#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
ATG4A	115201	broad.mit.edu	37	X	107396937	107396937	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chrX:107396937G>A	ENST00000372232.3	+	13	1351	c.1192G>A	c.(1192-1194)Gtg>Atg	p.V398M	ATG4A_ENST00000545696.1_Missense_Mutation_p.V259M|ATG4A_ENST00000489247.1_3'UTR|COL4A6_ENST00000418180.1_Intron|ATG4A_ENST00000345734.3_Missense_Mutation_p.V336M|ATG4A_ENST00000372254.3_Missense_Mutation_p.V374M	NM_052936.3	NP_443168.2	Q8WYN0	ATG4A_HUMAN	autophagy related 4A, cysteine peptidase	398					autophagy (GO:0006914)|protein transport (GO:0015031)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	cysteine-type peptidase activity (GO:0008234)			endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)	11						GATTCTGAGTGTGTAGAATCC	0.393																																						ENST00000372232.3																			0				endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)	11						c.(1192-1194)Gtg>Atg		autophagy related 4A, cysteine peptidase							148.0	140.0	143.0					X																	107396937		2203	4300	6503	SO:0001583	missense	115201				autophagy|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity	g.chrX:107396937G>A	AJ320508	CCDS14538.1, CCDS14539.1	Xq22.1-q22.3	2014-02-12	2012-06-06	2005-09-11	ENSG00000101844	ENSG00000101844			16489	protein-coding gene	gene with protein product		300663	"""AUT-like 2, cysteine endopeptidase (S. cerevisiae)"", ""APG4 autophagy 4 homolog A (S. cerevisiae)"", ""ATG4 autophagy related 4 homolog A (S. cerevisiae)"""	AUTL2, APG4A		12446702, 12473658	Standard	NM_052936		Approved		uc004enr.3	Q8WYN0	OTTHUMG00000022176	ENST00000372232.3:c.1192G>A	X.37:g.107396937G>A	ENSP00000361306:p.Val398Met					ATG4A_ENST00000545696.1_Missense_Mutation_p.V259M|ATG4A_ENST00000489247.1_3'UTR|ATG4A_ENST00000372254.3_Missense_Mutation_p.V374M|COL4A6_ENST00000418180.1_Intron|ATG4A_ENST00000345734.3_Missense_Mutation_p.V336M	p.V398M	NM_052936.3	NP_443168.2	Q8WYN0	ATG4A_HUMAN			13	1351	+			398					A6NCH2|B2RAZ7|D3DUY0|O95534|Q5JYY9|Q5JYZ0|Q86VE5|Q96KQ0|Q96KQ1	Missense_Mutation	SNP	ENST00000372232.3	37	c.1192G>A	CCDS14538.1	.	.	.	.	.	.	.	.	.	.	G	11.49	1.655520	0.29425	.	.	ENSG00000101844	ENST00000372232;ENST00000345734;ENST00000372254;ENST00000545696	T;T;T;T	0.51325	0.71;0.71;0.73;0.73	6.08	1.61	0.23674	.	0.275715	0.34652	N	0.003797	T	0.29652	0.0740	N	0.12182	0.205	0.29053	N	0.884376	B;B;B	0.25441	0.126;0.126;0.014	B;B;B	0.30646	0.118;0.118;0.014	T	0.22312	-1.0220	10	0.39692	T	0.17	-3.027	11.4259	0.50009	0.29:0.0:0.71:0.0	.	259;336;398	F5H3G3;Q8WYN0-2;Q8WYN0	.;.;ATG4A_HUMAN	M	398;336;374;259	ENSP00000361306:V398M;ENSP00000298131:V336M;ENSP00000361328:V374M;ENSP00000438936:V259M	ENSP00000298131:V336M	V	+	1	0	ATG4A	107283593	0.997000	0.39634	0.051000	0.19133	0.960000	0.62799	1.883000	0.39658	0.229000	0.21039	0.600000	0.82982	GTG		0.393	ATG4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057860.1	NM_052936		6	69	0	0	0	1	0	6	69				
ZNF681	148213	broad.mit.edu	37	19	23927307	23927307	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr19:23927307G>T	ENST00000402377.3	-	4	1186	c.1045C>A	c.(1045-1047)Cag>Aag	p.Q349K	ZNF681_ENST00000395385.3_Missense_Mutation_p.Q280K	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	349					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TGTGAGGACTGGTTAAAGGCT	0.433																																						ENST00000402377.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21						c.(1045-1047)Cag>Aag		zinc finger protein 681							83.0	86.0	85.0					19																	23927307		2203	4300	6503	SO:0001583	missense	148213				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:23927307G>T	AK056088	CCDS12414.2	19p12	2013-01-08			ENSG00000196172	ENSG00000196172		"""Zinc fingers, C2H2-type"", ""-"""	26457	protein-coding gene	gene with protein product	"""hypothetical protein FLJ31526"""						Standard	NM_138286		Approved	FLJ31526	uc002nrk.4	Q96N22	OTTHUMG00000150831	ENST00000402377.3:c.1045C>A	19.37:g.23927307G>T	ENSP00000384000:p.Gln349Lys					ZNF681_ENST00000395385.3_Missense_Mutation_p.Q280K	p.Q349K	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN			4	1186	-		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)	349					B3KVF7	Missense_Mutation	SNP	ENST00000402377.3	37	c.1045C>A	CCDS12414.2	.	.	.	.	.	.	.	.	.	.	.	2.396	-0.338635	0.05243	.	.	ENSG00000196172	ENST00000402377;ENST00000395385	T;T	0.07327	5.32;3.2	0.738	-1.48	0.08745	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04272	0.0118	L	0.33792	1.035	0.09310	N	1	P	0.35872	0.525	B	0.23574	0.047	T	0.33752	-0.9856	9	0.35671	T	0.21	.	2.7116	0.05176	0.2276:0.0:0.5047:0.2676	.	349	Q96N22	ZN681_HUMAN	K	349;280	ENSP00000384000:Q349K;ENSP00000378783:Q280K	ENSP00000378783:Q280K	Q	-	1	0	ZNF681	23719147	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.081000	0.01367	-0.924000	0.03780	-0.518000	0.04402	CAG		0.433	ZNF681-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320248.2	NM_138286		3	97	1	0	0.00909568	1	0.00959181	3	97				
CACNA2D4	93589	broad.mit.edu	37	12	2022195	2022195	+	Silent	SNP	C	C	T	rs182825786		TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr12:2022195C>T	ENST00000382722.5	-	3	782	c.420G>A	c.(418-420)gcG>gcA	p.A140A	CACNA2D4_ENST00000585732.1_Silent_p.A140A|CACNA2D4_ENST00000585708.1_Silent_p.A76A|CACNA2D4_ENST00000587995.1_Silent_p.A140A|CACNA2D4_ENST00000586184.1_Silent_p.A140A|CACNA2D4_ENST00000588077.1_Silent_p.A76A	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	140					calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GTACCTGGACCGCCTCGACTT	0.597																																					Colon(2;101 179 21030 23310 28141)	ENST00000382722.5																			0				endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(418-420)gcG>gcA		calcium channel, voltage-dependent, alpha 2/delta subunit 4							103.0	120.0	114.0					12																	2022195		2133	4246	6379	SO:0001819	synonymous_variant	93589					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr12:2022195C>T	AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"""Calcium channel subunits"""	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.420G>A	12.37:g.2022195C>T						CACNA2D4_ENST00000585708.1_Silent_p.A76A|CACNA2D4_ENST00000587995.1_Silent_p.A140A|CACNA2D4_ENST00000588077.1_Silent_p.A76A|CACNA2D4_ENST00000585732.1_Silent_p.A140A|CACNA2D4_ENST00000586184.1_Silent_p.A140A	p.A140A	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)	3	782	-	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	140					Q7Z3S8|Q86XZ5|Q8IZS9	Silent	SNP	ENST00000382722.5	37	c.420G>A	CCDS44785.1																																																																																				0.597	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398230.2			8	30	0	0	0	1	0	8	30				
ZNF485	220992	broad.mit.edu	37	10	44112021	44112021	+	Missense_Mutation	SNP	A	A	G	rs372395438	byFrequency	TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr10:44112021A>G	ENST00000361807.3	+	5	724	c.530A>G	c.(529-531)cAt>cGt	p.H177R	ZNF485_ENST00000374435.3_Missense_Mutation_p.H177R|ZNF485_ENST00000374437.2_Missense_Mutation_p.H86R	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	177					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						TTAAATCACCATAAGGTTCAT	0.393													A|||	2	0.000399361	0.0015	0.0	5008	,	,		21066	0.0		0.0	False		,,,				2504	0.0					ENST00000361807.3																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						c.(529-531)cAt>cGt		zinc finger protein 485		A	ARG/HIS	0,4406		0,0,2203	106.0	103.0	104.0		530	-1.5	0.1	10		104	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF485	NM_145312.3	29	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign	177/442	44112021	1,13005	2203	4300	6503	SO:0001583	missense	220992				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:44112021A>G	AK074679	CCDS7205.2	10q11.21	2013-01-08			ENSG00000198298	ENSG00000198298		"""Zinc fingers, C2H2-type"", ""-"""	23440	protein-coding gene	gene with protein product							Standard	NM_145312		Approved		uc010qfc.2	Q8NCK3	OTTHUMG00000018040	ENST00000361807.3:c.530A>G	10.37:g.44112021A>G	ENSP00000354694:p.His177Arg					ZNF485_ENST00000374435.3_Missense_Mutation_p.H177R|ZNF485_ENST00000374437.2_Missense_Mutation_p.H86R	p.H177R	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN			5	724	+			177					B4DSE6|Q96CL0	Missense_Mutation	SNP	ENST00000361807.3	37	c.530A>G	CCDS7205.2	.	.	.	.	.	.	.	.	.	.	A	2.554	-0.303305	0.05495	0.0	1.16E-4	ENSG00000198298	ENST00000361807;ENST00000374437;ENST00000374435	T;T;T	0.07114	3.22;3.22;3.22	2.52	-1.52	0.08637	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02649	0.0080	N	0.02142	-0.665	0.09310	N	0.999999	B	0.02656	0.0	B	0.15052	0.012	T	0.41556	-0.9502	9	0.46703	T	0.11	.	3.0456	0.06152	0.5725:0.0:0.2434:0.1841	.	177	Q8NCK3	ZN485_HUMAN	R	177;86;177	ENSP00000354694:H177R;ENSP00000363560:H86R;ENSP00000363558:H177R	ENSP00000354694:H177R	H	+	2	0	ZNF485	43432027	0.000000	0.05858	0.134000	0.22075	0.075000	0.17131	-0.565000	0.05929	-0.363000	0.08101	-0.609000	0.04063	CAT		0.393	ZNF485-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047719.2	NM_145312		18	84	0	0	0	1	0	18	84				
HECTD3	79654	broad.mit.edu	37	1	45472380	45472380	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr1:45472380A>C	ENST00000372172.4	-	13	1780	c.1709T>G	c.(1708-1710)gTa>gGa	p.V570G	HECTD3_ENST00000486132.1_5'Flank|HECTD3_ENST00000372168.3_Missense_Mutation_p.V180G	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3	570	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					GGCTGTGCGTACAAAGAAGGG	0.572																																						ENST00000372172.4																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28						c.(1708-1710)gTa>gGa		HECT domain containing E3 ubiquitin protein ligase 3							66.0	70.0	69.0					1																	45472380		1969	4133	6102	SO:0001583	missense	79654				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	ubiquitin-protein ligase activity	g.chr1:45472380A>C	BC019105	CCDS41318.1	1p34.1	2012-02-23	2012-02-23		ENSG00000126107	ENSG00000126107			26117	protein-coding gene	gene with protein product			"""HECT domain containing 3"""			12477932	Standard	NM_024602		Approved	FLJ21156	uc009vxk.3	Q5T447	OTTHUMG00000008587	ENST00000372172.4:c.1709T>G	1.37:g.45472380A>C	ENSP00000361245:p.Val570Gly					HECTD3_ENST00000372168.3_Missense_Mutation_p.V180G	p.V570G	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN			13	1780	-	Acute lymphoblastic leukemia(166;0.155)		570			HECT.		B3KPV7|B3KRH4|Q5T448|Q9H783	Missense_Mutation	SNP	ENST00000372172.4	37	c.1709T>G	CCDS41318.1	.	.	.	.	.	.	.	.	.	.	.	15.10	2.734106	0.48939	.	.	ENSG00000126107	ENST00000372172;ENST00000372168	T;T	0.61510	0.1;0.39	5.3	5.3	0.74995	HECT (3);	0.420057	0.26975	N	0.021556	T	0.58991	0.2161	M	0.71581	2.175	0.58432	D	0.999995	B;P	0.38078	0.44;0.617	B;B	0.36504	0.196;0.226	T	0.66228	-0.5976	10	0.87932	D	0	.	15.4114	0.74923	1.0:0.0:0.0:0.0	.	570;180	Q5T447;Q5T447-2	HECD3_HUMAN;.	G	570;180	ENSP00000361245:V570G;ENSP00000361241:V180G	ENSP00000361241:V180G	V	-	2	0	HECTD3	45244967	0.993000	0.37304	1.000000	0.80357	0.993000	0.82548	2.811000	0.47986	2.220000	0.72140	0.533000	0.62120	GTA		0.572	HECTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023734.1	NM_024602		12	84	0	0	0	1	0	12	84				
RB1	5925	broad.mit.edu	37	13	48941653	48941653	+	Silent	SNP	C	C	T	rs377235036		TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr13:48941653C>T	ENST00000267163.4	+	10	1101	c.963C>T	c.(961-963)taC>taT	p.Y321Y		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	321					androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(7)|p.Y321*(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CTAAACGATACGAAGAAATTT	0.318		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												ENST00000267163.4		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	"""D, Mis, N, F, S"""	retinoblastoma gene			"""L, E, M, O"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""		23	Whole gene deletion(15)|Unknown(7)|Substitution - Nonsense(1)	p.0?(15)|p.?(7)|p.Y321*(1)	bone(11)|breast(5)|adrenal_gland(1)|eye(1)|soft_tissue(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)|lung(1)	NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496	GRCh37	CM034899	RB1	M		c.(961-963)taC>taT		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	C		1,4389	2.1+/-5.4	0,1,2194	55.0	66.0	63.0		963	1.5	1.0	13		63	0,8568		0,0,4284	no	coding-synonymous	RB1	NM_000321.2		0,1,6478	TT,TC,CC		0.0,0.0228,0.0077		321/929	48941653	1,12957	2195	4284	6479	SO:0001819	synonymous_variant	5925	Hereditary Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48941653C>T	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.963C>T	13.37:g.48941653C>T		TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.Y321Y	NM_000321.2	NP_000312.2	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	10	1101	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	321					A8K5E3|P78499|Q5VW46|Q8IZL4	Silent	SNP	ENST00000267163.4	37	c.963C>T	CCDS31973.1																																																																																				0.318	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			15	60	0	0	0	1	0	15	60				
HNRNPF	3185	broad.mit.edu	37	10	43882502	43882502	+	Silent	SNP	G	G	A	rs566452971		TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr10:43882502G>A	ENST00000544000.1	-	4	1238	c.831C>T	c.(829-831)ggC>ggT	p.G277G	HNRNPF_ENST00000356053.3_Silent_p.G277G|HNRNPF_ENST00000337970.3_Silent_p.G277G|HNRNPF_ENST00000443950.2_Silent_p.G277G|HNRNPF_ENST00000498176.1_5'Flank|HNRNPF_ENST00000357065.4_Silent_p.G277G	NM_001098207.1	NP_001091677.1	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	277					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						ACTCACTGTCGCCGTATCTGT	0.552													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18509	0.0		0.0	False		,,,				2504	0.0					ENST00000443950.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						c.(829-831)ggC>ggT		heterogeneous nuclear ribonucleoprotein F							58.0	51.0	53.0					10																	43882502		2203	4300	6503	SO:0001819	synonymous_variant	3185				regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:43882502G>A		CCDS7204.1	10q11.21	2013-02-12		2008-04-18	ENSG00000169813	ENSG00000169813		"""RNA binding motif (RRM) containing"""	5039	protein-coding gene	gene with protein product		601037		HNRPF		7499401	Standard	NM_001098208		Approved		uc001jas.2	P52597	OTTHUMG00000018029	ENST00000544000.1:c.831C>T	10.37:g.43882502G>A						HNRNPF_ENST00000357065.4_Silent_p.G277G|HNRNPF_ENST00000337970.3_Silent_p.G277G|HNRNPF_ENST00000544000.1_Silent_p.G277G|HNRNPF_ENST00000356053.3_Silent_p.G277G	p.G277G	NM_001098208.1	NP_001091678.1	P52597	HNRPF_HUMAN			3	1317	-			277					B3KM84|Q5T0N2|Q96AU2	Silent	SNP	ENST00000544000.1	37	c.831C>T	CCDS7204.1																																																																																				0.552	HNRNPF-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047705.2			9	26	0	0	0	1	0	9	26				
JPH1	56704	broad.mit.edu	37	8	75233375	75233375	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr8:75233375C>A	ENST00000342232.4	-	1	188	c.148G>T	c.(148-150)Gga>Tga	p.G50*	GDAP1_ENST00000521096.1_3'UTR	NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	50	Gly-rich.				calcium ion transport into cytosol (GO:0060402)|muscle organ development (GO:0007517)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			GTGTAGCCTCCGACCACCTCG	0.701																																						ENST00000342232.4																			0				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24						c.(148-150)Gga>Tga		junctophilin 1							58.0	45.0	49.0					8																	75233375		2203	4299	6502	SO:0001587	stop_gained	56704				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr8:75233375C>A	AB042634	CCDS6217.1	8q21	2008-07-03			ENSG00000104369	ENSG00000104369			14201	protein-coding gene	gene with protein product		605266				10891348, 10949023	Standard	XM_005251273		Approved	JP-1	uc003yae.3	Q9HDC5	OTTHUMG00000164524	ENST00000342232.4:c.148G>T	8.37:g.75233375C>A	ENSP00000344488:p.Gly50*					GDAP1_ENST00000521096.1_3'UTR	p.G50*	NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)		1	188	-	Breast(64;0.00576)		50			Gly-rich.		B2RTZ0	Nonsense_Mutation	SNP	ENST00000342232.4	37	c.148G>T	CCDS6217.1	.	.	.	.	.	.	.	.	.	.	C	38	7.023247	0.98010	.	.	ENSG00000104369	ENST00000342232	.	.	.	3.83	3.83	0.44106	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.5307	0.75960	0.0:1.0:0.0:0.0	.	.	.	.	X	50	.	ENSP00000344488:G50X	G	-	1	0	JPH1	75395930	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.412000	0.80091	1.963000	0.57068	0.407000	0.27541	GGA		0.701	JPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379102.1			5	37	1	0	0.184627	1	0.191221	5	37				
GLDC	2731	broad.mit.edu	37	9	6540103	6540103	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr9:6540103T>G	ENST00000321612.6	-	22	2763	c.2613A>C	c.(2611-2613)aaA>aaC	p.K871N	RN7SL25P_ENST00000583862.1_RNA	NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	871					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|glycine dehydrogenase (decarboxylating) activity (GO:0004375)|lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)	TTGCAGACTTTTTGAAGGGTC	0.453																																						ENST00000321612.6																			0				cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(2611-2613)aaA>aaC		glycine dehydrogenase (decarboxylating)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)						135.0	116.0	123.0					9																	6540103		2203	4300	6503	SO:0001583	missense	2731				glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding	g.chr9:6540103T>G	D90239	CCDS34987.1	9p22	2014-09-17	2006-05-22		ENSG00000178445	ENSG00000178445	1.4.4.2		4313	protein-coding gene	gene with protein product	"""glycine cleavage system protein P"", ""glycine decarboxylase"""	238300	"""glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein P)"""			1993704, 1996985	Standard	NM_000170		Approved	GCSP, NKH	uc003zkc.3	P23378	OTTHUMG00000019524	ENST00000321612.6:c.2613A>C	9.37:g.6540103T>G	ENSP00000370737:p.Lys871Asn						p.K871N	NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	22	2763	-		Acute lymphoblastic leukemia(23;0.161)	871					Q2M2F8	Missense_Mutation	SNP	ENST00000321612.6	37	c.2613A>C	CCDS34987.1	.	.	.	.	.	.	.	.	.	.	T	18.03	3.532829	0.64972	.	.	ENSG00000178445	ENST00000321612	D	0.86366	-2.11	5.16	1.47	0.22746	Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.94262	0.8157	H	0.96518	3.835	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	D	0.92733	0.6201	10	0.66056	D	0.02	-20.0689	8.5626	0.33520	0.0:0.3814:0.0:0.6186	.	871	P23378	GCSP_HUMAN	N	871	ENSP00000370737:K871N	ENSP00000370737:K871N	K	-	3	2	GLDC	6530103	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	0.504000	0.22626	0.348000	0.23949	0.482000	0.46254	AAA		0.453	GLDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051674.2	NM_000170		26	93	0	0	0	1	0	26	93				
LPHN3	23284	broad.mit.edu	37	4	62679557	62679557	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr4:62679557T>A	ENST00000514591.1	+	8	1555	c.1226T>A	c.(1225-1227)aTt>aAt	p.I409N	LPHN3_ENST00000545650.1_Missense_Mutation_p.I409N|LPHN3_ENST00000504896.1_Missense_Mutation_p.I409N|LPHN3_ENST00000508946.1_Missense_Mutation_p.I409N|LPHN3_ENST00000514996.1_Missense_Mutation_p.I409N|LPHN3_ENST00000506720.1_Missense_Mutation_p.I477N|LPHN3_ENST00000509896.1_Missense_Mutation_p.I477N|LPHN3_ENST00000507625.1_Missense_Mutation_p.I477N|LPHN3_ENST00000506746.1_Missense_Mutation_p.I477N|LPHN3_ENST00000514157.1_Missense_Mutation_p.I409N|LPHN3_ENST00000512091.2_Missense_Mutation_p.I409N|LPHN3_ENST00000507164.1_Missense_Mutation_p.I477N|LPHN3_ENST00000506700.1_Missense_Mutation_p.I409N|LPHN3_ENST00000508693.1_Missense_Mutation_p.I477N|LPHN3_ENST00000511324.1_Missense_Mutation_p.I477N			Q9HAR2	LPHN3_HUMAN	latrophilin 3	409					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						gtttcatacatttctccgcca	0.363																																						ENST00000512091.1																			0				breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						c.(1225-1227)aTt>aAt		latrophilin 3							128.0	120.0	122.0					4																	62679557		1936	4143	6079	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62679557T>A	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.1226T>A	4.37:g.62679557T>A	ENSP00000422533:p.Ile409Asn					LPHN3_ENST00000506700.1_Missense_Mutation_p.I409N|LPHN3_ENST00000511324.1_Missense_Mutation_p.I477N|LPHN3_ENST00000506720.1_Missense_Mutation_p.I477N|LPHN3_ENST00000507164.1_Missense_Mutation_p.I477N|LPHN3_ENST00000545650.1_Missense_Mutation_p.I409N|LPHN3_ENST00000506746.1_Missense_Mutation_p.I477N|LPHN3_ENST00000509896.1_Missense_Mutation_p.I477N|LPHN3_ENST00000514996.1_Missense_Mutation_p.I409N|LPHN3_ENST00000514157.1_Missense_Mutation_p.I409N|LPHN3_ENST00000508946.1_Missense_Mutation_p.I409N|LPHN3_ENST00000504896.1_Missense_Mutation_p.I409N|LPHN3_ENST00000507625.1_Missense_Mutation_p.I477N|LPHN3_ENST00000508693.1_Missense_Mutation_p.I477N|LPHN3_ENST00000514591.1_Missense_Mutation_p.I409N	p.I409N			Q9HAR2	LPHN3_HUMAN			8	1973	+			409					E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.1226T>A	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	T	12.24	1.877518	0.33162	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000534975;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.70399	-0.45;-0.45;-0.48;-0.48;-0.45;-0.45;-0.48;-0.48;-0.47;-0.44;-0.44;-0.43;-0.46;-0.46;-0.43	3.67	3.67	0.42095	.	0.534833	0.19481	N	0.113211	T	0.50531	0.1621	N	0.19112	0.55	0.31286	N	0.690009	B;B	0.34147	0.438;0.171	B;B	0.29862	0.108;0.048	T	0.55995	-0.8052	10	0.33141	T	0.24	.	9.0114	0.36144	0.0:0.0:0.0:1.0	.	409;409	E9PE04;Q9HAR2-2	.;.	N	409;409;477;477;409;409;409;409;409;477;477;477;409;409;409;477;477;409	ENSP00000423388:I409N;ENSP00000422533:I409N;ENSP00000423787:I477N;ENSP00000425033:I477N;ENSP00000424120:I409N;ENSP00000439831:I409N;ENSP00000421476:I477N;ENSP00000424030:I477N;ENSP00000421372:I477N;ENSP00000425201:I409N;ENSP00000423434:I409N;ENSP00000421627:I409N;ENSP00000420931:I477N;ENSP00000425884:I477N;ENSP00000424258:I409N	ENSP00000280009:I409N	I	+	2	0	LPHN3	62362152	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	2.916000	0.48813	1.900000	0.55004	0.460000	0.39030	ATT		0.363	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			10	39	0	0	0	1	0	10	39				
JPH4	84502	broad.mit.edu	37	14	24040525	24040525	+	Missense_Mutation	SNP	C	C	T	rs374663076		TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr14:24040525C>T	ENST00000397118.3	-	6	2317	c.1415G>A	c.(1414-1416)cGa>cAa	p.R472Q	JPH4_ENST00000544177.1_Missense_Mutation_p.R137Q|JPH4_ENST00000356300.4_Missense_Mutation_p.R472Q	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	472					calcium ion transport into cytosol (GO:0060402)|learning (GO:0007612)|neuromuscular process controlling balance (GO:0050885)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic plasticity (GO:0048167)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		GGCAGGGGGTCGCCAGGGTTG	0.682																																						ENST00000397118.3																			0				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1414-1416)cGa>cAa		junctophilin 4		C	GLN/ARG,GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	33.0	38.0	37.0		1415,1415	4.2	1.0	14		37	0,8600		0,0,4300	no	missense,missense	JPH4	NM_001146028.1,NM_032452.2	43,43	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging,probably-damaging	472/629,472/629	24040525	2,13004	2203	4300	6503	SO:0001583	missense	84502				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane		g.chr14:24040525C>T	AB058734	CCDS9603.1	14q11	2004-05-28	2004-05-28	2004-05-28	ENSG00000092051	ENSG00000092051			20156	protein-coding gene	gene with protein product			"""junctophilin like 1"""	JPHL1		11347906	Standard	NM_032452		Approved	KIAA1831	uc001wkr.2	Q96JJ6	OTTHUMG00000028769	ENST00000397118.3:c.1415G>A	14.37:g.24040525C>T	ENSP00000380307:p.Arg472Gln					JPH4_ENST00000544177.1_Missense_Mutation_p.R137Q|JPH4_ENST00000356300.4_Missense_Mutation_p.R472Q	p.R472Q	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN		GBM - Glioblastoma multiforme(265;0.00654)	6	2317	-	all_cancers(95;0.000251)		472					D3DS53|Q8ND44|Q96DQ0	Missense_Mutation	SNP	ENST00000397118.3	37	c.1415G>A	CCDS9603.1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.515903	0.44763	4.54E-4	0.0	ENSG00000092051	ENST00000356300;ENST00000397118;ENST00000543864;ENST00000267407;ENST00000544177	T;T;T	0.57107	0.42;0.42;0.76	5.17	4.23	0.50019	.	0.687587	0.10286	U	0.692970	T	0.41558	0.1164	N	0.14661	0.345	0.27518	N	0.95147	D;P	0.71674	0.998;0.918	P;B	0.49561	0.615;0.194	T	0.06023	-1.0850	10	0.14656	T	0.56	.	11.5338	0.50626	0.1783:0.8217:0.0:0.0	.	137;472	F5H1L9;Q96JJ6	.;JPH4_HUMAN	Q	472;472;472;473;137	ENSP00000348648:R472Q;ENSP00000380307:R472Q;ENSP00000439562:R137Q	ENSP00000267407:R473Q	R	-	2	0	JPH4	23110365	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.190000	0.32126	2.575000	0.86900	0.655000	0.94253	CGA		0.682	JPH4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413853.1	NM_032452		7	38	0	0	0	1	0	7	38				
FOXN3	1112	broad.mit.edu	37	14	89878584	89878584	+	Silent	SNP	C	C	T			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr14:89878584C>T	ENST00000345097.4	-	2	353	c.237G>A	c.(235-237)tcG>tcA	p.S79S	RP11-33N16.2_ENST00000556383.1_RNA|FOXN3_ENST00000261302.5_Silent_p.S79S|FOXN3_ENST00000557258.1_Silent_p.S79S|RP11-33N16.3_ENST00000555070.1_RNA|FOXN3_ENST00000555353.1_Silent_p.S79S	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN	forkhead box N3	79					mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCCTGAGGACCGACTCCCCAA	0.587																																						ENST00000345097.4																			0				endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(235-237)tcG>tcA		forkhead box N3							76.0	65.0	69.0					14																	89878584		2203	4300	6503	SO:0001819	synonymous_variant	1112				DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr14:89878584C>T		CCDS32138.1, CCDS41977.1	14q32.11	2012-04-17	2007-05-02	2007-05-02	ENSG00000053254	ENSG00000053254		"""Forkhead boxes"""	1928	protein-coding gene	gene with protein product		602628	"""chromosome 14 open reading frame 116"", ""checkpoint suppressor 1"""	C14orf116, CHES1		9154802	Standard	NM_005197		Approved		uc001xxo.4	O00409	OTTHUMG00000170898	ENST00000345097.4:c.237G>A	14.37:g.89878584C>T						FOXN3_ENST00000557258.1_Silent_p.S79S|FOXN3_ENST00000555353.1_Silent_p.S79S|FOXN3_ENST00000261302.5_Silent_p.S79S	p.S79S	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN			2	353	-			79					Q96II7|Q9UIE7	Silent	SNP	ENST00000345097.4	37	c.237G>A	CCDS41977.1																																																																																				0.587	FOXN3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410902.2	NM_005197		13	62	0	0	0	1	0	13	62				
