#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
PIP4K2C	79837	broad.mit.edu	37	12	57995053	57995053	+	Silent	SNP	C	C	T			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr12:57995053C>T	ENST00000354947.5	+	9	1123	c.1107C>T	c.(1105-1107)ttC>ttT	p.F369F	PIP4K2C_ENST00000550465.1_Silent_p.F351F|PIP4K2C_ENST00000422156.3_Silent_p.F321F|PIP4K2C_ENST00000540759.2_Silent_p.F369F			Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, gamma	369	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)|identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					AGGTCTACTTCATGGGCCTCA	0.468																																						ENST00000354947.5																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(1105-1107)ttC>ttT		phosphatidylinositol-5-phosphate 4-kinase, type II, gamma							82.0	84.0	83.0					12																	57995053		2203	4300	6503	SO:0001819	synonymous_variant	79837					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding	g.chr12:57995053C>T	AK125526	CCDS8946.1, CCDS53808.1, CCDS55839.1	12q13.3	2014-09-04	2007-08-14	2007-08-14	ENSG00000166908	ENSG00000166908			23786	protein-coding gene	gene with protein product			"""phosphatidylinositol-4-phosphate 5-kinase, type II, gamma"""	PIP5K2C		9367159	Standard	NM_024779		Approved	FLJ22055	uc001sot.3	Q8TBX8	OTTHUMG00000170144	ENST00000354947.5:c.1107C>T	12.37:g.57995053C>T						PIP4K2C_ENST00000422156.3_Silent_p.F321F|PIP4K2C_ENST00000550465.1_Silent_p.F351F|PIP4K2C_ENST00000540759.2_Silent_p.F369F	p.F369F			Q8TBX8	PI42C_HUMAN			9	1123	+	Melanoma(17;0.122)		369			PIPK.		B2RDL3|B4DM11|B4DY44|Q9H6N2	Silent	SNP	ENST00000354947.5	37	c.1107C>T	CCDS8946.1																																																																																				0.468	PIP4K2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407644.1	NM_024779		13	188	0	0	0	1	0	13	188				
PCDHA10	56139	broad.mit.edu	37	5	140236489	140236489	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr5:140236489C>G	ENST00000307360.5	+	1	856	c.856C>G	c.(856-858)Ccc>Gcc	p.P286A	PCDHA10_ENST00000506939.2_Missense_Mutation_p.P286A|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	286	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTGGTCCCACCCACGATAAG	0.358																																						ENST00000307360.5																			0				NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79						c.(856-858)Ccc>Gcc									72.0	71.0	71.0					5																	140236489		2196	4269	6465	SO:0001583	missense	56139							g.chr5:140236489C>G	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.856C>G	5.37:g.140236489C>G	ENSP00000304234:p.Pro286Ala					PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.P286A|PCDHA1_ENST00000394633.3_Intron	p.P286A	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	856	+								A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	c.856C>G	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.104971	0.00356	.	.	ENSG00000250120	ENST00000506939;ENST00000307360	T;T	0.60920	0.15;0.15	4.29	-1.26	0.09376	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.37732	0.1014	L	0.43554	1.36	0.09310	N	1	B;B;B	0.13594	0.008;0.006;0.001	B;B;B	0.15484	0.01;0.013;0.004	T	0.23368	-1.0190	9	0.11182	T	0.66	.	1.3387	0.02150	0.1654:0.308:0.2892:0.2374	.	286;286;286	Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2	.;PCDAA_HUMAN;.	A	286	ENSP00000421030:P286A;ENSP00000304234:P286A	ENSP00000304234:P286A	P	+	1	0	PCDHA10	140216673	0.000000	0.05858	0.000000	0.03702	0.396000	0.30629	-4.188000	0.00277	-0.066000	0.12998	0.561000	0.74099	CCC		0.358	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		18	144	0	0	0	1	0	18	144				
PFAS	5198	broad.mit.edu	37	17	8169634	8169634	+	Silent	SNP	C	C	T			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr17:8169634C>T	ENST00000314666.6	+	22	2917	c.2784C>T	c.(2782-2784)tgC>tgT	p.C928C	PFAS_ENST00000545834.1_Silent_p.C504C	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	928					'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	CTGGAAATTGCGGGCTACAGG	0.597																																						ENST00000314666.6																			0				central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35						c.(2782-2784)tgC>tgT		phosphoribosylformylglycinamidine synthase	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						118.0	96.0	104.0					17																	8169634		2203	4300	6503	SO:0001819	synonymous_variant	5198				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding	g.chr17:8169634C>T	AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"""FGAR amidotransferase"""	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.2784C>T	17.37:g.8169634C>T						PFAS_ENST00000545834.1_Silent_p.C504C	p.C928C	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN			22	2917	+			928					A6H8V8	Silent	SNP	ENST00000314666.6	37	c.2784C>T	CCDS11136.1																																																																																				0.597	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226994.2			3	57	0	0	0	1	0	3	57				
SYT8	90019	broad.mit.edu	37	11	1858203	1858203	+	Silent	SNP	C	C	A			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr11:1858203C>A	ENST00000381968.3	+	8	977	c.849C>A	c.(847-849)gtC>gtA	p.V283V	TNNI2_ENST00000252898.7_5'Flank|SYT8_ENST00000535046.1_3'UTR|TNNI2_ENST00000381906.1_5'Flank|TNNI2_ENST00000381911.1_5'Flank|SYT8_ENST00000341958.3_Silent_p.V269V	NM_138567.3	NP_612634	Q8NBV8	SYT8_HUMAN	synaptotagmin VIII	283	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				acrosome reaction (GO:0007340)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	transporter activity (GO:0005215)			breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ACGTGAAGGTCCAGCTCATGC	0.617																																						ENST00000341958.3																			0				breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6						c.(805-807)gtC>gtA		synaptotagmin VIII							75.0	87.0	83.0					11																	1858203		2202	4299	6501	SO:0001819	synonymous_variant	90019					acrosomal vesicle|integral to membrane|plasma membrane|synaptic vesicle	transporter activity	g.chr11:1858203C>A	AL137708	CCDS7726.2	11p15.5	2013-01-21			ENSG00000149043	ENSG00000149043		"""Synaptotagmins"""	19264	protein-coding gene	gene with protein product		607719				7791877	Standard	XM_005253216		Approved	DKFZp434K0322	uc001lue.1	Q8NBV8	OTTHUMG00000009026	ENST00000381968.3:c.849C>A	11.37:g.1858203C>A						SYT8_ENST00000381968.3_Silent_p.V283V|SYT8_ENST00000535046.1_3'UTR	p.V269V			Q8NBV8	SYT8_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	7	1109	+		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	283			C2 2.		A6NFJ4|Q9NSV9	Silent	SNP	ENST00000381968.3	37	c.807C>A	CCDS7726.2	.	.	.	.	.	.	.	.	.	.	c	7.638	0.680184	0.14907	.	.	ENSG00000149043	ENST00000381978	.	.	.	3.17	-1.26	0.09376	.	.	.	.	.	T	0.39172	0.1068	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.28364	-1.0046	4	.	.	.	.	0.7611	0.01007	0.2535:0.1585:0.3472:0.2408	.	.	.	.	T	282	.	.	P	+	1	0	SYT8	1814779	0.000000	0.05858	0.997000	0.53966	0.759000	0.43091	-2.122000	0.01321	-0.145000	0.11294	0.491000	0.48974	CCA		0.617	SYT8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025013.4			16	83	1	0	1.45105e-14	1	2.06665e-14	16	83				
