENST00000434315.2_Missense_Mutation_p.R8P	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	109	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						TTTGAACTTCCGACGTGCCTC	0.413																																						ENST00000375300.1																			0				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						c.(499-501)cGg>cCg		SIK family kinase 3							176.0	156.0	163.0					11																	116798051		2201	4296	6497	SO:0001583	missense	23387					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:116798051C>G	AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.326G>C	11.37:g.116798051C>G	ENSP00000292055:p.Arg109Pro					SIK3_ENST00000292055.4_Missense_Mutation_p.R109P|SIK3_ENST00000542607.1_Missense_Mutation_p.R109P|SIK3_ENST00000375288.1_5'UTR|SIK3_ENST00000434315.2_Missense_Mutation_p.R8P|SIK3_ENST00000446921.2_Missense_Mutation_p.R167P	p.R167P			Q9Y2K2	SIK3_HUMAN			4	505	-			109			Protein kinase.		A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Missense_Mutation	SNP	ENST00000292055.4	37	c.500G>C	CCDS8379.1	.	.	.	.	.	.	.	.	.	.	C	19.60	3.858564	0.71834	.	.	ENSG00000160584	ENST00000375300;ENST00000292055;ENST00000542607;ENST00000434315	T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22	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);	0.000000	0.37669	U	0.001995	T	0.72843	0.3511	L	0.47078	1.49	0.80722	D	1	D;B;D	0.65815	0.995;0.036;0.989	P;B;P	0.62740	0.899;0.111;0.906	T	0.74805	-0.3540	10	0.87932	D	0	.	10.1168	0.42596	0.0:0.8522:0.0:0.1478	.	109;8;109	A1A5A8;A1A5A9;Q9Y2K2	.;.;SIK3_HUMAN	P	167;109;109;8	ENSP00000364449:R167P;ENSP00000292055:R109P;ENSP00000438108:R109P;ENSP00000415873:R8P	ENSP00000292055:R109P	R	-	2	0	SIK3	116303261	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.387000	0.44389	2.627000	0.88993	0.655000	0.94253	CGG		0.413	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_025164		31	56	0	0	0	1	0	31	56				
INHA	3623	broad.mit.edu	37	2	220437228	220437228	+	Silent	SNP	C	C	T			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr2:220437228C>T	ENST00000243786.2	+	1	312	c.132C>T	c.(130-132)ccC>ccT	p.P44P	OBSL1_ENST00000404537.1_5'Flank|OBSL1_ENST00000603926.1_5'Flank|OBSL1_ENST00000373873.4_5'Flank|OBSL1_ENST00000373876.1_5'Flank|OBSL1_ENST00000491370.1_5'Flank|OBSL1_ENST00000265318.4_5'Flank|OBSL1_ENST00000289656.3_5'Flank|INHA_ENST00000489456.1_Intron	NM_002191.3	NP_002182.1	P05111	INHA_HUMAN	inhibin, alpha	44					cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|erythrocyte differentiation (GO:0030218)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|ovarian follicle development (GO:0001541)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|regulation of cell cycle (GO:0051726)|regulation of cell proliferation (GO:0042127)|response to external stimulus (GO:0009605)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|inhibin A complex (GO:0043512)|inhibin-betaglycan-ActRII complex (GO:0034673)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|receptor binding (GO:0005102)			large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10		Renal(207;0.0183)		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		TGGGGCCCCCCGCGGTGACCA	0.687											OREG0003991	type=REGULATORY REGION|Gene=BC045558|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000243786.2																			0				large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						c.(130-132)ccC>ccT		inhibin, alpha							17.0	19.0	18.0					2																	220437228		2200	4296	6496	SO:0001819	synonymous_variant	3623				cell cycle arrest|cell surface receptor linked signaling pathway|cell-cell signaling|erythrocyte differentiation|hemoglobin biosynthetic process|induction of apoptosis|negative regulation of B cell differentiation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|regulation of cell proliferation|response to external stimulus|skeletal system development	inhibin A complex|inhibin-betaglycan-ActRII complex	cytokine activity|growth factor activity|hormone activity|signal transducer activity	g.chr2:220437228C>T		CCDS2444.1	2q35	2013-09-19			ENSG00000123999	ENSG00000123999			6065	protein-coding gene	gene with protein product		147380				3345731	Standard	NM_002191		Approved		uc002vmk.2	P05111	OTTHUMG00000059237	ENST00000243786.2:c.132C>T	2.37:g.220437228C>T			OREG0003991	type=REGULATORY REGION|Gene=BC045558|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	2266	INHA_ENST00000489456.1_Intron	p.P44P	NM_002191.3	NP_002182.1	P05111	INHA_HUMAN		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)	1	312	+		Renal(207;0.0183)	44					A8K8H5	Silent	SNP	ENST00000243786.2	37	c.132C>T	CCDS2444.1																																																																																				0.687	INHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131425.1			3	4	0	0	0	1	0	3	4				