PLK3	1263	broad.mit.edu	37	1	45270100	45270100	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr1:45270100T>C	ENST00000372201.4	+	12	1671	c.1432T>C	c.(1432-1434)Tat>Cat	p.Y478H	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	478	POLO box 1. {ECO:0000255|PROSITE- ProRule:PRU00154}.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cytoplasmic microtubule organization (GO:0031122)|endomitotic cell cycle (GO:0007113)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi disassembly (GO:0090166)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G1/S transition checkpoint (GO:0044819)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia (GO:2000777)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of cell division (GO:0051302)|regulation of cytokinesis (GO:0032465)|response to osmotic stress (GO:0006970)|response to radiation (GO:0009314)|response to reactive oxygen species (GO:0000302)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi stack (GO:0005795)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					CGGCTTTGGGTATCAACTGTC	0.572																																						ENST00000372201.4																			0				endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1432-1434)Tat>Cat		polo-like kinase 3							67.0	75.0	73.0					1																	45270100		2203	4300	6503	SO:0001583	missense	1263					membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:45270100T>C	AJ293866	CCDS515.1	1p34.1	2013-01-18	2010-06-24	2004-01-28	ENSG00000173846	ENSG00000173846			2154	protein-coding gene	gene with protein product		602913	"""cytokine-inducible kinase"", ""polo-like kinase 3 (Drosophila)"""	CNK		8702627	Standard	NM_004073		Approved	FNK, PRK	uc001cmn.3	Q9H4B4	OTTHUMG00000008491	ENST00000372201.4:c.1432T>C	1.37:g.45270100T>C	ENSP00000361275:p.Tyr478His					PLK3_ENST00000465443.1_3'UTR	p.Y478H	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN			12	1671	+	Acute lymphoblastic leukemia(166;0.155)		478			POLO box 1.		Q15767|Q5JR99|Q96CV1	Missense_Mutation	SNP	ENST00000372201.4	37	c.1432T>C	CCDS515.1	.	.	.	.	.	.	.	.	.	.	t	21.6	4.167710	0.78339	.	.	ENSG00000173846	ENST00000372201;ENST00000543983	T	0.27256	1.68	5.22	5.22	0.72569	POLO box duplicated domain (2);	.	.	.	.	T	0.61515	0.2353	M	0.93462	3.42	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72972	-0.4129	9	0.87932	D	0	-9.447	14.6063	0.68481	0.0:0.0:0.0:1.0	.	478	Q9H4B4	PLK3_HUMAN	H	478;453	ENSP00000361275:Y478H	ENSP00000361275:Y478H	Y	+	1	0	PLK3	45042687	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.031000	0.88826	2.105000	0.64084	0.529000	0.55759	TAT		0.572	PLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023429.1	NM_004073		27	97	0	0	0	1	0	27	97				
MC2R	4158	broad.mit.edu	37	18	13885200	13885200	+	Silent	SNP	G	G	A	rs147706299	byFrequency	TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr18:13885200G>A	ENST00000327606.3	-	2	498	c.318C>T	c.(316-318)atC>atT	p.I106I		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	106					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuropeptide signaling pathway (GO:0007218)|placenta development (GO:0001890)|positive regulation of cAMP biosynthetic process (GO:0030819)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotropin receptor activity (GO:0004978)|melanocortin receptor activity (GO:0004977)			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	ACAGGGAGTCGATGATGTCAT	0.498													G|||	2	0.000399361	0.0	0.0	5008	,	,		21917	0.0		0.002	False		,,,				2504	0.0				Colon(141;1584 1782 35999 48227 48692)	ENST00000327606.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(316-318)atC>atT		melanocortin 2 receptor (adrenocorticotropic hormone)	Corticotropin(DB01285)|Cosyntropin(DB01284)	G		3,4403	6.2+/-15.9	0,3,2200	121.0	87.0	99.0		318	-9.4	0.3	18	dbSNP_134	99	9,8591	7.1+/-27.0	0,9,4291	no	coding-synonymous	MC2R	NM_000529.2		0,12,6491	AA,AG,GG		0.1047,0.0681,0.0923		106/298	13885200	12,12994	2203	4300	6503	SO:0001819	synonymous_variant	0				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding	g.chr18:13885200G>A		CCDS11869.1	18p11.2	2012-08-10			ENSG00000185231	ENSG00000185231		"""GPCR / Class A : Melanocortin receptors"""	6930	protein-coding gene	gene with protein product		607397				8390157	Standard	NM_001291911		Approved	ACTHR	uc002ksp.1	Q01718	OTTHUMG00000131721	ENST00000327606.3:c.318C>T	18.37:g.13885200G>A							p.I106I	NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN			2	498	-			106					A8K016|Q3MI45|Q504X6	Silent	SNP	ENST00000327606.3	37	c.318C>T	CCDS11869.1																																																																																				0.498	MC2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254639.2			19	49	0	0	0	1	0	19	49				
PITX3	5309	broad.mit.edu	37	10	103990274	103990274	+	Silent	SNP	T	T	C			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr10:103990274T>C	ENST00000370002.3	-	4	1059	c.906A>G	c.(904-906)gtA>gtG	p.V302V	PITX3_ENST00000539804.1_Silent_p.V302V	NM_005029.3	NP_005020.1	O75364	PITX3_HUMAN	paired-like homeodomain 3	302					dopaminergic neuron differentiation (GO:0071542)|lens development in camera-type eye (GO:0002088)|lens fiber cell differentiation (GO:0070306)|lens morphogenesis in camera-type eye (GO:0002089)|locomotory behavior (GO:0007626)|midbrain development (GO:0030901)|neuron development (GO:0048666)|organ morphogenesis (GO:0009887)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(1)|large_intestine(2)|lung(2)	5		Colorectal(252;0.00957)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GGGCCGCTCATACGGGCCTTT	0.667																																						ENST00000370002.3																			0				endometrium(1)|large_intestine(2)|lung(2)	5						c.(904-906)gtA>gtG		paired-like homeodomain 3							18.0	20.0	19.0					10																	103990274		2196	4298	6494	SO:0001819	synonymous_variant	5309				dopaminergic neuron differentiation|lens morphogenesis in camera-type eye|midbrain development|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:103990274T>C		CCDS7532.1	10q24.32	2013-11-14	2007-07-12		ENSG00000107859	ENSG00000107859		"""Homeoboxes / PRD class"""	9006	protein-coding gene	gene with protein product		602669	"""paired-like homeodomain transcription factor 3"", ""anterior segment mesenchymal dysgenesis"""	ASMD		9620774	Standard	NM_005029		Approved		uc001kuu.1	O75364	OTTHUMG00000018952	ENST00000370002.3:c.906A>G	10.37:g.103990274T>C						PITX3_ENST00000539804.1_Silent_p.V302V	p.V302V	NM_005029.3	NP_005020.1	O75364	PITX3_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	4	1059	-		Colorectal(252;0.00957)	302					Q5VZL2	Silent	SNP	ENST00000370002.3	37	c.906A>G	CCDS7532.1																																																																																				0.667	PITX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050031.1			3	21	0	0	0	1	0	3	21				
TSG101	7251	broad.mit.edu	37	11	18505466	18505466	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr11:18505466T>C	ENST00000251968.3	-	8	1209	c.794A>G	c.(793-795)aAg>aGg	p.K265R	TSG101_ENST00000357193.3_Missense_Mutation_p.K160R|TSG101_ENST00000536719.1_Missense_Mutation_p.K265R	NM_006292.3	NP_006283.1	Q99816	TS101_HUMAN	tumor susceptibility 101	265					cell cycle arrest (GO:0007050)|cell division (GO:0051301)|cellular protein modification process (GO:0006464)|endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|keratinocyte differentiation (GO:0030216)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell growth (GO:0001558)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|viral budding (GO:0046755)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|multivesicular body (GO:0005771)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transcription corepressor activity (GO:0003714)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						CTGGTGACCCTTTTTCAGGTC	0.438																																					GBM(99;1348 1396 8611 26475 50572)	ENST00000536719.1																			0				kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						c.(793-795)aAg>aGg		tumor susceptibility 101							262.0	254.0	257.0					11																	18505466		2199	4293	6492	SO:0001583	missense	7251				cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane	calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding	g.chr11:18505466T>C	U82130	CCDS7842.1	11p15	2013-08-22	2013-08-22		ENSG00000074319	ENSG00000074319			15971	protein-coding gene	gene with protein product		601387	"""tumor susceptibility gene 10"", ""tumor susceptibility gene 101"""	TSG10		9019400, 9241264	Standard	NM_006292		Approved	VPS23	uc001mor.3	Q99816	OTTHUMG00000167725	ENST00000251968.3:c.794A>G	11.37:g.18505466T>C	ENSP00000251968:p.Lys265Arg					TSG101_ENST00000251968.3_Missense_Mutation_p.K265R|TSG101_ENST00000357193.3_Missense_Mutation_p.K160R	p.K265R			Q99816	TS101_HUMAN			8	928	-			265					Q9BUM5	Missense_Mutation	SNP	ENST00000251968.3	37	c.794A>G	CCDS7842.1	.	.	.	.	.	.	.	.	.	.	T	16.11	3.030954	0.54790	.	.	ENSG00000074319	ENST00000536719;ENST00000251968;ENST00000357193	T;T;T	0.52983	0.64;0.64;0.64	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.38957	0.1060	L	0.41710	1.295	0.54753	D	0.999982	B	0.06786	0.001	B	0.06405	0.002	T	0.18903	-1.0322	10	0.19147	T	0.46	-23.3487	14.3285	0.66537	0.0:0.0:0.0:1.0	.	265	Q99816	TS101_HUMAN	R	265;265;160	ENSP00000438471:K265R;ENSP00000251968:K265R;ENSP00000349721:K160R	ENSP00000251968:K265R	K	-	2	0	TSG101	18462042	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.375000	0.79646	2.125000	0.65367	0.459000	0.35465	AAG		0.438	TSG101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395906.1	NM_006292		4	273	0	0	0	1	0	4	273				
FAT2	2196	broad.mit.edu	37	5	150911164	150911164	+	Silent	SNP	G	G	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr5:150911164G>A	ENST00000261800.5	-	13	9807	c.9795C>T	c.(9793-9795)cgC>cgT	p.R3265R		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3265	Cadherin 29. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAGCATCCAGGCGGAACCTGC	0.652																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(9793-9795)cgC>cgT		FAT atypical cadherin 2							36.0	31.0	33.0					5																	150911164		2203	4300	6503	SO:0001819	synonymous_variant	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150911164G>A	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.9795C>T	5.37:g.150911164G>A							p.R3265R	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		13	9807	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	3265			Cadherin 29.		O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	37	c.9795C>T	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	8.617	0.890559	0.17613	.	.	ENSG00000086570	ENST00000520200	.	.	.	5.21	-0.635	0.11512	.	.	.	.	.	T	0.43875	0.1267	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	T	0.29243	-1.0018	4	.	.	.	.	3.9819	0.09498	0.0763:0.3131:0.3485:0.2621	.	.	.	.	S	124	.	.	P	-	1	0	FAT2	150891357	0.472000	0.25870	0.999000	0.59377	0.764000	0.43329	-0.063000	0.11655	0.199000	0.20427	0.555000	0.69702	CCT		0.652	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		5	40	0	0	0	1	0	5	40				
C3orf14	57415	broad.mit.edu	37	3	62317034	62317034	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr3:62317034G>A	ENST00000494481.1	+	5	526	c.212G>A	c.(211-213)aGg>aAg	p.R71K	C3orf14_ENST00000232519.5_Missense_Mutation_p.R71K|C3orf14_ENST00000542214.1_Missense_Mutation_p.R71K|PTPRG-AS1_ENST00000490916.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA|C3orf14_ENST00000462069.1_Missense_Mutation_p.R71K			Q9HBI5	CC014_HUMAN	chromosome 3 open reading frame 14	71										central_nervous_system(1)|large_intestine(1)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(55;0.00023)|KIRC - Kidney renal clear cell carcinoma(15;0.00877)|Kidney(15;0.0101)		CTACAGACCAGGATTCACCCA	0.408																																						ENST00000494481.1																			0				central_nervous_system(1)|large_intestine(1)|lung(1)	3						c.(211-213)aGg>aAg		chromosome 3 open reading frame 14							122.0	119.0	120.0					3																	62317034		2203	4300	6503	SO:0001583	missense	57415							g.chr3:62317034G>A	AF236158	CCDS2896.1	3p14.2	2011-11-29			ENSG00000114405	ENSG00000114405			25024	protein-coding gene	gene with protein product						12477932	Standard	XM_005265338		Approved	HT021	uc003dlg.3	Q9HBI5	OTTHUMG00000158704	ENST00000494481.1:c.212G>A	3.37:g.62317034G>A	ENSP00000418086:p.Arg71Lys					PTPRG-AS1_ENST00000495542.1_RNA|C3orf14_ENST00000462069.1_Missense_Mutation_p.R71K|C3orf14_ENST00000542214.1_Missense_Mutation_p.R71K|C3orf14_ENST00000232519.5_Missense_Mutation_p.R71K|PTPRG-AS1_ENST00000490916.1_RNA	p.R71K			Q9HBI5	CC014_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00023)|KIRC - Kidney renal clear cell carcinoma(15;0.00877)|Kidney(15;0.0101)	5	526	+			71					B2R9U0	Missense_Mutation	SNP	ENST00000494481.1	37	c.212G>A	CCDS2896.1	.	.	.	.	.	.	.	.	.	.	G	12.87	2.068225	0.36470	.	.	ENSG00000114405	ENST00000462069;ENST00000232519;ENST00000494481;ENST00000542214	.	.	.	6.12	0.705	0.18127	.	0.320076	0.30969	N	0.008513	T	0.25269	0.0614	N	0.21142	0.635	0.09310	N	1	B	0.10296	0.003	B	0.11329	0.006	T	0.18335	-1.0340	9	0.23891	T	0.37	-14.8523	10.5518	0.45092	0.3728:0.0:0.6272:0.0	.	71	Q9HBI5	CC014_HUMAN	K	71	.	ENSP00000232519:R71K	R	+	2	0	C3orf14	62292074	0.028000	0.19301	0.356000	0.25785	0.885000	0.51271	0.448000	0.21726	0.176000	0.19873	0.644000	0.83932	AGG		0.408	C3orf14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351807.1	NM_020685		19	87	0	0	0	1	0	19	87				
AGBL2	79841	broad.mit.edu	37	11	47712125	47712125	+	Silent	SNP	C	C	T	rs370106534	byFrequency	TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr11:47712125C>T	ENST00000525123.1	-	10	1419	c.1134G>A	c.(1132-1134)acG>acA	p.T378T	AGBL2_ENST00000298861.4_Silent_p.T378T|AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000528244.1_Silent_p.T340T|AGBL2_ENST00000357610.3_Silent_p.T378T	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	378						cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.T378T(1)		NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						GAATGGTCCACGTGAGACAGT	0.463													C|||	2	0.000399361	0.0015	0.0	5008	,	,		22113	0.0		0.0	False		,,,				2504	0.0					ENST00000525123.1																			1	Substitution - coding silent(1)	p.T378T(1)	lung(1)	NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						c.(1132-1134)acG>acA		ATP/GTP binding protein-like 2		C		1,4401	2.1+/-5.4	0,1,2200	180.0	153.0	162.0		1134	-6.7	0.9	11		162	0,8596		0,0,4298	no	coding-synonymous	AGBL2	NM_024783.3		0,1,6498	TT,TC,CC		0.0,0.0227,0.0077		378/903	47712125	1,12997	2201	4298	6499	SO:0001819	synonymous_variant	79841				proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding	g.chr11:47712125C>T		CCDS7944.1	11p11.2	2014-06-23			ENSG00000165923	ENSG00000165923			26296	protein-coding gene	gene with protein product	"""cytoplasmic carboxypeptidase 2"""					12738998, 21303978	Standard	NM_024783		Approved	FLJ23598, CCP2	uc001ngg.3	Q5U5Z8	OTTHUMG00000165368	ENST00000525123.1:c.1134G>A	11.37:g.47712125C>T						AGBL2_ENST00000528244.1_Silent_p.T340T|AGBL2_ENST00000357610.3_Silent_p.T378T|AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000298861.4_Silent_p.T378T	p.T378T	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN			10	1419	-			378					A8MPX2|Q53FV5|Q8IV57|Q9H5C0	Silent	SNP	ENST00000525123.1	37	c.1134G>A	CCDS7944.1																																																																																				0.463	AGBL2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383726.2	NM_024783		17	105	0	0	0	1	0	17	105				
VWA9	81556	broad.mit.edu	37	15	65871953	65871953	+	Silent	SNP	C	C	G			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr15:65871953C>G	ENST00000395644.4	-	12	1685	c.1350G>C	c.(1348-1350)ctG>ctC	p.L450L	VWA9_ENST00000420799.2_Silent_p.L393L|VWA9_ENST00000431261.2_Silent_p.L371L|VWA9_ENST00000313182.2_Silent_p.L450L|VWA9_ENST00000569491.1_Silent_p.L400L|VWA9_ENST00000442903.3_Silent_p.L414L|VWA9_ENST00000567744.1_Silent_p.L486L			Q96SY0	VWA9_HUMAN	von Willebrand factor A domain containing 9	450																	TCAGCAGGTCCAGGAAACCAA	0.527																																						ENST00000395644.4																			0											c.(1348-1350)ctG>ctC		von Willebrand factor A domain containing 9							59.0	52.0	55.0					15																	65871953		2201	4299	6500	SO:0001819	synonymous_variant	81556							g.chr15:65871953C>G	AL136662	CCDS55969.1, CCDS45283.1	15q22.31	2012-09-27	2012-09-27	2012-09-27	ENSG00000138614	ENSG00000138614			25372	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 44"""	C15orf44		11230166	Standard	NM_001136043		Approved	DKFZP564O1664	uc010uja.2	Q96SY0	OTTHUMG00000133159	ENST00000395644.4:c.1350G>C	15.37:g.65871953C>G						VWA9_ENST00000567744.1_Silent_p.L486L|VWA9_ENST00000313182.2_Silent_p.L450L|VWA9_ENST00000442903.3_Silent_p.L414L|VWA9_ENST00000569491.1_Silent_p.L400L|VWA9_ENST00000420799.2_Silent_p.L393L|VWA9_ENST00000431261.2_Silent_p.L371L	p.L450L							12	1685	-								B4DDI6|B4DVD5|Q49AH8|Q96HX5|Q9H0S5	Silent	SNP	ENST00000395644.4	37	c.1350G>C																																																																																					0.527	VWA9-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420604.3	NM_030800		5	42	0	0	0	1	0	5	42				
TRMT1	55621	broad.mit.edu	37	19	13216326	13216326	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr19:13216326C>T	ENST00000592062.1	-	16	2248	c.1678G>A	c.(1678-1680)Ggt>Agt	p.G560S	LYL1_ENST00000264824.4_5'Flank|TRMT1_ENST00000221504.8_Missense_Mutation_p.G531S|TRMT1_ENST00000357720.4_Missense_Mutation_p.G560S|TRMT1_ENST00000437766.1_Missense_Mutation_p.G560S			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	560							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		GGCCGGGGACCCCAGTTGGCC	0.657																																						ENST00000592062.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14						c.(1678-1680)Ggt>Agt		tRNA methyltransferase 1 homolog (S. cerevisiae)							60.0	72.0	68.0					19																	13216326		2203	4300	6503	SO:0001583	missense	55621						RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding	g.chr19:13216326C>T	AF196479	CCDS12293.1, CCDS45997.1	19p13.13	2012-06-12	2012-06-12						25980	protein-coding gene	gene with protein product		611669				10982862	Standard	NM_001142554		Approved	FLJ20244, TRM1	uc002mwl.3	Q9NXH9		ENST00000592062.1:c.1678G>A	19.37:g.13216326C>T	ENSP00000466967:p.Gly560Ser					TRMT1_ENST00000437766.1_Missense_Mutation_p.G560S|TRMT1_ENST00000357720.4_Missense_Mutation_p.G560S|TRMT1_ENST00000221504.8_Missense_Mutation_p.G531S	p.G560S			Q9NXH9	TRM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)	16	2248	-			560					O76103|Q548Y5|Q8WVA6	Missense_Mutation	SNP	ENST00000592062.1	37	c.1678G>A	CCDS12293.1	.	.	.	.	.	.	.	.	.	.	C	32	5.126108	0.94429	.	.	ENSG00000104907	ENST00000357720;ENST00000437766;ENST00000221504	T;T;T	0.07444	3.19;3.19;3.19	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.36635	0.0974	M	0.91561	3.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.46484	-0.9188	10	0.87932	D	0	-19.969	14.7899	0.69833	0.0:1.0:0.0:0.0	.	531;560	Q9NXH9-2;Q9NXH9	.;TRM1_HUMAN	S	560;560;531	ENSP00000350352:G560S;ENSP00000416149:G560S;ENSP00000221504:G531S	ENSP00000221504:G531S	G	-	1	0	TRMT1	13077326	1.000000	0.71417	1.000000	0.80357	0.742000	0.42306	6.881000	0.75584	2.368000	0.80403	0.561000	0.74099	GGT		0.657	TRMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452780.2	NM_017722		21	143	0	0	0	1	0	21	143				
PKP4	8502	broad.mit.edu	37	2	159533253	159533253	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr2:159533253G>A	ENST00000389759.3	+	20	3242	c.3130G>A	c.(3130-3132)Ggc>Agc	p.G1044S	PKP4_ENST00000389757.3_Intron|AC005042.4_ENST00000442666.1_RNA|AC005042.4_ENST00000342892.4_RNA	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	1044					cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						CCCTTCAGTCGGCAGCACCTC	0.488										HNSCC(62;0.18)																												ENST00000389759.3																			0				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						c.(3130-3132)Ggc>Agc		plakophilin 4							136.0	133.0	134.0					2																	159533253		2203	4300	6503	SO:0001583	missense	8502				cell adhesion	desmosome	protein binding	g.chr2:159533253G>A	X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"""Armadillo repeat containing"""	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.3130G>A	2.37:g.159533253G>A	ENSP00000374409:p.Gly1044Ser	HNSCC(62;0.18)				PKP4_ENST00000389757.3_Intron|AC005042.4_ENST00000342892.4_RNA	p.G1044S	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN			20	3242	+			1044					Q86W91	Missense_Mutation	SNP	ENST00000389759.3	37	c.3130G>A	CCDS33305.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.016767	0.35606	.	.	ENSG00000144283	ENST00000389759	T	0.72394	-0.65	6.17	6.17	0.99709	.	0.171219	0.52532	D	0.000077	T	0.54287	0.1849	L	0.27053	0.805	0.80722	D	1	P;P	0.34743	0.466;0.466	B;B	0.24269	0.039;0.052	T	0.57814	-0.7746	10	0.02654	T	1	-13.0355	20.8794	0.99867	0.0:0.0:1.0:0.0	.	999;1044	Q4W5T8;Q99569	.;PKP4_HUMAN	S	1044	ENSP00000374409:G1044S	ENSP00000374409:G1044S	G	+	1	0	PKP4	159241499	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	9.476000	0.97823	2.941000	0.99782	0.655000	0.94253	GGC		0.488	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333250.1			7	154	0	0	0	1	0	7	154				
HKDC1	80201	broad.mit.edu	37	10	71008401	71008401	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr10:71008401A>G	ENST00000354624.5	+	10	1620	c.1487A>G	c.(1486-1488)gAg>gGg	p.E496G	HKDC1_ENST00000488706.1_3'UTR|HKDC1_ENST00000395086.2_Missense_Mutation_p.E496G	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	496	Hexokinase type-1 2.				carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)	cytosol (GO:0005829)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|mannokinase activity (GO:0019158)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GCTGAGCTGGAGTATGGGCTG	0.657																																						ENST00000354624.5																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(1486-1488)gAg>gGg		hexokinase domain containing 1							43.0	43.0	43.0					10																	71008401		2203	4300	6503	SO:0001583	missense	80201				glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity	g.chr10:71008401A>G		CCDS7288.1	10q22.1	2006-10-24			ENSG00000156510	ENSG00000156510			23302	protein-coding gene	gene with protein product						12477932	Standard	NM_025130		Approved	FLJ37767, FLJ22761	uc001jpf.4	Q2TB90	OTTHUMG00000018371	ENST00000354624.5:c.1487A>G	10.37:g.71008401A>G	ENSP00000346643:p.Glu496Gly					HKDC1_ENST00000395086.2_Missense_Mutation_p.E496G|HKDC1_ENST00000488706.1_3'UTR	p.E496G	NM_025130.3	NP_079406.3	Q2TB90	HKDC1_HUMAN			10	1620	+			496					B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9	Missense_Mutation	SNP	ENST00000354624.5	37	c.1487A>G	CCDS7288.1	.	.	.	.	.	.	.	.	.	.	A	16.39	3.108720	0.56291	.	.	ENSG00000156510	ENST00000354624;ENST00000395087;ENST00000395086	D;D	0.98567	-5.0;-5.0	4.85	4.85	0.62838	Hexokinase, N-terminal (1);	0.050425	0.85682	D	0.000000	D	0.97561	0.9201	M	0.84219	2.685	0.58432	D	0.999991	B	0.09022	0.002	B	0.20184	0.028	D	0.96788	0.9580	10	0.56958	D	0.05	-23.7884	14.2445	0.65978	1.0:0.0:0.0:0.0	.	496	Q2TB90	HKDC1_HUMAN	G	496	ENSP00000346643:E496G;ENSP00000378521:E496G	ENSP00000346643:E496G	E	+	2	0	HKDC1	70678407	1.000000	0.71417	0.530000	0.27963	0.765000	0.43378	7.237000	0.78164	2.031000	0.59945	0.379000	0.24179	GAG		0.657	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048389.1	NM_025130		4	37	0	0	0	1	0	4	37				
CASZ1	54897	broad.mit.edu	37	1	10719882	10719882	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr1:10719882G>A	ENST00000377022.3	-	6	1534	c.1217C>T	c.(1216-1218)gCc>gTc	p.A406V	CASZ1_ENST00000344008.5_Missense_Mutation_p.A406V|CASZ1_ENST00000478728.2_5'Flank	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	406	Pro-rich.				multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GGCGCTGGGGGCACTGGGCAC	0.677																																						ENST00000377022.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54						c.(1216-1218)gCc>gTc		castor zinc finger 1							32.0	35.0	34.0					1																	10719882		2202	4298	6500	SO:0001583	missense	54897				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr1:10719882G>A	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"""Zinc fingers, C2H2-type"""	26002	protein-coding gene	gene with protein product	"""zinc finger protein 693"", ""survival related gene"""	609895	"""castor homolog 1, zinc finger (Drosophila)"""			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.1217C>T	1.37:g.10719882G>A	ENSP00000366221:p.Ala406Val					CASZ1_ENST00000344008.5_Missense_Mutation_p.A406V	p.A406V	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)	6	1534	-	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	406			Pro-rich.		Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Missense_Mutation	SNP	ENST00000377022.3	37	c.1217C>T	CCDS41246.1	.	.	.	.	.	.	.	.	.	.	g	0.938	-0.710367	0.03230	.	.	ENSG00000130940	ENST00000377022;ENST00000344008	.	.	.	4.1	3.17	0.36434	.	0.365392	0.27249	N	0.020227	T	0.21145	0.0509	N	0.08118	0	0.09310	N	0.999995	B;B;B;B	0.12013	0.005;0.001;0.001;0.001	B;B;B;B	0.09377	0.004;0.002;0.002;0.004	T	0.14337	-1.0476	9	0.45353	T	0.12	-0.5218	8.2439	0.31675	0.1114:0.0:0.8886:0.0	.	430;406;406;406	B7Z1S3;B3KRV8;Q86V15-2;Q86V15	.;.;.;CASZ1_HUMAN	V	406	.	ENSP00000339445:A406V	A	-	2	0	CASZ1	10642469	0.201000	0.23410	0.053000	0.19242	0.052000	0.14988	2.633000	0.46519	1.079000	0.41038	0.486000	0.48141	GCC		0.677	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766		3	47	0	0	0	1	0	3	47				
AKAP9	10142	broad.mit.edu	37	7	91691589	91691589	+	Splice_Site	SNP	C	C	T			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr7:91691589C>T	ENST00000359028.2	+	25	6027	c.5802C>T	c.(5800-5802)ggC>ggT	p.G1934G	AKAP9_ENST00000358100.2_Splice_Site_p.G1934G|AKAP9_ENST00000356239.3_Splice_Site_p.G1922G|AKAP9_ENST00000491695.1_3'UTR			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1934	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GTATTATAGGCGTCATTGATG	0.299			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.e25-1		A kinase (PRKA) anchor protein 9							55.0	62.0	60.0					7																	91691589		2203	4300	6503	SO:0001630	splice_region_variant	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91691589C>T	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.5801-1C>T	7.37:g.91691589C>T						AKAP9_ENST00000358100.2_Splice_Site_p.G1934_splice|AKAP9_ENST00000491695.1_3'UTR|AKAP9_ENST00000356239.3_Splice_Site_p.G1922_splice	p.G1934_splice			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		25	6027	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		1934			Glu-rich.		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Splice_Site	SNP	ENST00000359028.2	37	c.5800_splice																																																																																					0.299	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751	Silent	10	40	0	0	0	1	0	10	40				
TRIM68	55128	broad.mit.edu	37	11	4626487	4626487	+	Missense_Mutation	SNP	C	C	T	rs376554144		TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr11:4626487C>T	ENST00000300747.5	-	2	537	c.248G>A	c.(247-249)cGt>cAt	p.R83H		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	83					protein autoubiquitination (GO:0051865)|regulation of androgen receptor signaling pathway (GO:0060765)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|histone acetyltransferase binding (GO:0035035)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R83H(1)		breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		CCTTAGCAGACGGACTTTTTC	0.532																																						ENST00000300747.5																			1	Substitution - Missense(1)	p.R83H(1)	lung(1)	breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15						c.(247-249)cGt>cAt		tripartite motif containing 68		C	HIS/ARG	0,4402		0,0,2201	165.0	147.0	153.0		248	2.8	0.4	11		153	1,8595	1.2+/-3.3	0,1,4297	no	missense	TRIM68	NM_018073.5	29	0,1,6498	TT,TC,CC		0.0116,0.0,0.0077	benign	83/486	4626487	1,12997	2201	4298	6499	SO:0001583	missense	55128				protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:4626487C>T	AF360739	CCDS31356.1	11p15.4	2013-01-09	2011-01-25	2004-11-17		ENSG00000167333		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	21161	protein-coding gene	gene with protein product		613184	"""ring finger protein 137"", ""tripartite motif-containing 68"""	RNF137		11597395	Standard	NM_018073		Approved	SS-56, FLJ10369	uc001lzf.2	Q6AZZ1		ENST00000300747.5:c.248G>A	11.37:g.4626487C>T	ENSP00000300747:p.Arg83His						p.R83H	NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)	2	537	-		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)	83					A6NI19|A8K551|B3KPM5|B4DVK4|Q8WZ70|Q96LE5|Q96PF7|Q9H9C2|Q9NW18	Missense_Mutation	SNP	ENST00000300747.5	37	c.248G>A	CCDS31356.1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.005997	0.35415	0.0	1.16E-4	ENSG00000167333	ENST00000300747;ENST00000533021	D;D	0.84730	-1.89;-1.89	4.7	2.82	0.32997	Zinc finger, RING/FYVE/PHD-type (1);	0.600314	0.15089	N	0.281169	D	0.85504	0.5712	M	0.86740	2.835	0.09310	N	1	B;B	0.21753	0.06;0.041	B;B	0.15870	0.006;0.014	T	0.78595	-0.2143	10	0.72032	D	0.01	.	9.4959	0.38989	0.0:0.8185:0.0:0.1815	.	83;83	E9PR29;Q6AZZ1	.;TRI68_HUMAN	H	83	ENSP00000300747:R83H;ENSP00000436112:R83H	ENSP00000300747:R83H	R	-	2	0	TRIM68	4583063	0.000000	0.05858	0.356000	0.25785	0.948000	0.59901	0.605000	0.24179	0.663000	0.31027	0.549000	0.68633	CGT		0.532	TRIM68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385948.1	NM_018073		31	151	0	0	0	1	0	31	151				