ELMO1	9844	broad.mit.edu	37	7	37382282	37382282	+	Missense_Mutation	SNP	C	C	T	rs146510671		TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr7:37382282C>T	ENST00000310758.4	-	2	660	c.13G>A	c.(13-15)Gcg>Acg	p.A5T	ELMO1_ENST00000448602.1_Missense_Mutation_p.A5T|ELMO1_ENST00000442504.1_Missense_Mutation_p.A5T	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	5					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)	p.A5T(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						ACGATGTCCGCGGGTGGCGGC	0.502																																						ENST00000310758.4																			1	Substitution - Missense(1)	p.A5T(1)	ovary(1)	breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						c.(13-15)Gcg>Acg		engulfment and cell motility 1		C	THR/ALA,THR/ALA,THR/ALA	2,4404	4.2+/-10.8	0,2,2201	116.0	121.0	119.0		13,13,13	4.0	0.0	7	dbSNP_134	119	0,8600		0,0,4300	no	missense,missense,missense	ELMO1	NM_001206480.1,NM_001206482.1,NM_014800.10	58,58,58	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign,benign,benign	5/728,5/728,5/728	37382282	2,13004	2203	4300	6503	SO:0001583	missense	9844				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	g.chr7:37382282C>T	AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"""Engulfment and cell motility proteins"""	16286	protein-coding gene	gene with protein product		606420	"""engulfment and cell motility 1 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.13G>A	7.37:g.37382282C>T	ENSP00000312185:p.Ala5Thr					ELMO1_ENST00000442504.1_Missense_Mutation_p.A5T|ELMO1_ENST00000448602.1_Missense_Mutation_p.A5T	p.A5T	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN			2	660	-			5					A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Missense_Mutation	SNP	ENST00000310758.4	37	c.13G>A	CCDS5449.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.533964	0.64972	4.54E-4	0.0	ENSG00000155849	ENST00000310758;ENST00000442504;ENST00000448602;ENST00000455119;ENST00000455879;ENST00000453399;ENST00000445322	T;T;T;T;T;T;T	0.44881	2.53;2.53;2.53;1.53;1.52;0.94;0.91	4.94	4.03	0.46877	.	0.200167	0.41823	D	0.000804	T	0.27594	0.0678	N	0.19112	0.55	0.44323	D	0.997201	B	0.14012	0.009	B	0.14578	0.011	T	0.04635	-1.0937	10	0.25106	T	0.35	.	12.5184	0.56046	0.1731:0.8269:0.0:0.0	.	5	Q92556	ELMO1_HUMAN	T	5	ENSP00000312185:A5T;ENSP00000406952:A5T;ENSP00000394458:A5T;ENSP00000406610:A5T;ENSP00000416090:A5T;ENSP00000391734:A5T;ENSP00000397857:A5T	ENSP00000312185:A5T	A	-	1	0	ELMO1	37348807	0.961000	0.32948	0.033000	0.17914	0.945000	0.59286	2.373000	0.44266	1.166000	0.42689	0.655000	0.94253	GCG		0.502	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	NM_130442		6	257	0	0	0	1	0	6	257				
ZKSCAN2	342357	broad.mit.edu	37	16	25268247	25268247	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr16:25268247C>A	ENST00000328086.7	-	1	1005	c.202G>T	c.(202-204)Gaa>Taa	p.E68*		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	68	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		CAGCAAAGTTCCCAGAGTTTA	0.483											OREG0023690	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000328086.7																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36						c.(202-204)Gaa>Taa		zinc finger with KRAB and SCAN domains 2							60.0	63.0	62.0					16																	25268247		2197	4300	6497	SO:0001587	stop_gained	342357				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:25268247C>A	AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	25677	protein-coding gene	gene with protein product			"""zinc finger protein 694"""	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.202G>T	16.37:g.25268247C>A	ENSP00000331626:p.Glu68*		OREG0023690	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	777		p.E68*	NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN		GBM - Glioblastoma multiforme(48;0.0378)	1	1005	-			68			SCAN box.		A1L3B4|Q6ZN77	Nonsense_Mutation	SNP	ENST00000328086.7	37	c.202G>T	CCDS32410.1	.	.	.	.	.	.	.	.	.	.	C	41	8.949625	0.99014	.	.	ENSG00000155592	ENST00000328086;ENST00000536768	.	.	.	5.19	5.19	0.71726	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-21.2272	14.0873	0.64964	0.0:1.0:0.0:0.0	.	.	.	.	X	68	.	ENSP00000331626:E68X	E	-	1	0	ZKSCAN2	25175748	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.698000	0.47068	2.693000	0.91896	0.650000	0.86243	GAA		0.483	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435739.1	NM_001012981		8	128	1	0	0.0381472	1	0.0426886	8	128				
CDH8	1006	broad.mit.edu	37	16	61935267	61935267	+	Silent	SNP	T	T	G			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr16:61935267T>G	ENST00000577390.1	-	3	1317	c.363A>C	c.(361-363)atA>atC	p.I121I	CDH8_ENST00000299345.6_Silent_p.I121I|CDH8_ENST00000577730.1_Silent_p.I121I|CDH8_ENST00000584337.1_Silent_p.I121I	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	121	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CAAGTCTTTTTATAGCATGGA	0.428																																						ENST00000577390.1																			0				biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112						c.(361-363)atA>atC		cadherin 8, type 2							121.0	119.0	120.0					16																	61935267		2203	4300	6503	SO:0001819	synonymous_variant	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61935267T>G	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.363A>C	16.37:g.61935267T>G						CDH8_ENST00000299345.6_Silent_p.I121I|CDH8_ENST00000584337.1_Silent_p.I121I|CDH8_ENST00000577730.1_Silent_p.I121I	p.I121I	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	3	1317	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	121			Cadherin 1.		B3KWC1|Q14DC6|Q9ULB2	Silent	SNP	ENST00000577390.1	37	c.363A>C	CCDS10802.1																																																																																				0.428	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		5	190	0	0	0	1	0	5	190				
SLK	9748	broad.mit.edu	37	10	105780244	105780244	+	Splice_Site	SNP	A	A	G			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr10:105780244A>G	ENST00000369755.3	+	17	3866		c.e17-1		SLK_ENST00000335753.4_Splice_Site	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase						apoptotic process (GO:0006915)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TCTTATTTATAGTTTGCTGCA	0.333																																					NSCLC(111;540 1651 1927 4474 17706)	ENST00000369755.3																			0				kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8						c.e17-1		STE20-like kinase							49.0	51.0	50.0					10																	105780244		2203	4300	6503	SO:0001630	splice_region_variant	9748				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity	g.chr10:105780244A>G		CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"""SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)"", ""STE20-like kinase (yeast)"""			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.3322-1A>G	10.37:g.105780244A>G						SLK_ENST00000335753.4_Splice_Site		NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	17	3866	+		Colorectal(252;0.178)						D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Splice_Site	SNP	ENST00000369755.3	37		CCDS7553.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.151182	0.78001	.	.	ENSG00000065613	ENST00000335753;ENST00000369755	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.195	0.73081	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLK	105770234	1.000000	0.71417	0.999000	0.59377	0.876000	0.50452	9.339000	0.96797	1.981000	0.57761	0.528000	0.53228	.		0.333	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050188.1	NM_014720	Intron	11	51	0	0	0	1	0	11	51				
BRSK1	84446	broad.mit.edu	37	19	55816167	55816167	+	Silent	SNP	G	G	T			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr19:55816167G>T	ENST00000309383.1	+	14	1873	c.1596G>T	c.(1594-1596)ccG>ccT	p.P532P	BRSK1_ENST00000326848.7_Silent_p.P227P|BRSK1_ENST00000590333.1_Silent_p.P548P|BRSK1_ENST00000588584.1_3'UTR	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	532	Pro-rich.				axonogenesis (GO:0007409)|cellular response to DNA damage stimulus (GO:0006974)|centrosome duplication (GO:0051298)|establishment of cell polarity (GO:0030010)|G2 DNA damage checkpoint (GO:0031572)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|protein phosphorylation (GO:0006468)|response to UV (GO:0009411)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		CCGGGACCCCGGGGACAACAC	0.751																																						ENST00000309383.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48						c.(1594-1596)ccG>ccT		BR serine/threonine kinase 1							4.0	5.0	5.0					19																	55816167		2056	3998	6054	SO:0001819	synonymous_variant	84446				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity	g.chr19:55816167G>T	AB058714	CCDS12921.1	19q13.4	2008-02-05				ENSG00000160469			18994	protein-coding gene	gene with protein product		609235				14976552	Standard	NM_032430		Approved	KIAA1811	uc002qkg.3	Q8TDC3		ENST00000309383.1:c.1596G>T	19.37:g.55816167G>T						BRSK1_ENST00000588584.1_3'UTR|BRSK1_ENST00000326848.7_Silent_p.P227P|BRSK1_ENST00000590333.1_Silent_p.P548P	p.P532P	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)	14	1873	+		Renal(1328;0.245)	532			Pro-rich.		F1DG44|Q5J5B5|Q8NDD0|Q8NDR4|Q8TDC2|Q96AV4|Q96JL4	Silent	SNP	ENST00000309383.1	37	c.1596G>T	CCDS12921.1																																																																																				0.751	BRSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452787.1	NM_032430		2	7	1	0	1	1	1	2	7				