RASL10A	10633	broad.mit.edu	37	22	29709922	29709922	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr22:29709922C>T	ENST00000216101.6	-	2	783	c.274G>A	c.(274-276)Gtc>Atc	p.V92I	RASL10A_ENST00000401450.3_Missense_Mutation_p.V92I|AC002059.10_ENST00000608014.1_RNA|RASL10A_ENST00000608559.1_5'UTR	NM_006477.4	NP_006468.1	Q92737	RSLAA_HUMAN	RAS-like, family 10, member A	92	Small GTPase-like.				small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)	1						ATGTCGTAGACGAGCACGAAG	0.642																																						ENST00000401450.3																			0				NS(1)	1						c.(274-276)Gtc>Atc		RAS-like, family 10, member A							71.0	67.0	69.0					22																	29709922		2203	4300	6503	SO:0001583	missense	10633				small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity	g.chr22:29709922C>T	Y07847	CCDS13854.1	22q12.2	2014-05-09			ENSG00000100276	ENSG00000100276			16954	protein-coding gene	gene with protein product		602220				8975699, 15731001	Standard	NM_006477		Approved	RRP22	uc031rxl.1	Q92737	OTTHUMG00000151106	ENST00000216101.6:c.274G>A	22.37:g.29709922C>T	ENSP00000216101:p.Val92Ile					RASL10A_ENST00000216101.6_Missense_Mutation_p.V92I|RASL10A_ENST00000474590.1_5'UTR	p.V92I			Q92737	RSLAA_HUMAN			2	719	-			92			Small GTPase-like.		Q49AU5|Q6PI03	Missense_Mutation	SNP	ENST00000216101.6	37	c.274G>A	CCDS13854.1	.	.	.	.	.	.	.	.	.	.	C	32	5.189403	0.94923	.	.	ENSG00000100276	ENST00000401450;ENST00000216101	T;D	0.86769	-0.74;-2.17	4.01	4.01	0.46588	.	0.000000	0.85682	D	0.000000	D	0.92779	0.7704	M	0.82716	2.605	0.80722	D	1	D	0.76494	0.999	D	0.65987	0.94	D	0.93788	0.7090	10	0.72032	D	0.01	.	13.6366	0.62225	0.0:1.0:0.0:0.0	.	92	Q92737	RSLAA_HUMAN	I	92	ENSP00000386095:V92I;ENSP00000216101:V92I	ENSP00000216101:V92I	V	-	1	0	RASL10A	28039922	1.000000	0.71417	0.849000	0.33467	0.906000	0.53458	7.343000	0.79319	1.774000	0.52232	0.462000	0.41574	GTC		0.642	RASL10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321342.1			10	24	0	0	0	1	0	10	24				
UBR4	23352	broad.mit.edu	37	1	19468211	19468211	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr1:19468211G>A	ENST00000375254.3	-	56	8267	c.8240C>T	c.(8239-8241)cCg>cTg	p.P2747L	UBR4_ENST00000375226.2_Missense_Mutation_p.P2758L|UBR4_ENST00000375267.2_Missense_Mutation_p.P2747L|UBR4_ENST00000375217.2_Missense_Mutation_p.P2775L	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2747					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ACCACCATTCGGGATCCCTGA	0.512																																						ENST00000375267.2																			0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(8239-8241)cCg>cTg		ubiquitin protein ligase E3 component n-recognin 4							169.0	142.0	151.0					1																	19468211		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19468211G>A	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.8240C>T	1.37:g.19468211G>A	ENSP00000364403:p.Pro2747Leu					UBR4_ENST00000375254.3_Missense_Mutation_p.P2747L|UBR4_ENST00000375217.2_Missense_Mutation_p.P2775L|UBR4_ENST00000375226.2_Missense_Mutation_p.P2758L	p.P2747L			Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	56	8243	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	2747					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.8240C>T	CCDS189.1	.	.	.	.	.	.	.	.	.	.	G	14.09	2.431861	0.43122	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000425413;ENST00000417040	T;T;T;T	0.23754	1.9;1.9;1.89;1.91	5.96	5.96	0.96718	.	0.118020	0.64402	D	0.000019	T	0.16085	0.0387	N	0.08118	0	0.80722	D	1	B	0.23806	0.091	B	0.14023	0.01	T	0.12451	-1.0547	10	0.20519	T	0.43	.	20.3959	0.98984	0.0:0.0:1.0:0.0	.	2747	Q5T4S7	UBR4_HUMAN	L	2747;2747;2775;2758;390;1468	ENSP00000364403:P2747L;ENSP00000364416:P2747L;ENSP00000364365:P2775L;ENSP00000364374:P2758L	ENSP00000364365:P2775L	P	-	2	0	UBR4	19340798	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.496000	0.81526	2.828000	0.97474	0.579000	0.79373	CCG		0.512	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		16	55	0	0	0	1	0	16	55				