NCOA3	8202	broad.mit.edu	37	20	46279830	46279830	+	Silent	SNP	G	G	A	rs147918555	byFrequency	TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr20:46279830G>A	ENST00000371998.3	+	20	3947	c.3756G>A	c.(3754-3756)caG>caA	p.Q1252Q	NCOA3_ENST00000372004.3_Silent_p.Q1248Q|NCOA3_ENST00000371997.3_Silent_p.Q1243Q|NCOA3_ENST00000341724.6_Silent_p.Q1178Q			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1252	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q1252Q(3)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcagcaacagc	0.547													g|||	52	0.0103834	0.0053	0.0086	5008	,	,		14808	0.006		0.0	False		,,,				2504	0.0337					ENST00000372004.3																			3	Substitution - coding silent(3)	p.Q1252Q(3)	lung(2)|prostate(1)	breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(3742-3744)caG>caA		nuclear receptor coactivator 3							47.0	54.0	51.0					20																	46279830		2202	4300	6502	SO:0001819	synonymous_variant	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46279830G>A	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.3756G>A	20.37:g.46279830G>A						NCOA3_ENST00000371997.3_Silent_p.Q1243Q|NCOA3_ENST00000371998.3_Silent_p.Q1252Q|NCOA3_ENST00000341724.6_Silent_p.Q1178Q	p.Q1248Q	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN			20	3960	+			1252		Missing.	Acetyltransferase.|Poly-Gln.		A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Silent	SNP	ENST00000371998.3	37	c.3744G>A	CCDS13407.1																																																																																				0.547	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		3	30	0	0	0	1	0	3	30				
BCRP7	100133163	broad.mit.edu	37	22	18844766	18844766	+	3'UTR	SNP	G	G	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr22:18844766G>A	ENST00000412938.1	+	0	3016																											CAGCCTCTGAGGGCAGCAGTG	0.557																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18844766G>A																												ENST00000412938.1:c.*3013G>A	22.37:g.18844766G>A														0	3016	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.557	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			2	2	0	0	0	1	0	2	2				
P4HA1	5033	broad.mit.edu	37	10	74769597	74769597	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr10:74769597G>A	ENST00000307116.2	-	14	1618	c.1502C>T	c.(1501-1503)gCa>gTa	p.A501V	P4HA1_ENST00000394890.2_Missense_Mutation_p.A501V|P4HA1_ENST00000412021.2_Missense_Mutation_p.A501V|P4HA1_ENST00000440381.1_Missense_Mutation_p.A483V|P4HA1_ENST00000263556.3_Missense_Mutation_p.A501V|P4HA1_ENST00000373008.2_Missense_Mutation_p.A501V			P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	501	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				collagen fibril organization (GO:0030199)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)	endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|procollagen-proline 4-dioxygenase complex (GO:0016222)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TGGACAGGCTGCATGCCGTGT	0.373																																					Colon(147;367 2405 2662 52127)	ENST00000412021.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15						c.(1501-1503)gCa>gTa		prolyl 4-hydroxylase, alpha polypeptide I	Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)						83.0	81.0	82.0					10																	74769597		2203	4300	6503	SO:0001583	missense	5033					endoplasmic reticulum lumen|mitochondrion	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity	g.chr10:74769597G>A		CCDS7320.1, CCDS41537.1, CCDS44432.1	10q21.3-q23.1	2008-12-09	2008-12-09		ENSG00000122884	ENSG00000122884	1.14.11.2		8546	protein-coding gene	gene with protein product	"""collagen prolyl 4-hydroxylase alpha(I)"""	176710	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide I"""	P4HA		2556027	Standard	NM_001017962		Approved	C-P4Halpha(I)	uc001jtg.3	P13674	OTTHUMG00000018449	ENST00000307116.2:c.1502C>T	10.37:g.74769597G>A	ENSP00000307318:p.Ala501Val					P4HA1_ENST00000394890.2_Missense_Mutation_p.A501V|P4HA1_ENST00000307116.2_Missense_Mutation_p.A501V|P4HA1_ENST00000440381.1_Missense_Mutation_p.A483V|P4HA1_ENST00000263556.3_Missense_Mutation_p.A501V|P4HA1_ENST00000373008.2_Missense_Mutation_p.A501V	p.A501V	NM_001142595.1	NP_001136067.1	P13674	P4HA1_HUMAN			15	1835	-	Prostate(51;0.0198)		501			Fe2OG dioxygenase.		C9JL12|Q15082|Q15083|Q5VSQ5	Missense_Mutation	SNP	ENST00000307116.2	37	c.1502C>T		.	.	.	.	.	.	.	.	.	.	G	35	5.511029	0.96386	.	.	ENSG00000122884	ENST00000307116;ENST00000373008;ENST00000412021;ENST00000394890;ENST00000263556;ENST00000440381	T;T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1;-1.1;-1.1	5.29	5.29	0.74685	Oxoglutarate/iron-dependent oxygenase (2);Prolyl 4-hydroxylase, alpha subunit (1);	0.000000	0.85682	D	0.000000	D	0.92476	0.7611	H	0.96604	3.85	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.94869	0.8028	10	0.87932	D	0	-5.5709	18.5323	0.90997	0.0:0.0:1.0:0.0	.	483;501;501	C9JL12;Q5VSQ6;P13674	.;.;P4HA1_HUMAN	V	501;501;501;501;501;483	ENSP00000307318:A501V;ENSP00000362099:A501V;ENSP00000411688:A501V;ENSP00000378353:A501V;ENSP00000263556:A501V;ENSP00000414464:A483V	ENSP00000263556:A501V	A	-	2	0	P4HA1	74439603	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.348000	0.97062	2.490000	0.84030	0.655000	0.94253	GCA		0.373	P4HA1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000048601.1	NM_000917		3	55	0	0	0	1	0	3	55				
LILRB5	10990	broad.mit.edu	37	19	54756362	54756362	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr19:54756362C>T	ENST00000316219.5	-	10	1629	c.1522G>A	c.(1522-1524)Ggc>Agc	p.G508S	LILRB5_ENST00000450632.1_Missense_Mutation_p.G500S|CTD-2337J16.1_ENST00000595133.1_lincRNA|LILRB5_ENST00000345866.6_Missense_Mutation_p.G409S|LILRB5_ENST00000449561.2_Missense_Mutation_p.G509S	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	508					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TTCTGCAGGCCCTGGTCCTTG	0.627																																						ENST00000450632.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1498-1500)Ggc>Agc		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5							120.0	112.0	114.0					19																	54756362		2203	4300	6503	SO:0001583	missense	0				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	g.chr19:54756362C>T	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.1522G>A	19.37:g.54756362C>T	ENSP00000320390:p.Gly508Ser					LILRB5_ENST00000449561.2_Missense_Mutation_p.G509S|LILRB5_ENST00000345866.6_Missense_Mutation_p.G409S|LILRB5_ENST00000316219.5_Missense_Mutation_p.G508S	p.G500S			O75023	LIRB5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	10	1575	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		508					Q8N760	Missense_Mutation	SNP	ENST00000316219.5	37	c.1498G>A	CCDS12885.1	.	.	.	.	.	.	.	.	.	.	C	11.74	1.727693	0.30593	.	.	ENSG00000105609	ENST00000316219;ENST00000450632;ENST00000449561;ENST00000345866	T;T;T;T	0.00475	7.24;7.16;7.23;7.2	2.08	0.986	0.19784	.	.	.	.	.	T	0.00440	0.0014	M	0.68317	2.08	0.09310	N	1	B;B;B;B	0.31274	0.256;0.317;0.012;0.011	B;B;B;B	0.28232	0.062;0.087;0.007;0.004	T	0.42258	-0.9462	9	0.62326	D	0.03	.	3.9515	0.09371	0.0:0.7554:0.0:0.2446	.	500;409;509;508	C9JMK7;O75023-2;O75023-3;O75023	.;.;.;LIRB5_HUMAN	S	508;500;509;409	ENSP00000320390:G508S;ENSP00000414225:G500S;ENSP00000406478:G509S;ENSP00000263430:G409S	ENSP00000320390:G508S	G	-	1	0	LILRB5	59448174	0.080000	0.21391	0.002000	0.10522	0.001000	0.01503	0.479000	0.22228	0.373000	0.24621	0.585000	0.79938	GGC		0.627	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			27	89	0	0	0	1	0	27	89				
ACRC	93953	broad.mit.edu	37	X	70828895	70828895	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chrX:70828895T>A	ENST00000373695.1	+	9	2076	c.1539T>A	c.(1537-1539)aaT>aaA	p.N513K	ACRC_ENST00000373696.3_Missense_Mutation_p.N513K			Q96QF7	ACRC_HUMAN	acidic repeat containing	513	Arg/Lys/Pro-rich.					nucleus (GO:0005634)				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					CTGGAAAAAATTTAAAGCGAA	0.363																																						ENST00000373695.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54						c.(1537-1539)aaT>aaA		acidic repeat containing							58.0	52.0	54.0					X																	70828895		2203	4300	6503	SO:0001583	missense	93953					nucleus		g.chrX:70828895T>A	AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.1539T>A	X.37:g.70828895T>A	ENSP00000362799:p.Asn513Lys					ACRC_ENST00000373696.3_Missense_Mutation_p.N513K	p.N513K			Q96QF7	ACRC_HUMAN			9	2076	+	Renal(35;0.156)		513			Arg/Lys/Pro-rich.		B9EG62	Missense_Mutation	SNP	ENST00000373695.1	37	c.1539T>A	CCDS35326.1	.	.	.	.	.	.	.	.	.	.	t	9.406	1.079303	0.20227	.	.	ENSG00000147174	ENST00000373696;ENST00000373695	T;T	0.30182	1.54;1.54	4.83	-9.65	0.00537	.	.	.	.	.	T	0.17450	0.0419	L	0.35723	1.085	0.09310	N	1	B	0.22683	0.073	B	0.26094	0.066	T	0.13229	-1.0517	9	0.32370	T	0.25	.	4.9482	0.14000	0.3324:0.0771:0.4694:0.1211	.	513	Q96QF7	ACRC_HUMAN	K	513	ENSP00000362800:N513K;ENSP00000362799:N513K	ENSP00000362799:N513K	N	+	3	2	ACRC	70745620	0.039000	0.19947	0.000000	0.03702	0.000000	0.00434	-1.808000	0.01732	-3.330000	0.00186	-2.299000	0.00261	AAT		0.363	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081856.1			12	15	0	0	0	1	0	12	15				
UBBP4	23666	broad.mit.edu	37	17	21730916	21730916	+	Missense_Mutation	SNP	G	G	T	rs111245273	byFrequency	TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr17:21730916G>T	ENST00000578713.1	+	1	222	c.218G>T	c.(217-219)cGg>cTg	p.R73L	UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000584755.1_Missense_Mutation_p.R73L					ubiquitin B pseudogene 4									p.R73L(24)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCGGAGAGGTGGT	0.552													.|||	27	0.00539137	0.0182	0.0029	5008	,	,		20752	0.0		0.0	False		,,,				2504	0.001					ENST00000584755.1																			24	Substitution - Missense(24)	p.R73L(24)	kidney(9)|urinary_tract(6)|endometrium(6)|prostate(3)	endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(217-219)cGg>cTg																																						SO:0001583	missense	0							g.chr17:21730916G>T	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.218G>T	17.37:g.21730916G>T	ENSP00000464265:p.Arg73Leu					UBBP4_ENST00000578713.1_Missense_Mutation_p.R73L|UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000583708.1_Intron	p.R73L							2	615	+									Missense_Mutation	SNP	ENST00000578713.1	37	c.218G>T																																																																																					0.552	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444589.2			3	59	1	0	1	1	1	3	59				
GPR17	2840	broad.mit.edu	37	2	128409282	128409282	+	Missense_Mutation	SNP	G	G	A	rs78078469		TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr2:128409282G>A	ENST00000272644.3	+	3	1131	c.1057G>A	c.(1057-1059)Gaa>Aaa	p.E353K	GPR17_ENST00000486700.1_3'UTR|LIMS2_ENST00000409808.2_Intron|LIMS2_ENST00000409254.1_5'Flank|LIMS2_ENST00000410011.1_Intron|GPR17_ENST00000544369.1_Missense_Mutation_p.E353K|LIMS2_ENST00000324938.5_Intron|LIMS2_ENST00000545738.2_Intron|LIMS2_ENST00000409455.1_Intron|LIMS2_ENST00000355119.4_Intron|GPR17_ENST00000393018.3_Missense_Mutation_p.E353K	NM_001161416.1|NM_001161417.1|NM_005291.2	NP_001154888.1|NP_001154889.1|NP_005282.1	Q13304	GPR17_HUMAN	G protein-coupled receptor 17	353					chemokine-mediated signaling pathway (GO:0070098)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		CCCCAGCTTCGAAGGGAAAAC	0.607																																						ENST00000544369.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19						c.(1057-1059)Gaa>Aaa		G protein-coupled receptor 17		G	,,,LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU,	1,4405		0,1,2202	53.0	65.0	61.0		,,,1057,973,973,1057,	5.5	0.4	2	dbSNP_131	61	0,8598		0,0,4299	no	intron,intron,intron,missense,missense,missense,missense,intron	GPR17,LIMS2	NM_001136037.2,NM_001161403.1,NM_001161404.1,NM_001161415.1,NM_001161416.1,NM_001161417.1,NM_005291.2,NM_017980.4	,,,56,56,56,56,	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	,,,benign,benign,benign,benign,	,,,353/368,325/340,325/340,353/368,	128409282	1,13003	2203	4299	6502	SO:0001583	missense	0					integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled	g.chr2:128409282G>A		CCDS2148.1	2q21	2014-01-30			ENSG00000144230	ENSG00000144230		"""GPCR / Class A : Orphans"""	4471	protein-coding gene	gene with protein product		603071				8558062	Standard	NM_001161415		Approved		uc002tpc.3	Q13304	OTTHUMG00000131533	ENST00000272644.3:c.1057G>A	2.37:g.128409282G>A	ENSP00000272644:p.Glu353Lys					LIMS2_ENST00000545738.2_Intron|GPR17_ENST00000272644.3_Missense_Mutation_p.E353K|LIMS2_ENST00000410011.1_Intron|GPR17_ENST00000393018.3_Missense_Mutation_p.E353K|GPR17_ENST00000486700.1_3'UTR|LIMS2_ENST00000355119.4_Intron|LIMS2_ENST00000324938.5_Intron|LIMS2_ENST00000409808.2_Intron|LIMS2_ENST00000409455.1_Intron	p.E353K	NM_001161415.1	NP_001154887.1	Q13304	GPR17_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0677)	4	1668	+	Colorectal(110;0.1)	Ovarian(717;0.15)	353					A8K9L0|B2R9X0|Q8N5S7|Q9UDZ6|Q9UE21	Missense_Mutation	SNP	ENST00000272644.3	37	c.1057G>A	CCDS2148.1	.	.	.	.	.	.	.	.	.	.	.	11.31	1.599581	0.28534	2.27E-4	0.0	ENSG00000144230	ENST00000544369;ENST00000272644;ENST00000393018	T;T;T	0.36699	1.24;1.24;1.24	5.48	5.48	0.80851	.	0.291015	0.41294	D	0.000911	T	0.22205	0.0535	N	0.08118	0	0.49582	D	0.999809	B	0.20052	0.041	B	0.11329	0.006	T	0.08229	-1.0732	9	.	.	.	.	19.3394	0.94335	0.0:0.0:1.0:0.0	.	353	Q13304	GPR17_HUMAN	K	353	ENSP00000442982:E353K;ENSP00000272644:E353K;ENSP00000376741:E353K	.	E	+	1	0	GPR17	128125752	1.000000	0.71417	0.445000	0.26908	0.172000	0.22775	3.801000	0.55545	2.580000	0.87095	0.555000	0.69702	GAA		0.607	GPR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254390.1			22	109	0	0	0	1	0	22	109				
PLPPR4	9890	broad.mit.edu	37	1	99767329	99767329	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr1:99767329T>C	ENST00000370185.3	+	6	1339	c.842T>C	c.(841-843)cTc>cCc	p.L281P	LPPR4_ENST00000457765.1_Intron|LPPR4_ENST00000370184.1_Missense_Mutation_p.L123P	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		281					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		CTGAAACCTCTCTTGGTCTTC	0.363																																						ENST00000370185.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72						c.(841-843)cTc>cCc									134.0	130.0	132.0					1																	99767329		2203	4300	6503	SO:0001583	missense	0						phosphatidate phosphatase activity	g.chr1:99767329T>C																												ENST00000370185.3:c.842T>C	1.37:g.99767329T>C	ENSP00000359204:p.Leu281Pro					LPPR4_ENST00000370184.1_Missense_Mutation_p.L123P|LPPR4_ENST00000457765.1_Intron	p.L281P	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)	6	1339	+		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)	281					E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	ENST00000370185.3	37	c.842T>C	CCDS757.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.287470	0.80803	.	.	ENSG00000117600	ENST00000370185;ENST00000263178;ENST00000370184	T;T	0.77489	-1.1;-1.1	4.92	4.92	0.64577	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.286229	0.34802	N	0.003668	T	0.81442	0.4823	L	0.55017	1.72	0.80722	D	1	D	0.64830	0.994	D	0.70227	0.968	D	0.84299	0.0504	10	0.72032	D	0.01	-22.0505	14.5573	0.68109	0.0:0.0:0.0:1.0	.	281	Q7Z2D5	LPPR4_HUMAN	P	281;281;123	ENSP00000359204:L281P;ENSP00000359203:L123P	ENSP00000263178:L281P	L	+	2	0	RP4-788L13.1	99539917	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.698000	0.84413	1.836000	0.53414	0.402000	0.26972	CTC		0.363	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			7	72	0	0	0	1	0	7	72				
TUBBP1	92755	broad.mit.edu	37	8	30210244	30210244	+	RNA	SNP	C	C	T			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr8:30210244C>T	ENST00000518096.1	+	0	856									tubulin, beta pseudogene 1																		CACCTGCCTCCGCTTCCCTGG	0.547																																						ENST00000518096.1																			0																																																			0							g.chr8:30210244C>T	J00317		8p12	2012-10-16	2005-11-15		ENSG00000127589	ENSG00000127589			12414	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 1"""			7070533	Standard	NG_001206		Approved				OTTHUMG00000163834		8.37:g.30210244C>T														0	856	+									RNA	SNP	ENST00000518096.1	37																																																																																						0.547	TUBBP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000375880.1	NG_001206		11	56	0	0	0	1	0	11	56				
ATP2B2	491	broad.mit.edu	37	3	10430060	10430060	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr3:10430060G>A	ENST00000352432.4	-	5	877	c.808C>T	c.(808-810)Cgg>Tgg	p.R270W	ATP2B2_ENST00000383800.4_Missense_Mutation_p.R270W|ATP2B2_ENST00000397077.1_Missense_Mutation_p.R270W|ATP2B2_ENST00000360273.2_Missense_Mutation_p.R270W|ATP2B2_ENST00000343816.4_Missense_Mutation_p.R270W			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	270					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						ACCAACATCCGTCCTGAGCCC	0.517																																					Ovarian(125;1619 1709 15675 19819 38835)	ENST00000397077.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						c.(808-810)Cgg>Tgg		ATPase, Ca++ transporting, plasma membrane 2							205.0	180.0	188.0					3																	10430060		2203	4300	6503	SO:0001583	missense	491				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	g.chr3:10430060G>A	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.808C>T	3.37:g.10430060G>A	ENSP00000324172:p.Arg270Trp					ATP2B2_ENST00000383800.4_Missense_Mutation_p.R270W|ATP2B2_ENST00000360273.2_Missense_Mutation_p.R270W|ATP2B2_ENST00000352432.4_Missense_Mutation_p.R270W|ATP2B2_ENST00000343816.4_Missense_Mutation_p.R270W	p.R270W			Q01814	AT2B2_HUMAN			8	1383	-			270					O00766|Q12994|Q16818	Missense_Mutation	SNP	ENST00000352432.4	37	c.808C>T	CCDS33701.1	.	.	.	.	.	.	.	.	.	.	G	20.0	3.929893	0.73327	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000452124;ENST00000342354	D;D;D;D;D;D	0.91011	-2.77;-2.77;-2.77;-2.77;-2.77;-2.77	5.65	-0.786	0.10946	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.114450	0.64402	D	0.000020	D	0.95478	0.8531	M	0.88704	2.975	0.46849	D	0.999221	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.81914	0.993;0.995;0.952;0.983	D	0.95672	0.8724	10	0.87932	D	0	-29.6001	17.7052	0.88306	0.0:0.0:0.2959:0.7041	.	270;236;282;270	Q01814-7;F5H7F7;Q4LE63;Q01814	.;.;.;AT2B2_HUMAN	W	270;270;270;270;270;236;157;270	ENSP00000324172:R270W;ENSP00000373311:R270W;ENSP00000380267:R270W;ENSP00000353414:R270W;ENSP00000344677:R270W;ENSP00000414854:R157W	ENSP00000342954:R270W	R	-	1	2	ATP2B2	10405060	0.336000	0.24757	0.997000	0.53966	0.990000	0.78478	0.511000	0.22739	-0.045000	0.13468	-0.152000	0.13540	CGG		0.517	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683		5	177	0	0	0	1	0	5	177				
LRP2	4036	broad.mit.edu	37	2	170053462	170053462	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr2:170053462T>A	ENST00000263816.3	-	46	8942	c.8657A>T	c.(8656-8658)gAa>gTa	p.E2886V		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2886	LDL-receptor class A 20. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	ACAATCTGTTTCTTGATCACA	0.458																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(8656-8658)gAa>gTa		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						123.0	103.0	110.0					2																	170053462		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170053462T>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.8657A>T	2.37:g.170053462T>A	ENSP00000263816:p.Glu2886Val						p.E2886V	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	46	8942	-			2886			LDL-receptor class A 20.		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.8657A>T	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	T	13.90	2.374385	0.42105	.	.	ENSG00000081479	ENST00000263816	D	0.95853	-3.83	6.17	2.43	0.29744	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.325278	0.37219	N	0.002186	D	0.91616	0.7351	L	0.42632	1.34	0.29282	N	0.869933	P	0.45044	0.849	B	0.43990	0.438	D	0.87262	0.2280	10	0.72032	D	0.01	.	3.9578	0.09398	0.0:0.2831:0.4017:0.3152	.	2886	P98164	LRP2_HUMAN	V	2886	ENSP00000263816:E2886V	ENSP00000263816:E2886V	E	-	2	0	LRP2	169761708	0.004000	0.15560	0.011000	0.14972	0.004000	0.04260	0.352000	0.20113	0.526000	0.28541	0.533000	0.62120	GAA		0.458	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		8	81	0	0	0	1	0	8	81				
ASAH1	427	broad.mit.edu	37	8	17916924	17916924	+	Missense_Mutation	SNP	G	G	T	rs147830297		TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr8:17916924G>T	ENST00000262097.6	-	12	1278	c.967C>A	c.(967-969)Cgt>Agt	p.R323S	ASAH1_ENST00000520781.1_Missense_Mutation_p.R298S|ASAH1_ENST00000381733.4_Missense_Mutation_p.R339S|ASAH1_ENST00000417108.2_Missense_Mutation_p.R233S|ASAH1_ENST00000314146.10_Missense_Mutation_p.R317S	NM_177924.3	NP_808592.2	Q13510	ASAH1_HUMAN	N-acylsphingosine amidohydrolase (acid ceramidase) 1	323					cell death (GO:0008219)|ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|lung development (GO:0030324)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	catalytic activity (GO:0003824)|ceramidase activity (GO:0017040)			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9				Colorectal(111;0.0646)|COAD - Colon adenocarcinoma(73;0.228)		TGTTTCCAACGGTCATAATTT	0.448																																						ENST00000262097.6																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9						c.(967-969)Cgt>Agt		N-acylsphingosine amidohydrolase (acid ceramidase) 1							201.0	178.0	186.0					8																	17916924		2203	4300	6503	SO:0001583	missense	427				ceramide metabolic process	lysosome	ceramidase activity	g.chr8:17916924G>T	U70063	CCDS6005.1, CCDS6006.1, CCDS47813.1	8p22	2007-03-27	2002-09-11	2002-09-13	ENSG00000104763	ENSG00000104763			735	protein-coding gene	gene with protein product		613468	"""N-acylsphingosine amidohydrolase (acid ceramidase)"""	ASAH		8955159, 10610716	Standard	NM_004315		Approved	AC, PHP32, FLJ21558	uc003wyn.2	Q13510	OTTHUMG00000096997	ENST00000262097.6:c.967C>A	8.37:g.17916924G>T	ENSP00000262097:p.Arg323Ser					ASAH1_ENST00000520781.1_Missense_Mutation_p.R298S|ASAH1_ENST00000381733.4_Missense_Mutation_p.R339S|ASAH1_ENST00000417108.2_Missense_Mutation_p.R233S|ASAH1_ENST00000314146.10_Missense_Mutation_p.R317S	p.R323S	NM_177924.3	NP_808592.2	Q13510	ASAH1_HUMAN		Colorectal(111;0.0646)|COAD - Colon adenocarcinoma(73;0.228)	12	1278	-			323					E9PDS0|Q6W898|Q96AS2	Missense_Mutation	SNP	ENST00000262097.6	37	c.967C>A	CCDS6006.1	.	.	.	.	.	.	.	.	.	.	G	18.72	3.685057	0.68157	.	.	ENSG00000104763	ENST00000262097;ENST00000381733;ENST00000520781;ENST00000417108;ENST00000314146	T;T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24;-1.24	5.53	4.65	0.58169	.	0.086593	0.85682	D	0.000000	T	0.80523	0.4639	M	0.83483	2.645	0.50813	D	0.99989	B;B;B;B	0.25719	0.132;0.108;0.132;0.05	B;B;B;B	0.29785	0.107;0.065;0.107;0.107	T	0.78401	-0.2218	10	0.35671	T	0.21	-0.9488	15.9679	0.79987	0.0:0.0:0.8644:0.1356	.	317;339;298;323	E9PDS0;Q13510-2;E7EMM4;Q13510	.;.;.;ASAH1_HUMAN	S	323;339;298;233;317	ENSP00000262097:R323S;ENSP00000371152:R339S;ENSP00000427751:R298S;ENSP00000394125:R233S;ENSP00000326970:R317S	ENSP00000262097:R323S	R	-	1	0	ASAH1	17961204	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	6.949000	0.75971	1.460000	0.47911	0.650000	0.86243	CGT		0.448	ASAH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214077.2	NM_004315		3	62	1	0	1	1	1	3	62				
ACPT	93650	broad.mit.edu	37	19	51297838	51297838	+	Splice_Site	SNP	G	G	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr19:51297838G>A	ENST00000270593.1	+	9	986	c.986G>A	c.(985-987)gGg>gAg	p.G329E	CTD-2568A17.8_ENST00000594114.1_RNA|ACPT_ENST00000270594.3_Splice_Site_p.G236E	NM_033068.2	NP_149059.1	Q9BZG2	PPAT_HUMAN	acid phosphatase, testicular	329						integral component of membrane (GO:0016021)	acid phosphatase activity (GO:0003993)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3)	11		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		AAAGATGGAGGGTGAGAATGG	0.612																																						ENST00000270593.1																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3)	11						c.e9+1		acid phosphatase, testicular							39.0	39.0	39.0					19																	51297838		2203	4300	6503	SO:0001630	splice_region_variant	93650					integral to membrane	acid phosphatase activity	g.chr19:51297838G>A	AF321918	CCDS12802.1	19q13.33	2012-10-02			ENSG00000142513	ENSG00000142513			14376	protein-coding gene	gene with protein product		606362				11414767	Standard	NM_033068		Approved		uc002pta.1	Q9BZG2		ENST00000270593.1:c.986+1G>A	19.37:g.51297838G>A						ACPT_ENST00000270594.3_Splice_Site_p.G236_splice	p.G329_splice	NM_033068.2	NP_149059.1	Q9BZG2	PPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)	9	986	+		all_neural(266;0.057)	329					C0H3P7|Q9BZG3|Q9BZG4	Splice_Site	SNP	ENST00000270593.1	37	c.986_splice	CCDS12802.1	.	.	.	.	.	.	.	.	.	.	g	13.89	2.371379	0.42003	.	.	ENSG00000142513	ENST00000270593;ENST00000270594	T;T	0.78126	2.21;-1.15	3.9	1.75	0.24633	.	0.000000	0.64402	D	0.000001	T	0.68696	0.3029	L	0.45581	1.43	0.31455	N	0.67027	B	0.18968	0.032	B	0.26202	0.067	T	0.69639	-0.5091	10	0.87932	D	0	-23.9614	7.2699	0.26250	0.2391:0.0:0.7609:0.0	.	329	Q9BZG2	PPAT_HUMAN	E	329;236	ENSP00000270593:G329E;ENSP00000270594:G236E	ENSP00000270593:G329E	G	+	2	0	ACPT	55989650	1.000000	0.71417	0.991000	0.47740	0.137000	0.21094	2.697000	0.47060	0.983000	0.38602	0.561000	0.74099	GGG		0.612	ACPT-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464434.1	NM_033068	Missense_Mutation	4	35	0	0	0	1	0	4	35				
PASD1	139135	broad.mit.edu	37	X	150832695	150832695	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chrX:150832695C>G	ENST00000370357.4	+	11	1191	c.946C>G	c.(946-948)Cag>Gag	p.Q316E		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	316						nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CTCAGTGGACCAGGAGGGCCC	0.587																																						ENST00000370357.4																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(946-948)Cag>Gag		PAS domain containing 1							106.0	90.0	96.0					X																	150832695		2203	4300	6503	SO:0001583	missense	139135					nucleus	signal transducer activity	g.chrX:150832695C>G	AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"""cancer/testis antigen 63"""					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.946C>G	X.37:g.150832695C>G	ENSP00000359382:p.Gln316Glu						p.Q316E	NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN			11	1191	+	Acute lymphoblastic leukemia(192;6.56e-05)		316					Q3MNE0|Q69HD7|Q8N7X9	Missense_Mutation	SNP	ENST00000370357.4	37	c.946C>G	CCDS35431.1	.	.	.	.	.	.	.	.	.	.	C	8.667	0.901908	0.17760	.	.	ENSG00000166049	ENST00000370357	T	0.68479	-0.33	3.04	-3.68	0.04463	.	.	.	.	.	T	0.41351	0.1155	N	0.24115	0.695	0.09310	N	1	B	0.16396	0.017	B	0.12837	0.008	T	0.17258	-1.0375	9	0.21540	T	0.41	.	1.5897	0.02651	0.1254:0.3453:0.1699:0.3595	.	316	Q8IV76	PASD1_HUMAN	E	316	ENSP00000359382:Q316E	ENSP00000359382:Q316E	Q	+	1	0	PASD1	150583351	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.406000	0.02490	-1.294000	0.02360	-0.312000	0.09012	CAG		0.587	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493		21	45	0	0	0	1	0	21	45				