FAM86EP	348926	broad.mit.edu	37	4	3949560	3949560	+	RNA	SNP	G	G	A	rs552700391	byFrequency	TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr4:3949560G>A	ENST00000313946.8	-	0	542				AC226119.5_ENST00000281228.8_RNA					family with sequence similarity 86, member E, pseudogene																		CCCTGGGGCCGTCTAAGTTGG	0.592																																						ENST00000281228.8																			0																																																			348926							g.chr4:3949560G>A			4p16.3	2011-07-01			ENSG00000251669	ENSG00000251669			28017	pseudogene	pseudogene						12477932	Standard	NR_024253		Approved		uc011bvu.2		OTTHUMG00000159867		4.37:g.3949560G>A						FAM86EP_ENST00000313946.8_RNA								0	649	-									RNA	SNP	ENST00000313946.8	37																																																																																						0.592	FAM86EP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000357822.1			3	58	0	0	0	1	0	3	58				
CARD11	84433	broad.mit.edu	37	7	2977611	2977611	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr7:2977611C>G	ENST00000396946.4	-	8	1476	c.1073G>C	c.(1072-1074)tGt>tCt	p.C358S		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	358					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GTACATTTCACAGTCCTTTCC	0.572			Mis		DLBCL																																	ENST00000396946.4				Dom	yes		7	7p22	84433	Mis	"""caspase recruitment domain family, member 11"""			L			DLBCL		0				NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150						c.(1072-1074)tGt>tCt		caspase recruitment domain family, member 11							148.0	120.0	130.0					7																	2977611		2203	4300	6503	SO:0001583	missense	84433				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	g.chr7:2977611C>G	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.1073G>C	7.37:g.2977611C>G	ENSP00000380150:p.Cys358Ser						p.C358S	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	8	1476	-		Ovarian(82;0.0115)	358					A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	37	c.1073G>C	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	C	21.9	4.214602	0.79352	.	.	ENSG00000198286	ENST00000396946	T	0.32515	1.45	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.39091	0.1065	N	0.25201	0.72	0.58432	D	0.999999	D	0.89917	1.0	D	0.78314	0.991	T	0.11518	-1.0584	10	0.33141	T	0.24	-23.901	13.0816	0.59117	0.0:0.8388:0.1612:0.0	.	358	Q9BXL7	CAR11_HUMAN	S	358	ENSP00000380150:C358S	ENSP00000380150:C358S	C	-	2	0	CARD11	2944137	1.000000	0.71417	0.995000	0.50966	0.989000	0.77384	5.780000	0.68956	2.318000	0.78349	0.591000	0.81541	TGT		0.572	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		7	174	0	0	0	1	0	7	174				
PCDHA9	9752	broad.mit.edu	37	5	140362135	140362135	+	Silent	SNP	C	C	A			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr5:140362135C>A	ENST00000532602.1	+	3	3562	c.2529C>A	c.(2527-2529)tcC>tcA	p.S843S	PCDHAC2_ENST00000289269.5_Silent_p.S900S|PCDHA1_ENST00000504120.2_Silent_p.S843S|PCDHAC1_ENST00000253807.2_Silent_p.S856S|PCDHA3_ENST00000522353.2_Silent_p.S843S|PCDHA5_ENST00000529859.1_Silent_p.S829S|PCDHA6_ENST00000529310.1_Silent_p.S843S|PCDHA6_ENST00000527624.1_Silent_p.S579S|PCDHA4_ENST00000530339.1_Silent_p.S840S|PCDHA11_ENST00000398640.2_Silent_p.S842S|PCDHA13_ENST00000289272.2_Silent_p.S843S|PCDHA4_ENST00000512229.2_Silent_p.S840S|PCDHA2_ENST00000526136.1_Silent_p.S841S|PCDHA10_ENST00000506939.2_Silent_p.S578S|PCDHA10_ENST00000307360.5_Silent_p.S841S|PCDHA5_ENST00000529619.1_Silent_p.S829S|PCDHA7_ENST00000525929.1_Silent_p.S830S|PCDHA12_ENST00000398631.2_Silent_p.S834S|PCDHA13_ENST00000409494.1_Silent_p.S843S|PCDHA1_ENST00000394633.3_Silent_p.S579S|PCDHA8_ENST00000531613.1_Silent_p.S843S	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	843	5 X 4 AA repeats of P-X-X-P.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAACAGTATCCAGTGCAACAC	0.498																																					Melanoma(55;1800 1972 14909)	ENST00000532602.1																			0				breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59						c.(2527-2529)tcC>tcA									110.0	101.0	104.0					5																	140362135		2203	4300	6503	SO:0001819	synonymous_variant	9752							g.chr5:140362135C>A	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.2529C>A	5.37:g.140362135C>A						PCDHA1_ENST00000394633.3_Silent_p.S579S|PCDHA8_ENST00000531613.1_Silent_p.S843S|PCDHA13_ENST00000409494.1_Silent_p.S843S|PCDHA4_ENST00000512229.2_Silent_p.S840S|PCDHA5_ENST00000529859.1_Silent_p.S829S|PCDHA6_ENST00000527624.1_Silent_p.S579S|PCDHA6_ENST00000529310.1_Silent_p.S843S|PCDHA2_ENST00000526136.1_Silent_p.S841S|PCDHA10_ENST00000307360.5_Silent_p.S841S|PCDHA7_ENST00000525929.1_Silent_p.S830S|PCDHAC2_ENST00000289269.5_Silent_p.S900S|PCDHAC1_ENST00000253807.2_Silent_p.S856S|PCDHA3_ENST00000522353.2_Silent_p.S843S|PCDHA4_ENST00000530339.1_Silent_p.S840S|PCDHA13_ENST00000289272.2_Silent_p.S843S|PCDHA5_ENST00000529619.1_Silent_p.S829S|PCDHA10_ENST00000506939.2_Silent_p.S578S|PCDHA11_ENST00000398640.2_Silent_p.S842S|PCDHA1_ENST00000504120.2_Silent_p.S843S|PCDHA12_ENST00000398631.2_Silent_p.S834S	p.S843S	NM_031857.1	NP_114063.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	3562	+								O15053|Q2M3S5	Silent	SNP	ENST00000532602.1	37	c.2529C>A	CCDS54920.1																																																																																				0.498	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		13	87	1	0	2.61681e-11	1	3.4164e-11	13	87				
ATG7	10533	broad.mit.edu	37	3	11383734	11383734	+	Missense_Mutation	SNP	A	A	G	rs149127802		TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr3:11383734A>G	ENST00000354449.3	+	11	1131	c.1106A>G	c.(1105-1107)aAt>aGt	p.N369S	ATG7_ENST00000446450.2_Missense_Mutation_p.N330S|ATG7_ENST00000354956.5_Missense_Mutation_p.N369S	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	369					adult walking behavior (GO:0007628)|C-terminal protein lipidation (GO:0006501)|cardiac muscle cell development (GO:0055013)|cellular amino acid metabolic process (GO:0006520)|cellular protein modification process (GO:0006464)|cellular response to hyperoxia (GO:0071455)|cellular response to nitrogen starvation (GO:0006995)|cellular response to starvation (GO:0009267)|central nervous system neuron axonogenesis (GO:0021955)|cerebellar Purkinje cell layer development (GO:0021680)|cerebral cortex development (GO:0021987)|late nucleophagy (GO:0044805)|liver development (GO:0001889)|membrane fusion (GO:0061025)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative stranded viral RNA replication (GO:0039689)|neurological system process (GO:0050877)|piecemeal microautophagy of nucleus (GO:0034727)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein modification process (GO:0031401)|post-embryonic development (GO:0009791)|protein catabolic process (GO:0030163)|protein lipidation (GO:0006497)|protein modification by small protein conjugation (GO:0032446)|protein transport (GO:0015031)|pyramidal neuron development (GO:0021860)|regulation of protein ubiquitination (GO:0031396)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)	Atg12 activating enzyme activity (GO:0019778)|Atg8 activating enzyme (GO:0019779)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)|ubiquitin activating enzyme activity (GO:0004839)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						TTGGGTTGCAATGTAGCTAGG	0.468																																						ENST00000354449.3																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						c.