LYST	1130	broad.mit.edu	37	1	235840908	235840908	+	Missense_Mutation	SNP	T	T	C			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr1:235840908T>C	ENST00000389794.3	-	49	10986	c.10812A>G	c.(10810-10812)atA>atG	p.I3604M	LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.I3604M			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3604					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TCTCCATTTCTATTTCTGATG	0.328																																						ENST00000389794.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(10810-10812)atA>atG		lysosomal trafficking regulator							99.0	91.0	93.0					1																	235840908		2203	4300	6503	SO:0001583	missense	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235840908T>C	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.10812A>G	1.37:g.235840908T>C	ENSP00000374444:p.Ile3604Met					LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.I3604M	p.I3604M			Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		49	10986	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	3604					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.10812A>G	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	T	11.93	1.785419	0.31593	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.62639	0.01;0.01	5.7	1.89	0.25635	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.040397	0.85682	D	0.000000	T	0.41858	0.1177	N	0.20986	0.625	0.80722	D	1	B	0.24576	0.106	B	0.16722	0.016	T	0.12915	-1.0529	10	0.45353	T	0.12	.	6.4136	0.21704	0.37:0.0:0.243:0.387	.	3604	Q99698	LYST_HUMAN	M	3604	ENSP00000374444:I3604M;ENSP00000374443:I3604M	ENSP00000374443:I3604M	I	-	3	3	LYST	233907531	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	0.635000	0.24629	0.054000	0.16065	-0.313000	0.08912	ATA		0.328	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			22	50	0	0	0	1	0	22	50				
SLX4IP	128710	broad.mit.edu	37	20	10603340	10603340	+	Silent	SNP	G	G	A	rs375752597		TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr20:10603340G>A	ENST00000334534.5	+	8	720	c.540G>A	c.(538-540)acG>acA	p.T180T		NM_001009608.1	NP_001009608.1	Q5VYV7	SLX4I_HUMAN	SLX4 interacting protein	180																	GCAGTGTCACGAGCAAATCGC	0.433																																						ENST00000334534.5																			0											c.(538-540)acG>acA		SLX4 interacting protein		G		1,4405	2.1+/-5.4	0,1,2202	64.0	57.0	59.0		540	3.8	0.2	20		59	0,8600		0,0,4300	no	coding-synonymous	C20orf94	NM_001009608.1		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		180/409	10603340	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	128710							g.chr20:10603340G>A	AL035456	CCDS33439.1	20p12	2012-10-30	2012-10-30	2012-10-30	ENSG00000149346	ENSG00000149346			16225	protein-coding gene	gene with protein product		615958	"""chromosome 20 open reading frame 94"""	C20orf94		19596235	Standard	XM_005260664		Approved	dJ1099D15.3	uc010zre.2	Q5VYV7	OTTHUMG00000031873	ENST00000334534.5:c.540G>A	20.37:g.10603340G>A							p.T180T	NM_001009608.1	NP_001009608.1					8	720	+								Q05CG2|Q05CT9	Silent	SNP	ENST00000334534.5	37	c.540G>A	CCDS33439.1																																																																																				0.433	SLX4IP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078000.3	NM_001009608		15	41	0	0	0	1	0	15	41				
WASF2	10163	broad.mit.edu	37	1	27742572	27742573	+	Frame_Shift_Del	DEL	TT	TT	-	rs200627354		TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr1:27742572_27742573delTT	ENST00000430629.2	-	5	658_659	c.443_444delAA	c.(442-444)aaafs	p.K148fs	WASF2_ENST00000536657.1_Frame_Shift_Del_p.K148fs	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	148					actin cytoskeleton organization (GO:0030036)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of lamellipodium assembly (GO:0010592)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	actin binding (GO:0003779)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		CTGTGTAGAATTTGAGTGCCTC	0.441																																						ENST00000430629.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18						c.(442-444)afs		WAS protein family, member 2																																				SO:0001589	frameshift_variant	10163				actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger	actin cytoskeleton|lamellipodium	actin binding	g.chr1:27742572_27742573delTT	AB026542	CCDS304.1, CCDS55582.1	1p36.11	2011-05-10			ENSG00000158195	ENSG00000158195			12733	protein-coding gene	gene with protein product		605875				10381382	Standard	NM_006990		Approved	WAVE2, SCAR2	uc001bof.2	Q9Y6W5	OTTHUMG00000003393	ENST00000430629.2:c.443_444delAA	1.37:g.27742572_27742573delTT	ENSP00000396211:p.Lys148fs					WASF2_ENST00000536657.1_Frame_Shift_Del_p.K148fs	p.K148fs	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)	5	658_659	-		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	148					B4DZN0|O60794|Q9UDY7	Frame_Shift_Del	DEL	ENST00000430629.2	37	c.443_444delAA	CCDS304.1																																																																																				0.441	WASF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009516.1	NM_006990		18	92						18	92	---	---	---	---