MUC16	94025	broad.mit.edu	37	19	9082695	9082695	+	Silent	SNP	T	T	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr19:9082695T>A	ENST00000397910.4	-	1	9323	c.9120A>T	c.(9118-9120)acA>acT	p.T3040T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3041	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAAGGAAGCTTGTTTCTTTCT	0.483																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(9118-9120)acA>acT		mucin 16, cell surface associated							113.0	112.0	113.0					19																	9082695		1999	4182	6181	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9082695T>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.9120A>T	19.37:g.9082695T>A							p.T3040T	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	9323	-			3041			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.9120A>T	CCDS54212.1																																																																																				0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		8	72	0	0	0	1	0	8	72				
GOLGA6L7P	728310	broad.mit.edu	37	15	29092257	29092257	+	RNA	SNP	C	C	T	rs75388271		TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr15:29092257C>T	ENST00000569815.1	-	0	258					NR_047567.1				golgin A6 family-like 7, pseudogene																		TCAGGGTTAGCGCCATGATTT	0.547																																						ENST00000569815.1																			0																																																			0							g.chr15:29092257C>T	AK302238		15q13.1	2012-10-05	2011-04-15	2010-04-20	ENSG00000261649	ENSG00000261649			37442	pseudogene	pseudogene			"""golgi autoantigen, golgin subfamily a, 6-like 7 (pseudogene)"""	GOLGA6L7			Standard	NR_047567		Approved		uc010uar.2		OTTHUMG00000176345		15.37:g.29092257C>T								NR_047567.1						0	258	-									RNA	SNP	ENST00000569815.1	37																																																																																						0.547	GOLGA6L7P-002	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000431796.1	XR_078490		3	26	0	0	0	1	0	3	26				
NEU1	4758	broad.mit.edu	37	6	31828260	31828260	+	Missense_Mutation	SNP	C	C	T	rs145177628		TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr6:31828260C>T	ENST00000375631.4	-	4	883	c.754G>A	c.(754-756)Ggt>Agt	p.G252S		NM_000434.3	NP_000425.1	Q99519	NEUR1_HUMAN	sialidase 1 (lysosomal sialidase)	252					glycosphingolipid metabolic process (GO:0006687)|lipid catabolic process (GO:0016042)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308)			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10					Oseltamivir(DB00198)	TTGGGCTGACCGTAGGGGATG	0.577																																						ENST00000375631.4																			0				kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						c.(754-756)Ggt>Agt		sialidase 1 (lysosomal sialidase)	Oseltamivir(DB00198)|Zanamivir(DB00558)	C	SER/GLY	0,4406		0,0,2203	144.0	120.0	128.0		754	5.3	1.0	6	dbSNP_134	128	2,8598	2.2+/-6.3	0,2,4298	no	missense	NEU1	NM_000434.3	56	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	252/416	31828260	2,13004	2203	4300	6503	SO:0001583	missense	4758					cytoplasmic membrane-bounded vesicle|lysosomal lumen|lysosomal membrane|plasma membrane	exo-alpha-sialidase activity|protein binding	g.chr6:31828260C>T	AF040958	CCDS4723.1	6p21	2012-10-02			ENSG00000204386	ENSG00000204386	3.2.1.18		7758	protein-coding gene	gene with protein product		608272		NEU		9054950	Standard	NM_000434		Approved		uc003nxq.4	Q99519	OTTHUMG00000031284	ENST00000375631.4:c.754G>A	6.37:g.31828260C>T	ENSP00000364782:p.Gly252Ser						p.G252S	NM_000434.3	NP_000425.1	Q99519	NEUR1_HUMAN			4	883	-			252						Missense_Mutation	SNP	ENST00000375631.4	37	c.754G>A	CCDS4723.1	.	.	.	.	.	.	.	.	.	.	C	10.57	1.386365	0.25031	0.0	2.33E-4	ENSG00000204386	ENST00000375631	D	0.89617	-2.54	5.32	5.32	0.75619	Neuraminidase (2);	0.109676	0.64402	D	0.000007	T	0.78298	0.4261	L	0.54323	1.7	0.36665	D	0.878195	P;P	0.51240	0.943;0.935	B;B	0.42422	0.387;0.278	T	0.75539	-0.3282	10	0.14656	T	0.56	-13.2786	9.8179	0.40865	0.0:0.9096:0.0:0.0904	.	252;252	E9PIF4;Q99519	.;NEUR1_HUMAN	S	252	ENSP00000364782:G252S	ENSP00000364782:G252S	G	-	1	0	NEU1	31936239	1.000000	0.71417	0.970000	0.41538	0.068000	0.16541	5.136000	0.64783	2.775000	0.95449	0.655000	0.94253	GGT		0.577	NEU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076616.2			19	101	0	0	0	1	0	19	101				
PDE4DIP	9659	broad.mit.edu	37	1	144916719	144916719	+	Silent	SNP	G	G	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr1:144916719G>A	ENST00000369354.3	-	13	1825	c.1636C>T	c.(1636-1638)Ctg>Ttg	p.L546L	PDE4DIP_ENST00000529945.1_Silent_p.L709L|PDE4DIP_ENST00000313382.9_Silent_p.L612L|PDE4DIP_ENST00000313431.9_Silent_p.L709L|PDE4DIP_ENST00000369356.4_Silent_p.L546L|PDE4DIP_ENST00000369349.3_Silent_p.L546L|PDE4DIP_ENST00000369351.3_Silent_p.L546L|PDE4DIP_ENST00000530740.1_Silent_p.L683L|PDE4DIP_ENST00000479408.2_Silent_p.L333L|PDE4DIP_ENST00000369359.4_Silent_p.L683L			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	546					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCCACTTCCAGGCCTTTGGCC	0.423			T	PDGFRB	MPD																																	ENST00000529945.1				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(2125-2127)Ctg>Ttg		phosphodiesterase 4D interacting protein							234.0	258.0	250.0					1																	144916719		2203	4296	6499	SO:0001819	synonymous_variant	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144916719G>A	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.1636C>T	1.37:g.144916719G>A						PDE4DIP_ENST00000530740.1_Silent_p.L683L|PDE4DIP_ENST00000479408.2_Silent_p.L333L|PDE4DIP_ENST00000369349.3_Silent_p.L546L|PDE4DIP_ENST00000369351.3_Silent_p.L546L|PDE4DIP_ENST00000369354.3_Silent_p.L546L|PDE4DIP_ENST00000369356.4_Silent_p.L546L|PDE4DIP_ENST00000369359.4_Silent_p.L683L|PDE4DIP_ENST00000313431.9_Silent_p.L709L|PDE4DIP_ENST00000313382.9_Silent_p.L612L	p.L709L			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	9	2564	-			546					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	ENST00000369354.3	37	c.2125C>T	CCDS30824.1																																																																																				0.423	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		5	350	0	0	0	1	0	5	350				
TRIOBP	11078	broad.mit.edu	37	22	38120282	38120282	+	Silent	SNP	C	C	T	rs368233775	byFrequency	TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr22:38120282C>T	ENST00000406386.3	+	7	1974	c.1719C>T	c.(1717-1719)gaC>gaT	p.D573D		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	573					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CCACACGAGACAACCCCAGAA	0.587													-|||	10	0.00199681	0.0061	0.0	5008	,	,		27740	0.001		0.001	False		,,,				2504	0.0					ENST00000406386.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1717-1719)gaC>gaT		TRIO and F-actin binding protein		C		7,3759		0,7,1876	56.0	91.0	80.0		1719	-4.7	0.0	22		80	3,8255		0,3,4126	no	coding-synonymous	TRIOBP	NM_001039141.2		0,10,6002	TT,TC,CC		0.0363,0.1859,0.0832		573/2366	38120282	10,12014	1883	4129	6012	SO:0001819	synonymous_variant	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38120282C>T	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.1719C>T	22.37:g.38120282C>T						RP1-37E16.12_ENST00000455236.1_RNA	p.D573D	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			7	1974	+	Melanoma(58;0.0574)		573					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Silent	SNP	ENST00000406386.3	37	c.1719C>T	CCDS43015.1																																																																																				0.587	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			4	174	0	0	0	1	0	4	174				
IFIT5	24138	broad.mit.edu	37	10	91177946	91177946	+	Silent	SNP	C	C	T			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr10:91177946C>T	ENST00000371795.4	+	2	1203	c.990C>T	c.(988-990)gcC>gcT	p.A330A	IFIT5_ENST00000416601.1_Silent_p.A282A	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN	interferon-induced protein with tetratricopeptide repeats 5	330					defense response to virus (GO:0051607)|innate immune response (GO:0045087)	actin cytoskeleton (GO:0015629)|apical part of cell (GO:0045177)|ruffle membrane (GO:0032587)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)|tRNA binding (GO:0000049)			endometrium(1)|large_intestine(4)|lung(4)	9						TCAAAGCAGCCATGGAACGAG	0.433																																						ENST00000371795.4																			0				endometrium(1)|large_intestine(4)|lung(4)	9						c.(988-990)gcC>gcT		interferon-induced protein with tetratricopeptide repeats 5							151.0	142.0	145.0					10																	91177946		2203	4300	6503	SO:0001819	synonymous_variant	24138						binding	g.chr10:91177946C>T	U34605	CCDS7403.1	10q23.31	2013-01-10			ENSG00000152778	ENSG00000152778		"""Tetratricopeptide (TTC) repeat domain containing"""	13328	protein-coding gene	gene with protein product	"""retinoic acid- and interferon-inducible protein (58kD)"""					9398535	Standard	NM_012420		Approved	RI58	uc010qnh.2	Q13325	OTTHUMG00000018713	ENST00000371795.4:c.990C>T	10.37:g.91177946C>T						IFIT5_ENST00000416601.1_Silent_p.A282A	p.A330A	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN			2	1203	+			330					B2R5X9|B4DDV1|Q5T7I9|Q6IAX3	Silent	SNP	ENST00000371795.4	37	c.990C>T	CCDS7403.1																																																																																				0.433	IFIT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049303.1	NM_012420		31	159	0	0	0	1	0	31	159				
OR5F1	338674	broad.mit.edu	37	11	55761664	55761664	+	Silent	SNP	G	G	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr11:55761664G>A	ENST00000278409.1	-	1	437	c.438C>T	c.(436-438)gcC>gcT	p.A146A		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	146					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					CAAAAGCCCCGGCTGCCATTT	0.502																																						ENST00000278409.1																			0				endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58						c.(436-438)gcC>gcT		olfactory receptor, family 5, subfamily F, member 1							41.0	43.0	43.0					11																	55761664		2201	4296	6497	SO:0001819	synonymous_variant	338674				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55761664G>A	AF065863	CCDS31515.1	11q11	2012-08-09			ENSG00000149133	ENSG00000149133		"""GPCR / Class A : Olfactory receptors"""	8343	protein-coding gene	gene with protein product		608492				9787077	Standard	NM_003697		Approved	OR11-10	uc010riv.2	O95221	OTTHUMG00000166825	ENST00000278409.1:c.438C>T	11.37:g.55761664G>A							p.A146A	NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN			1	437	-	Esophageal squamous(21;0.00448)		146					Q495D1|Q6IFB9	Silent	SNP	ENST00000278409.1	37	c.438C>T	CCDS31515.1																																																																																				0.502	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391532.1	NM_003697		4	34	0	0	0	1	0	4	34				
IGHA2	3494	broad.mit.edu	37	14	106054658	106054658	+	RNA	SNP	T	T	G			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr14:106054658T>G	ENST00000390539.2	-	0	74				AL928742.2_ENST00000578042.1_RNA|AL928742.1_ENST00000581377.1_RNA			P01877	IGHA2_HUMAN	immunoglobulin heavy constant alpha 2 (A2m marker)						antibacterial humoral response (GO:0019731)|glomerular filtration (GO:0003094)|immune response (GO:0006955)|positive regulation of respiratory burst (GO:0060267)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|monomeric IgA immunoglobulin complex (GO:0071748)|secretory dimeric IgA immunoglobulin complex (GO:0071752)|secretory IgA immunoglobulin complex (GO:0071751)	antigen binding (GO:0003823)										GGACCAGGCATGCGACGACCA	0.622																																						ENST00000390539.2																			0																				70.0	78.0	75.0					14																	106054658		2094	4203	6297			0							g.chr14:106054658T>G	J00221		14q32.33	2012-10-02			ENSG00000211890	ENSG00000211890		"""Immunoglobulins / IGH locus"""	5479	other	immunoglobulin gene		147000					Standard	NG_001019		Approved			P01877	OTTHUMG00000152472		14.37:g.106054658T>G														0	74	-									RNA	SNP	ENST00000390539.2	37																																																																																						0.622	IGHA2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326338.1	NG_001019		6	82	0	0	0	1	0	6	82				
GRID1	2894	broad.mit.edu	37	10	87407079	87407079	+	Silent	SNP	G	G	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr10:87407079G>A	ENST00000327946.7	-	13	2158	c.2073C>T	c.(2071-2073)ttC>ttT	p.F691F	RP11-93H12.4_ENST00000474115.2_RNA|GRID1_ENST00000536331.1_Silent_p.F262F|RN7SKP238_ENST00000516483.1_RNA	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	691					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						CCTTGGCTCGGAAGTACTCAT	0.552										Multiple Myeloma(13;0.14)																												ENST00000327946.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						c.(2071-2073)ttC>ttT		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)						275.0	257.0	263.0					10																	87407079		2203	4300	6503	SO:0001819	synonymous_variant	2894					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr10:87407079G>A	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.2073C>T	10.37:g.87407079G>A		Multiple Myeloma(13;0.14)				RP11-93H12.4_ENST00000474115.2_RNA|GRID1_ENST00000536331.1_Silent_p.F262F	p.F691F	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN			13	2158	-			691					B3KXD5|B7Z7L0|Q8IXT3	Silent	SNP	ENST00000327946.7	37	c.2073C>T	CCDS31236.1																																																																																				0.552	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		8	331	0	0	0	1	0	8	331				
CCDC17	149483	broad.mit.edu	37	1	46086625	46086625	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr1:46086625G>A	ENST00000528266.1	-	11	1696	c.1549C>T	c.(1549-1551)Ctt>Ttt	p.L517F	CCDC17_ENST00000445048.2_Intron|CCDC17_ENST00000421127.2_Missense_Mutation_p.L508F|CCDC17_ENST00000343901.2_Missense_Mutation_p.L485F|CCDC17_ENST00000464739.1_5'Flank			Q96LX7	CCD17_HUMAN	coiled-coil domain containing 17	517										kidney(1)|large_intestine(1)|lung(1)|ovary(2)	5	Acute lymphoblastic leukemia(166;0.155)					TCCAGAGGAAGGGCCCGAAGT	0.577																																						ENST00000421127.2																			0				kidney(1)|large_intestine(1)|lung(1)|ovary(2)	5						c.(1522-1524)Ctt>Ttt		coiled-coil domain containing 17							41.0	39.0	40.0					1																	46086625		2203	4300	6503	SO:0001583	missense	149483							g.chr1:46086625G>A		CCDS44131.1, CCDS44131.2, CCDS53314.1	1p34.1	2014-02-12			ENSG00000159588	ENSG00000159588			26574	protein-coding gene	gene with protein product							Standard	NM_001190182		Approved	FLJ33084	uc010olt.2	Q96LX7	OTTHUMG00000007822	ENST00000528266.1:c.1549C>T	1.37:g.46086625G>A	ENSP00000432172:p.Leu517Phe					CCDC17_ENST00000343901.2_Missense_Mutation_p.L485F|CCDC17_ENST00000528266.1_Missense_Mutation_p.L517F|CCDC17_ENST00000445048.2_Intron	p.L508F	NM_001114938.2|NM_001190182.1	NP_001108410.2|NP_001177111.1	Q96LX7	CCD17_HUMAN			11	1665	-	Acute lymphoblastic leukemia(166;0.155)		517					A1A4Y7|B4DNX7|B4E1Q5|C9J8L2|Q0P683|Q5T629	Missense_Mutation	SNP	ENST00000528266.1	37	c.1522C>T	CCDS44131.2	.	.	.	.	.	.	.	.	.	.	G	13.15	2.152538	0.38021	.	.	ENSG00000159588	ENST00000421127;ENST00000343901;ENST00000528266	T;T;T	0.56275	0.47;0.47;0.47	5.81	3.85	0.44370	.	0.623048	0.15559	N	0.256047	T	0.46698	0.1406	L	0.56769	1.78	0.26366	N	0.976977	B;B;B	0.23249	0.082;0.082;0.082	B;B;B	0.25140	0.058;0.058;0.058	T	0.36768	-0.9734	10	0.28530	T	0.3	-1.5311	8.1926	0.31376	0.268:0.0:0.732:0.0	.	517;508;485	Q96LX7;Q96LX7-5;F2Z395	CCD17_HUMAN;.;.	F	508;485;517	ENSP00000389415:L508F;ENSP00000341451:L485F;ENSP00000432172:L517F	ENSP00000341451:L485F	L	-	1	0	CCDC17	45859212	0.987000	0.35691	0.920000	0.36463	0.547000	0.35210	2.542000	0.45744	0.696000	0.31696	0.655000	0.94253	CTT		0.577	CCDC17-008	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386833.1	NM_152500		5	22	0	0	0	1	0	5	22				
ZNF681	148213	broad.mit.edu	37	19	23927307	23927307	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr19:23927307G>T	ENST00000402377.3	-	4	1186	c.1045C>A	c.(1045-1047)Cag>Aag	p.Q349K	ZNF681_ENST00000395385.3_Missense_Mutation_p.Q280K	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	349					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TGTGAGGACTGGTTAAAGGCT	0.433																																						ENST00000402377.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21						c.(1045-1047)Cag>Aag		zinc finger protein 681							83.0	86.0	85.0					19																	23927307		2203	4300	6503	SO:0001583	missense	148213				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:23927307G>T	AK056088	CCDS12414.2	19p12	2013-01-08			ENSG00000196172	ENSG00000196172		"""Zinc fingers, C2H2-type"", ""-"""	26457	protein-coding gene	gene with protein product	"""hypothetical protein FLJ31526"""						Standard	NM_138286		Approved	FLJ31526	uc002nrk.4	Q96N22	OTTHUMG00000150831	ENST00000402377.3:c.1045C>A	19.37:g.23927307G>T	ENSP00000384000:p.Gln349Lys					ZNF681_ENST00000395385.3_Missense_Mutation_p.Q280K	p.Q349K	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN			4	1186	-		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)	349					B3KVF7	Missense_Mutation	SNP	ENST00000402377.3	37	c.1045C>A	CCDS12414.2	.	.	.	.	.	.	.	.	.	.	.	2.396	-0.338635	0.05243	.	.	ENSG00000196172	ENST00000402377;ENST00000395385	T;T	0.07327	5.32;3.2	0.738	-1.48	0.08745	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04272	0.0118	L	0.33792	1.035	0.09310	N	1	P	0.35872	0.525	B	0.23574	0.047	T	0.33752	-0.9856	9	0.35671	T	0.21	.	2.7116	0.05176	0.2276:0.0:0.5047:0.2676	.	349	Q96N22	ZN681_HUMAN	K	349;280	ENSP00000384000:Q349K;ENSP00000378783:Q280K	ENSP00000378783:Q280K	Q	-	1	0	ZNF681	23719147	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.081000	0.01367	-0.924000	0.03780	-0.518000	0.04402	CAG		0.433	ZNF681-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320248.2	NM_138286		3	97	1	0	0.00909568	1	0.00955046	3	97				
CACNA2D4	93589	broad.mit.edu	37	12	2022195	2022195	+	Silent	SNP	C	C	T	rs182825786		TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr12:2022195C>T	ENST00000382722.5	-	3	782	c.420G>A	c.(418-420)gcG>gcA	p.A140A	CACNA2D4_ENST00000585732.1_Silent_p.A140A|CACNA2D4_ENST00000585708.1_Silent_p.A76A|CACNA2D4_ENST00000587995.1_Silent_p.A140A|CACNA2D4_ENST00000586184.1_Silent_p.A140A|CACNA2D4_ENST00000588077.1_Silent_p.A76A	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	140					calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GTACCTGGACCGCCTCGACTT	0.597																																					Colon(2;101 179 21030 23310 28141)	ENST00000382722.5																			0				endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(418-420)gcG>gcA		calcium channel, voltage-dependent, alpha 2/delta subunit 4							103.0	120.0	114.0					12																	2022195		2133	4246	6379	SO:0001819	synonymous_variant	93589					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr12:2022195C>T	AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"""Calcium channel subunits"""	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.420G>A	12.37:g.2022195C>T						CACNA2D4_ENST00000587995.1_Silent_p.A140A|CACNA2D4_ENST00000585732.1_Silent_p.A140A|CACNA2D4_ENST00000585708.1_Silent_p.A76A|CACNA2D4_ENST00000586184.1_Silent_p.A140A|CACNA2D4_ENST00000588077.1_Silent_p.A76A	p.A140A	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)	3	782	-	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	140					Q7Z3S8|Q86XZ5|Q8IZS9	Silent	SNP	ENST00000382722.5	37	c.420G>A	CCDS44785.1																																																																																				0.597	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398230.2			8	30	0	0	0	1	0	8	30				
ZNF709	163051	broad.mit.edu	37	19	12575498	12575498	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr19:12575498G>A	ENST00000397732.3	-	4	1409	c.1238C>T	c.(1237-1239)aCt>aTt	p.T413I	ZNF709_ENST00000428311.1_Missense_Mutation_p.T413I|CTD-3105H18.18_ENST00000598753.1_Intron	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	413					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T413I(2)		large_intestine(3)|upper_aerodigestive_tract(3)	6						TCCAGTGTGAGTTCTTTCATG	0.418																																					GBM(33;565 669 12371 29134 51667)	ENST00000397732.3																			2	Substitution - Missense(2)	p.T413I(2)	kidney(1)|skin(1)	large_intestine(3)|upper_aerodigestive_tract(3)	6						c.(1237-1239)aCt>aTt		zinc finger protein 709							106.0	111.0	109.0					19																	12575498		2202	4299	6501	SO:0001583	missense	163051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12575498G>A	AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"""Zinc fingers, C2H2-type"", ""-"""	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.1238C>T	19.37:g.12575498G>A	ENSP00000380840:p.Thr413Ile					CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.T413I	p.T413I	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN			4	1409	-			413					A8K4E6	Missense_Mutation	SNP	ENST00000397732.3	37	c.1238C>T	CCDS42504.1	.	.	.	.	.	.	.	.	.	.	G	0.031	-1.333208	0.01298	.	.	ENSG00000242852;ENSG00000196826	ENST00000397732;ENST00000428311	T;T	0.06142	3.34;3.34	3.05	-3.79	0.04320	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35067	N	0.003471	T	0.01976	0.0062	N	0.11000	0.08	0.09310	N	1	B	0.28258	0.205	B	0.25884	0.064	T	0.43814	-0.9368	10	0.02654	T	1	.	5.8441	0.18652	0.2644:0.3999:0.3357:0.0	.	413	Q8N972	ZN709_HUMAN	I	413	ENSP00000380840:T413I;ENSP00000404127:T413I	ENSP00000404127:T413I	T	-	2	0	ZNF709;CTD-2192J16.17	12436498	0.000000	0.05858	0.002000	0.10522	0.972000	0.66771	-2.485000	0.00979	-0.610000	0.05716	0.591000	0.81541	ACT		0.418	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601		4	98	0	0	0	1	0	4	98				
ZNF485	220992	broad.mit.edu	37	10	44112021	44112021	+	Missense_Mutation	SNP	A	A	G	rs372395438	byFrequency	TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr10:44112021A>G	ENST00000361807.3	+	5	724	c.530A>G	c.(529-531)cAt>cGt	p.H177R	ZNF485_ENST00000374435.3_Missense_Mutation_p.H177R|ZNF485_ENST00000374437.2_Missense_Mutation_p.H86R	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	177					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						TTAAATCACCATAAGGTTCAT	0.393													A|||	2	0.000399361	0.0015	0.0	5008	,	,		21066	0.0		0.0	False		,,,				2504	0.0					ENST00000361807.3																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						c.(529-531)cAt>cGt		zinc finger protein 485		A	ARG/HIS	0,4406		0,0,2203	106.0	103.0	104.0		530	-1.5	0.1	10		104	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF485	NM_145312.3	29	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign	177/442	44112021	1,13005	2203	4300	6503	SO:0001583	missense	220992				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:44112021A>G	AK074679	CCDS7205.2	10q11.21	2013-01-08			ENSG00000198298	ENSG00000198298		"""Zinc fingers, C2H2-type"", ""-"""	23440	protein-coding gene	gene with protein product							Standard	NM_145312		Approved		uc010qfc.2	Q8NCK3	OTTHUMG00000018040	ENST00000361807.3:c.530A>G	10.37:g.44112021A>G	ENSP00000354694:p.His177Arg					ZNF485_ENST00000374437.2_Missense_Mutation_p.H86R|ZNF485_ENST00000374435.3_Missense_Mutation_p.H177R	p.H177R	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN			5	724	+			177					B4DSE6|Q96CL0	Missense_Mutation	SNP	ENST00000361807.3	37	c.530A>G	CCDS7205.2	.	.	.	.	.	.	.	.	.	.	A	2.554	-0.303305	0.05495	0.0	1.16E-4	ENSG00000198298	ENST00000361807;ENST00000374437;ENST00000374435	T;T;T	0.07114	3.22;3.22;3.22	2.52	-1.52	0.08637	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02649	0.0080	N	0.02142	-0.665	0.09310	N	0.999999	B	0.02656	0.0	B	0.15052	0.012	T	0.41556	-0.9502	9	0.46703	T	0.11	.	3.0456	0.06152	0.5725:0.0:0.2434:0.1841	.	177	Q8NCK3	ZN485_HUMAN	R	177;86;177	ENSP00000354694:H177R;ENSP00000363560:H86R;ENSP00000363558:H177R	ENSP00000354694:H177R	H	+	2	0	ZNF485	43432027	0.000000	0.05858	0.134000	0.22075	0.075000	0.17131	-0.565000	0.05929	-0.363000	0.08101	-0.609000	0.04063	CAT		0.393	ZNF485-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047719.2	NM_145312		18	84	0	0	0	1	0	18	84				
HECTD3	79654	broad.mit.edu	37	1	45472380	45472380	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr1:45472380A>C	ENST00000372172.4	-	13	1780	c.1709T>G	c.(1708-1710)gTa>gGa	p.V570G	HECTD3_ENST00000486132.1_5'Flank|HECTD3_ENST00000372168.3_Missense_Mutation_p.V180G	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3	570	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					GGCTGTGCGTACAAAGAAGGG	0.572																																						ENST00000372172.4																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28						c.(1708-1710)gTa>gGa		HECT domain containing E3 ubiquitin protein ligase 3							66.0	70.0	69.0					1																	45472380		1969	4133	6102	SO:0001583	missense	79654				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	ubiquitin-protein ligase activity	g.chr1:45472380A>C	BC019105	CCDS41318.1	1p34.1	2012-02-23	2012-02-23		ENSG00000126107	ENSG00000126107			26117	protein-coding gene	gene with protein product			"""HECT domain containing 3"""			12477932	Standard	NM_024602		Approved	FLJ21156	uc009vxk.3	Q5T447	OTTHUMG00000008587	ENST00000372172.4:c.1709T>G	1.37:g.45472380A>C	ENSP00000361245:p.Val570Gly					HECTD3_ENST00000372168.3_Missense_Mutation_p.V180G	p.V570G	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN			13	1780	-	Acute lymphoblastic leukemia(166;0.155)		570			HECT.		B3KPV7|B3KRH4|Q5T448|Q9H783	Missense_Mutation	SNP	ENST00000372172.4	37	c.1709T>G	CCDS41318.1	.	.	.	.	.	.	.	.	.	.	.	15.10	2.734106	0.48939	.	.	ENSG00000126107	ENST00000372172;ENST00000372168	T;T	0.61510	0.1;0.39	5.3	5.3	0.74995	HECT (3);	0.420057	0.26975	N	0.021556	T	0.58991	0.2161	M	0.71581	2.175	0.58432	D	0.999995	B;P	0.38078	0.44;0.617	B;B	0.36504	0.196;0.226	T	0.66228	-0.5976	10	0.87932	D	0	.	15.4114	0.74923	1.0:0.0:0.0:0.0	.	570;180	Q5T447;Q5T447-2	HECD3_HUMAN;.	G	570;180	ENSP00000361245:V570G;ENSP00000361241:V180G	ENSP00000361241:V180G	V	-	2	0	HECTD3	45244967	0.993000	0.37304	1.000000	0.80357	0.993000	0.82548	2.811000	0.47986	2.220000	0.72140	0.533000	0.62120	GTA		0.572	HECTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023734.1	NM_024602		12	84	0	0	0	1	0	12	84				
RB1	5925	broad.mit.edu	37	13	48941653	48941653	+	Silent	SNP	C	C	T	rs377235036		TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr13:48941653C>T	ENST00000267163.4	+	10	1101	c.963C>T	c.(961-963)taC>taT	p.Y321Y		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	321					androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(7)|p.Y321*(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CTAAACGATACGAAGAAATTT	0.318		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												ENST00000267163.4		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	"""D, Mis, N, F, S"""	retinoblastoma gene			"""L, E, M, O"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""		23	Whole gene deletion(15)|Unknown(7)|Substitution - Nonsense(1)	p.0?(15)|p.?(7)|p.Y321*(1)	bone(11)|breast(5)|adrenal_gland(1)|eye(1)|soft_tissue(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)|lung(1)	NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496	GRCh37	CM034899	RB1	M		c.(961-963)taC>taT		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	C		1,4389	2.1+/-5.4	0,1,2194	55.0	66.0	63.0		963	1.5	1.0	13		63	0,8568		0,0,4284	no	coding-synonymous	RB1	NM_000321.2		0,1,6478	TT,TC,CC		0.0,0.0228,0.0077		321/929	48941653	1,12957	2195	4284	6479	SO:0001819	synonymous_variant	5925	Hereditary Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48941653C>T	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.963C>T	13.37:g.48941653C>T		TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.Y321Y	NM_000321.2	NP_000312.2	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	10	1101	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	321					A8K5E3|P78499|Q5VW46|Q8IZL4	Silent	SNP	ENST00000267163.4	37	c.963C>T	CCDS31973.1																																																																																				0.318	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			15	60	0	0	0	1	0	15	60				