(1105-1107)aAt>aGt		autophagy related 7		A	SER/ASN,SER/ASN,SER/ASN	0,4406		0,0,2203	176.0	168.0	170.0		1106,989,1106	4.7	1.0	3	dbSNP_134	170	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	ATG7	NM_001136031.2,NM_001144912.1,NM_006395.2	46,46,46	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign,benign,benign	369/677,330/624,369/704	11383734	1,13005	2203	4300	6503	SO:0001583	missense	10533				autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity	g.chr3:11383734A>G	AF094516	CCDS2605.1, CCDS46752.1, CCDS46753.1	3p25.3-p25.2	2014-02-18	2012-06-06	2005-09-11	ENSG00000197548	ENSG00000197548		"""Ubiquitin-like modifier activating enzymes"""	16935	protein-coding gene	gene with protein product	"""ubiquitin-activating enzyme E1-like protein"""	608760	"""APG7 autophagy 7-like (S. cerevisiae)"", ""ATG7 autophagy related 7 homolog (S. cerevisiae)"""	APG7L		10233149	Standard	NM_006395		Approved	GSA7, DKFZp434N0735	uc003bwc.3	O95352	OTTHUMG00000129740	ENST00000354449.3:c.1106A>G	3.37:g.11383734A>G	ENSP00000346437:p.Asn369Ser					ATG7_ENST00000354956.5_Missense_Mutation_p.N369S|ATG7_ENST00000446450.2_Missense_Mutation_p.N330S	p.N369S	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN			11	1131	+			369					B4E170|E9PB95|Q7L8L0|Q9BWP2|Q9UFH4	Missense_Mutation	SNP	ENST00000354449.3	37	c.1106A>G	CCDS2605.1	.	.	.	.	.	.	.	.	.	.	A	14.53	2.563932	0.45694	0.0	1.16E-4	ENSG00000197548	ENST00000446450;ENST00000354956;ENST00000354449	T;T;T	0.29142	1.58;1.58;1.58	5.87	4.73	0.59995	UBA/THIF-type NAD/FAD binding fold (1);Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.098980	0.64402	D	0.000002	T	0.27241	0.0668	L	0.52011	1.625	0.48696	D	0.999693	B;B;B	0.30563	0.136;0.092;0.285	B;B;B	0.35859	0.099;0.053;0.212	T	0.06552	-1.0820	10	0.23302	T	0.38	-25.9376	7.1315	0.25504	0.8385:0.0:0.1615:0.0	.	330;369;369	E9PB95;O95352-2;O95352	.;.;ATG7_HUMAN	S	330;369;369	ENSP00000412580:N330S;ENSP00000347042:N369S;ENSP00000346437:N369S	ENSP00000346437:N369S	N	+	2	0	ATG7	11358734	1.000000	0.71417	0.998000	0.56505	0.960000	0.62799	5.311000	0.65786	2.248000	0.74166	0.533000	0.62120	AAT		0.468	ATG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251951.3	NM_006395		5	267	0	0	0	1	0	5	267				
MOB2	81532	broad.mit.edu	37	11	1491713	1491713	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr11:1491713C>A	ENST00000329957.6	-	5	685	c.496G>T	c.(496-498)Gaa>Taa	p.E166*	MOB2_ENST00000526462.1_5'UTR	NM_001172223.1	NP_001165694.1	Q70IA6	MOB2_HUMAN	MOB kinase activator 2	135					actin cytoskeleton organization (GO:0030036)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein phosphorylation (GO:0001934)	cytoplasm (GO:0005737)|neuron projection terminus (GO:0044306)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|kidney(2)|lung(1)	4						CTGGGGAATTCTCTGCCTGGG	0.622																																						ENST00000329957.6																			0				breast(1)|kidney(2)|lung(1)	4						c.(496-498)Gaa>Taa		MOB kinase activator 2							65.0	71.0	69.0					11																	1491713		2052	4183	6235	SO:0001587	stop_gained	81532					nucleus|perinuclear region of cytoplasm	metal ion binding	g.chr11:1491713C>A		CCDS53591.1	11p15.5	2011-09-28			ENSG00000182208	ENSG00000182208		"""MOB kinase activators"""	24904	protein-coding gene	gene with protein product	"""MOB2 Mps One Binder homolog (yeast)"""	611969				11223154, 15067004	Standard	NM_053005		Approved	HCCA2	uc010qwz.2	Q70IA6	OTTHUMG00000165545	ENST00000329957.6:c.496G>T	11.37:g.1491713C>A	ENSP00000328694:p.Glu166*					MOB2_ENST00000526462.1_5'UTR	p.E166*	NM_001172223.1	NP_001165694.1	Q70IA6	MOB2_HUMAN			5	685	-			135					B4DKP3|Q96M67	Nonsense_Mutation	SNP	ENST00000329957.6	37	c.496G>T	CCDS53591.1	.	.	.	.	.	.	.	.	.	.	C	37	6.183755	0.97357	.	.	ENSG00000182208	ENST00000329957	.	.	.	4.05	4.05	0.47172	.	0.119013	0.56097	D	0.000032	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-19.9214	16.4005	0.83639	0.0:1.0:0.0:0.0	.	.	.	.	X	166	.	ENSP00000328694:E166X	E	-	1	0	AC091196.1	1448289	1.000000	0.71417	0.987000	0.45799	0.932000	0.56968	7.146000	0.77373	2.106000	0.64143	0.462000	0.41574	GAA		0.622	MOB2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000384770.1	NM_053005		3	44	1	0	0.00909568	1	0.0106874	3	44				
GFM2	84340	broad.mit.edu	37	5	74021464	74021464	+	Splice_Site	SNP	C	C	A			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr5:74021464C>A	ENST00000296805.3	-	19	2486		c.e19+1		GFM2_ENST00000345239.2_Splice_Site|GFM2_ENST00000509430.1_Splice_Site|RNU6-658P_ENST00000384606.1_RNA|GFM2_ENST00000515125.1_Intron	NM_032380.3	NP_115756.2			G elongation factor, mitochondrial 2											breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		TAGTTCTATACCTTTTGCACG	0.423																																						ENST00000296805.3																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14						c.e19+1		G elongation factor, mitochondrial 2							102.0	93.0	96.0					5																	74021464		2203	4300	6503	SO:0001630	splice_region_variant	84340				mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity	g.chr5:74021464C>A	AF111808	CCDS4023.1, CCDS4024.1, CCDS47232.1	5q13	2008-02-05			ENSG00000164347	ENSG00000164347			29682	protein-coding gene	gene with protein product		606544				11735030	Standard	NM_001281302		Approved	EFG2, FLJ21661	uc003kdh.1	Q969S9	OTTHUMG00000102058	ENST00000296805.3:c.2028+1G>T	5.37:g.74021464C>A						GFM2_ENST00000515125.1_Intron|GFM2_ENST00000345239.2_Splice_Site|GFM2_ENST00000509430.1_Splice_Site		NM_032380.3	NP_115756.2	Q969S9	RRF2M_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)	19	2486	-		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)							Splice_Site	SNP	ENST00000296805.3	37		CCDS4023.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.268929	0.80469	.	.	ENSG00000164347	ENST00000296805;ENST00000345239;ENST00000509430	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0693	0.97712	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GFM2	74057220	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	6.841000	0.75374	2.758000	0.94735	0.563000	0.77884	.		0.423	GFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219860.2	NM_032380	Intron	3	72	1	0	0.004672	1	0.00563036	3	72				
ATP6V1G1	9550	broad.mit.edu	37	9	117354865	117354865	+	Missense_Mutation	SNP	A	A	C	rs72752535	byFrequency	TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr9:117354865A>C	ENST00000374050.3	+	2	209	c.116A>C	c.(115-117)gAa>gCa	p.E39A	ATP6V1G1_ENST00000473413.1_3'UTR	NM_004888.3	NP_004879.1	O75348	VATG1_HUMAN	ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1	39					cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	ATPase binding (GO:0051117)|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances (GO:0016820)			endometrium(1)|lung(2)|prostate(1)|skin(1)	5						GCCAAAGAAGAAGCTCAGGCT	0.463													A|||	6	0.00119808	0.0	0.0014	5008	,	,		18424	0.001		0.003	False		,,,				2504	0.001					ENST00000374050.3																			0				endometrium(1)|lung(2)|prostate(1)|skin(1)	5						c.(115-117)gAa>gCa		ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1		A	ALA/GLU	4,4390		0,4,2193	55.0	54.0	55.0		116	4.5	1.0	9	dbSNP_130	55	31,8559		0,31,4264	yes	missense	ATP6V1G1	NM_004888.3	107	0,35,6457	CC,CA,AA		0.3609,0.091,0.2696	benign	39/119	117354865	35,12949	2197	4295	6492	SO:0001583	missense	9550				cellular iron ion homeostasis|insulin receptor signaling pathway|proton transport|transferrin transport	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase complex	ATPase binding|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances	g.chr9:117354865A>C	AF038954	CCDS6807.1	9q33.1	2010-04-21	2006-01-13	2002-05-10	ENSG00000136888	ENSG00000136888		"""ATPases / V-type"""	864	protein-coding gene	gene with protein product		607296	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), member J"", ""ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G isoform 1"""	ATP6J, ATP6G1		9653160	Standard	NM_004888		Approved	ATP6GL, Vma10, ATP6G, DKFZp547P234	uc004bjc.3	O75348	OTTHUMG00000021023	ENST00000374050.3:c.116A>C	9.37:g.117354865A>C	ENSP00000363162:p.Glu39Ala					ATP6V1G1_ENST00000473413.1_3'UTR	p.E39A	NM_004888.3	NP_004879.1	O75348	VATG1_HUMAN			2	209	+			39					Q6IB33	Missense_Mutation	SNP	ENST00000374050.3	37	c.116A>C	CCDS6807.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	A	16.00	2.998943	0.54147	9.1E-4	0.003609	ENSG00000136888	ENST00000374050	T	0.55930	0.49	5.68	4.54	0.55810	.	0.148106	0.64402	N	0.000010	T	0.51568	0.1682	M	0.75085	2.285	0.80722	D	1	B	0.09022	0.002	B	0.09377	0.004	T	0.50668	-0.8801	10	0.49607	T	0.09	.	10.1267	0.42654	0.9236:0.0:0.0764:0.0	.	39	O75348	VATG1_HUMAN	A	39	ENSP00000363162:E39A	ENSP00000363162:E39A	E	+	2	0	ATP6V1G1	116394686	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	8.709000	0.91379	1.091000	0.41335	0.528000	0.53228	GAA		0.463	ATP6V1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055454.1	NM_004888		2	7	0	0	0	1	0	2	7				