IRF6	3664	broad.mit.edu	37	1	209963883	209963890	+	Frame_Shift_Del	DEL	TCTCTCAA	TCTCTCAA	-	rs375104318|rs121434231		TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr1:209963883_209963890delTCTCTCAA	ENST00000367021.3	-	7	1182_1189	c.1010_1017delTTGAGAGA	c.(1009-1017)attgagagafs	p.IER337fs	IRF6_ENST00000542854.1_Frame_Shift_Del_p.IER242fs|RP3-434O14.8_ENST00000430751.1_RNA	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	337					cell cycle arrest (GO:0007050)|cell development (GO:0048468)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		CCTTCTTTTGTCTCTCAATCAGGTTGGG	0.481										HNSCC(57;0.16)																												ENST00000367021.3																			0				cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28	GRCh37	CM081673	IRF6	M	rs121434231	c.(1009-1017)afs		interferon regulatory factor 6																																				SO:0001589	frameshift_variant	3664				cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:209963883_209963890delTCTCTCAA	AL022398	CCDS1492.1, CCDS55681.1	1q32.2-q32.3	2011-02-10			ENSG00000117595	ENSG00000117595			6121	protein-coding gene	gene with protein product		607199	"""Van der Woude syndrome"""	VWS, LPS		12219090	Standard	NM_006147		Approved	OFC6, VWS1	uc001hhq.2	O14896	OTTHUMG00000036521	ENST00000367021.3:c.1010_1017delTTGAGAGA	1.37:g.209963883_209963890delTCTCTCAA	ENSP00000355988:p.Ile337fs	HNSCC(57;0.16)				IRF6_ENST00000542854.1_Frame_Shift_Del_p.IER242fs	p.IER337fs	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0351)	7	1182_1189	-			337					B4DLE2|D3DT90|F5GWX8|G0ZTL0	Frame_Shift_Del	DEL	ENST00000367021.3	37	c.1010_1017delTTGAGAGA	CCDS1492.1																																																																																				0.481	IRF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088827.1	NM_006147		14	52						14	52	---	---	---	---
ANKAR	150709	broad.mit.edu	37	2	190541783	190541786	+	Frame_Shift_Del	DEL	AAAT	AAAT	-			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr2:190541783_190541786delAAAT	ENST00000520309.1	+	2	655_658	c.567_570delAAAT	c.(565-570)acaaatfs	p.TN189fs	ANKAR_ENST00000461516.1_Intron|ANKAR_ENST00000438402.2_Frame_Shift_Del_p.TN189fs|ANKAR_ENST00000281412.6_5'UTR|ANKAR_ENST00000431575.2_Frame_Shift_Del_p.TN118fs|ANKAR_ENST00000313581.4_Frame_Shift_Del_p.TN189fs	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	189						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			AACCTCAAACAAATAAAGACATTT	0.348																																						ENST00000520309.1																			0				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46						c.(565-570)acfs		ankyrin and armadillo repeat containing				0,4266		0,0,2133						5.5	1.0			24	2,8250		0,2,4124	no	frameshift	ANKAR	NM_144708.3		0,2,6257	A1A1,A1R,RR		0.0242,0.0,0.016				2,12516				SO:0001589	frameshift_variant	150709					integral to membrane	binding	g.chr2:190541783_190541786delAAAT	AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"""Ankyrin repeat domain containing"", ""Armadillo repeat containing"""	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.567_570delAAAT	2.37:g.190541783_190541786delAAAT	ENSP00000427882:p.Thr189fs					ANKAR_ENST00000313581.4_Frame_Shift_Del_p.TN189fs|ANKAR_ENST00000438402.2_Frame_Shift_Del_p.TN189fs|ANKAR_ENST00000281412.6_5'UTR|ANKAR_ENST00000431575.2_Frame_Shift_Del_p.TN118fs|ANKAR_ENST00000461516.1_Intron	p.TN189fs	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)		2	655_658	+			189					Q3ZCS6|Q4G0M2|Q6ZU02	Frame_Shift_Del	DEL	ENST00000520309.1	37	c.567_570delAAAT	CCDS33351.2																																																																																				0.348	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3	NM_144708		19	35						19	35	---	---	---	---