HNRNPF	3185	broad.mit.edu	37	10	43882502	43882502	+	Silent	SNP	G	G	A	rs566452971		TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr10:43882502G>A	ENST00000544000.1	-	4	1238	c.831C>T	c.(829-831)ggC>ggT	p.G277G	HNRNPF_ENST00000356053.3_Silent_p.G277G|HNRNPF_ENST00000337970.3_Silent_p.G277G|HNRNPF_ENST00000443950.2_Silent_p.G277G|HNRNPF_ENST00000498176.1_5'Flank|HNRNPF_ENST00000357065.4_Silent_p.G277G	NM_001098207.1	NP_001091677.1	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	277					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						ACTCACTGTCGCCGTATCTGT	0.552													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18509	0.0		0.0	False		,,,				2504	0.0					ENST00000443950.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						c.(829-831)ggC>ggT		heterogeneous nuclear ribonucleoprotein F							58.0	51.0	53.0					10																	43882502		2203	4300	6503	SO:0001819	synonymous_variant	3185				regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:43882502G>A		CCDS7204.1	10q11.21	2013-02-12		2008-04-18	ENSG00000169813	ENSG00000169813		"""RNA binding motif (RRM) containing"""	5039	protein-coding gene	gene with protein product		601037		HNRPF		7499401	Standard	NM_001098208		Approved		uc001jas.2	P52597	OTTHUMG00000018029	ENST00000544000.1:c.831C>T	10.37:g.43882502G>A						HNRNPF_ENST00000544000.1_Silent_p.G277G|HNRNPF_ENST00000357065.4_Silent_p.G277G|HNRNPF_ENST00000337970.3_Silent_p.G277G|HNRNPF_ENST00000356053.3_Silent_p.G277G	p.G277G	NM_001098208.1	NP_001091678.1	P52597	HNRPF_HUMAN			3	1317	-			277					B3KM84|Q5T0N2|Q96AU2	Silent	SNP	ENST00000544000.1	37	c.831C>T	CCDS7204.1																																																																																				0.552	HNRNPF-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047705.2			9	26	0	0	0	1	0	9	26				
PDE4DIP	9659	broad.mit.edu	37	1	144916719	144916719	+	Silent	SNP	G	G	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr1:144916719G>A	ENST00000369354.3	-	13	1825	c.1636C>T	c.(1636-1638)Ctg>Ttg	p.L546L	PDE4DIP_ENST00000529945.1_Silent_p.L709L|PDE4DIP_ENST00000313382.9_Silent_p.L612L|PDE4DIP_ENST00000313431.9_Silent_p.L709L|PDE4DIP_ENST00000369356.4_Silent_p.L546L|PDE4DIP_ENST00000369349.3_Silent_p.L546L|PDE4DIP_ENST00000369351.3_Silent_p.L546L|PDE4DIP_ENST00000530740.1_Silent_p.L683L|PDE4DIP_ENST00000479408.2_Silent_p.L333L|PDE4DIP_ENST00000369359.4_Silent_p.L683L			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	546					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCCACTTCCAGGCCTTTGGCC	0.423			T	PDGFRB	MPD																																	ENST00000529945.1				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(2125-2127)Ctg>Ttg		phosphodiesterase 4D interacting protein							234.0	258.0	250.0					1																	144916719		2203	4296	6499	SO:0001819	synonymous_variant	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144916719G>A	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.1636C>T	1.37:g.144916719G>A						PDE4DIP_ENST00000313431.9_Silent_p.L709L|PDE4DIP_ENST00000479408.2_Silent_p.L333L|PDE4DIP_ENST00000369359.4_Silent_p.L683L|PDE4DIP_ENST00000530740.1_Silent_p.L683L|PDE4DIP_ENST00000369356.4_Silent_p.L546L|PDE4DIP_ENST00000313382.9_Silent_p.L612L|PDE4DIP_ENST00000369349.3_Silent_p.L546L|PDE4DIP_ENST00000369351.3_Silent_p.L546L|PDE4DIP_ENST00000369354.3_Silent_p.L546L	p.L709L			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	9	2564	-			546					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	ENST00000369354.3	37	c.2125C>T	CCDS30824.1																																																																																				0.423	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		5	350	0	0	0	1	0	5	350				
DNM1P47	100216544	broad.mit.edu	37	15	102304772	102304772	+	RNA	SNP	T	T	C	rs199967915	byFrequency	TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr15:102304772T>C	ENST00000561463.1	+	0	12818									DNM1 pseudogene 47																		CACAGCGGCGTGACGAGACTC	0.587																																						ENST00000561463.1																			0																																																			0							g.chr15:102304772T>C	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102304772T>C														0	12818	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.587	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		3	28	0	0	0	1	0	3	28				
GLDC	2731	broad.mit.edu	37	9	6540103	6540103	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr9:6540103T>G	ENST00000321612.6	-	22	2763	c.2613A>C	c.(2611-2613)aaA>aaC	p.K871N	RN7SL25P_ENST00000583862.1_RNA	NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	871					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|glycine dehydrogenase (decarboxylating) activity (GO:0004375)|lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)	TTGCAGACTTTTTGAAGGGTC	0.453																																						ENST00000321612.6																			0				cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(2611-2613)aaA>aaC		glycine dehydrogenase (decarboxylating)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)						135.0	116.0	123.0					9																	6540103		2203	4300	6503	SO:0001583	missense	2731				glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding	g.chr9:6540103T>G	D90239	CCDS34987.1	9p22	2014-09-17	2006-05-22		ENSG00000178445	ENSG00000178445	1.4.4.2		4313	protein-coding gene	gene with protein product	"""glycine cleavage system protein P"", ""glycine decarboxylase"""	238300	"""glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein P)"""			1993704, 1996985	Standard	NM_000170		Approved	GCSP, NKH	uc003zkc.3	P23378	OTTHUMG00000019524	ENST00000321612.6:c.2613A>C	9.37:g.6540103T>G	ENSP00000370737:p.Lys871Asn						p.K871N	NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	22	2763	-		Acute lymphoblastic leukemia(23;0.161)	871					Q2M2F8	Missense_Mutation	SNP	ENST00000321612.6	37	c.2613A>C	CCDS34987.1	.	.	.	.	.	.	.	.	.	.	T	18.03	3.532829	0.64972	.	.	ENSG00000178445	ENST00000321612	D	0.86366	-2.11	5.16	1.47	0.22746	Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.94262	0.8157	H	0.96518	3.835	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	D	0.92733	0.6201	10	0.66056	D	0.02	-20.0689	8.5626	0.33520	0.0:0.3814:0.0:0.6186	.	871	P23378	GCSP_HUMAN	N	871	ENSP00000370737:K871N	ENSP00000370737:K871N	K	-	3	2	GLDC	6530103	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	0.504000	0.22626	0.348000	0.23949	0.482000	0.46254	AAA		0.453	GLDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051674.2	NM_000170		26	93	0	0	0	1	0	26	93				
LPHN3	23284	broad.mit.edu	37	4	62679557	62679557	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr4:62679557T>A	ENST00000514591.1	+	8	1555	c.1226T>A	c.(1225-1227)aTt>aAt	p.I409N	LPHN3_ENST00000545650.1_Missense_Mutation_p.I409N|LPHN3_ENST00000504896.1_Missense_Mutation_p.I409N|LPHN3_ENST00000508946.1_Missense_Mutation_p.I409N|LPHN3_ENST00000514996.1_Missense_Mutation_p.I409N|LPHN3_ENST00000506720.1_Missense_Mutation_p.I477N|LPHN3_ENST00000509896.1_Missense_Mutation_p.I477N|LPHN3_ENST00000507625.1_Missense_Mutation_p.I477N|LPHN3_ENST00000506746.1_Missense_Mutation_p.I477N|LPHN3_ENST00000514157.1_Missense_Mutation_p.I409N|LPHN3_ENST00000512091.2_Missense_Mutation_p.I409N|LPHN3_ENST00000507164.1_Missense_Mutation_p.I477N|LPHN3_ENST00000506700.1_Missense_Mutation_p.I409N|LPHN3_ENST00000508693.1_Missense_Mutation_p.I477N|LPHN3_ENST00000511324.1_Missense_Mutation_p.I477N			Q9HAR2	LPHN3_HUMAN	latrophilin 3	409					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						gtttcatacatttctccgcca	0.363																																						ENST00000512091.1																			0				breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						c.(1225-1227)aTt>aAt		latrophilin 3							128.0	120.0	122.0					4																	62679557		1936	4143	6079	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62679557T>A	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.1226T>A	4.37:g.62679557T>A	ENSP00000422533:p.Ile409Asn					LPHN3_ENST00000514157.1_Missense_Mutation_p.I409N|LPHN3_ENST00000514996.1_Missense_Mutation_p.I409N|LPHN3_ENST00000508946.1_Missense_Mutation_p.I409N|LPHN3_ENST00000545650.1_Missense_Mutation_p.I409N|LPHN3_ENST00000506720.1_Missense_Mutation_p.I477N|LPHN3_ENST00000507625.1_Missense_Mutation_p.I477N|LPHN3_ENST00000504896.1_Missense_Mutation_p.I409N|LPHN3_ENST00000509896.1_Missense_Mutation_p.I477N|LPHN3_ENST00000514591.1_Missense_Mutation_p.I409N|LPHN3_ENST00000508693.1_Missense_Mutation_p.I477N|LPHN3_ENST00000506700.1_Missense_Mutation_p.I409N|LPHN3_ENST00000507164.1_Missense_Mutation_p.I477N|LPHN3_ENST00000506746.1_Missense_Mutation_p.I477N|LPHN3_ENST00000511324.1_Missense_Mutation_p.I477N	p.I409N			Q9HAR2	LPHN3_HUMAN			8	1973	+			409					E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.1226T>A	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	T	12.24	1.877518	0.33162	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000534975;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.70399	-0.45;-0.45;-0.48;-0.48;-0.45;-0.45;-0.48;-0.48;-0.47;-0.44;-0.44;-0.43;-0.46;-0.46;-0.43	3.67	3.67	0.42095	.	0.534833	0.19481	N	0.113211	T	0.50531	0.1621	N	0.19112	0.55	0.31286	N	0.690009	B;B	0.34147	0.438;0.171	B;B	0.29862	0.108;0.048	T	0.55995	-0.8052	10	0.33141	T	0.24	.	9.0114	0.36144	0.0:0.0:0.0:1.0	.	409;409	E9PE04;Q9HAR2-2	.;.	N	409;409;477;477;409;409;409;409;409;477;477;477;409;409;409;477;477;409	ENSP00000423388:I409N;ENSP00000422533:I409N;ENSP00000423787:I477N;ENSP00000425033:I477N;ENSP00000424120:I409N;ENSP00000439831:I409N;ENSP00000421476:I477N;ENSP00000424030:I477N;ENSP00000421372:I477N;ENSP00000425201:I409N;ENSP00000423434:I409N;ENSP00000421627:I409N;ENSP00000420931:I477N;ENSP00000425884:I477N;ENSP00000424258:I409N	ENSP00000280009:I409N	I	+	2	0	LPHN3	62362152	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	2.916000	0.48813	1.900000	0.55004	0.460000	0.39030	ATT		0.363	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			10	39	0	0	0	1	0	10	39				
JPH4	84502	broad.mit.edu	37	14	24040525	24040525	+	Missense_Mutation	SNP	C	C	T	rs374663076		TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr14:24040525C>T	ENST00000397118.3	-	6	2317	c.1415G>A	c.(1414-1416)cGa>cAa	p.R472Q	JPH4_ENST00000544177.1_Missense_Mutation_p.R137Q|JPH4_ENST00000356300.4_Missense_Mutation_p.R472Q	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	472					calcium ion transport into cytosol (GO:0060402)|learning (GO:0007612)|neuromuscular process controlling balance (GO:0050885)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic plasticity (GO:0048167)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		GGCAGGGGGTCGCCAGGGTTG	0.682																																						ENST00000397118.3																			0				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1414-1416)cGa>cAa		junctophilin 4		C	GLN/ARG,GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	33.0	38.0	37.0		1415,1415	4.2	1.0	14		37	0,8600		0,0,4300	no	missense,missense	JPH4	NM_001146028.1,NM_032452.2	43,43	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging,probably-damaging	472/629,472/629	24040525	2,13004	2203	4300	6503	SO:0001583	missense	84502				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane		g.chr14:24040525C>T	AB058734	CCDS9603.1	14q11	2004-05-28	2004-05-28	2004-05-28	ENSG00000092051	ENSG00000092051			20156	protein-coding gene	gene with protein product			"""junctophilin like 1"""	JPHL1		11347906	Standard	NM_032452		Approved	KIAA1831	uc001wkr.2	Q96JJ6	OTTHUMG00000028769	ENST00000397118.3:c.1415G>A	14.37:g.24040525C>T	ENSP00000380307:p.Arg472Gln					JPH4_ENST00000544177.1_Missense_Mutation_p.R137Q|JPH4_ENST00000356300.4_Missense_Mutation_p.R472Q	p.R472Q	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN		GBM - Glioblastoma multiforme(265;0.00654)	6	2317	-	all_cancers(95;0.000251)		472					D3DS53|Q8ND44|Q96DQ0	Missense_Mutation	SNP	ENST00000397118.3	37	c.1415G>A	CCDS9603.1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.515903	0.44763	4.54E-4	0.0	ENSG00000092051	ENST00000356300;ENST00000397118;ENST00000543864;ENST00000267407;ENST00000544177	T;T;T	0.57107	0.42;0.42;0.76	5.17	4.23	0.50019	.	0.687587	0.10286	U	0.692970	T	0.41558	0.1164	N	0.14661	0.345	0.27518	N	0.95147	D;P	0.71674	0.998;0.918	P;B	0.49561	0.615;0.194	T	0.06023	-1.0850	10	0.14656	T	0.56	.	11.5338	0.50626	0.1783:0.8217:0.0:0.0	.	137;472	F5H1L9;Q96JJ6	.;JPH4_HUMAN	Q	472;472;472;473;137	ENSP00000348648:R472Q;ENSP00000380307:R472Q;ENSP00000439562:R137Q	ENSP00000267407:R473Q	R	-	2	0	JPH4	23110365	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.190000	0.32126	2.575000	0.86900	0.655000	0.94253	CGA		0.682	JPH4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413853.1	NM_032452		7	38	0	0	0	1	0	7	38				
FOXN3	1112	broad.mit.edu	37	14	89878584	89878584	+	Silent	SNP	C	C	T			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr14:89878584C>T	ENST00000345097.4	-	2	353	c.237G>A	c.(235-237)tcG>tcA	p.S79S	RP11-33N16.2_ENST00000556383.1_RNA|FOXN3_ENST00000261302.5_Silent_p.S79S|FOXN3_ENST00000557258.1_Silent_p.S79S|RP11-33N16.3_ENST00000555070.1_RNA|FOXN3_ENST00000555353.1_Silent_p.S79S	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN	forkhead box N3	79					mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCCTGAGGACCGACTCCCCAA	0.587																																						ENST00000345097.4																			0				endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(235-237)tcG>tcA		forkhead box N3							76.0	65.0	69.0					14																	89878584		2203	4300	6503	SO:0001819	synonymous_variant	1112				DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr14:89878584C>T		CCDS32138.1, CCDS41977.1	14q32.11	2012-04-17	2007-05-02	2007-05-02	ENSG00000053254	ENSG00000053254		"""Forkhead boxes"""	1928	protein-coding gene	gene with protein product		602628	"""chromosome 14 open reading frame 116"", ""checkpoint suppressor 1"""	C14orf116, CHES1		9154802	Standard	NM_005197		Approved		uc001xxo.4	O00409	OTTHUMG00000170898	ENST00000345097.4:c.237G>A	14.37:g.89878584C>T						FOXN3_ENST00000555353.1_Silent_p.S79S|FOXN3_ENST00000557258.1_Silent_p.S79S|FOXN3_ENST00000261302.5_Silent_p.S79S	p.S79S	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN			2	353	-			79					Q96II7|Q9UIE7	Silent	SNP	ENST00000345097.4	37	c.237G>A	CCDS41977.1																																																																																				0.587	FOXN3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410902.2	NM_005197		13	62	0	0	0	1	0	13	62				
PLK3	1263	broad.mit.edu	37	1	45270100	45270100	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr1:45270100T>C	ENST00000372201.4	+	12	1671	c.1432T>C	c.(1432-1434)Tat>Cat	p.Y478H	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	478	POLO box 1. {ECO:0000255|PROSITE- ProRule:PRU00154}.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cytoplasmic microtubule organization (GO:0031122)|endomitotic cell cycle (GO:0007113)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi disassembly (GO:0090166)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G1/S transition checkpoint (GO:0044819)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia (GO:2000777)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of cell division (GO:0051302)|regulation of cytokinesis (GO:0032465)|response to osmotic stress (GO:0006970)|response to radiation (GO:0009314)|response to reactive oxygen species (GO:0000302)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi stack (GO:0005795)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					CGGCTTTGGGTATCAACTGTC	0.572																																						ENST00000372201.4																			0				endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1432-1434)Tat>Cat		polo-like kinase 3							67.0	75.0	73.0					1																	45270100		2203	4300	6503	SO:0001583	missense	1263					membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:45270100T>C	AJ293866	CCDS515.1	1p34.1	2013-01-18	2010-06-24	2004-01-28	ENSG00000173846	ENSG00000173846			2154	protein-coding gene	gene with protein product		602913	"""cytokine-inducible kinase"", ""polo-like kinase 3 (Drosophila)"""	CNK		8702627	Standard	NM_004073		Approved	FNK, PRK	uc001cmn.3	Q9H4B4	OTTHUMG00000008491	ENST00000372201.4:c.1432T>C	1.37:g.45270100T>C	ENSP00000361275:p.Tyr478His					PLK3_ENST00000465443.1_3'UTR	p.Y478H	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN			12	1671	+	Acute lymphoblastic leukemia(166;0.155)		478			POLO box 1.		Q15767|Q5JR99|Q96CV1	Missense_Mutation	SNP	ENST00000372201.4	37	c.1432T>C	CCDS515.1	.	.	.	.	.	.	.	.	.	.	t	21.6	4.167710	0.78339	.	.	ENSG00000173846	ENST00000372201;ENST00000543983	T	0.27256	1.68	5.22	5.22	0.72569	POLO box duplicated domain (2);	.	.	.	.	T	0.61515	0.2353	M	0.93462	3.42	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72972	-0.4129	9	0.87932	D	0	-9.447	14.6063	0.68481	0.0:0.0:0.0:1.0	.	478	Q9H4B4	PLK3_HUMAN	H	478;453	ENSP00000361275:Y478H	ENSP00000361275:Y478H	Y	+	1	0	PLK3	45042687	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.031000	0.88826	2.105000	0.64084	0.529000	0.55759	TAT		0.572	PLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023429.1	NM_004073		27	97	0	0	0	1	0	27	97				
MC2R	4158	broad.mit.edu	37	18	13885200	13885200	+	Silent	SNP	G	G	A	rs147706299	byFrequency	TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr18:13885200G>A	ENST00000327606.3	-	2	498	c.318C>T	c.(316-318)atC>atT	p.I106I		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	106					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuropeptide signaling pathway (GO:0007218)|placenta development (GO:0001890)|positive regulation of cAMP biosynthetic process (GO:0030819)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotropin receptor activity (GO:0004978)|melanocortin receptor activity (GO:0004977)			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	ACAGGGAGTCGATGATGTCAT	0.498													G|||	2	0.000399361	0.0	0.0	5008	,	,		21917	0.0		0.002	False		,,,				2504	0.0				Colon(141;1584 1782 35999 48227 48692)	ENST00000327606.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(316-318)atC>atT		melanocortin 2 receptor (adrenocorticotropic hormone)	Corticotropin(DB01285)|Cosyntropin(DB01284)	G		3,4403	6.2+/-15.9	0,3,2200	121.0	87.0	99.0		318	-9.4	0.3	18	dbSNP_134	99	9,8591	7.1+/-27.0	0,9,4291	no	coding-synonymous	MC2R	NM_000529.2		0,12,6491	AA,AG,GG		0.1047,0.0681,0.0923		106/298	13885200	12,12994	2203	4300	6503	SO:0001819	synonymous_variant	0				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding	g.chr18:13885200G>A		CCDS11869.1	18p11.2	2012-08-10			ENSG00000185231	ENSG00000185231		"""GPCR / Class A : Melanocortin receptors"""	6930	protein-coding gene	gene with protein product		607397				8390157	Standard	NM_001291911		Approved	ACTHR	uc002ksp.1	Q01718	OTTHUMG00000131721	ENST00000327606.3:c.318C>T	18.37:g.13885200G>A							p.I106I	NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN			2	498	-			106					A8K016|Q3MI45|Q504X6	Silent	SNP	ENST00000327606.3	37	c.318C>T	CCDS11869.1																																																																																				0.498	MC2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254639.2			19	49	0	0	0	1	0	19	49				
PITX3	5309	broad.mit.edu	37	10	103990274	103990274	+	Silent	SNP	T	T	C			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr10:103990274T>C	ENST00000370002.3	-	4	1059	c.906A>G	c.(904-906)gtA>gtG	p.V302V	PITX3_ENST00000539804.1_Silent_p.V302V	NM_005029.3	NP_005020.1	O75364	PITX3_HUMAN	paired-like homeodomain 3	302					dopaminergic neuron differentiation (GO:0071542)|lens development in camera-type eye (GO:0002088)|lens fiber cell differentiation (GO:0070306)|lens morphogenesis in camera-type eye (GO:0002089)|locomotory behavior (GO:0007626)|midbrain development (GO:0030901)|neuron development (GO:0048666)|organ morphogenesis (GO:0009887)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(1)|large_intestine(2)|lung(2)	5		Colorectal(252;0.00957)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GGGCCGCTCATACGGGCCTTT	0.667																																						ENST00000370002.3																			0				endometrium(1)|large_intestine(2)|lung(2)	5						c.(904-906)gtA>gtG		paired-like homeodomain 3							18.0	20.0	19.0					10																	103990274		2196	4298	6494	SO:0001819	synonymous_variant	5309				dopaminergic neuron differentiation|lens morphogenesis in camera-type eye|midbrain development|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:103990274T>C		CCDS7532.1	10q24.32	2013-11-14	2007-07-12		ENSG00000107859	ENSG00000107859		"""Homeoboxes / PRD class"""	9006	protein-coding gene	gene with protein product		602669	"""paired-like homeodomain transcription factor 3"", ""anterior segment mesenchymal dysgenesis"""	ASMD		9620774	Standard	NM_005029		Approved		uc001kuu.1	O75364	OTTHUMG00000018952	ENST00000370002.3:c.906A>G	10.37:g.103990274T>C						PITX3_ENST00000539804.1_Silent_p.V302V	p.V302V	NM_005029.3	NP_005020.1	O75364	PITX3_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	4	1059	-		Colorectal(252;0.00957)	302					Q5VZL2	Silent	SNP	ENST00000370002.3	37	c.906A>G	CCDS7532.1																																																																																				0.667	PITX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050031.1			3	21	0	0	0	1	0	3	21				
ACPT	93650	broad.mit.edu	37	19	51297838	51297838	+	Splice_Site	SNP	G	G	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr19:51297838G>A	ENST00000270593.1	+	9	986	c.986G>A	c.(985-987)gGg>gAg	p.G329E	CTD-2568A17.8_ENST00000594114.1_RNA|ACPT_ENST00000270594.3_Splice_Site_p.G236E	NM_033068.2	NP_149059.1	Q9BZG2	PPAT_HUMAN	acid phosphatase, testicular	329						integral component of membrane (GO:0016021)	acid phosphatase activity (GO:0003993)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3)	11		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		AAAGATGGAGGGTGAGAATGG	0.612																																						ENST00000270593.1																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3)	11						c.e9+1		acid phosphatase, testicular							39.0	39.0	39.0					19																	51297838		2203	4300	6503	SO:0001630	splice_region_variant	93650					integral to membrane	acid phosphatase activity	g.chr19:51297838G>A	AF321918	CCDS12802.1	19q13.33	2012-10-02			ENSG00000142513	ENSG00000142513			14376	protein-coding gene	gene with protein product		606362				11414767	Standard	NM_033068		Approved		uc002pta.1	Q9BZG2		ENST00000270593.1:c.986+1G>A	19.37:g.51297838G>A						ACPT_ENST00000270594.3_Splice_Site_p.G236_splice	p.G329_splice	NM_033068.2	NP_149059.1	Q9BZG2	PPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)	9	986	+		all_neural(266;0.057)	329					C0H3P7|Q9BZG3|Q9BZG4	Splice_Site	SNP	ENST00000270593.1	37	c.986_splice	CCDS12802.1	.	.	.	.	.	.	.	.	.	.	g	13.89	2.371379	0.42003	.	.	ENSG00000142513	ENST00000270593;ENST00000270594	T;T	0.78126	2.21;-1.15	3.9	1.75	0.24633	.	0.000000	0.64402	D	0.000001	T	0.68696	0.3029	L	0.45581	1.43	0.31455	N	0.67027	B	0.18968	0.032	B	0.26202	0.067	T	0.69639	-0.5091	10	0.87932	D	0	-23.9614	7.2699	0.26250	0.2391:0.0:0.7609:0.0	.	329	Q9BZG2	PPAT_HUMAN	E	329;236	ENSP00000270593:G329E;ENSP00000270594:G236E	ENSP00000270593:G329E	G	+	2	0	ACPT	55989650	1.000000	0.71417	0.991000	0.47740	0.137000	0.21094	2.697000	0.47060	0.983000	0.38602	0.561000	0.74099	GGG		0.612	ACPT-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464434.1	NM_033068	Missense_Mutation	4	35	0	0	0	1	0	4	35				
TSG101	7251	broad.mit.edu	37	11	18505466	18505466	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr11:18505466T>C	ENST00000251968.3	-	8	1209	c.794A>G	c.(793-795)aAg>aGg	p.K265R	TSG101_ENST00000357193.3_Missense_Mutation_p.K160R|TSG101_ENST00000536719.1_Missense_Mutation_p.K265R	NM_006292.3	NP_006283.1	Q99816	TS101_HUMAN	tumor susceptibility 101	265					cell cycle arrest (GO:0007050)|cell division (GO:0051301)|cellular protein modification process (GO:0006464)|endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|keratinocyte differentiation (GO:0030216)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell growth (GO:0001558)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|viral budding (GO:0046755)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|multivesicular body (GO:0005771)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transcription corepressor activity (GO:0003714)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						CTGGTGACCCTTTTTCAGGTC	0.438																																					GBM(99;1348 1396 8611 26475 50572)	ENST00000536719.1																			0				kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						c.(793-795)aAg>aGg		tumor susceptibility 101							262.0	254.0	257.0					11																	18505466		2199	4293	6492	SO:0001583	missense	7251				cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane	calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding	g.chr11:18505466T>C	U82130	CCDS7842.1	11p15	2013-08-22	2013-08-22		ENSG00000074319	ENSG00000074319			15971	protein-coding gene	gene with protein product		601387	"""tumor susceptibility gene 10"", ""tumor susceptibility gene 101"""	TSG10		9019400, 9241264	Standard	NM_006292		Approved	VPS23	uc001mor.3	Q99816	OTTHUMG00000167725	ENST00000251968.3:c.794A>G	11.37:g.18505466T>C	ENSP00000251968:p.Lys265Arg					TSG101_ENST00000251968.3_Missense_Mutation_p.K265R|TSG101_ENST00000357193.3_Missense_Mutation_p.K160R	p.K265R			Q99816	TS101_HUMAN			8	928	-			265					Q9BUM5	Missense_Mutation	SNP	ENST00000251968.3	37	c.794A>G	CCDS7842.1	.	.	.	.	.	.	.	.	.	.	T	16.11	3.030954	0.54790	.	.	ENSG00000074319	ENST00000536719;ENST00000251968;ENST00000357193	T;T;T	0.52983	0.64;0.64;0.64	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.38957	0.1060	L	0.41710	1.295	0.54753	D	0.999982	B	0.06786	0.001	B	0.06405	0.002	T	0.18903	-1.0322	10	0.19147	T	0.46	-23.3487	14.3285	0.66537	0.0:0.0:0.0:1.0	.	265	Q99816	TS101_HUMAN	R	265;265;160	ENSP00000438471:K265R;ENSP00000251968:K265R;ENSP00000349721:K160R	ENSP00000251968:K265R	K	-	2	0	TSG101	18462042	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.375000	0.79646	2.125000	0.65367	0.459000	0.35465	AAG		0.438	TSG101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395906.1	NM_006292		4	273	0	0	0	1	0	4	273				
FAT2	2196	broad.mit.edu	37	5	150911164	150911164	+	Silent	SNP	G	G	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr5:150911164G>A	ENST00000261800.5	-	13	9807	c.9795C>T	c.(9793-9795)cgC>cgT	p.R3265R		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3265	Cadherin 29. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAGCATCCAGGCGGAACCTGC	0.652																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(9793-9795)cgC>cgT		FAT atypical cadherin 2							36.0	31.0	33.0					5																	150911164		2203	4300	6503	SO:0001819	synonymous_variant	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150911164G>A	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.9795C>T	5.37:g.150911164G>A							p.R3265R	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		13	9807	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	3265			Cadherin 29.		O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	37	c.9795C>T	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	8.617	0.890559	0.17613	.	.	ENSG00000086570	ENST00000520200	.	.	.	5.21	-0.635	0.11512	.	.	.	.	.	T	0.43875	0.1267	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	T	0.29243	-1.0018	4	.	.	.	.	3.9819	0.09498	0.0763:0.3131:0.3485:0.2621	.	.	.	.	S	124	.	.	P	-	1	0	FAT2	150891357	0.472000	0.25870	0.999000	0.59377	0.764000	0.43329	-0.063000	0.11655	0.199000	0.20427	0.555000	0.69702	CCT		0.652	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		5	40	0	0	0	1	0	5	40				