RUFY3	22902	broad.mit.edu	37	4	71634338	71634338	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr4:71634338A>T	ENST00000226328.4	+	5	1219	c.656A>T	c.(655-657)gAt>gTt	p.D219V	RUFY3_ENST00000536664.1_Missense_Mutation_p.D203V|RUFY3_ENST00000502653.1_Missense_Mutation_p.D166V|RUFY3_ENST00000417478.2_Missense_Mutation_p.D279V|RUFY3_ENST00000381006.3_Missense_Mutation_p.D219V	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	219	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				negative regulation of axonogenesis (GO:0050771)	filopodium (GO:0030175)|growth cone (GO:0030426)				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			AATGTCATTGATGCCAATTTC	0.453																																						ENST00000226328.4																			0				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16						c.(655-657)gAt>gTt		RUN and FYVE domain containing 3							212.0	200.0	204.0					4																	71634338		2203	4300	6503	SO:0001583	missense	22902				negative regulation of axonogenesis	filopodium|growth cone		g.chr4:71634338A>T	AF112221	CCDS3547.1, CCDS34001.1, CCDS47068.1, CCDS75138.1	4q13.3	2009-05-29			ENSG00000018189	ENSG00000018189		"""Zinc fingers, FYVE domain containing"""	30285	protein-coding gene	gene with protein product	"""single axon-related 1"""	611194				17439943	Standard	NM_001130709		Approved	RIPx, KIAA0871, Singar1	uc003hfr.3	Q7L099	OTTHUMG00000129910	ENST00000226328.4:c.656A>T	4.37:g.71634338A>T	ENSP00000226328:p.Asp219Val					RUFY3_ENST00000536664.1_Missense_Mutation_p.D203V|RUFY3_ENST00000417478.2_Missense_Mutation_p.D279V|RUFY3_ENST00000502653.1_Missense_Mutation_p.D166V|RUFY3_ENST00000381006.3_Missense_Mutation_p.D219V	p.D219V	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	Lung(101;0.235)		5	1219	+		all_hematologic(202;0.248)	219			RUN.		B3KM25|B4DYW7|D9N163|O94948|Q9UI00	Missense_Mutation	SNP	ENST00000226328.4	37	c.656A>T	CCDS3547.1	.	.	.	.	.	.	.	.	.	.	A	29.6	5.016697	0.93404	.	.	ENSG00000018189	ENST00000503876;ENST00000417478;ENST00000381006;ENST00000226328;ENST00000536664;ENST00000513597;ENST00000502653	T;T;T;T;T;T;T	0.14022	2.54;2.54;2.54;2.54;2.54;2.54;2.54	5.63	5.63	0.86233	RUN (3);	0.000000	0.85682	D	0.000000	T	0.46347	0.1388	M	0.90309	3.105	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.998;0.997	D;D;D;D	0.97110	1.0;0.997;0.997;0.988	T	0.56980	-0.7889	10	0.87932	D	0	-14.6897	15.8371	0.78808	1.0:0.0:0.0:0.0	.	203;219;219;279	B4DKC2;Q7L099-3;Q7L099;Q7L099-2	.;.;RUFY3_HUMAN;.	V	155;279;219;219;203;155;166	ENSP00000426734:D155V;ENSP00000399771:D279V;ENSP00000370394:D219V;ENSP00000226328:D219V;ENSP00000443652:D203V;ENSP00000425574:D155V;ENSP00000425400:D166V	ENSP00000226328:D219V	D	+	2	0	RUFY3	71853202	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.142000	0.94618	2.144000	0.66660	0.455000	0.32223	GAT		0.453	RUFY3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252161.2	NM_014961		15	232	0	0	0	1	0	15	232				
ZNF766	90321	broad.mit.edu	37	19	52786650	52786650	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr19:52786650C>G	ENST00000439461.1	+	3	301	c.258C>G	c.(256-258)atC>atG	p.I86M	ZNF766_ENST00000600821.1_Missense_Mutation_p.I81M|CTD-2525I3.5_ENST00000594865.1_RNA|ZNF766_ENST00000593612.1_Missense_Mutation_p.I101M|ZNF766_ENST00000599581.1_Missense_Mutation_p.I86M|ZNF766_ENST00000359102.4_Missense_Mutation_p.I101M|MIR643_ENST00000385267.1_RNA	NM_001010851.2	NP_001010851.1	Q5HY98	ZN766_HUMAN	zinc finger protein 766	86					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	17				GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)		GGGAAGGTATCAAAGATATCA	0.418																																						ENST00000439461.1																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	17						c.(256-258)atC>atG		zinc finger protein 766							65.0	62.0	63.0					19																	52786650		1923	4157	6080	SO:0001583	missense	90321				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52786650C>G	AK024074	CCDS46163.1	19q13.33	2013-01-08				ENSG00000196214		"""Zinc fingers, C2H2-type"", ""-"""	28063	protein-coding gene	gene with protein product							Standard	XM_006723458		Approved		uc002pyr.1	Q5HY98		ENST00000439461.1:c.258C>G	19.37:g.52786650C>G	ENSP00000409652:p.Ile86Met					ZNF766_ENST00000593612.1_Missense_Mutation_p.I101M|ZNF766_ENST00000600821.1_Missense_Mutation_p.I81M|ZNF766_ENST00000599581.1_Missense_Mutation_p.I86M|ZNF766_ENST00000359102.4_Missense_Mutation_p.I101M	p.I86M	NM_001010851.2	NP_001010851.1	Q5HY98	ZN766_HUMAN		GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)	3	301	+			86					B2RNE0|Q7Z326	Missense_Mutation	SNP	ENST00000439461.1	37	c.258C>G	CCDS46163.1	.	.	.	.	.	.	.	.	.	.	C	2.072	-0.412757	0.04799	.	.	ENSG00000196214	ENST00000439461;ENST00000359102	T;T	0.06768	3.26;3.5	2.11	-1.78	0.07957	.	.	.	.	.	T	0.05227	0.0139	N	0.17082	0.46	0.09310	N	1	B;B;B	0.19583	0.037;0.022;0.022	B;B;B	0.14023	0.004;0.01;0.001	T	0.38243	-0.9670	9	0.45353	T	0.12	.	9.7262	0.40333	0.0:0.3555:0.6445:0.0	.	101;101;86	G3XAE0;B3KUR0;Q5HY98	.;.;ZN766_HUMAN	M	86;101	ENSP00000409652:I86M;ENSP00000352005:I101M	ENSP00000352005:I101M	I	+	3	3	ZNF766	57478462	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.434000	0.06939	-0.322000	0.08615	-0.913000	0.02753	ATC		0.418	ZNF766-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462764.1	NM_001010851		7	14	0	0	0	1	0	7	14				
ATP7A	538	broad.mit.edu	37	X	77244942	77244942	+	Missense_Mutation	SNP	A	A	G	rs368147403		TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chrX:77244942A>G	ENST00000341514.6	+	4	979	c.824A>G	c.(823-825)aAt>aGt	p.N275S	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Missense_Mutation_p.N275S	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	275					blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	TCATATACCAATGATTCAACA	0.388																																						ENST00000341514.6																			0				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						c.(823-825)aAt>aGt		ATPase, Cu++ transporting, alpha polypeptide		A	SER/ASN	1,3834		0,1,1631,571	155.0	137.0	143.0		824	-8.9	0.0	X		143	0,6723		0,0,2427,1869	no	missense	ATP7A	NM_000052.4	46	0,1,4058,2440	GG,GA,AA,A		0.0,0.0261,0.0095	benign	275/1501	77244942	1,10557	2203	4296	6499	SO:0001583	missense	538				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	g.chrX:77244942A>G	L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"""ATPases / P-type"""	869	protein-coding gene	gene with protein product	"""copper pump 1"", ""copper-transporting ATPase 1"""	300011	"""Menkes syndrome"""	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.824A>G	X.37:g.77244942A>G	ENSP00000345728:p.Asn275Ser					ATP7A_ENST00000343533.5_Missense_Mutation_p.N275S|ATP7A_ENST00000350425.4_Intron	p.N275S	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN			4	979	+			275					B1AT72|O00227|O00745|Q9BYY8	Missense_Mutation	SNP	ENST00000341514.6	37	c.824A>G	CCDS35339.1	.	.	.	.	.	.	.	.	.	.	A	0	-2.786007	0.00078	2.61E-4	0.0	ENSG00000165240	ENST00000343533;ENST00000341514;ENST00000355691	D;D	0.87029	-2.2;-2.2	5.12	-8.92	0.00774	Heavy metal-associated domain, HMA (1);	2.302070	0.01701	N	0.027171	T	0.68091	0.2963	N	0.04245	-0.25	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.06405	0.0;0.002	T	0.64736	-0.6337	10	0.07990	T	0.79	-19.7912	10.8456	0.46741	0.24:0.0854:0.5896:0.085	.	275;285	Q04656;Q59HD1	ATP7A_HUMAN;.	S	275;275;285	ENSP00000343026:N275S;ENSP00000345728:N275S	ENSP00000345728:N275S	N	+	2	0	ATP7A	77131598	0.000000	0.05858	0.002000	0.10522	0.228000	0.25075	-0.481000	0.06552	-2.452000	0.00542	-1.051000	0.02340	AAT		0.388	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1	NM_000052		4	169	0	0	0	1	0	4	169				