CCR3	1232	broad.mit.edu	37	3	46306948	46306948	+	Frame_Shift_Del	DEL	T	T	-			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr3:46306948delT	ENST00000357422.2	+	4	842	c.299delT	c.(298-300)gttfs	p.V100fs	CCR3_ENST00000395942.2_Frame_Shift_Del_p.V100fs|CCR3_ENST00000395940.2_Frame_Shift_Del_p.V100fs|CCR3_ENST00000545097.1_Frame_Shift_Del_p.V121fs|CCR3_ENST00000541018.1_Frame_Shift_Del_p.V100fs			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	100					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell proliferation (GO:0001938)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		CATAACTGGGTTTTTGGCCAT	0.488																																						ENST00000357422.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18						c.(298-300)gtfs		chemokine (C-C motif) receptor 3							181.0	175.0	177.0					3																	46306948		2203	4300	6503	SO:0001589	frameshift_variant	1232				cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane		g.chr3:46306948delT	AF247361	CCDS2738.1, CCDS54574.1	3p21.3	2012-08-08			ENSG00000183625	ENSG00000183625		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1604	protein-coding gene	gene with protein product		601268		CMKBR3			Standard	NM_178328		Approved	CC-CKR-3, CKR3, CD193	uc003cpk.2	P51677	OTTHUMG00000133484	ENST00000357422.2:c.299delT	3.37:g.46306948delT	ENSP00000350003:p.Val100fs					CCR3_ENST00000541018.1_Frame_Shift_Del_p.V100fs|CCR3_ENST00000395940.2_Frame_Shift_Del_p.V100fs|CCR3_ENST00000395942.2_Frame_Shift_Del_p.V100fs|CCR3_ENST00000545097.1_Frame_Shift_Del_p.V121fs	p.V100fs			P51677	CCR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)	4	842	+			100					B3KVQ1|F5GWL6|Q15748|Q2YDB9|Q86WD2|Q8TDP6|Q9ULY8	Frame_Shift_Del	DEL	ENST00000357422.2	37	c.299delT	CCDS2738.1																																																																																				0.488	CCR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257380.2			7	202						7	202	---	---	---	---
FAM86JP	100125556	broad.mit.edu	37	3	125642556	125642557	+	RNA	INS	-	-	C	rs373923595|rs112362688|rs60014637	byFrequency	TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr3:125642556_125642557insC	ENST00000485843.1	+	0	332					NR_024251.1				family with sequence similarity 86, member J, pseudogene																		ATCATCTCCCAGGCATCACAGG	0.579													|||unknown(NO_COVERAGE)	1259	0.251398	0.5719	0.1686	5008	,	,		19581	0.0982		0.1471	False		,,,				2504	0.1421					ENST00000485843.1																			0																																																			0							g.chr3:125642556_125642557insC			3q21.2	2012-06-28			ENSG00000171084	ENSG00000171084			44097	pseudogene	pseudogene							Standard	NR_024250		Approved		uc003eif.4		OTTHUMG00000159586		3.37:g.125642556_125642557insC								NR_024251.1						0	332	+									RNA	INS	ENST00000485843.1	37																																																																																						0.579	FAM86JP-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000356339.1	NR_024251		8	13						8	13	---	---	---	---
PIGG	54872	broad.mit.edu	37	4	494202	494203	+	Frame_Shift_Ins	INS	-	-	CCACGCTG			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr4:494202_494203insCCACGCTG	ENST00000453061.2	+	2	278_279	c.172_173insCCACGCTG	c.(172-174)accfs	p.-60fs	PIGG_ENST00000536264.1_5'UTR|PIGG_ENST00000509768.1_5'UTR|ZNF721_ENST00000511833.2_5'Flank|PIGG_ENST00000503111.1_5'UTR|PIGG_ENST00000502311.1_3'UTR|PIGG_ENST00000296306.7_5'UTR|PIGG_ENST00000383028.4_Frame_Shift_Ins_p.-60fs|PIGG_ENST00000504346.1_5'UTR|ZNF721_ENST00000338977.5_5'Flank|PIGG_ENST00000310340.5_Frame_Shift_Ins_p.-60fs	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G						C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CP2 mannose-ethanolamine phosphotransferase activity (GO:0051267)|phosphotransferase activity, for other substituted phosphate groups (GO:0016780)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						TTCTAACTGGACCACGCTGCCA	0.401																																						ENST00000453061.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						c.(172-174)cacfs		phosphatidylinositol glycan anchor biosynthesis, class G																																				SO:0001589	frameshift_variant	54872				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity	g.chr4:494202_494203insCCACGCTG		CCDS3336.1, CCDS46992.1, CCDS75080.1, CCDS75081.1, CCDS75082.1, CCDS75083.1	4p16.3	2013-02-26	2006-06-28		ENSG00000174227	ENSG00000174227		"""Phosphatidylinositol glycan anchor biosynthesis"""	25985	protein-coding gene	gene with protein product			"""phosphatidylinositol glycan, class G"""			15632136	Standard	XM_005272287		Approved	FLJ20265, GPI7, LAS21	uc003gak.4	Q5H8A4	OTTHUMG00000112457	ENST00000453061.2:c.173_180dupCCACGCTG	4.37:g.494203_494210dupCCACGCTG	ENSP00000415203:p.Leu60fs					PIGG_ENST00000536264.1_5'UTR|PIGG_ENST00000504346.1_5'UTR|PIGG_ENST00000509768.1_5'UTR|PIGG_ENST00000383028.4_Frame_Shift_Ins_p.H58fs|PIGG_ENST00000296306.7_5'UTR|PIGG_ENST00000310340.5_Frame_Shift_Ins_p.H58fs|PIGG_ENST00000503111.1_5'UTR|PIGG_ENST00000502311.1_3'UTR	p.H58fs	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN			2	278_279	+			58					B4DKC7|Q2TAK5|Q6UX31|Q7L5Y4|Q8N866|Q8NCC9|Q96SY9|Q9BVT7|Q9NXG5	Frame_Shift_Ins	INS	ENST00000453061.2	37	c.172_173insCCACGCTG	CCDS46992.1																																																																																				0.401	PIGG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357494.1	NM_017733		11	77						11	77	---	---	---	---