C3orf14	57415	broad.mit.edu	37	3	62317034	62317034	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr3:62317034G>A	ENST00000494481.1	+	5	526	c.212G>A	c.(211-213)aGg>aAg	p.R71K	C3orf14_ENST00000232519.5_Missense_Mutation_p.R71K|C3orf14_ENST00000542214.1_Missense_Mutation_p.R71K|PTPRG-AS1_ENST00000490916.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA|C3orf14_ENST00000462069.1_Missense_Mutation_p.R71K			Q9HBI5	CC014_HUMAN	chromosome 3 open reading frame 14	71										central_nervous_system(1)|large_intestine(1)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(55;0.00023)|KIRC - Kidney renal clear cell carcinoma(15;0.00877)|Kidney(15;0.0101)		CTACAGACCAGGATTCACCCA	0.408																																						ENST00000494481.1																			0				central_nervous_system(1)|large_intestine(1)|lung(1)	3						c.(211-213)aGg>aAg		chromosome 3 open reading frame 14							122.0	119.0	120.0					3																	62317034		2203	4300	6503	SO:0001583	missense	57415							g.chr3:62317034G>A	AF236158	CCDS2896.1	3p14.2	2011-11-29			ENSG00000114405	ENSG00000114405			25024	protein-coding gene	gene with protein product						12477932	Standard	XM_005265338		Approved	HT021	uc003dlg.3	Q9HBI5	OTTHUMG00000158704	ENST00000494481.1:c.212G>A	3.37:g.62317034G>A	ENSP00000418086:p.Arg71Lys					PTPRG-AS1_ENST00000490916.1_RNA|C3orf14_ENST00000542214.1_Missense_Mutation_p.R71K|PTPRG-AS1_ENST00000495542.1_RNA|C3orf14_ENST00000462069.1_Missense_Mutation_p.R71K|C3orf14_ENST00000232519.5_Missense_Mutation_p.R71K	p.R71K			Q9HBI5	CC014_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00023)|KIRC - Kidney renal clear cell carcinoma(15;0.00877)|Kidney(15;0.0101)	5	526	+			71					B2R9U0	Missense_Mutation	SNP	ENST00000494481.1	37	c.212G>A	CCDS2896.1	.	.	.	.	.	.	.	.	.	.	G	12.87	2.068225	0.36470	.	.	ENSG00000114405	ENST00000462069;ENST00000232519;ENST00000494481;ENST00000542214	.	.	.	6.12	0.705	0.18127	.	0.320076	0.30969	N	0.008513	T	0.25269	0.0614	N	0.21142	0.635	0.09310	N	1	B	0.10296	0.003	B	0.11329	0.006	T	0.18335	-1.0340	9	0.23891	T	0.37	-14.8523	10.5518	0.45092	0.3728:0.0:0.6272:0.0	.	71	Q9HBI5	CC014_HUMAN	K	71	.	ENSP00000232519:R71K	R	+	2	0	C3orf14	62292074	0.028000	0.19301	0.356000	0.25785	0.885000	0.51271	0.448000	0.21726	0.176000	0.19873	0.644000	0.83932	AGG		0.408	C3orf14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351807.1	NM_020685		19	87	0	0	0	1	0	19	87				
LILRB5	10990	broad.mit.edu	37	19	54756362	54756362	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr19:54756362C>T	ENST00000316219.5	-	10	1629	c.1522G>A	c.(1522-1524)Ggc>Agc	p.G508S	LILRB5_ENST00000450632.1_Missense_Mutation_p.G500S|CTD-2337J16.1_ENST00000595133.1_lincRNA|LILRB5_ENST00000345866.6_Missense_Mutation_p.G409S|LILRB5_ENST00000449561.2_Missense_Mutation_p.G509S	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	508					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TTCTGCAGGCCCTGGTCCTTG	0.627																																						ENST00000450632.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1498-1500)Ggc>Agc		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5							120.0	112.0	114.0					19																	54756362		2203	4300	6503	SO:0001583	missense	0				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	g.chr19:54756362C>T	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.1522G>A	19.37:g.54756362C>T	ENSP00000320390:p.Gly508Ser					LILRB5_ENST00000345866.6_Missense_Mutation_p.G409S|LILRB5_ENST00000316219.5_Missense_Mutation_p.G508S|LILRB5_ENST00000449561.2_Missense_Mutation_p.G509S	p.G500S			O75023	LIRB5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	10	1575	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		508					Q8N760	Missense_Mutation	SNP	ENST00000316219.5	37	c.1498G>A	CCDS12885.1	.	.	.	.	.	.	.	.	.	.	C	11.74	1.727693	0.30593	.	.	ENSG00000105609	ENST00000316219;ENST00000450632;ENST00000449561;ENST00000345866	T;T;T;T	0.00475	7.24;7.16;7.23;7.2	2.08	0.986	0.19784	.	.	.	.	.	T	0.00440	0.0014	M	0.68317	2.08	0.09310	N	1	B;B;B;B	0.31274	0.256;0.317;0.012;0.011	B;B;B;B	0.28232	0.062;0.087;0.007;0.004	T	0.42258	-0.9462	9	0.62326	D	0.03	.	3.9515	0.09371	0.0:0.7554:0.0:0.2446	.	500;409;509;508	C9JMK7;O75023-2;O75023-3;O75023	.;.;.;LIRB5_HUMAN	S	508;500;509;409	ENSP00000320390:G508S;ENSP00000414225:G500S;ENSP00000406478:G509S;ENSP00000263430:G409S	ENSP00000320390:G508S	G	-	1	0	LILRB5	59448174	0.080000	0.21391	0.002000	0.10522	0.001000	0.01503	0.479000	0.22228	0.373000	0.24621	0.585000	0.79938	GGC		0.627	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			27	89	0	0	0	1	0	27	89				
AGBL2	79841	broad.mit.edu	37	11	47712125	47712125	+	Silent	SNP	C	C	T	rs370106534	byFrequency	TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr11:47712125C>T	ENST00000525123.1	-	10	1419	c.1134G>A	c.(1132-1134)acG>acA	p.T378T	AGBL2_ENST00000298861.4_Silent_p.T378T|AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000528244.1_Silent_p.T340T|AGBL2_ENST00000357610.3_Silent_p.T378T	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	378						cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.T378T(1)		NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						GAATGGTCCACGTGAGACAGT	0.463													C|||	2	0.000399361	0.0015	0.0	5008	,	,		22113	0.0		0.0	False		,,,				2504	0.0					ENST00000525123.1																			1	Substitution - coding silent(1)	p.T378T(1)	lung(1)	NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						c.(1132-1134)acG>acA		ATP/GTP binding protein-like 2		C		1,4401	2.1+/-5.4	0,1,2200	180.0	153.0	162.0		1134	-6.7	0.9	11		162	0,8596		0,0,4298	no	coding-synonymous	AGBL2	NM_024783.3		0,1,6498	TT,TC,CC		0.0,0.0227,0.0077		378/903	47712125	1,12997	2201	4298	6499	SO:0001819	synonymous_variant	79841				proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding	g.chr11:47712125C>T		CCDS7944.1	11p11.2	2014-06-23			ENSG00000165923	ENSG00000165923			26296	protein-coding gene	gene with protein product	"""cytoplasmic carboxypeptidase 2"""					12738998, 21303978	Standard	NM_024783		Approved	FLJ23598, CCP2	uc001ngg.3	Q5U5Z8	OTTHUMG00000165368	ENST00000525123.1:c.1134G>A	11.37:g.47712125C>T						AGBL2_ENST00000528244.1_Silent_p.T340T|AGBL2_ENST00000357610.3_Silent_p.T378T|AGBL2_ENST00000298861.4_Silent_p.T378T|AGBL2_ENST00000529712.1_5'UTR	p.T378T	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN			10	1419	-			378					A8MPX2|Q53FV5|Q8IV57|Q9H5C0	Silent	SNP	ENST00000525123.1	37	c.1134G>A	CCDS7944.1																																																																																				0.463	AGBL2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383726.2	NM_024783		17	105	0	0	0	1	0	17	105				
VWA9	81556	broad.mit.edu	37	15	65871953	65871953	+	Silent	SNP	C	C	G			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr15:65871953C>G	ENST00000395644.4	-	12	1685	c.1350G>C	c.(1348-1350)ctG>ctC	p.L450L	VWA9_ENST00000420799.2_Silent_p.L393L|VWA9_ENST00000431261.2_Silent_p.L371L|VWA9_ENST00000313182.2_Silent_p.L450L|VWA9_ENST00000569491.1_Silent_p.L400L|VWA9_ENST00000442903.3_Silent_p.L414L|VWA9_ENST00000567744.1_Silent_p.L486L			Q96SY0	VWA9_HUMAN	von Willebrand factor A domain containing 9	450																	TCAGCAGGTCCAGGAAACCAA	0.527																																						ENST00000395644.4																			0											c.(1348-1350)ctG>ctC		von Willebrand factor A domain containing 9							59.0	52.0	55.0					15																	65871953		2201	4299	6500	SO:0001819	synonymous_variant	81556							g.chr15:65871953C>G	AL136662	CCDS55969.1, CCDS45283.1	15q22.31	2012-09-27	2012-09-27	2012-09-27	ENSG00000138614	ENSG00000138614			25372	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 44"""	C15orf44		11230166	Standard	NM_001136043		Approved	DKFZP564O1664	uc010uja.2	Q96SY0	OTTHUMG00000133159	ENST00000395644.4:c.1350G>C	15.37:g.65871953C>G						VWA9_ENST00000313182.2_Silent_p.L450L|VWA9_ENST00000569491.1_Silent_p.L400L|VWA9_ENST00000431261.2_Silent_p.L371L|VWA9_ENST00000567744.1_Silent_p.L486L|VWA9_ENST00000420799.2_Silent_p.L393L|VWA9_ENST00000442903.3_Silent_p.L414L	p.L450L							12	1685	-								B4DDI6|B4DVD5|Q49AH8|Q96HX5|Q9H0S5	Silent	SNP	ENST00000395644.4	37	c.1350G>C																																																																																					0.527	VWA9-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420604.3	NM_030800		5	42	0	0	0	1	0	5	42				
JPH1	56704	broad.mit.edu	37	8	75233375	75233375	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr8:75233375C>A	ENST00000342232.4	-	1	188	c.148G>T	c.(148-150)Gga>Tga	p.G50*	GDAP1_ENST00000521096.1_3'UTR	NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	50	Gly-rich.				calcium ion transport into cytosol (GO:0060402)|muscle organ development (GO:0007517)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			GTGTAGCCTCCGACCACCTCG	0.701																																						ENST00000342232.4																			0				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24						c.(148-150)Gga>Tga		junctophilin 1							58.0	45.0	49.0					8																	75233375		2203	4299	6502	SO:0001587	stop_gained	56704				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr8:75233375C>A	AB042634	CCDS6217.1	8q21	2008-07-03			ENSG00000104369	ENSG00000104369			14201	protein-coding gene	gene with protein product		605266				10891348, 10949023	Standard	XM_005251273		Approved	JP-1	uc003yae.3	Q9HDC5	OTTHUMG00000164524	ENST00000342232.4:c.148G>T	8.37:g.75233375C>A	ENSP00000344488:p.Gly50*					GDAP1_ENST00000521096.1_3'UTR	p.G50*	NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)		1	188	-	Breast(64;0.00576)		50			Gly-rich.		B2RTZ0	Nonsense_Mutation	SNP	ENST00000342232.4	37	c.148G>T	CCDS6217.1	.	.	.	.	.	.	.	.	.	.	C	38	7.023247	0.98010	.	.	ENSG00000104369	ENST00000342232	.	.	.	3.83	3.83	0.44106	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.5307	0.75960	0.0:1.0:0.0:0.0	.	.	.	.	X	50	.	ENSP00000344488:G50X	G	-	1	0	JPH1	75395930	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.412000	0.80091	1.963000	0.57068	0.407000	0.27541	GGA		0.701	JPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379102.1			5	37	1	0	0.184627	1	0.190681	5	37				
PKP4	8502	broad.mit.edu	37	2	159533253	159533253	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr2:159533253G>A	ENST00000389759.3	+	20	3242	c.3130G>A	c.(3130-3132)Ggc>Agc	p.G1044S	PKP4_ENST00000389757.3_Intron|AC005042.4_ENST00000442666.1_RNA|AC005042.4_ENST00000342892.4_RNA	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	1044					cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						CCCTTCAGTCGGCAGCACCTC	0.488										HNSCC(62;0.18)																												ENST00000389759.3																			0				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						c.(3130-3132)Ggc>Agc		plakophilin 4							136.0	133.0	134.0					2																	159533253		2203	4300	6503	SO:0001583	missense	8502				cell adhesion	desmosome	protein binding	g.chr2:159533253G>A	X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"""Armadillo repeat containing"""	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.3130G>A	2.37:g.159533253G>A	ENSP00000374409:p.Gly1044Ser	HNSCC(62;0.18)				AC005042.4_ENST00000342892.4_RNA|PKP4_ENST00000389757.3_Intron	p.G1044S	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN			20	3242	+			1044					Q86W91	Missense_Mutation	SNP	ENST00000389759.3	37	c.3130G>A	CCDS33305.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.016767	0.35606	.	.	ENSG00000144283	ENST00000389759	T	0.72394	-0.65	6.17	6.17	0.99709	.	0.171219	0.52532	D	0.000077	T	0.54287	0.1849	L	0.27053	0.805	0.80722	D	1	P;P	0.34743	0.466;0.466	B;B	0.24269	0.039;0.052	T	0.57814	-0.7746	10	0.02654	T	1	-13.0355	20.8794	0.99867	0.0:0.0:1.0:0.0	.	999;1044	Q4W5T8;Q99569	.;PKP4_HUMAN	S	1044	ENSP00000374409:G1044S	ENSP00000374409:G1044S	G	+	1	0	PKP4	159241499	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	9.476000	0.97823	2.941000	0.99782	0.655000	0.94253	GGC		0.488	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333250.1			7	154	0	0	0	1	0	7	154				
HKDC1	80201	broad.mit.edu	37	10	71008401	71008401	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr10:71008401A>G	ENST00000354624.5	+	10	1620	c.1487A>G	c.(1486-1488)gAg>gGg	p.E496G	HKDC1_ENST00000488706.1_3'UTR|HKDC1_ENST00000395086.2_Missense_Mutation_p.E496G	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	496	Hexokinase type-1 2.				carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)	cytosol (GO:0005829)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|mannokinase activity (GO:0019158)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GCTGAGCTGGAGTATGGGCTG	0.657																																						ENST00000354624.5																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(1486-1488)gAg>gGg		hexokinase domain containing 1							43.0	43.0	43.0					10																	71008401		2203	4300	6503	SO:0001583	missense	80201				glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity	g.chr10:71008401A>G		CCDS7288.1	10q22.1	2006-10-24			ENSG00000156510	ENSG00000156510			23302	protein-coding gene	gene with protein product						12477932	Standard	NM_025130		Approved	FLJ37767, FLJ22761	uc001jpf.4	Q2TB90	OTTHUMG00000018371	ENST00000354624.5:c.1487A>G	10.37:g.71008401A>G	ENSP00000346643:p.Glu496Gly					HKDC1_ENST00000395086.2_Missense_Mutation_p.E496G|HKDC1_ENST00000488706.1_3'UTR	p.E496G	NM_025130.3	NP_079406.3	Q2TB90	HKDC1_HUMAN			10	1620	+			496					B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9	Missense_Mutation	SNP	ENST00000354624.5	37	c.1487A>G	CCDS7288.1	.	.	.	.	.	.	.	.	.	.	A	16.39	3.108720	0.56291	.	.	ENSG00000156510	ENST00000354624;ENST00000395087;ENST00000395086	D;D	0.98567	-5.0;-5.0	4.85	4.85	0.62838	Hexokinase, N-terminal (1);	0.050425	0.85682	D	0.000000	D	0.97561	0.9201	M	0.84219	2.685	0.58432	D	0.999991	B	0.09022	0.002	B	0.20184	0.028	D	0.96788	0.9580	10	0.56958	D	0.05	-23.7884	14.2445	0.65978	1.0:0.0:0.0:0.0	.	496	Q2TB90	HKDC1_HUMAN	G	496	ENSP00000346643:E496G;ENSP00000378521:E496G	ENSP00000346643:E496G	E	+	2	0	HKDC1	70678407	1.000000	0.71417	0.530000	0.27963	0.765000	0.43378	7.237000	0.78164	2.031000	0.59945	0.379000	0.24179	GAG		0.657	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048389.1	NM_025130		4	37	0	0	0	1	0	4	37				
CASZ1	54897	broad.mit.edu	37	1	10719882	10719882	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr1:10719882G>A	ENST00000377022.3	-	6	1534	c.1217C>T	c.(1216-1218)gCc>gTc	p.A406V	CASZ1_ENST00000344008.5_Missense_Mutation_p.A406V|CASZ1_ENST00000478728.2_5'Flank	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	406	Pro-rich.				multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GGCGCTGGGGGCACTGGGCAC	0.677																																						ENST00000377022.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54						c.(1216-1218)gCc>gTc		castor zinc finger 1							32.0	35.0	34.0					1																	10719882		2202	4298	6500	SO:0001583	missense	54897				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr1:10719882G>A	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"""Zinc fingers, C2H2-type"""	26002	protein-coding gene	gene with protein product	"""zinc finger protein 693"", ""survival related gene"""	609895	"""castor homolog 1, zinc finger (Drosophila)"""			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.1217C>T	1.37:g.10719882G>A	ENSP00000366221:p.Ala406Val					CASZ1_ENST00000344008.5_Missense_Mutation_p.A406V	p.A406V	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)	6	1534	-	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	406			Pro-rich.		Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Missense_Mutation	SNP	ENST00000377022.3	37	c.1217C>T	CCDS41246.1	.	.	.	.	.	.	.	.	.	.	g	0.938	-0.710367	0.03230	.	.	ENSG00000130940	ENST00000377022;ENST00000344008	.	.	.	4.1	3.17	0.36434	.	0.365392	0.27249	N	0.020227	T	0.21145	0.0509	N	0.08118	0	0.09310	N	0.999995	B;B;B;B	0.12013	0.005;0.001;0.001;0.001	B;B;B;B	0.09377	0.004;0.002;0.002;0.004	T	0.14337	-1.0476	9	0.45353	T	0.12	-0.5218	8.2439	0.31675	0.1114:0.0:0.8886:0.0	.	430;406;406;406	B7Z1S3;B3KRV8;Q86V15-2;Q86V15	.;.;.;CASZ1_HUMAN	V	406	.	ENSP00000339445:A406V	A	-	2	0	CASZ1	10642469	0.201000	0.23410	0.053000	0.19242	0.052000	0.14988	2.633000	0.46519	1.079000	0.41038	0.486000	0.48141	GCC		0.677	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766		3	47	0	0	0	1	0	3	47				
ZNF91	7644	broad.mit.edu	37	19	23544783	23544783	+	Missense_Mutation	SNP	C	C	T	rs410211		TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr19:23544783C>T	ENST00000300619.7	-	4	1203	c.998G>A	c.(997-999)cGt>cAt	p.R333H	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.R301H	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	333				R -> H (in Ref. 1; AAA59469). {ECO:0000305}.	transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R333H(1)					all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				GGTTGAAGAACGGCTAAAAGC	0.393																																						ENST00000300619.7																			1	Substitution - Missense(1)	p.R333H(1)	large_intestine(1)								c.(997-999)cGt>cAt		zinc finger protein 91							72.0	76.0	75.0					19																	23544783		2120	4254	6374	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23544783C>T	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.998G>A	19.37:g.23544783C>T	ENSP00000300619:p.Arg333His					ZNF91_ENST00000397082.2_Missense_Mutation_p.R301H|ZNF91_ENST00000599743.1_Intron	p.R333H	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN			4	1203	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	333	R -> H (in Ref. 1; AAA59469).				A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.998G>A	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	C	4.408	0.075438	0.08485	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.17854	2.25;2.25	1.97	-3.94	0.04130	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07279	0.0184	N	0.20845	0.615	0.09310	N	1	P;D	0.61080	0.566;0.989	B;B	0.41988	0.043;0.372	T	0.25257	-1.0137	9	0.14252	T	0.57	.	3.5074	0.07696	0.1773:0.4543:0.0:0.3684	rs410211	301;333	Q05481-2;Q05481	.;ZNF91_HUMAN	H	333;301	ENSP00000300619:R333H;ENSP00000380272:R301H	ENSP00000300619:R333H	R	-	2	0	ZNF91	23336623	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.698000	0.01908	-0.928000	0.03761	0.162000	0.16502	CGT		0.393	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		5	115	0	0	0	1	0	5	115				
AKAP9	10142	broad.mit.edu	37	7	91691589	91691589	+	Splice_Site	SNP	C	C	T			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr7:91691589C>T	ENST00000359028.2	+	25	6027	c.5802C>T	c.(5800-5802)ggC>ggT	p.G1934G	AKAP9_ENST00000358100.2_Splice_Site_p.G1934G|AKAP9_ENST00000356239.3_Splice_Site_p.G1922G|AKAP9_ENST00000491695.1_3'UTR			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1934	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GTATTATAGGCGTCATTGATG	0.299			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.e25-1		A kinase (PRKA) anchor protein 9							55.0	62.0	60.0					7																	91691589		2203	4300	6503	SO:0001630	splice_region_variant	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91691589C>T	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.5801-1C>T	7.37:g.91691589C>T						AKAP9_ENST00000491695.1_3'UTR|AKAP9_ENST00000358100.2_Splice_Site_p.G1934_splice|AKAP9_ENST00000356239.3_Splice_Site_p.G1922_splice	p.G1934_splice			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		25	6027	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		1934			Glu-rich.		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Splice_Site	SNP	ENST00000359028.2	37	c.5800_splice																																																																																					0.299	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751	Silent	10	40	0	0	0	1	0	10	40				
TRIM68	55128	broad.mit.edu	37	11	4626487	4626487	+	Missense_Mutation	SNP	C	C	T	rs376554144		TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr11:4626487C>T	ENST00000300747.5	-	2	537	c.248G>A	c.(247-249)cGt>cAt	p.R83H		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	83					protein autoubiquitination (GO:0051865)|regulation of androgen receptor signaling pathway (GO:0060765)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|histone acetyltransferase binding (GO:0035035)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R83H(1)		breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		CCTTAGCAGACGGACTTTTTC	0.532																																						ENST00000300747.5																			1	Substitution - Missense(1)	p.R83H(1)	lung(1)	breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15						c.(247-249)cGt>cAt		tripartite motif containing 68		C	HIS/ARG	0,4402		0,0,2201	165.0	147.0	153.0		248	2.8	0.4	11		153	1,8595	1.2+/-3.3	0,1,4297	no	missense	TRIM68	NM_018073.5	29	0,1,6498	TT,TC,CC		0.0116,0.0,0.0077	benign	83/486	4626487	1,12997	2201	4298	6499	SO:0001583	missense	55128				protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:4626487C>T	AF360739	CCDS31356.1	11p15.4	2013-01-09	2011-01-25	2004-11-17		ENSG00000167333		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	21161	protein-coding gene	gene with protein product		613184	"""ring finger protein 137"", ""tripartite motif-containing 68"""	RNF137		11597395	Standard	NM_018073		Approved	SS-56, FLJ10369	uc001lzf.2	Q6AZZ1		ENST00000300747.5:c.248G>A	11.37:g.4626487C>T	ENSP00000300747:p.Arg83His						p.R83H	NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)	2	537	-		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)	83					A6NI19|A8K551|B3KPM5|B4DVK4|Q8WZ70|Q96LE5|Q96PF7|Q9H9C2|Q9NW18	Missense_Mutation	SNP	ENST00000300747.5	37	c.248G>A	CCDS31356.1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.005997	0.35415	0.0	1.16E-4	ENSG00000167333	ENST00000300747;ENST00000533021	D;D	0.84730	-1.89;-1.89	4.7	2.82	0.32997	Zinc finger, RING/FYVE/PHD-type (1);	0.600314	0.15089	N	0.281169	D	0.85504	0.5712	M	0.86740	2.835	0.09310	N	1	B;B	0.21753	0.06;0.041	B;B	0.15870	0.006;0.014	T	0.78595	-0.2143	10	0.72032	D	0.01	.	9.4959	0.38989	0.0:0.8185:0.0:0.1815	.	83;83	E9PR29;Q6AZZ1	.;TRI68_HUMAN	H	83	ENSP00000300747:R83H;ENSP00000436112:R83H	ENSP00000300747:R83H	R	-	2	0	TRIM68	4583063	0.000000	0.05858	0.356000	0.25785	0.948000	0.59901	0.605000	0.24179	0.663000	0.31027	0.549000	0.68633	CGT		0.532	TRIM68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385948.1	NM_018073		31	151	0	0	0	1	0	31	151				
ATG4A	115201	broad.mit.edu	37	X	107396937	107396937	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chrX:107396937G>A	ENST00000372232.3	+	13	1351	c.1192G>A	c.(1192-1194)Gtg>Atg	p.V398M	ATG4A_ENST00000545696.1_Missense_Mutation_p.V259M|ATG4A_ENST00000489247.1_3'UTR|COL4A6_ENST00000418180.1_Intron|ATG4A_ENST00000345734.3_Missense_Mutation_p.V336M|ATG4A_ENST00000372254.3_Missense_Mutation_p.V374M	NM_052936.3	NP_443168.2	Q8WYN0	ATG4A_HUMAN	autophagy related 4A, cysteine peptidase	398					autophagy (GO:0006914)|protein transport (GO:0015031)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	cysteine-type peptidase activity (GO:0008234)			endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)	11						GATTCTGAGTGTGTAGAATCC	0.393																																						ENST00000372232.3																			0				endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)	11						c.(1192-1194)Gtg>Atg		autophagy related 4A, cysteine peptidase							148.0	140.0	143.0					X																	107396937		2203	4300	6503	SO:0001583	missense	115201				autophagy|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity	g.chrX:107396937G>A	AJ320508	CCDS14538.1, CCDS14539.1	Xq22.1-q22.3	2014-02-12	2012-06-06	2005-09-11	ENSG00000101844	ENSG00000101844			16489	protein-coding gene	gene with protein product		300663	"""AUT-like 2, cysteine endopeptidase (S. cerevisiae)"", ""APG4 autophagy 4 homolog A (S. cerevisiae)"", ""ATG4 autophagy related 4 homolog A (S. cerevisiae)"""	AUTL2, APG4A		12446702, 12473658	Standard	NM_052936		Approved		uc004enr.3	Q8WYN0	OTTHUMG00000022176	ENST00000372232.3:c.1192G>A	X.37:g.107396937G>A	ENSP00000361306:p.Val398Met					ATG4A_ENST00000345734.3_Missense_Mutation_p.V336M|ATG4A_ENST00000545696.1_Missense_Mutation_p.V259M|ATG4A_ENST00000372254.3_Missense_Mutation_p.V374M|COL4A6_ENST00000418180.1_Intron|ATG4A_ENST00000489247.1_3'UTR	p.V398M	NM_052936.3	NP_443168.2	Q8WYN0	ATG4A_HUMAN			13	1351	+			398					A6NCH2|B2RAZ7|D3DUY0|O95534|Q5JYY9|Q5JYZ0|Q86VE5|Q96KQ0|Q96KQ1	Missense_Mutation	SNP	ENST00000372232.3	37	c.1192G>A	CCDS14538.1	.	.	.	.	.	.	.	.	.	.	G	11.49	1.655520	0.29425	.	.	ENSG00000101844	ENST00000372232;ENST00000345734;ENST00000372254;ENST00000545696	T;T;T;T	0.51325	0.71;0.71;0.73;0.73	6.08	1.61	0.23674	.	0.275715	0.34652	N	0.003797	T	0.29652	0.0740	N	0.12182	0.205	0.29053	N	0.884376	B;B;B	0.25441	0.126;0.126;0.014	B;B;B	0.30646	0.118;0.118;0.014	T	0.22312	-1.0220	10	0.39692	T	0.17	-3.027	11.4259	0.50009	0.29:0.0:0.71:0.0	.	259;336;398	F5H3G3;Q8WYN0-2;Q8WYN0	.;.;ATG4A_HUMAN	M	398;336;374;259	ENSP00000361306:V398M;ENSP00000298131:V336M;ENSP00000361328:V374M;ENSP00000438936:V259M	ENSP00000298131:V336M	V	+	1	0	ATG4A	107283593	0.997000	0.39634	0.051000	0.19133	0.960000	0.62799	1.883000	0.39658	0.229000	0.21039	0.600000	0.82982	GTG		0.393	ATG4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057860.1	NM_052936		6	69	0	0	0	1	0	6	69				
LAMB1	3912	broad.mit.edu	37	7	107569953	107569953	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr7:107569953C>A	ENST00000222399.6	-	30	4879	c.4649G>T	c.(4648-4650)cGa>cTa	p.R1550L	LAMB1_ENST00000393561.1_Missense_Mutation_p.R1574L|LAMB1_ENST00000474380.1_5'UTR	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	1550	Domain I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						GCTTTCAACTCGTTCACGTAT	0.418																																						ENST00000393561.1																			0				NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						c.(4720-4722)cGa>cTa		laminin, beta 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						201.0	169.0	180.0					7																	107569953		2203	4300	6503	SO:0001583	missense	3912				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	g.chr7:107569953C>A	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.4649G>T	7.37:g.107569953C>A	ENSP00000222399:p.Arg1550Leu					LAMB1_ENST00000474380.1_5'UTR|LAMB1_ENST00000222399.6_Missense_Mutation_p.R1550L	p.R1574L			P07942	LAMB1_HUMAN			28	4905	-			1550			Domain I.		Q14D91	Missense_Mutation	SNP	ENST00000222399.6	37	c.4721G>T	CCDS5750.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.341741	0.81911	.	.	ENSG00000091136	ENST00000393561;ENST00000222399	T;T	0.76578	-1.03;-1.03	5.42	4.54	0.55810	Prefoldin (1);	.	.	.	.	T	0.71341	0.3328	L	0.42686	1.345	0.80722	D	1	P;P	0.40834	0.474;0.73	B;B	0.39339	0.297;0.256	T	0.71889	-0.4456	9	0.40728	T	0.16	.	14.0718	0.64865	0.0:0.9283:0.0:0.0717	.	1550;1574	P07942;G3XAI2	LAMB1_HUMAN;.	L	1574;1550	ENSP00000377191:R1574L;ENSP00000222399:R1550L	ENSP00000222399:R1550L	R	-	2	0	LAMB1	107357189	0.917000	0.31117	0.962000	0.40283	0.991000	0.79684	2.321000	0.43805	1.517000	0.48917	0.650000	0.86243	CGA		0.418	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		3	79	1	0	1	1	1	3	79				
P4HA1	5033	broad.mit.edu	37	10	74769597	74769597	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr10:74769597G>A	ENST00000307116.2	-	14	1618	c.1502C>T	c.(1501-1503)gCa>gTa	p.A501V	P4HA1_ENST00000394890.2_Missense_Mutation_p.A501V|P4HA1_ENST00000412021.2_Missense_Mutation_p.A501V|P4HA1_ENST00000440381.1_Missense_Mutation_p.A483V|P4HA1_ENST00000263556.3_Missense_Mutation_p.A501V|P4HA1_ENST00000373008.2_Missense_Mutation_p.A501V			P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	501	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				collagen fibril organization (GO:0030199)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)	endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|procollagen-proline 4-dioxygenase complex (GO:0016222)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TGGACAGGCTGCATGCCGTGT	0.373																																					Colon(147;367 2405 2662 52127)	ENST00000412021.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15						c.(1501-1503)gCa>gTa		prolyl 4-hydroxylase, alpha polypeptide I	Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)						83.0	81.0	82.0					10																	74769597		2203	4300	6503	SO:0001583	missense	5033					endoplasmic reticulum lumen|mitochondrion	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity	g.chr10:74769597G>A		CCDS7320.1, CCDS41537.1, CCDS44432.1	10q21.3-q23.1	2008-12-09	2008-12-09		ENSG00000122884	ENSG00000122884	1.14.11.2		8546	protein-coding gene	gene with protein product	"""collagen prolyl 4-hydroxylase alpha(I)"""	176710	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide I"""	P4HA		2556027	Standard	NM_001017962		Approved	C-P4Halpha(I)	uc001jtg.3	P13674	OTTHUMG00000018449	ENST00000307116.2:c.1502C>T	10.37:g.74769597G>A	ENSP00000307318:p.Ala501Val					P4HA1_ENST00000307116.2_Missense_Mutation_p.A501V|P4HA1_ENST00000440381.1_Missense_Mutation_p.A483V|P4HA1_ENST00000263556.3_Missense_Mutation_p.A501V|P4HA1_ENST00000373008.2_Missense_Mutation_p.A501V|P4HA1_ENST00000394890.2_Missense_Mutation_p.A501V	p.A501V	NM_001142595.1	NP_001136067.1	P13674	P4HA1_HUMAN			15	1835	-	Prostate(51;0.0198)		501			Fe2OG dioxygenase.		C9JL12|Q15082|Q15083|Q5VSQ5	Missense_Mutation	SNP	ENST00000307116.2	37	c.1502C>T		.	.	.	.	.	.	.	.	.	.	G	35	5.511029	0.96386	.	.	ENSG00000122884	ENST00000307116;ENST00000373008;ENST00000412021;ENST00000394890;ENST00000263556;ENST00000440381	T;T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1;-1.1;-1.1	5.29	5.29	0.74685	Oxoglutarate/iron-dependent oxygenase (2);Prolyl 4-hydroxylase, alpha subunit (1);	0.000000	0.85682	D	0.000000	D	0.92476	0.7611	H	0.96604	3.85	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.94869	0.8028	10	0.87932	D	0	-5.5709	18.5323	0.90997	0.0:0.0:1.0:0.0	.	483;501;501	C9JL12;Q5VSQ6;P13674	.;.;P4HA1_HUMAN	V	501;501;501;501;501;483	ENSP00000307318:A501V;ENSP00000362099:A501V;ENSP00000411688:A501V;ENSP00000378353:A501V;ENSP00000263556:A501V;ENSP00000414464:A483V	ENSP00000263556:A501V	A	-	2	0	P4HA1	74439603	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.348000	0.97062	2.490000	0.84030	0.655000	0.94253	GCA		0.373	P4HA1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000048601.1	NM_000917		3	55	0	0	0	1	0	3	55				