ADAMTS20	80070	broad.mit.edu	37	12	43771210	43771210	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr12:43771210G>T	ENST00000389420.3	-	32	4952	c.4953C>A	c.(4951-4953)agC>agA	p.S1651R		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1651	TSP type-1 14. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		AATGCAAACAGCTGTTAATGC	0.408																																						ENST00000389420.3																			0				breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(4951-4953)agC>agA		ADAM metallopeptidase with thrombospondin type 1 motif, 20							102.0	92.0	96.0					12																	43771210		2203	4300	6503	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43771210G>T	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.4953C>A	12.37:g.43771210G>T	ENSP00000374071:p.Ser1651Arg						p.S1651R	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	32	4952	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	1651			TSP type-1 14.		A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.4953C>A	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	G	3.790	-0.043875	0.07452	.	.	ENSG00000173157	ENST00000389420	T	0.58940	0.3	4.99	2.05	0.26809	.	0.347848	0.24513	N	0.037873	T	0.41949	0.1181	L	0.51422	1.61	0.80722	D	1	B	0.11235	0.004	B	0.10450	0.005	T	0.13388	-1.0511	10	0.17369	T	0.5	.	2.7268	0.05216	0.2266:0.1267:0.5178:0.1289	.	1651	P59510	ATS20_HUMAN	R	1651	ENSP00000374071:S1651R	ENSP00000374071:S1651R	S	-	3	2	ADAMTS20	42057477	0.005000	0.15991	0.687000	0.30102	0.744000	0.42396	-0.200000	0.09478	0.318000	0.23185	0.655000	0.94253	AGC		0.408	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		3	43	1	0	1	1	1	3	43				
MRPL9	65005	broad.mit.edu	37	1	151735551	151735551	+	Silent	SNP	C	C	T			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr1:151735551C>T	ENST00000368830.3	-	2	309	c.225G>A	c.(223-225)cgG>cgA	p.R75R	RP11-98D18.2_ENST00000420382.1_RNA|OAZ3_ENST00000321531.5_5'UTR|OAZ3_ENST00000315067.8_5'UTR|RP11-98D18.3_ENST00000512280.1_RNA|OAZ3_ENST00000453029.2_5'Flank|MRPL9_ENST00000467306.1_5'UTR|MRPL9_ENST00000368829.3_Silent_p.R75R|OAZ3_ENST00000479764.1_5'Flank	NM_031420.2	NP_113608.1	Q9BYD2	RM09_HUMAN	mitochondrial ribosomal protein L9	75					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CGCGATGTCGCCGGTGCAGGC	0.657																																						ENST00000368830.3																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12						c.(223-225)cgG>cgA		mitochondrial ribosomal protein L9							49.0	52.0	51.0					1																	151735551		2203	4300	6503	SO:0001819	synonymous_variant	65005				translation	mitochondrial ribosome	structural constituent of ribosome	g.chr1:151735551C>T	AK026363	CCDS1003.1, CCDS72916.1	1q21	2012-09-13			ENSG00000143436	ENSG00000143436		"""Mitochondrial ribosomal proteins / large subunits"""	14277	protein-coding gene	gene with protein product		611824					Standard	XM_005245455		Approved		uc001eyv.3	Q9BYD2	OTTHUMG00000013063	ENST00000368830.3:c.225G>A	1.37:g.151735551C>T						MRPL9_ENST00000368829.3_Silent_p.R75R|OAZ3_ENST00000321531.5_5'UTR|OAZ3_ENST00000315067.8_5'UTR|MRPL9_ENST00000467306.1_5'UTR	p.R75R	NM_031420.2	NP_113608.1	Q9BYD2	RM09_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		2	309	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		75					B2RD99|Q5SZR2|Q9BSW8	Silent	SNP	ENST00000368830.3	37	c.225G>A	CCDS1003.1																																																																																				0.657	MRPL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036653.2	NM_031420		14	33	0	0	0	1	0	14	33				
ZNF45	7596	broad.mit.edu	37	19	44417765	44417765	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr19:44417765C>A	ENST00000269973.5	-	10	2913	c.1823G>T	c.(1822-1824)gGa>gTa	p.G608V	RP11-15A1.2_ENST00000586247.1_RNA|ZNF45_ENST00000589703.1_Missense_Mutation_p.G608V	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45	608					gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						TGGTCTCTCTCCTGTGTGGAC	0.488																																						ENST00000269973.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						c.(1822-1824)gGa>gTa		zinc finger protein 45							194.0	178.0	183.0					19																	44417765		2203	4300	6503	SO:0001583	missense	7596				multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:44417765C>A	M67509	CCDS12632.1	19q13.2	2013-01-08	2005-01-11			ENSG00000124459		"""Zinc fingers, C2H2-type"", ""-"""	13111	protein-coding gene	gene with protein product		194554	"""zinc finger protein 45 (a Kruppel-associated box (KRAB) domain polypeptide)"", ""zinc finger protein 13"""	ZNF13		9067431	Standard	NM_003425		Approved		uc002oxw.2	Q02386		ENST00000269973.5:c.1823G>T	19.37:g.44417765C>A	ENSP00000269973:p.Gly608Val					RP11-15A1.2_ENST00000586247.1_RNA|ZNF45_ENST00000589703.1_Missense_Mutation_p.G608V	p.G608V	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN			10	2913	-			608					P17016|P78472|Q9P1U9	Missense_Mutation	SNP	ENST00000269973.5	37	c.1823G>T	CCDS12632.1	.	.	.	.	.	.	.	.	.	.	C	19.43	3.825241	0.71143	.	.	ENSG00000124459	ENST00000269973	T	0.23552	1.9	3.45	3.45	0.39498	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.51958	0.1705	M	0.81112	2.525	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.60717	-0.7208	9	0.72032	D	0.01	-10.0796	14.181	0.65574	0.0:1.0:0.0:0.0	.	608	Q02386	ZNF45_HUMAN	V	608	ENSP00000269973:G608V	ENSP00000269973:G608V	G	-	2	0	ZNF45	49109605	0.911000	0.30947	0.988000	0.46212	0.992000	0.81027	2.819000	0.48049	1.929000	0.55896	0.455000	0.32223	GGA		0.488	ZNF45-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459919.1	NM_003425		8	419	1	0	2.62144e-13	1	3.62376e-13	8	419				
POLI	11201	broad.mit.edu	37	18	51820612	51820612	+	Silent	SNP	A	A	G	rs201355805	byFrequency	TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr18:51820612A>G	ENST00000579534.1	+	10	2141	c.1998A>G	c.(1996-1998)caA>caG	p.Q666Q	POLI_ENST00000217800.5_Silent_p.Q540Q|POLI_ENST00000579434.1_Silent_p.Q563Q|POLI_ENST00000406285.3_Silent_p.Q587Q	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	666					DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)	intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		AGAGTGAGCAACTTTTCTCCA	0.403								DNA polymerases (catalytic subunits)					A|||	5	0.000998403	0.0	0.0	5008	,	,		18022	0.005		0.0	False		,,,				2504	0.0					ENST00000579534.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26						c.(1996-1998)caA>caG	DNA polymerases (catalytic subunits)	polymerase (DNA directed) iota							67.0	67.0	67.0					18																	51820612		2203	4300	6503	SO:0001819	synonymous_variant	11201				DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding	g.chr18:51820612A>G		CCDS11954.2	18q21.1	2012-05-18			ENSG00000101751	ENSG00000101751		"""DNA polymerases"""	9182	protein-coding gene	gene with protein product		605252		RAD3OB, RAD30B		17609217	Standard	NM_007195		Approved		uc002lfj.4	Q9UNA4	OTTHUMG00000132704	ENST00000579534.1:c.1998A>G	18.37:g.51820612A>G						POLI_ENST00000217800.5_Silent_p.Q540Q|POLI_ENST00000579434.1_Silent_p.Q563Q|POLI_ENST00000406285.3_Silent_p.Q587Q	p.Q666Q	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN		Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)	10	2141	+			666					Q8N590|Q9H0S1|Q9NYH6	Silent	SNP	ENST00000579534.1	37	c.1998A>G	CCDS11954.2																																																																																				0.403	POLI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256002.3	NM_007195		23	40	0	0	0	1	0	23	40				