SMARCAD1	56916	broad.mit.edu	37	4	95200079	95200080	+	Splice_Site	INS	-	-	A			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr4:95200079_95200080insA	ENST00000354268.4	+	19	2369_2370		c.e19-1		SMARCAD1_ENST00000457823.2_Frame_Shift_Ins_p.E768fs|SMARCAD1_ENST00000509418.1_Splice_Site			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1						ATP-dependent chromatin remodeling (GO:0043044)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|chromosome separation (GO:0051304)|DNA double-strand break processing (GO:0000729)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|nucleotide metabolic process (GO:0009117)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|regulation of DNA recombination (GO:0000018)	heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		TTGAGTCACAGAAAAAAACACA	0.317																																						ENST00000457823.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(2302-2304)aaafs		SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1																																				SO:0001630	splice_region_variant	56916				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity	g.chr4:95200079_95200080insA	AB032948	CCDS3639.1, CCDS47101.1, CCDS58914.1	4q22-q23	2008-02-05			ENSG00000163104	ENSG00000163104			18398	protein-coding gene	gene with protein product		612761				11031099	Standard	NM_001128430		Approved	ETL1, DKFZP762K2015, KIAA1122, DKFZp762K2015	uc003htb.4	Q9H4L7	OTTHUMG00000130971	ENST00000354268.4:c.2297-1->A	4.37:g.95200086_95200086dupA						SMARCAD1_ENST00000354268.4_Splice_Site|SMARCAD1_ENST00000509418.1_Splice_Site	p.K768fs	NM_001128429.2|NM_020159.4	NP_001121901.1|NP_064544.2	Q9H4L7	SMRCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)	19	2577_2578	+			766					B7Z799|Q05D56|Q96SX1|Q9H017|Q9H860|Q9NPU9|Q9ULU7	Frame_Shift_Ins	INS	ENST00000354268.4	37	c.2302_2303insA	CCDS3639.1																																																																																				0.317	SMARCAD1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253583.1	NM_020159	Intron	17	33						17	33	---	---	---	---
CCDC132	55610	broad.mit.edu	37	7	92970865	92970866	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr7:92970865_92970866delAG	ENST00000305866.5	+	23	2313_2314	c.2185_2186delAG	c.(2185-2187)agafs	p.R729fs	CCDC132_ENST00000474412.1_3'UTR|CCDC132_ENST00000541136.1_Frame_Shift_Del_p.R540fs|CCDC132_ENST00000544910.1_Frame_Shift_Del_p.R699fs|CCDC132_ENST00000535481.1_Frame_Shift_Del_p.R449fs	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	729						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			GTTGGCAGAAAGAGTGGTAGCC	0.411																																						ENST00000544910.1																			0				endometrium(1)|large_intestine(2)|lung(5)	8						c.(2095-2097)afs		coiled-coil domain containing 132																																				SO:0001589	frameshift_variant	55610							g.chr7:92970865_92970866delAG	AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.2185_2186delAG	7.37:g.92970867_92970868delAG	ENSP00000307666:p.Arg729fs					CCDC132_ENST00000535481.1_Frame_Shift_Del_p.R449fs|CCDC132_ENST00000541136.1_Frame_Shift_Del_p.R540fs|CCDC132_ENST00000305866.5_Frame_Shift_Del_p.R729fs|CCDC132_ENST00000474412.1_3'UTR	p.R699fs	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		24	2315_2316	+	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		729					B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Frame_Shift_Del	DEL	ENST00000305866.5	37	c.2095_2096delAG	CCDS43617.1																																																																																				0.411	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1	NM_017667		22	78						22	78	---	---	---	---