ACRC	93953	broad.mit.edu	37	X	70828895	70828895	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chrX:70828895T>A	ENST00000373695.1	+	9	2076	c.1539T>A	c.(1537-1539)aaT>aaA	p.N513K	ACRC_ENST00000373696.3_Missense_Mutation_p.N513K			Q96QF7	ACRC_HUMAN	acidic repeat containing	513	Arg/Lys/Pro-rich.					nucleus (GO:0005634)				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					CTGGAAAAAATTTAAAGCGAA	0.363																																						ENST00000373695.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54						c.(1537-1539)aaT>aaA		acidic repeat containing							58.0	52.0	54.0					X																	70828895		2203	4300	6503	SO:0001583	missense	93953					nucleus		g.chrX:70828895T>A	AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.1539T>A	X.37:g.70828895T>A	ENSP00000362799:p.Asn513Lys					ACRC_ENST00000373696.3_Missense_Mutation_p.N513K	p.N513K			Q96QF7	ACRC_HUMAN			9	2076	+	Renal(35;0.156)		513			Arg/Lys/Pro-rich.		B9EG62	Missense_Mutation	SNP	ENST00000373695.1	37	c.1539T>A	CCDS35326.1	.	.	.	.	.	.	.	.	.	.	t	9.406	1.079303	0.20227	.	.	ENSG00000147174	ENST00000373696;ENST00000373695	T;T	0.30182	1.54;1.54	4.83	-9.65	0.00537	.	.	.	.	.	T	0.17450	0.0419	L	0.35723	1.085	0.09310	N	1	B	0.22683	0.073	B	0.26094	0.066	T	0.13229	-1.0517	9	0.32370	T	0.25	.	4.9482	0.14000	0.3324:0.0771:0.4694:0.1211	.	513	Q96QF7	ACRC_HUMAN	K	513	ENSP00000362800:N513K;ENSP00000362799:N513K	ENSP00000362799:N513K	N	+	3	2	ACRC	70745620	0.039000	0.19947	0.000000	0.03702	0.000000	0.00434	-1.808000	0.01732	-3.330000	0.00186	-2.299000	0.00261	AAT		0.363	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081856.1			12	15	0	0	0	1	0	12	15				
PRAMEF11	440560	broad.mit.edu	37	1	12887612	12887612	+	Missense_Mutation	SNP	T	T	C	rs60558629	byFrequency	TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr1:12887612T>C	ENST00000535591.1	-	3	440	c.245A>G	c.(244-246)cAt>cGt	p.H82R		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	82					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.H82R(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GAAGCACCCATGGGCCATAGC	0.488													.|||	6	0.00119808	0.0015	0.0014	5008	,	,		19834	0.001		0.002	False		,,,				2504	0.0					ENST00000535591.1																			1	Substitution - Missense(1)	p.H82R(1)	endometrium(1)	NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						c.(244-246)cAt>cGt		PRAME family member 11																																				SO:0001583	missense	440560							g.chr1:12887612T>C	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.245A>G	1.37:g.12887612T>C	ENSP00000439551:p.His82Arg						p.H82R	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN			3	440	-			82						Missense_Mutation	SNP	ENST00000535591.1	37	c.245A>G	CCDS53268.1	.	.	.	.	.	.	.	.	.	.	.	0.046	-1.266700	0.01433	.	.	ENSG00000204513	ENST00000535591;ENST00000331684;ENST00000437584	T;T	0.14766	2.48;2.48	1.48	-2.96	0.05547	.	7.429810	0.00166	N	0.000002	T	0.07818	0.0196	N	0.17082	0.46	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.22034	-1.0228	10	0.24483	T	0.36	.	3.1667	0.06538	0.0:0.2637:0.2217:0.5146	rs60558629	82	O60813	PRA11_HUMAN	R	82;123;82	ENSP00000439551:H82R;ENSP00000391839:H82R	ENSP00000328783:H123R	H	-	2	0	PRAMEF11	12810199	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.061000	0.11693	-1.287000	0.02381	-0.610000	0.04054	CAT		0.488	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		6	253	0	0	0	1	0	6	253				
NEU1	4758	broad.mit.edu	37	6	31828260	31828260	+	Missense_Mutation	SNP	C	C	T	rs145177628		TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr6:31828260C>T	ENST00000375631.4	-	4	883	c.754G>A	c.(754-756)Ggt>Agt	p.G252S		NM_000434.3	NP_000425.1	Q99519	NEUR1_HUMAN	sialidase 1 (lysosomal sialidase)	252					glycosphingolipid metabolic process (GO:0006687)|lipid catabolic process (GO:0016042)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308)			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10					Oseltamivir(DB00198)	TTGGGCTGACCGTAGGGGATG	0.577																																						ENST00000375631.4																			0				kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						c.(754-756)Ggt>Agt		sialidase 1 (lysosomal sialidase)	Oseltamivir(DB00198)|Zanamivir(DB00558)	C	SER/GLY	0,4406		0,0,2203	144.0	120.0	128.0		754	5.3	1.0	6	dbSNP_134	128	2,8598	2.2+/-6.3	0,2,4298	no	missense	NEU1	NM_000434.3	56	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	252/416	31828260	2,13004	2203	4300	6503	SO:0001583	missense	4758					cytoplasmic membrane-bounded vesicle|lysosomal lumen|lysosomal membrane|plasma membrane	exo-alpha-sialidase activity|protein binding	g.chr6:31828260C>T	AF040958	CCDS4723.1	6p21	2012-10-02			ENSG00000204386	ENSG00000204386	3.2.1.18		7758	protein-coding gene	gene with protein product		608272		NEU		9054950	Standard	NM_000434		Approved		uc003nxq.4	Q99519	OTTHUMG00000031284	ENST00000375631.4:c.754G>A	6.37:g.31828260C>T	ENSP00000364782:p.Gly252Ser						p.G252S	NM_000434.3	NP_000425.1	Q99519	NEUR1_HUMAN			4	883	-			252						Missense_Mutation	SNP	ENST00000375631.4	37	c.754G>A	CCDS4723.1	.	.	.	.	.	.	.	.	.	.	C	10.57	1.386365	0.25031	0.0	2.33E-4	ENSG00000204386	ENST00000375631	D	0.89617	-2.54	5.32	5.32	0.75619	Neuraminidase (2);	0.109676	0.64402	D	0.000007	T	0.78298	0.4261	L	0.54323	1.7	0.36665	D	0.878195	P;P	0.51240	0.943;0.935	B;B	0.42422	0.387;0.278	T	0.75539	-0.3282	10	0.14656	T	0.56	-13.2786	9.8179	0.40865	0.0:0.9096:0.0:0.0904	.	252;252	E9PIF4;Q99519	.;NEUR1_HUMAN	S	252	ENSP00000364782:G252S	ENSP00000364782:G252S	G	-	1	0	NEU1	31936239	1.000000	0.71417	0.970000	0.41538	0.068000	0.16541	5.136000	0.64783	2.775000	0.95449	0.655000	0.94253	GGT		0.577	NEU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076616.2			19	101	0	0	0	1	0	19	101				
LOC220729	220729	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs376114863		TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478																																						ENST00000418868.1																			0																																																			0							g.chr3:197348674A>G																													3.37:g.197348674A>G								NR_003266.2						0	585	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.478	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			3	88	0	0	0	1	0	3	88				
PLPPR4	9890	broad.mit.edu	37	1	99767329	99767329	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr1:99767329T>C	ENST00000370185.3	+	6	1339	c.842T>C	c.(841-843)cTc>cCc	p.L281P	LPPR4_ENST00000457765.1_Intron|LPPR4_ENST00000370184.1_Missense_Mutation_p.L123P	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		281					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		CTGAAACCTCTCTTGGTCTTC	0.363																																						ENST00000370185.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72						c.(841-843)cTc>cCc									134.0	130.0	132.0					1																	99767329		2203	4300	6503	SO:0001583	missense	0						phosphatidate phosphatase activity	g.chr1:99767329T>C																												ENST00000370185.3:c.842T>C	1.37:g.99767329T>C	ENSP00000359204:p.Leu281Pro					LPPR4_ENST00000457765.1_Intron|LPPR4_ENST00000370184.1_Missense_Mutation_p.L123P	p.L281P	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)	6	1339	+		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)	281					E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	ENST00000370185.3	37	c.842T>C	CCDS757.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.287470	0.80803	.	.	ENSG00000117600	ENST00000370185;ENST00000263178;ENST00000370184	T;T	0.77489	-1.1;-1.1	4.92	4.92	0.64577	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.286229	0.34802	N	0.003668	T	0.81442	0.4823	L	0.55017	1.72	0.80722	D	1	D	0.64830	0.994	D	0.70227	0.968	D	0.84299	0.0504	10	0.72032	D	0.01	-22.0505	14.5573	0.68109	0.0:0.0:0.0:1.0	.	281	Q7Z2D5	LPPR4_HUMAN	P	281;281;123	ENSP00000359204:L281P;ENSP00000359203:L123P	ENSP00000263178:L281P	L	+	2	0	RP4-788L13.1	99539917	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.698000	0.84413	1.836000	0.53414	0.402000	0.26972	CTC		0.363	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			7	72	0	0	0	1	0	7	72				
TUBBP1	92755	broad.mit.edu	37	8	30210244	30210244	+	RNA	SNP	C	C	T			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr8:30210244C>T	ENST00000518096.1	+	0	856									tubulin, beta pseudogene 1																		CACCTGCCTCCGCTTCCCTGG	0.547																																						ENST00000518096.1																			0																																																			0							g.chr8:30210244C>T	J00317		8p12	2012-10-16	2005-11-15		ENSG00000127589	ENSG00000127589			12414	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 1"""			7070533	Standard	NG_001206		Approved				OTTHUMG00000163834		8.37:g.30210244C>T														0	856	+									RNA	SNP	ENST00000518096.1	37																																																																																						0.547	TUBBP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000375880.1	NG_001206		11	56	0	0	0	1	0	11	56				
ATP2B2	491	broad.mit.edu	37	3	10430060	10430060	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr3:10430060G>A	ENST00000352432.4	-	5	877	c.808C>T	c.(808-810)Cgg>Tgg	p.R270W	ATP2B2_ENST00000383800.4_Missense_Mutation_p.R270W|ATP2B2_ENST00000397077.1_Missense_Mutation_p.R270W|ATP2B2_ENST00000360273.2_Missense_Mutation_p.R270W|ATP2B2_ENST00000343816.4_Missense_Mutation_p.R270W			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	270					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						ACCAACATCCGTCCTGAGCCC	0.517																																					Ovarian(125;1619 1709 15675 19819 38835)	ENST00000397077.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						c.(808-810)Cgg>Tgg		ATPase, Ca++ transporting, plasma membrane 2							205.0	180.0	188.0					3																	10430060		2203	4300	6503	SO:0001583	missense	491				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	g.chr3:10430060G>A	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.808C>T	3.37:g.10430060G>A	ENSP00000324172:p.Arg270Trp					ATP2B2_ENST00000383800.4_Missense_Mutation_p.R270W|ATP2B2_ENST00000352432.4_Missense_Mutation_p.R270W|ATP2B2_ENST00000343816.4_Missense_Mutation_p.R270W|ATP2B2_ENST00000360273.2_Missense_Mutation_p.R270W	p.R270W			Q01814	AT2B2_HUMAN			8	1383	-			270					O00766|Q12994|Q16818	Missense_Mutation	SNP	ENST00000352432.4	37	c.808C>T	CCDS33701.1	.	.	.	.	.	.	.	.	.	.	G	20.0	3.929893	0.73327	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000452124;ENST00000342354	D;D;D;D;D;D	0.91011	-2.77;-2.77;-2.77;-2.77;-2.77;-2.77	5.65	-0.786	0.10946	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.114450	0.64402	D	0.000020	D	0.95478	0.8531	M	0.88704	2.975	0.46849	D	0.999221	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.81914	0.993;0.995;0.952;0.983	D	0.95672	0.8724	10	0.87932	D	0	-29.6001	17.7052	0.88306	0.0:0.0:0.2959:0.7041	.	270;236;282;270	Q01814-7;F5H7F7;Q4LE63;Q01814	.;.;.;AT2B2_HUMAN	W	270;270;270;270;270;236;157;270	ENSP00000324172:R270W;ENSP00000373311:R270W;ENSP00000380267:R270W;ENSP00000353414:R270W;ENSP00000344677:R270W;ENSP00000414854:R157W	ENSP00000342954:R270W	R	-	1	2	ATP2B2	10405060	0.336000	0.24757	0.997000	0.53966	0.990000	0.78478	0.511000	0.22739	-0.045000	0.13468	-0.152000	0.13540	CGG		0.517	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683		5	177	0	0	0	1	0	5	177				
LRP2	4036	broad.mit.edu	37	2	170053462	170053462	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr2:170053462T>A	ENST00000263816.3	-	46	8942	c.8657A>T	c.(8656-8658)gAa>gTa	p.E2886V		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2886	LDL-receptor class A 20. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	ACAATCTGTTTCTTGATCACA	0.458																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(8656-8658)gAa>gTa		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						123.0	103.0	110.0					2																	170053462		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170053462T>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.8657A>T	2.37:g.170053462T>A	ENSP00000263816:p.Glu2886Val						p.E2886V	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	46	8942	-			2886			LDL-receptor class A 20.		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.8657A>T	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	T	13.90	2.374385	0.42105	.	.	ENSG00000081479	ENST00000263816	D	0.95853	-3.83	6.17	2.43	0.29744	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.325278	0.37219	N	0.002186	D	0.91616	0.7351	L	0.42632	1.34	0.29282	N	0.869933	P	0.45044	0.849	B	0.43990	0.438	D	0.87262	0.2280	10	0.72032	D	0.01	.	3.9578	0.09398	0.0:0.2831:0.4017:0.3152	.	2886	P98164	LRP2_HUMAN	V	2886	ENSP00000263816:E2886V	ENSP00000263816:E2886V	E	-	2	0	LRP2	169761708	0.004000	0.15560	0.011000	0.14972	0.004000	0.04260	0.352000	0.20113	0.526000	0.28541	0.533000	0.62120	GAA		0.458	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		8	81	0	0	0	1	0	8	81				
ASAH1	427	broad.mit.edu	37	8	17916924	17916924	+	Missense_Mutation	SNP	G	G	T	rs147830297		TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr8:17916924G>T	ENST00000262097.6	-	12	1278	c.967C>A	c.(967-969)Cgt>Agt	p.R323S	ASAH1_ENST00000520781.1_Missense_Mutation_p.R298S|ASAH1_ENST00000381733.4_Missense_Mutation_p.R339S|ASAH1_ENST00000417108.2_Missense_Mutation_p.R233S|ASAH1_ENST00000314146.10_Missense_Mutation_p.R317S	NM_177924.3	NP_808592.2	Q13510	ASAH1_HUMAN	N-acylsphingosine amidohydrolase (acid ceramidase) 1	323					cell death (GO:0008219)|ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|lung development (GO:0030324)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	catalytic activity (GO:0003824)|ceramidase activity (GO:0017040)			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9				Colorectal(111;0.0646)|COAD - Colon adenocarcinoma(73;0.228)		TGTTTCCAACGGTCATAATTT	0.448																																						ENST00000262097.6																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9						c.(967-969)Cgt>Agt		N-acylsphingosine amidohydrolase (acid ceramidase) 1							201.0	178.0	186.0					8																	17916924		2203	4300	6503	SO:0001583	missense	427				ceramide metabolic process	lysosome	ceramidase activity	g.chr8:17916924G>T	U70063	CCDS6005.1, CCDS6006.1, CCDS47813.1	8p22	2007-03-27	2002-09-11	2002-09-13	ENSG00000104763	ENSG00000104763			735	protein-coding gene	gene with protein product		613468	"""N-acylsphingosine amidohydrolase (acid ceramidase)"""	ASAH		8955159, 10610716	Standard	NM_004315		Approved	AC, PHP32, FLJ21558	uc003wyn.2	Q13510	OTTHUMG00000096997	ENST00000262097.6:c.967C>A	8.37:g.17916924G>T	ENSP00000262097:p.Arg323Ser					ASAH1_ENST00000520781.1_Missense_Mutation_p.R298S|ASAH1_ENST00000381733.4_Missense_Mutation_p.R339S|ASAH1_ENST00000417108.2_Missense_Mutation_p.R233S|ASAH1_ENST00000314146.10_Missense_Mutation_p.R317S	p.R323S	NM_177924.3	NP_808592.2	Q13510	ASAH1_HUMAN		Colorectal(111;0.0646)|COAD - Colon adenocarcinoma(73;0.228)	12	1278	-			323					E9PDS0|Q6W898|Q96AS2	Missense_Mutation	SNP	ENST00000262097.6	37	c.967C>A	CCDS6006.1	.	.	.	.	.	.	.	.	.	.	G	18.72	3.685057	0.68157	.	.	ENSG00000104763	ENST00000262097;ENST00000381733;ENST00000520781;ENST00000417108;ENST00000314146	T;T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24;-1.24	5.53	4.65	0.58169	.	0.086593	0.85682	D	0.000000	T	0.80523	0.4639	M	0.83483	2.645	0.50813	D	0.99989	B;B;B;B	0.25719	0.132;0.108;0.132;0.05	B;B;B;B	0.29785	0.107;0.065;0.107;0.107	T	0.78401	-0.2218	10	0.35671	T	0.21	-0.9488	15.9679	0.79987	0.0:0.0:0.8644:0.1356	.	317;339;298;323	E9PDS0;Q13510-2;E7EMM4;Q13510	.;.;.;ASAH1_HUMAN	S	323;339;298;233;317	ENSP00000262097:R323S;ENSP00000371152:R339S;ENSP00000427751:R298S;ENSP00000394125:R233S;ENSP00000326970:R317S	ENSP00000262097:R323S	R	-	1	0	ASAH1	17961204	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	6.949000	0.75971	1.460000	0.47911	0.650000	0.86243	CGT		0.448	ASAH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214077.2	NM_004315		3	62	1	0	1	1	1	3	62				
SKA3	221150	broad.mit.edu	37	13	21729267	21729267	+	3'UTR	SNP	G	G	A	rs11147977	byFrequency	TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr13:21729267G>A	ENST00000314759.5	-	0	1385				SKA3_ENST00000400018.3_Missense_Mutation_p.T381I	NM_145061.5	NP_659498.4	Q8IX90	SKA3_HUMAN	spindle and kinetochore associated complex subunit 3						chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|regulation of microtubule polymerization or depolymerization (GO:0031110)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|spindle microtubule (GO:0005876)				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						CAGTTTCTGTGTTGGATAGAT	0.363																																						ENST00000400018.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(1141-1143)aCa>aTa		spindle and kinetochore associated complex subunit 3							141.0	146.0	144.0					13																	21729267		2202	4300	6502	SO:0001624	3_prime_UTR_variant	221150				cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytoplasm|spindle microtubule	protein binding	g.chr13:21729267G>A	AF361358	CCDS31946.1, CCDS53856.1	13q11	2013-01-17	2009-08-19	2009-08-19	ENSG00000165480	ENSG00000165480			20262	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 3"""	C13orf3		19387489, 19289083, 19646878, 19360002	Standard	NM_145061		Approved	MGC4832, RAMA1	uc001unt.3	Q8IX90	OTTHUMG00000016539	ENST00000314759.5:c.*22C>T	13.37:g.21729267G>A						SKA3_ENST00000314759.5_3'UTR	p.T381I	NM_001166017.1	NP_001159489.1	Q8IX90	SKA3_HUMAN			8	1211	-			0					A2A330|A2A331|B2RBY2|Q5VZV5|Q86WR2|Q8NBG1|Q96D22	Missense_Mutation	SNP	ENST00000314759.5	37	c.1142C>T	CCDS31946.1	234	0.10714285714285714	10	0.02032520325203252	48	0.13259668508287292	96	0.16783216783216784	80	0.10554089709762533	A	1.991	-0.431860	0.04669	.	.	ENSG00000165480	ENST00000400018	T	0.22945	1.93	4.07	-0.905	0.10527	.	.	.	.	.	T	0.00039	0.0001	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30357	-0.9981	8	0.41790	T	0.15	.	4.7384	0.13001	0.4657:0.1694:0.365:0.0	rs11147977;rs52815571;rs61114986;rs11147977	381	Q8IX90-3	.	I	381	ENSP00000382896:T381I	ENSP00000382896:T381I	T	-	2	0	SKA3	20627267	0.001000	0.12720	0.000000	0.03702	0.014000	0.08584	0.200000	0.17257	-0.416000	0.07473	-0.893000	0.02921	ACA		0.363	SKA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000272912.1	NM_145061		3	33	0	0	0	1	0	3	33				
PASD1	139135	broad.mit.edu	37	X	150832695	150832695	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chrX:150832695C>G	ENST00000370357.4	+	11	1191	c.946C>G	c.(946-948)Cag>Gag	p.Q316E		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	316						nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CTCAGTGGACCAGGAGGGCCC	0.587																																						ENST00000370357.4																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(946-948)Cag>Gag		PAS domain containing 1							106.0	90.0	96.0					X																	150832695		2203	4300	6503	SO:0001583	missense	139135					nucleus	signal transducer activity	g.chrX:150832695C>G	AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"""cancer/testis antigen 63"""					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.946C>G	X.37:g.150832695C>G	ENSP00000359382:p.Gln316Glu						p.Q316E	NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN			11	1191	+	Acute lymphoblastic leukemia(192;6.56e-05)		316					Q3MNE0|Q69HD7|Q8N7X9	Missense_Mutation	SNP	ENST00000370357.4	37	c.946C>G	CCDS35431.1	.	.	.	.	.	.	.	.	.	.	C	8.667	0.901908	0.17760	.	.	ENSG00000166049	ENST00000370357	T	0.68479	-0.33	3.04	-3.68	0.04463	.	.	.	.	.	T	0.41351	0.1155	N	0.24115	0.695	0.09310	N	1	B	0.16396	0.017	B	0.12837	0.008	T	0.17258	-1.0375	9	0.21540	T	0.41	.	1.5897	0.02651	0.1254:0.3453:0.1699:0.3595	.	316	Q8IV76	PASD1_HUMAN	E	316	ENSP00000359382:Q316E	ENSP00000359382:Q316E	Q	+	1	0	PASD1	150583351	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.406000	0.02490	-1.294000	0.02360	-0.312000	0.09012	CAG		0.587	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493		21	45	0	0	0	1	0	21	45				
MUC16	94025	broad.mit.edu	37	19	9082695	9082695	+	Silent	SNP	T	T	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr19:9082695T>A	ENST00000397910.4	-	1	9323	c.9120A>T	c.(9118-9120)acA>acT	p.T3040T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3041	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAAGGAAGCTTGTTTCTTTCT	0.483																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(9118-9120)acA>acT		mucin 16, cell surface associated							113.0	112.0	113.0					19																	9082695		1999	4182	6181	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9082695T>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.9120A>T	19.37:g.9082695T>A							p.T3040T	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	9323	-			3041			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.9120A>T	CCDS54212.1																																																																																				0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		8	72	0	0	0	1	0	8	72				
GOLGA6L7P	728310	broad.mit.edu	37	15	29092257	29092257	+	RNA	SNP	C	C	T	rs75388271		TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr15:29092257C>T	ENST00000569815.1	-	0	258					NR_047567.1				golgin A6 family-like 7, pseudogene																		TCAGGGTTAGCGCCATGATTT	0.547																																						ENST00000569815.1																			0																																																			0							g.chr15:29092257C>T	AK302238		15q13.1	2012-10-05	2011-04-15	2010-04-20	ENSG00000261649	ENSG00000261649			37442	pseudogene	pseudogene			"""golgi autoantigen, golgin subfamily a, 6-like 7 (pseudogene)"""	GOLGA6L7			Standard	NR_047567		Approved		uc010uar.2		OTTHUMG00000176345		15.37:g.29092257C>T								NR_047567.1						0	258	-									RNA	SNP	ENST00000569815.1	37																																																																																						0.547	GOLGA6L7P-002	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000431796.1	XR_078490		3	26	0	0	0	1	0	3	26				
GPR17	2840	broad.mit.edu	37	2	128409282	128409282	+	Missense_Mutation	SNP	G	G	A	rs78078469		TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr2:128409282G>A	ENST00000272644.3	+	3	1131	c.1057G>A	c.(1057-1059)Gaa>Aaa	p.E353K	GPR17_ENST00000486700.1_3'UTR|LIMS2_ENST00000409808.2_Intron|LIMS2_ENST00000409254.1_5'Flank|LIMS2_ENST00000410011.1_Intron|GPR17_ENST00000544369.1_Missense_Mutation_p.E353K|LIMS2_ENST00000324938.5_Intron|LIMS2_ENST00000545738.2_Intron|LIMS2_ENST00000409455.1_Intron|LIMS2_ENST00000355119.4_Intron|GPR17_ENST00000393018.3_Missense_Mutation_p.E353K	NM_001161416.1|NM_001161417.1|NM_005291.2	NP_001154888.1|NP_001154889.1|NP_005282.1	Q13304	GPR17_HUMAN	G protein-coupled receptor 17	353					chemokine-mediated signaling pathway (GO:0070098)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		CCCCAGCTTCGAAGGGAAAAC	0.607																																						ENST00000544369.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19						c.(1057-1059)Gaa>Aaa		G protein-coupled receptor 17		G	,,,LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU,	1,4405		0,1,2202	53.0	65.0	61.0		,,,1057,973,973,1057,	5.5	0.4	2	dbSNP_131	61	0,8598		0,0,4299	no	intron,intron,intron,missense,missense,missense,missense,intron	GPR17,LIMS2	NM_001136037.2,NM_001161403.1,NM_001161404.1,NM_001161415.1,NM_001161416.1,NM_001161417.1,NM_005291.2,NM_017980.4	,,,56,56,56,56,	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	,,,benign,benign,benign,benign,	,,,353/368,325/340,325/340,353/368,	128409282	1,13003	2203	4299	6502	SO:0001583	missense	0					integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled	g.chr2:128409282G>A		CCDS2148.1	2q21	2014-01-30			ENSG00000144230	ENSG00000144230		"""GPCR / Class A : Orphans"""	4471	protein-coding gene	gene with protein product		603071				8558062	Standard	NM_001161415		Approved		uc002tpc.3	Q13304	OTTHUMG00000131533	ENST00000272644.3:c.1057G>A	2.37:g.128409282G>A	ENSP00000272644:p.Glu353Lys					LIMS2_ENST00000409455.1_Intron|GPR17_ENST00000393018.3_Missense_Mutation_p.E353K|GPR17_ENST00000486700.1_3'UTR|LIMS2_ENST00000355119.4_Intron|LIMS2_ENST00000324938.5_Intron|LIMS2_ENST00000410011.1_Intron|GPR17_ENST00000272644.3_Missense_Mutation_p.E353K|LIMS2_ENST00000409808.2_Intron|LIMS2_ENST00000545738.2_Intron	p.E353K	NM_001161415.1	NP_001154887.1	Q13304	GPR17_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0677)	4	1668	+	Colorectal(110;0.1)	Ovarian(717;0.15)	353					A8K9L0|B2R9X0|Q8N5S7|Q9UDZ6|Q9UE21	Missense_Mutation	SNP	ENST00000272644.3	37	c.1057G>A	CCDS2148.1	.	.	.	.	.	.	.	.	.	.	.	11.31	1.599581	0.28534	2.27E-4	0.0	ENSG00000144230	ENST00000544369;ENST00000272644;ENST00000393018	T;T;T	0.36699	1.24;1.24;1.24	5.48	5.48	0.80851	.	0.291015	0.41294	D	0.000911	T	0.22205	0.0535	N	0.08118	0	0.49582	D	0.999809	B	0.20052	0.041	B	0.11329	0.006	T	0.08229	-1.0732	9	.	.	.	.	19.3394	0.94335	0.0:0.0:1.0:0.0	.	353	Q13304	GPR17_HUMAN	K	353	ENSP00000442982:E353K;ENSP00000272644:E353K;ENSP00000376741:E353K	.	E	+	1	0	GPR17	128125752	1.000000	0.71417	0.445000	0.26908	0.172000	0.22775	3.801000	0.55545	2.580000	0.87095	0.555000	0.69702	GAA		0.607	GPR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254390.1			22	109	0	0	0	1	0	22	109				
TRMT1	55621	broad.mit.edu	37	19	13216326	13216326	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr19:13216326C>T	ENST00000592062.1	-	16	2248	c.1678G>A	c.(1678-1680)Ggt>Agt	p.G560S	LYL1_ENST00000264824.4_5'Flank|TRMT1_ENST00000221504.8_Missense_Mutation_p.G531S|TRMT1_ENST00000357720.4_Missense_Mutation_p.G560S|TRMT1_ENST00000437766.1_Missense_Mutation_p.G560S			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	560							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		GGCCGGGGACCCCAGTTGGCC	0.657																																						ENST00000592062.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14						c.(1678-1680)Ggt>Agt		tRNA methyltransferase 1 homolog (S. cerevisiae)							60.0	72.0	68.0					19																	13216326		2203	4300	6503	SO:0001583	missense	55621						RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding	g.chr19:13216326C>T	AF196479	CCDS12293.1, CCDS45997.1	19p13.13	2012-06-12	2012-06-12						25980	protein-coding gene	gene with protein product		611669				10982862	Standard	NM_001142554		Approved	FLJ20244, TRM1	uc002mwl.3	Q9NXH9		ENST00000592062.1:c.1678G>A	19.37:g.13216326C>T	ENSP00000466967:p.Gly560Ser					TRMT1_ENST00000357720.4_Missense_Mutation_p.G560S|TRMT1_ENST00000221504.8_Missense_Mutation_p.G531S|TRMT1_ENST00000437766.1_Missense_Mutation_p.G560S	p.G560S			Q9NXH9	TRM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)	16	2248	-			560					O76103|Q548Y5|Q8WVA6	Missense_Mutation	SNP	ENST00000592062.1	37	c.1678G>A	CCDS12293.1	.	.	.	.	.	.	.	.	.	.	C	32	5.126108	0.94429	.	.	ENSG00000104907	ENST00000357720;ENST00000437766;ENST00000221504	T;T;T	0.07444	3.19;3.19;3.19	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.36635	0.0974	M	0.91561	3.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.46484	-0.9188	10	0.87932	D	0	-19.969	14.7899	0.69833	0.0:1.0:0.0:0.0	.	531;560	Q9NXH9-2;Q9NXH9	.;TRM1_HUMAN	S	560;560;531	ENSP00000350352:G560S;ENSP00000416149:G560S;ENSP00000221504:G531S	ENSP00000221504:G531S	G	-	1	0	TRMT1	13077326	1.000000	0.71417	1.000000	0.80357	0.742000	0.42306	6.881000	0.75584	2.368000	0.80403	0.561000	0.74099	GGT		0.657	TRMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452780.2	NM_017722		21	143	0	0	0	1	0	21	143				