BTG3	10950	broad.mit.edu	37	21	18977201	18977201	+	Silent	SNP	C	C	A			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr21:18977201C>A	ENST00000348354.6	-	3	544	c.288G>T	c.(286-288)gtG>gtT	p.V96V	BTG3_ENST00000339775.6_Silent_p.V96V	NM_006806.4	NP_006797.3	Q14201	BTG3_HUMAN	BTG family, member 3	96					negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)	cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	8				Epithelial(23;0.000283)|all cancers(11;0.0012)|Lung(58;0.0191)|OV - Ovarian serous cystadenocarcinoma(11;0.0206)|COAD - Colon adenocarcinoma(22;0.0315)|LUSC - Lung squamous cell carcinoma(23;0.0703)|Colorectal(24;0.0971)		CACATGGGTCCACCCAGAGAG	0.468																																						ENST00000339775.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	8						c.(286-288)gtG>gtT		BTG family, member 3							101.0	90.0	94.0					21																	18977201		2203	4300	6503	SO:0001819	synonymous_variant	10950				negative regulation of cell proliferation|negative regulation of mitotic cell cycle	cytoplasm		g.chr21:18977201C>A	D64110	CCDS13569.1, CCDS46636.1	21q21.1	2006-12-16			ENSG00000154640	ENSG00000154640			1132	protein-coding gene	gene with protein product		605674				9632145	Standard	NM_006806		Approved	ANA, tob55	uc002ykk.3	Q14201	OTTHUMG00000074501	ENST00000348354.6:c.288G>T	21.37:g.18977201C>A						BTG3_ENST00000348354.6_Silent_p.V96V	p.V96V	NM_001130914.1	NP_001124386.1	Q14201	BTG3_HUMAN		Epithelial(23;0.000283)|all cancers(11;0.0012)|Lung(58;0.0191)|OV - Ovarian serous cystadenocarcinoma(11;0.0206)|COAD - Colon adenocarcinoma(22;0.0315)|LUSC - Lung squamous cell carcinoma(23;0.0703)|Colorectal(24;0.0971)	3	441	-			96					D3DSC4|Q53XV1|Q96ET7	Silent	SNP	ENST00000348354.6	37	c.288G>T	CCDS13569.1																																																																																				0.468	BTG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158196.1	NM_006806		3	55	1	0	1	1	1	3	55				
LILRB2	10288	broad.mit.edu	37	19	54783387	54783387	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr19:54783387C>A	ENST00000391749.4	-	5	742	c.471G>T	c.(469-471)aaG>aaT	p.K157N	LILRB2_ENST00000391746.1_Missense_Mutation_p.K157N|LILRB2_ENST00000471216.1_5'Flank|LILRB2_ENST00000434421.1_Missense_Mutation_p.K41N|LILRB2_ENST00000314446.5_Missense_Mutation_p.K157N|LILRB2_ENST00000391748.1_Missense_Mutation_p.K157N|MIR4752_ENST00000579672.1_RNA	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	157	Ig-like C2-type 2.				cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CTTCTCCTTCCTTACACAGAA	0.622																																						ENST00000391748.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44						c.(469-471)aaG>aaT		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2							112.0	108.0	110.0					19																	54783387		2203	4300	6503	SO:0001583	missense	10288				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	g.chr19:54783387C>A	AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.471G>T	19.37:g.54783387C>A	ENSP00000375629:p.Lys157Asn					LILRB2_ENST00000391746.1_Missense_Mutation_p.K157N|LILRB2_ENST00000434421.1_Missense_Mutation_p.K41N|LILRB2_ENST00000391749.4_Missense_Mutation_p.K157N|LILRB2_ENST00000314446.5_Missense_Mutation_p.K157N	p.K157N	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	5	598	-	Ovarian(34;0.19)		157			Ig-like C2-type 2.		A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Missense_Mutation	SNP	ENST00000391749.4	37	c.471G>T	CCDS12886.1	.	.	.	.	.	.	.	.	.	.	C	13.26	2.182748	0.38511	.	.	ENSG00000131042	ENST00000391748;ENST00000314446;ENST00000391749;ENST00000391746;ENST00000434421	T;T;T;T;T	0.01084	5.36;5.36;5.36;5.36;5.36	2.41	-2.24	0.06909	Immunoglobulin-like fold (1);	0.973573	0.08404	N	0.951022	T	0.08179	0.0204	H	0.96111	3.77	0.09310	N	1	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.77557	0.976;0.99;0.975	T	0.11470	-1.0586	10	0.72032	D	0.01	.	2.768	0.05325	0.2169:0.4924:0.0:0.2907	.	157;174;157	A8MU67;E7EVY1;Q8N423	.;.;LIRB2_HUMAN	N	157;157;157;157;41	ENSP00000375628:K157N;ENSP00000319960:K157N;ENSP00000375629:K157N;ENSP00000375626:K157N;ENSP00000410117:K41N	ENSP00000319960:K157N	K	-	3	2	LILRB2	59475199	0.001000	0.12720	0.002000	0.10522	0.056000	0.15407	-0.088000	0.11198	-0.476000	0.06842	0.289000	0.19496	AAG		0.622	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1			21	124	1	0	1.50039e-11	1	2.01481e-11	21	124				
CACNA1B	774	broad.mit.edu	37	9	140809200	140809200	+	Silent	SNP	C	C	A			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr9:140809200C>A	ENST00000371372.1	+	5	862	c.717C>A	c.(715-717)atC>atA	p.I239I	CACNA1B_ENST00000371363.1_Silent_p.I239I|CACNA1B_ENST00000277551.2_Silent_p.I239I|CACNA1B_ENST00000371355.4_Silent_p.I239I|CACNA1B_ENST00000371357.1_Silent_p.I239I|CACNA1B_ENST00000277549.5_5'UTR	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	239					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)	p.I239I(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	TGTTTGCCATCATTGGCCTGG	0.567																																						ENST00000371372.1																			1	Substitution - coding silent(1)	p.I239I(1)	lung(1)	NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80						c.(715-717)atC>atA		calcium channel, voltage-dependent, N type, alpha 1B subunit	Amlodipine(DB00381)|Gabapentin(DB00996)						115.0	113.0	113.0					9																	140809200		2132	4252	6384	SO:0001819	synonymous_variant	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:140809200C>A	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.717C>A	9.37:g.140809200C>A						CACNA1B_ENST00000371355.4_Silent_p.I239I|CACNA1B_ENST00000371363.1_Silent_p.I239I|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000277551.2_Silent_p.I239I|CACNA1B_ENST00000371357.1_Silent_p.I239I	p.I239I	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	5	862	+	all_cancers(76;0.166)		239					B1AQK5	Silent	SNP	ENST00000371372.1	37	c.717C>A	CCDS59522.1																																																																																				0.567	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		6	23	1	0	0.0215528	1	0.0247068	6	23				
FBN3	84467	broad.mit.edu	37	19	8188389	8188389	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr19:8188389G>T	ENST00000600128.1	-	24	3455	c.3041C>A	c.(3040-3042)gCg>gAg	p.A1014E	FBN3_ENST00000270509.2_Missense_Mutation_p.A1014E|FBN3_ENST00000601739.1_Missense_Mutation_p.A1014E			Q75N90	FBN3_HUMAN	fibrillin 3	1014	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GAAGCCCCCCGCACAGGCGCA	0.612																																						ENST00000600128.1																			0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(3040-3042)gCg>gAg		fibrillin 3							57.0	56.0	56.0					19																	8188389		2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8188389G>T		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.3041C>A	19.37:g.8188389G>T	ENSP00000470498:p.Ala1014Glu					FBN3_ENST00000601739.1_Missense_Mutation_p.A1014E|FBN3_ENST00000270509.2_Missense_Mutation_p.A1014E	p.A1014E			Q75N90	FBN3_HUMAN			24	3455	-			1014			EGF-like 12; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.3041C>A	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	g	3.829	-0.036103	0.07497	.	.	ENSG00000142449	ENST00000270509	D	0.91577	-2.87	3.48	0.692	0.18050	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.551331	0.18436	U	0.141278	T	0.71476	0.3344	N	0.03999	-0.3	0.19575	N	0.999968	B	0.30526	0.283	B	0.33690	0.168	T	0.64394	-0.6418	10	0.06625	T	0.88	.	2.3769	0.04344	0.1283:0.3474:0.3854:0.1389	.	1014	Q75N90	FBN3_HUMAN	E	1014	ENSP00000270509:A1014E	ENSP00000270509:A1014E	A	-	2	0	FBN3	8094389	0.000000	0.05858	0.088000	0.20740	0.048000	0.14542	0.693000	0.25497	0.591000	0.29711	-0.336000	0.08194	GCG		0.612	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		3	42	1	0	0.115264	1	0.123123	3	42				