KMT2C	58508	broad.mit.edu	37	7	151877140	151877140	+	Frame_Shift_Del	DEL	C	C	-			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr7:151877140delC	ENST00000262189.6	-	37	7439	c.7221delG	c.(7219-7221)gggfs	p.G2407fs	KMT2C_ENST00000355193.2_Frame_Shift_Del_p.G2407fs	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2407					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										AGTCCTGTGACCCCTTCTCCT	0.522																																						ENST00000355193.2																			0											c.(7219-7221)ggfs		lysine (K)-specific methyltransferase 2C							255.0	222.0	233.0					7																	151877140		2203	4300	6503	SO:0001589	frameshift_variant	58508							g.chr7:151877140delC	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.7221delG	7.37:g.151877140delC	ENSP00000262189:p.Gly2407fs					KMT2C_ENST00000262189.6_Frame_Shift_Del_p.G2407fs	p.G2407fs							37	7439	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Frame_Shift_Del	DEL	ENST00000262189.6	37	c.7221delG	CCDS5931.1																																																																																				0.522	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			57	230						57	230	---	---	---	---
ZNF658	26149	broad.mit.edu	37	9	40789482	40789483	+	Splice_Site	INS	-	-	A			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr9:40789482_40789483insA	ENST00000602553.1	-	2	94		c.e2-2		ZNF658_ENST00000377626.3_Intron|ZNF658_ENST00000441795.1_Splice_Site			Q5TYW1	ZN658_HUMAN	zinc finger protein 658						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(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TTCATGTGCCTAAAAAAAAAAA	0.426																																						ENST00000602553.1																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46						c.e2-2		zinc finger protein 658																																				SO:0001630	splice_region_variant	26149				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:40789482_40789483insA	AA482262	CCDS75846.1	9p13.1	2013-01-08			ENSG00000196409	ENSG00000274349		"""Zinc fingers, C2H2-type"", ""-"""	25226	protein-coding gene	gene with protein product							Standard	NM_033160		Approved	MGC35232, DKFZp572C163, FLJ32813	uc004abs.2	Q5TYW1	OTTHUMG00000013392	ENST00000602553.1:c.201-2->T	9.37:g.40789493_40789493dupA						ZNF658_ENST00000377626.3_Intron|ZNF658_ENST00000441795.1_Splice_Site				Q5TYW1	ZN658_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	2	94	-								Q6PIP3|Q96M55|Q9H9S6|Q9UG02	Splice_Site	INS	ENST00000602553.1	37		CCDS35023.1																																																																																				0.426	ZNF658-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467800.1	NM_033160	Intron	2	4						2	4	---	---	---	---
CDK12	51755	broad.mit.edu	37	17	37627854	37627855	+	Frame_Shift_Ins	INS	-	-	A			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr17:37627854_37627855insA	ENST00000447079.4	+	2	1802_1803	c.1769_1770insA	c.(1768-1773)tcaaagfs	p.SK590fs	CDK12_ENST00000430627.2_Frame_Shift_Ins_p.SK590fs	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	590					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						TCTACTCACTCAAAGACATCTG	0.485			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																												ENST00000447079.4				Rec	yes		17	17q12	51755	"""Mis, N, F"""	cyclin-dependent kinase 12			E			serous ovarian		0				NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						c.(1768-1770)taafs		cyclin-dependent kinase 12																																				SO:0001589	frameshift_variant	51755				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr17:37627854_37627855insA	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.1772dupA	17.37:g.37627857_37627857dupA	ENSP00000398880:p.Ser590fs	TCGA Ovarian(9;0.13)				CDK12_ENST00000430627.2_Frame_Shift_Ins_p.*590fs	p.*590fs	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN			2	1802_1803	+			590					A7E2B2|B4DYX4|B9EIQ6|O94978	Frame_Shift_Ins	INS	ENST00000447079.4	37	c.1769_1770insA	CCDS11337.1																																																																																				0.485	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		58	120						58	120	---	---	---	---
KDM4B	23030	broad.mit.edu	37	19	5040011	5040012	+	Frame_Shift_Ins	INS	-	-	A			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr19:5040011_5040012insA	ENST00000159111.4	+	4	524_525	c.306_307insA	c.