TRIOBP	11078	broad.mit.edu	37	22	38119859	38119859	+	Silent	SNP	C	C	T	rs66505048	byFrequency	TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr22:38119859C>T	ENST00000406386.3	+	7	1551	c.1296C>T	c.(1294-1296)tgC>tgT	p.C432C		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	432					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)	p.C432C(6)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GAACATCCTGCGCCCAGCGGG	0.582																																						ENST00000406386.3																			6	Substitution - coding silent(6)	p.C432C(6)	kidney(3)|cervix(1)|lung(1)|endometrium(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1294-1296)tgC>tgT		TRIO and F-actin binding protein																																				SO:0001819	synonymous_variant	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38119859C>T	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.1296C>T	22.37:g.38119859C>T						RP1-37E16.12_ENST00000455236.1_RNA	p.C432C	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			7	1551	+	Melanoma(58;0.0574)		432					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Silent	SNP	ENST00000406386.3	37	c.1296C>T	CCDS43015.1																																																																																				0.582	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			4	101	0	0	0	1	0	4	101				
IFIT5	24138	broad.mit.edu	37	10	91177946	91177946	+	Silent	SNP	C	C	T			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr10:91177946C>T	ENST00000371795.4	+	2	1203	c.990C>T	c.(988-990)gcC>gcT	p.A330A	IFIT5_ENST00000416601.1_Silent_p.A282A	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN	interferon-induced protein with tetratricopeptide repeats 5	330					defense response to virus (GO:0051607)|innate immune response (GO:0045087)	actin cytoskeleton (GO:0015629)|apical part of cell (GO:0045177)|ruffle membrane (GO:0032587)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)|tRNA binding (GO:0000049)			endometrium(1)|large_intestine(4)|lung(4)	9						TCAAAGCAGCCATGGAACGAG	0.433																																						ENST00000371795.4																			0				endometrium(1)|large_intestine(4)|lung(4)	9						c.(988-990)gcC>gcT		interferon-induced protein with tetratricopeptide repeats 5							151.0	142.0	145.0					10																	91177946		2203	4300	6503	SO:0001819	synonymous_variant	24138						binding	g.chr10:91177946C>T	U34605	CCDS7403.1	10q23.31	2013-01-10			ENSG00000152778	ENSG00000152778		"""Tetratricopeptide (TTC) repeat domain containing"""	13328	protein-coding gene	gene with protein product	"""retinoic acid- and interferon-inducible protein (58kD)"""					9398535	Standard	NM_012420		Approved	RI58	uc010qnh.2	Q13325	OTTHUMG00000018713	ENST00000371795.4:c.990C>T	10.37:g.91177946C>T						IFIT5_ENST00000416601.1_Silent_p.A282A	p.A330A	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN			2	1203	+			330					B2R5X9|B4DDV1|Q5T7I9|Q6IAX3	Silent	SNP	ENST00000371795.4	37	c.990C>T	CCDS7403.1																																																																																				0.433	IFIT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049303.1	NM_012420		31	159	0	0	0	1	0	31	159				
OR5F1	338674	broad.mit.edu	37	11	55761664	55761664	+	Silent	SNP	G	G	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr11:55761664G>A	ENST00000278409.1	-	1	437	c.438C>T	c.(436-438)gcC>gcT	p.A146A		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	146					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					CAAAAGCCCCGGCTGCCATTT	0.502																																						ENST00000278409.1																			0				endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58						c.(436-438)gcC>gcT		olfactory receptor, family 5, subfamily F, member 1							41.0	43.0	43.0					11																	55761664		2201	4296	6497	SO:0001819	synonymous_variant	338674				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55761664G>A	AF065863	CCDS31515.1	11q11	2012-08-09			ENSG00000149133	ENSG00000149133		"""GPCR / Class A : Olfactory receptors"""	8343	protein-coding gene	gene with protein product		608492				9787077	Standard	NM_003697		Approved	OR11-10	uc010riv.2	O95221	OTTHUMG00000166825	ENST00000278409.1:c.438C>T	11.37:g.55761664G>A							p.A146A	NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN			1	437	-	Esophageal squamous(21;0.00448)		146					Q495D1|Q6IFB9	Silent	SNP	ENST00000278409.1	37	c.438C>T	CCDS31515.1																																																																																				0.502	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391532.1	NM_003697		4	34	0	0	0	1	0	4	34				
LINC01141	339505	broad.mit.edu	37	1	20693624	20693625	+	lincRNA	DEL	AG	AG	-	rs555783248	byFrequency	TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr1:20693624_20693625delAG	ENST00000426428.1	-	0	1279					NR_033887.1																						gggagggggaagagagagagag	0.629														5	0.000998403	0.0015	0.0014	5008	,	,		14242	0.0		0.0	False		,,,				2504	0.002					ENST00000426428.1																			0																																																			0							g.chr1:20693624_20693625delAG																													1.37:g.20693634_20693635delAG								NR_033887.1						0	1279	-									RNA	DEL	ENST00000426428.1	37																																																																																						0.629	RP4-749H3.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000007957.1			2	4						2	4	---	---	---	---
CCDC17	149483	broad.mit.edu	37	1	46086625	46086625	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr1:46086625G>A	ENST00000528266.1	-	11	1696	c.1549C>T	c.(1549-1551)Ctt>Ttt	p.L517F	CCDC17_ENST00000445048.2_Intron|CCDC17_ENST00000421127.2_Missense_Mutation_p.L508F|CCDC17_ENST00000343901.2_Missense_Mutation_p.L485F|CCDC17_ENST00000464739.1_5'Flank			Q96LX7	CCD17_HUMAN	coiled-coil domain containing 17	517										kidney(1)|large_intestine(1)|lung(1)|ovary(2)	5	Acute lymphoblastic leukemia(166;0.155)					TCCAGAGGAAGGGCCCGAAGT	0.577																																						ENST00000421127.2																			0				kidney(1)|large_intestine(1)|lung(1)|ovary(2)	5						c.(1522-1524)Ctt>Ttt		coiled-coil domain containing 17							41.0	39.0	40.0					1																	46086625		2203	4300	6503	SO:0001583	missense	149483							g.chr1:46086625G>A		CCDS44131.1, CCDS44131.2, CCDS53314.1	1p34.1	2014-02-12			ENSG00000159588	ENSG00000159588			26574	protein-coding gene	gene with protein product							Standard	NM_001190182		Approved	FLJ33084	uc010olt.2	Q96LX7	OTTHUMG00000007822	ENST00000528266.1:c.1549C>T	1.37:g.46086625G>A	ENSP00000432172:p.Leu517Phe					CCDC17_ENST00000343901.2_Missense_Mutation_p.L485F|CCDC17_ENST00000445048.2_Intron|CCDC17_ENST00000528266.1_Missense_Mutation_p.L517F	p.L508F	NM_001114938.2|NM_001190182.1	NP_001108410.2|NP_001177111.1	Q96LX7	CCD17_HUMAN			11	1665	-	Acute lymphoblastic leukemia(166;0.155)		517					A1A4Y7|B4DNX7|B4E1Q5|C9J8L2|Q0P683|Q5T629	Missense_Mutation	SNP	ENST00000528266.1	37	c.1522C>T	CCDS44131.2	.	.	.	.	.	.	.	.	.	.	G	13.15	2.152538	0.38021	.	.	ENSG00000159588	ENST00000421127;ENST00000343901;ENST00000528266	T;T;T	0.56275	0.47;0.47;0.47	5.81	3.85	0.44370	.	0.623048	0.15559	N	0.256047	T	0.46698	0.1406	L	0.56769	1.78	0.26366	N	0.976977	B;B;B	0.23249	0.082;0.082;0.082	B;B;B	0.25140	0.058;0.058;0.058	T	0.36768	-0.9734	10	0.28530	T	0.3	-1.5311	8.1926	0.31376	0.268:0.0:0.732:0.0	.	517;508;485	Q96LX7;Q96LX7-5;F2Z395	CCD17_HUMAN;.;.	F	508;485;517	ENSP00000389415:L508F;ENSP00000341451:L485F;ENSP00000432172:L517F	ENSP00000341451:L485F	L	-	1	0	CCDC17	45859212	0.987000	0.35691	0.920000	0.36463	0.547000	0.35210	2.542000	0.45744	0.696000	0.31696	0.655000	0.94253	CTT		0.577	CCDC17-008	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386833.1	NM_152500		5	22	0	0	0	1	0	5	22				
PLXND1	23129	broad.mit.edu	37	3	129324627	129324628	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr3:129324627_129324628insT	ENST00000324093.4	-	1	1033_1034	c.855_856insA	c.(853-858)cacccgfs	p.P286fs	PLXND1_ENST00000393239.1_Frame_Shift_Ins_p.P286fs	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	286	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						GGGTCGGACGGGTGCAGGAAGG	0.673																																					Ovarian(97;366 1484 3738 22084 39045)	ENST00000393239.1																		PLXND1/TMCC1(4)	0				NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						c.(853-858)cacgtcfs		plexin D1																																				SO:0001589	frameshift_variant	23129				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr3:129324627_129324628insT	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.855_856insA	3.37:g.129324627_129324628insT	ENSP00000317128:p.Pro286fs					PLXND1_ENST00000324093.4_Frame_Shift_Ins_p.HV285fs	p.HV285fs			Q9Y4D7	PLXD1_HUMAN			1	1033_1034	-			285			Sema.		A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Frame_Shift_Ins	INS	ENST00000324093.4	37	c.855_856insA	CCDS33854.1																																																																																				0.673	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103		6	1						6	1	---	---	---	---
N4BP2L1	90634	broad.mit.edu	37	13	32972737	32972738	+	IGR	INS	-	-	T	rs55881945		TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr13:32972737_32972738insT	ENST00000380130.2	-	0	3046				BRCA2_ENST00000380152.3_Frame_Shift_Ins_p.I3363fs|BRCA2_ENST00000544455.1_Frame_Shift_Ins_p.I3363fs	NM_052818.2	NP_438169.2	Q5TBK1	N42L1_HUMAN	NEDD4 binding protein 2-like 1											large_intestine(1)|lung(2)|ovary(1)|skin(1)	5		Lung SC(185;0.0262)		all cancers(112;6.3e-06)|Epithelial(112;3.51e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00607)|BRCA - Breast invasive adenocarcinoma(63;0.0171)		AAAACAATTTATATCTGTCAGT	0.381																																						ENST00000544455.1										"""D, Mis, N, F, S"""						"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""	"""breast, ovarian, pancreatic"""		0				NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183						c.(10087-10089)atcfs	Homologous recombination	breast cancer 2, early onset																																				SO:0001628	intergenic_variant	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia			cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32972737_32972738insT	U50527	CCDS9345.2, CCDS41877.1	13q13.1	2008-11-05			ENSG00000139597	ENSG00000139597			25037	protein-coding gene	gene with protein product	"""hypothetical gene CG018"""					8812419	Standard	NM_052818		Approved	CG018	uc001uuc.3	Q5TBK1	OTTHUMG00000016697		13.37:g.32972738_32972738dupT		TCGA Ovarian(8;0.087)				BRCA2_ENST00000380152.3_Frame_Shift_Ins_p.I3363fs	p.I3363fs	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	27	10314_10315	+		Lung SC(185;0.0262)	3363					A4QN21|Q5TBK0	Frame_Shift_Ins	INS	ENST00000380130.2	37	c.10087_10088insT	CCDS9345.2																																																																																				0.381	N4BP2L1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_052818		14	63						14	63	---	---	---	---
SYDE1	85360	broad.mit.edu	37	19	15220560	15220560	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr19:15220560delC	ENST00000342784.2	+	3	507	c.476delC	c.(475-477)tccfs	p.S159fs	SYDE1_ENST00000600440.1_Frame_Shift_Del_p.S92fs|SYDE1_ENST00000600252.1_5'UTR	NM_033025.4	NP_149014.3	Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1 (C. elegans)	159	Pro-rich.				activation of Rho GTPase activity (GO:0032862)|positive regulation of synaptic transmission (GO:0050806)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptonemal complex assembly (GO:0007130)	cerebellar mossy fiber (GO:0044300)|cytosol (GO:0005829)|synaptic membrane (GO:0097060)	Rho GTPase activator activity (GO:0005100)			endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						CGCACCAAGTCCCCGGGCCCC	0.706																																						ENST00000342784.2																			0				endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						c.(475-477)tcfs		synapse defective 1, Rho GTPase, homolog 1 (C. elegans)							3.0	3.0	3.0					19																	15220560		2002	3932	5934	SO:0001589	frameshift_variant	85360				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity	g.chr19:15220560delC	BC029926	CCDS12324.1, CCDS74299.1	19p13.12	2008-02-05				ENSG00000105137			25824	protein-coding gene	gene with protein product						12477932	Standard	XM_005260126		Approved	7h3, FLJ13511	uc002nah.1	Q6ZW31		ENST00000342784.2:c.476delC	19.37:g.15220560delC	ENSP00000341489:p.Ser159fs					SYDE1_ENST00000600252.1_5'UTR|SYDE1_ENST00000600440.1_Frame_Shift_Del_p.S92fs	p.S159fs	NM_033025.4	NP_149014.3	Q6ZW31	SYDE1_HUMAN			3	507	+			159			Pro-rich.		Q7L2I8|Q8N6J2|Q9H8K4	Frame_Shift_Del	DEL	ENST00000342784.2	37	c.476delC	CCDS12324.1																																																																																				0.706	SYDE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465666.1	NM_033025		2	4						2	4	---	---	---	---
TEAD2	8463	broad.mit.edu	37	19	49850472	49850473	+	Frame_Shift_Ins	INS	-	-	G	rs568692724		TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr19:49850472_49850473insG	ENST00000311227.2	-	9	973_974	c.883_884insC	c.(883-885)catfs	p.H295fs	TEAD2_ENST00000598397.1_5'Flank|TEAD2_ENST00000377214.4_Frame_Shift_Ins_p.H298fs|TEAD2_ENST00000601519.1_Frame_Shift_Ins_p.H298fs|TEAD2_ENST00000539846.1_Frame_Shift_Ins_p.H167fs|TEAD2_ENST00000598810.1_Frame_Shift_Ins_p.H299fs|TEAD2_ENST00000593945.1_Frame_Shift_Ins_p.H299fs	NM_001256659.1|NM_003598.1	NP_001243588.1|NP_003589.1	Q15562	TEAD2_HUMAN	TEA domain family member 2	295	Transcriptional activation. {ECO:0000255}.				gene expression (GO:0010467)|hippo signaling (GO:0035329)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H295fs*12(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		GAAGAAGGCATGGGGGGGGCCA	0.564																																						ENST00000377214.4																			1	Deletion - Frameshift(1)	p.H295fs*12(1)	ovary(1)	central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29						c.(892-894)tgcfs		TEA domain family member 2																																				SO:0001589	frameshift_variant	8463				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:49850472_49850473insG	X94440	CCDS12761.1, CCDS58670.1, CCDS58671.1, CCDS59406.1	19q13.3	2008-07-22							11715	protein-coding gene	gene with protein product		601729				9889009, 8702974	Standard	NM_003598		Approved	TEF-4, ETF, TEF4	uc031rls.1	Q15562		ENST00000311227.2:c.884dupC	19.37:g.49850480_49850480dupG	ENSP00000310701:p.His295fs					TEAD2_ENST00000593945.1_Frame_Shift_Ins_p.C299fs|TEAD2_ENST00000601519.1_Frame_Shift_Ins_p.C298fs|TEAD2_ENST00000539846.1_Frame_Shift_Ins_p.C167fs|TEAD2_ENST00000311227.2_Frame_Shift_Ins_p.C295fs|TEAD2_ENST00000598810.1_Frame_Shift_Ins_p.C299fs	p.C298fs			Q15562	TEAD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)	8	1254_1255	-		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)	295			Transcriptional activation (Potential).		B4DTJ6|M0R1T9|Q8NA25|Q96IG3	Frame_Shift_Ins	INS	ENST00000311227.2	37	c.892_893insC	CCDS12761.1																																																																																				0.564	TEAD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465465.1	NM_003598		10	313						10	313	---	---	---	---
P2RX6	9127	broad.mit.edu	37	22	21380547	21380547	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr22:21380547delT	ENST00000413302.2	+	11	1205	c.1057delT	c.(1057-1059)tttfs	p.F354fs	P2RX6_ENST00000336296.2_Frame_Shift_Del_p.F344fs|P2RX6_ENST00000443995.3_Frame_Shift_Del_p.F301fs|P2RX6_ENST00000401443.1_Frame_Shift_Del_p.F328fs|P2RX6_ENST00000402329.3_3'UTR			O15547	P2RX6_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 6	354					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|channel activity (GO:0015267)|extracellular ATP-gated cation channel activity (GO:0004931)|identical protein binding (GO:0042802)|purinergic nucleotide receptor activity (GO:0001614)|transmembrane signaling receptor activity (GO:0004888)										CCAGGTCACCTTTTTCTGTGA	0.587																																						ENST00000413302.2																			0											c.(1057-1059)ttfs		purinergic receptor P2X, ligand-gated ion channel, 6							44.0	40.0	41.0					22																	21380547		2202	4296	6498	SO:0001589	frameshift_variant	9127				muscle contraction|protein homooligomerization	cell junction|cytoplasm|integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity	g.chr22:21380547delT		CCDS13788.2, CCDS54504.1	22q11.21	2012-01-17	2008-03-28	2008-03-28	ENSG00000099957	ENSG00000099957		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8538	protein-coding gene	gene with protein product		608077	"""purinergic receptor P2X-like 1, orphan receptor"""	P2RXL1		9242461, 10591208, 8786426	Standard	NM_005446		Approved	P2XM, MGC129625, P2X6	uc010gsu.1	O15547	OTTHUMG00000150689	ENST00000413302.2:c.1057delT	22.37:g.21380547delT	ENSP00000416193:p.Phe354fs					P2RX6_ENST00000443995.3_Frame_Shift_Del_p.F301fs|P2RX6_ENST00000336296.2_Frame_Shift_Del_p.F344fs|P2RX6_ENST00000401443.1_Frame_Shift_Del_p.F328fs|P2RX6_ENST00000402329.3_3'UTR	p.F354fs			O15547	P2RX6_HUMAN			11	1205	+			354					F6V3D7|Q32MB6|Q58F04|Q6IC33|Q9UL50	Frame_Shift_Del	DEL	ENST00000413302.2	37	c.1057delT	CCDS13788.2																																																																																				0.587	P2RX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319625.2	NM_005446		2	4						2	4	---	---	---	---
LINC01141	339505	broad.mit.edu	37	1	20693624	20693625	+	lincRNA	DEL	AG	AG	-	rs555783248	byFrequency	TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr1:20693624_20693625delAG	ENST00000426428.1	-	0	1279					NR_033887.1																						gggagggggaagagagagagag	0.629														5	0.000998403	0.0015	0.0014	5008	,	,		14242	0.0		0.0	False		,,,				2504	0.002					ENST00000426428.1																			0																																																			0							g.chr1:20693624_20693625delAG																													1.37:g.20693634_20693635delAG								NR_033887.1						0	1279	-									RNA	DEL	ENST00000426428.1	37																																																																																						0.629	RP4-749H3.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000007957.1			2	4						2	4	---	---	---	---
MNX1	3110	broad.mit.edu	37	7	156802527	156802529	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr7:156802527_156802529delGCC	ENST00000252971.6	-	1	816_818	c.516_518delGGC	c.(514-519)gcggct>gct	p.172_173AA>A	MNX1_ENST00000543409.1_5'Flank|MNX1_ENST00000469500.1_5'Flank|MNX1-AS1_ENST00000480284.1_RNA|MNX1-AS2_ENST00000429228.1_RNA	NM_005515.3	NP_005506.3	P50219	MNX1_HUMAN	motor neuron and pancreas homeobox 1	172	Poly-Ala.				anatomical structure morphogenesis (GO:0009653)|diaphragm development (GO:0060539)|dorsal/ventral neural tube patterning (GO:0021904)|endocrine pancreas development (GO:0031018)|humoral immune response (GO:0006959)|motor neuron axon guidance (GO:0008045)|nerve development (GO:0021675)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spinal cord motor neuron cell fate specification (GO:0021520)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGCCAGCGCAGCCGCCGCCGCCG	0.803																																						ENST00000252971.6																			0				endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7						c.(514-519)gct>gc		motor neuron and pancreas homeobox 1				5,233		1,3,115						-3.2	1.0			2	20,1110		4,12,549	no	coding	MNX1	NM_005515.3		5,15,664	A1A1,A1R,RR		1.7699,2.1008,1.8275				25,1343				SO:0001651	inframe_deletion	3110				humoral immune response|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:156802527_156802529delGCC	AF107457	CCDS34788.1, CCDS55187.1	7q36	2012-03-09	2007-08-09	2007-08-09	ENSG00000130675	ENSG00000130675		"""Homeoboxes / ANTP class : HOXL subclass"""	4979	protein-coding gene	gene with protein product		142994	"""homeo box HB9"", ""homeobox HB9"""	HLXB9		9843207	Standard	NM_001165255		Approved	HB9, HOXHB9, SCRA1	uc003wmz.4	P50219	OTTHUMG00000157181	ENST00000252971.6:c.516_518delGGC	7.37:g.156802536_156802538delGCC	ENSP00000252971:p.Ala174del						p.AA172del	NM_005515.3	NP_005506.3	P50219	MNX1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	1	816_818	-	Ovarian(565;0.218)	all_hematologic(28;0.0592)	172			Poly-Ala.		F5H401|Q9Y648	In_Frame_Del	DEL	ENST00000252971.6	37	c.516_518delGGC	CCDS34788.1																																																																																				0.803	MNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347796.3			3	4						3	4	---	---	---	---
N4BP2L1	90634	broad.mit.edu	37	13	32972737	32972738	+	IGR	INS	-	-	T	rs55881945		TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr13:32972737_32972738insT	ENST00000380130.2	-	0	3046				BRCA2_ENST00000380152.3_Frame_Shift_Ins_p.I3363fs|BRCA2_ENST00000544455.1_Frame_Shift_Ins_p.I3363fs	NM_052818.2	NP_438169.2	Q5TBK1	N42L1_HUMAN	NEDD4 binding protein 2-like 1											large_intestine(1)|lung(2)|ovary(1)|skin(1)	5		Lung SC(185;0.0262)		all cancers(112;6.3e-06)|Epithelial(112;3.51e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00607)|BRCA - Breast invasive adenocarcinoma(63;0.0171)		AAAACAATTTATATCTGTCAGT	0.381																																						ENST00000544455.1										"""D, Mis, N, F, S"""						"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""	"""breast, ovarian, pancreatic"""		0				NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183						c.(10087-10089)atcfs	Homologous recombination	breast cancer 2, early onset																																				SO:0001628	intergenic_variant	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia			cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32972737_32972738insT	U50527	CCDS9345.2, CCDS41877.1	13q13.1	2008-11-05			ENSG00000139597	ENSG00000139597			25037	protein-coding gene	gene with protein product	"""hypothetical gene CG018"""					8812419	Standard	NM_052818		Approved	CG018	uc001uuc.3	Q5TBK1	OTTHUMG00000016697		13.37:g.32972738_32972738dupT		TCGA Ovarian(8;0.087)				BRCA2_ENST00000380152.3_Frame_Shift_Ins_p.I3363fs	p.I3363fs	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	27	10314_10315	+		Lung SC(185;0.0262)	3363					A4QN21|Q5TBK0	Frame_Shift_Ins	INS	ENST00000380130.2	37	c.10087_10088insT	CCDS9345.2																																																																																				0.381	N4BP2L1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_052818		14	63						14	63	---	---	---	---
RP11-189E14.5	0	broad.mit.edu	37	16	49487388	49487390	+	lincRNA	DEL	TCC	TCC	-			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr16:49487388_49487390delTCC	ENST00000576671.1	-	0	74				RP11-189E14.3_ENST00000573819.1_lincRNA																							ACACAACTTTtcctcctcctcct	0.507																																						ENST00000576671.1																			0																																																			0							g.chr16:49487388_49487390delTCC																													16.37:g.49487397_49487399delTCC														0	74	-									RNA	DEL	ENST00000576671.1	37																																																																																						0.507	RP11-189E14.5-001	KNOWN	mRNA_end_NF|basic	lincRNA	lincRNA	OTTHUMT00000423255.1			2	4						2	4	---	---	---	---
SYDE1	85360	broad.mit.edu	37	19	15220560	15220560	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr19:15220560delC	ENST00000342784.2	+	3	507	c.476delC	c.(475-477)tccfs	p.S159fs	SYDE1_ENST00000600440.1_Frame_Shift_Del_p.S92fs|SYDE1_ENST00000600252.1_5'UTR	NM_033025.4	NP_149014.3	Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1 (C. elegans)	159	Pro-rich.				activation of Rho GTPase activity (GO:0032862)|positive regulation of synaptic transmission (GO:0050806)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptonemal complex assembly (GO:0007130)	cerebellar mossy fiber (GO:0044300)|cytosol (GO:0005829)|synaptic membrane (GO:0097060)	Rho GTPase activator activity (GO:0005100)			endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						CGCACCAAGTCCCCGGGCCCC	0.706																																						ENST00000342784.2																			0				endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						c.(475-477)tcfs		synapse defective 1, Rho GTPase, homolog 1 (C. elegans)							3.0	3.0	3.0					19																	15220560		2002	3932	5934	SO:0001589	frameshift_variant	85360				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity	g.chr19:15220560delC	BC029926	CCDS12324.1, CCDS74299.1	19p13.12	2008-02-05				ENSG00000105137			25824	protein-coding gene	gene with protein product						12477932	Standard	XM_005260126		Approved	7h3, FLJ13511	uc002nah.1	Q6ZW31		ENST00000342784.2:c.476delC	19.37:g.15220560delC	ENSP00000341489:p.Ser159fs					SYDE1_ENST00000600252.1_5'UTR|SYDE1_ENST00000600440.1_Frame_Shift_Del_p.S92fs	p.S159fs	NM_033025.4	NP_149014.3	Q6ZW31	SYDE1_HUMAN			3	507	+			159			Pro-rich.		Q7L2I8|Q8N6J2|Q9H8K4	Frame_Shift_Del	DEL	ENST00000342784.2	37	c.476delC	CCDS12324.1																																																																																				0.706	SYDE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465666.1	NM_033025		2	4						2	4	---	---	---	---
P2RX6	9127	broad.mit.edu	37	22	21380547	21380547	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr22:21380547delT	ENST00000413302.2	+	11	1205	c.1057delT	c.(1057-1059)tttfs	p.F354fs	P2RX6_ENST00000336296.2_Frame_Shift_Del_p.F344fs|P2RX6_ENST00000443995.3_Frame_Shift_Del_p.F301fs|P2RX6_ENST00000401443.1_Frame_Shift_Del_p.F328fs|P2RX6_ENST00000402329.3_3'UTR			O15547	P2RX6_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 6	354					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|channel activity (GO:0015267)|extracellular ATP-gated cation channel activity (GO:0004931)|identical protein binding (GO:0042802)|purinergic nucleotide receptor activity (GO:0001614)|transmembrane signaling receptor activity (GO:0004888)										CCAGGTCACCTTTTTCTGTGA	0.587																																						ENST00000413302.2																			0											c.(1057-1059)ttfs		purinergic receptor P2X, ligand-gated ion channel, 6							44.0	40.0	41.0					22																	21380547		2202	4296	6498	SO:0001589	frameshift_variant	9127				muscle contraction|protein homooligomerization	cell junction|cytoplasm|integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity	g.chr22:21380547delT		CCDS13788.2, CCDS54504.1	22q11.21	2012-01-17	2008-03-28	2008-03-28	ENSG00000099957	ENSG00000099957		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8538	protein-coding gene	gene with protein product		608077	"""purinergic receptor P2X-like 1, orphan receptor"""	P2RXL1		9242461, 10591208, 8786426	Standard	NM_005446		Approved	P2XM, MGC129625, P2X6	uc010gsu.1	O15547	OTTHUMG00000150689	ENST00000413302.2:c.1057delT	22.37:g.21380547delT	ENSP00000416193:p.Phe354fs					P2RX6_ENST00000402329.3_3'UTR|P2RX6_ENST00000401443.1_Frame_Shift_Del_p.F328fs|P2RX6_ENST00000443995.3_Frame_Shift_Del_p.F301fs|P2RX6_ENST00000336296.2_Frame_Shift_Del_p.F344fs	p.F354fs			O15547	P2RX6_HUMAN			11	1205	+			354					F6V3D7|Q32MB6|Q58F04|Q6IC33|Q9UL50	Frame_Shift_Del	DEL	ENST00000413302.2	37	c.1057delT	CCDS13788.2																																																																																				0.587	P2RX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319625.2	NM_005446		2	4						2	4	---	---	---	---