(307-309)aacfs	p.N103fs	KDM4B_ENST00000536461.1_Frame_Shift_Ins_p.N103fs|KDM4B_ENST00000381759.4_Frame_Shift_Ins_p.N103fs	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	103					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GCCGCCTGGCCAACAGCGAGAA	0.693																																						ENST00000159111.4																			0				breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(304-309)gcacagfs		lysine (K)-specific demethylase 4B																																				SO:0001589	frameshift_variant	23030				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr19:5040011_5040012insA	AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	29136	protein-coding gene	gene with protein product	"""tudor domain containing 14B"""	609765	"""jumonji domain containing 2B"""	JMJD2B		10048485, 15138608	Standard	NM_015015		Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		ENST00000159111.4:c.308dupA	19.37:g.5040013_5040013dupA	ENSP00000159111:p.Asn103fs					KDM4B_ENST00000381759.4_Frame_Shift_Ins_p.Q103fs|KDM4B_ENST00000536461.1_Frame_Shift_Ins_p.Q103fs	p.Q103fs	NM_015015.2	NP_055830.1	O94953	KDM4B_HUMAN			4	524_525	+			103					B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Frame_Shift_Ins	INS	ENST00000159111.4	37	c.306_307insA	CCDS12138.1																																																																																				0.693	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450558.1	NM_015015		13	38						13	38	---	---	---	---
CLASRP	11129	broad.mit.edu	37	19	45567607	45567609	+	In_Frame_Del	DEL	CTC	CTC	-	rs559550271		TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chr19:45567607_45567609delCTC	ENST00000221455.3	+	13	1226_1228	c.1128_1130delCTC	c.(1126-1131)cgctcc>cgc	p.S385del	CLASRP_ENST00000391953.4_In_Frame_Del_p.S323del|CLASRP_ENST00000544944.2_In_Frame_Del_p.S385del	NM_007056.2	NP_008987	Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	385	Arg-rich.|Ser-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						GCAGCCGCCGctcctcctcctcc	0.744																																						ENST00000544944.2																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						c.(1126-1131)cgc>cg		CLK4-associating serine/arginine rich protein				8,94,3280		1,0,6,8,78,1598						4.4	1.0			5	17,209,6522		2,0,13,25,159,3175	no	codingComplex	CLASRP	NM_007056.2		3,0,19,33,237,4773	A1A1,A1A2,A1R,A2A2,A2R,RR		3.3491,3.016,3.2379				25,303,9802				SO:0001651	inframe_deletion	11129				mRNA processing|RNA splicing	nucleus		g.chr19:45567607_45567609delCTC	AF042800	CCDS12652.2, CCDS62710.1	19q13.3	2010-09-21	2010-09-21	2010-09-21	ENSG00000104859	ENSG00000104859			17731	protein-coding gene	gene with protein product	"""Clk4 associating SR-related protein"""		"""splicing factor, arginine/serine-rich 16"""	SFRS16		12169693	Standard	NM_007056		Approved	SWAP2, CLASP	uc002pak.3	Q8N2M8	OTTHUMG00000150189	ENST00000221455.3:c.1128_1130delCTC	19.37:g.45567616_45567618delCTC	ENSP00000221455:p.Ser385del					CLASRP_ENST00000391953.4_In_Frame_Del_p.RS314del|CLASRP_ENST00000221455.3_In_Frame_Del_p.RS376del	p.RS376del			Q8N2M8	CLASR_HUMAN			12	1820_1822	+			376			Arg-rich.		B4DDT8|F8WAG9|O96026|Q6UW71|Q96DX2	In_Frame_Del	DEL	ENST00000221455.3	37	c.1128_1130delCTC	CCDS12652.2																																																																																				0.744	CLASRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316749.1	NM_007056		2	4						2	4	---	---	---	---
SHROOM4	57477	broad.mit.edu	37	X	50345633	50345634	+	Splice_Site	INS	-	-	T			TCGA-ZG-A9KY-01A-11D-A41K-08	TCGA-ZG-A9KY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aeba7a2-387f-41b0-ba7d-24d6c0c96b22	caacdc42-537a-470f-b215-c0727d083e42	g.chrX:50345633_50345634insT	ENST00000289292.7	-	7	4224_4225	c.3941_3942insA	c.(3940-3942)aag>aaAg	p.K1314fs	SHROOM4_ENST00000460112.3_Splice_Site_p.K1198fs|SHROOM4_ENST00000376020.2_Splice_Site_p.K1314fs			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1314	ASD2. {ECO:0000255|PROSITE- ProRule:PRU00638}.				actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)	p.K1314fs*23(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					AAAACTTTACCTTTTTTTGAGC	0.45																																						ENST00000376020.2																			1	Deletion - Frameshift(1)	p.K1314fs*23(1)	large_intestine(1)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52						c.e7+1		shroom family member 4																																				SO:0001630	splice_region_variant	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50345633_50345634insT	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.3942+1->A	X.37:g.50345640_50345640dupT						SHROOM4_ENST00000460112.3_Splice_Site_p.N1198_splice|SHROOM4_ENST00000289292.7_Splice_Site_p.N1314_splice	p.N1314_splice	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN			7	3966_3967	-	Ovarian(276;0.236)		1314			ASD2.		A7E2X9|D6RFW0|Q96LA0	Splice_Site	INS	ENST00000289292.7	37	c.3942_splice	CCDS35277.1																																																																																				0.450	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717	Frame_Shift_Ins	32	23						32	23	---	---	---	---