TBCD	6904	broad.mit.edu	37	17	80772758	80772758	+	Silent	SNP	G	G	A			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr17:80772758G>A	ENST00000355528.4	+	13	1396	c.1266G>A	c.(1264-1266)gcG>gcA	p.A422A	TBCD_ENST00000397466.2_Silent_p.A36A|TBCD_ENST00000539345.2_Silent_p.A422A	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	422					'de novo' posttranslational protein folding (GO:0051084)|adherens junction assembly (GO:0034333)|cellular protein metabolic process (GO:0044267)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of GTPase activity (GO:0043547)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|tight junction (GO:0005923)	beta-tubulin binding (GO:0048487)|chaperone binding (GO:0051087)|GTPase activator activity (GO:0005096)					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			GATGTCTGGCGCTGGCAGAGC	0.612																																						ENST00000355528.4																			0											c.(1264-1266)gcG>gcA		tubulin folding cofactor D							66.0	72.0	70.0					17																	80772758		2161	4267	6428	SO:0001819	synonymous_variant	6904				'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity	g.chr17:80772758G>A	BC003094	CCDS45818.1	17q25.3	2006-11-21	2006-11-21			ENSG00000141556			11581	protein-coding gene	gene with protein product		604649	"""tubulin-specific chaperone d"""				Standard	NM_005993		Approved		uc002kfz.3	Q9BTW9		ENST00000355528.4:c.1266G>A	17.37:g.80772758G>A						TBCD_ENST00000539345.2_Silent_p.A422A|TBCD_ENST00000397466.2_Silent_p.A36A	p.A422A	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)		13	1396	+	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	422					O95458|Q7L8K1|Q8IXP6|Q8NAX0|Q8WYH4|Q96E74|Q9UF82|Q9UG46|Q9Y2J3	Silent	SNP	ENST00000355528.4	37	c.1266G>A	CCDS45818.1																																																																																				0.612	TBCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439415.1	NM_005993		10	23	0	0	0	1	0	10	23				
FCRLB	127943	broad.mit.edu	37	1	161695855	161695855	+	Silent	SNP	T	T	C			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr1:161695855T>C	ENST00000367948.2	+	6	767	c.552T>C	c.(550-552)gcT>gcC	p.A184A	FCRLB_ENST00000367945.1_Silent_p.A177A|FCRLB_ENST00000495397.1_3'UTR|FCRLB_ENST00000367946.3_Silent_p.A184A|FCRLB_ENST00000392158.1_Silent_p.A184A|FCRLB_ENST00000367944.3_Silent_p.A177A|FCRLB_ENST00000336830.5_Silent_p.A184A			Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	184	Ig-like C2-type 2.				negative regulation of immune response (GO:0050777)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			TGTTCTCCGCTAAGGTGGCTG	0.622											OREG0013944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000367948.2																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17						c.(550-552)gcT>gcC		Fc receptor-like B							34.0	37.0	36.0					1																	161695855		2203	4300	6503	SO:0001819	synonymous_variant	127943					endoplasmic reticulum		g.chr1:161695855T>C	AY670683	CCDS30927.1, CCDS72962.1, CCDS72963.1, CCDS72964.1, CCDS72965.1	1q23.3	2013-01-11	2006-09-26	2006-09-26	ENSG00000162746	ENSG00000162746		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26431	protein-coding gene	gene with protein product		609251	"""Fc receptor-like and mucin-like 2"""	FCRLM2		15676285	Standard	NM_001288829		Approved	FLJ31052, FCRL2, FREB-2, FCRLY	uc001gbi.3	Q6BAA4	OTTHUMG00000133629	ENST00000367948.2:c.552T>C	1.37:g.161695855T>C			OREG0013944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1818	FCRLB_ENST00000495397.1_3'UTR|FCRLB_ENST00000392158.1_Silent_p.A184A|FCRLB_ENST00000336830.5_Silent_p.A184A|FCRLB_ENST00000367944.3_Silent_p.A177A|FCRLB_ENST00000367945.1_Silent_p.A177A|FCRLB_ENST00000367946.3_Silent_p.A184A	p.A184A			Q6BAA4	FCRLB_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00634)		6	767	+	all_hematologic(112;0.0359)		184			Ig-like C2-type 2.		A2A3J5|A2A3J7|Q5VXA6|Q6BAA0|Q6BAA1|Q6BAA2|Q6BAA3|Q8IXZ7	Silent	SNP	ENST00000367948.2	37	c.552T>C	CCDS30927.1																																																																																				0.622	FCRLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083585.1	NM_152378		5	47	0	0	0	1	0	5	47				
MST1R	4486	broad.mit.edu	37	3	49924839	49924839	+	Silent	SNP	C	C	G	rs371877454		TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr3:49924839C>G	ENST00000296474.3	-	20	4131	c.4104G>C	c.(4102-4104)tcG>tcC	p.S1368S	MST1R_ENST00000344206.4_Silent_p.S1319S	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1368					cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		TCATCTCATGCGAGGTGCTGG	0.597																																						ENST00000296474.3																			0				cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37						c.(4102-4104)tcG>tcC		macrophage stimulating 1 receptor (c-met-related tyrosine kinase)							129.0	116.0	120.0					3																	49924839		2203	4300	6503	SO:0001819	synonymous_variant	4486				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding	g.chr3:49924839C>G	X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"""CD molecules"""	7381	protein-coding gene	gene with protein product		600168	"""PTK8 protein tyrosine kinase 8"""	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.4104G>C	3.37:g.49924839C>G						MST1R_ENST00000344206.4_Silent_p.S1319S	p.S1368S	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)	20	4131	-			1368					B5A944|B5A945|B5A946|B5A947	Silent	SNP	ENST00000296474.3	37	c.4104G>C	CCDS2807.1																																																																																				0.597	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1			10	181	0	0	0	1	0	10	181				
PLCZ1	89869	broad.mit.edu	37	12	18858244	18858244	+	Silent	SNP	A	A	T			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr12:18858244A>T	ENST00000266505.7	-	7	983	c.720T>A	c.(718-720)tcT>tcA	p.S240S	PLCZ1_ENST00000541695.1_Silent_p.S103S|PLCZ1_ENST00000538330.1_Intron|PLCZ1_ENST00000539875.1_Silent_p.S47S|PLCZ1_ENST00000542762.1_5'UTR|PLCZ1_ENST00000435379.1_Silent_p.S45S|PLCZ1_ENST00000447925.2_Silent_p.S238S					phospholipase C, zeta 1											NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					CTGGGTAGTCAGATGTCTAAA	0.343																																						ENST00000266505.7																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31						c.(718-720)tcT>tcA		phospholipase C, zeta 1							96.0	96.0	96.0					12																	18858244		2203	4300	6503	SO:0001819	synonymous_variant	89869				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr12:18858244A>T	AY035866	CCDS8680.1	12p13.31	2013-01-10			ENSG00000139151	ENSG00000139151	3.1.4.11	"""EF-hand domain containing"""	19218	protein-coding gene	gene with protein product		608075				12117804	Standard	NM_033123		Approved	NYD-SP27, PLCzeta	uc021qvx.2	Q86YW0	OTTHUMG00000168937	ENST00000266505.7:c.720T>A	12.37:g.18858244A>T						PLCZ1_ENST00000538330.1_Intron|PLCZ1_ENST00000435379.1_Silent_p.S45S|PLCZ1_ENST00000542762.1_5'UTR|PLCZ1_ENST00000447925.2_Silent_p.S238S|PLCZ1_ENST00000541695.1_Silent_p.S103S|PLCZ1_ENST00000539875.1_Silent_p.S47S	p.S240S			Q86YW0	PLCZ1_HUMAN			7	983	-	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)		240			PI-PLC X-box.			Silent	SNP	ENST00000266505.7	37	c.720T>A	CCDS8680.1																																																																																				0.343	PLCZ1-001	KNOWN	NAGNAG_splice_site|non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401667.3	NM_033123		18	245	0	0	0	1	0	18	245				
NIN	51199	broad.mit.edu	37	14	51237587	51237587	+	Silent	SNP	C	C	A			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr14:51237587C>A	ENST00000382041.3	-	11	1432	c.1242G>T	c.(1240-1242)cgG>cgT	p.R414R	NIN_ENST00000453196.1_Silent_p.R414R|NIN_ENST00000389868.3_Silent_p.R414R|NIN_ENST00000324330.9_Silent_p.R414R|NIN_ENST00000245441.5_Silent_p.R414R|NIN_ENST00000382043.4_Silent_p.R414R|NIN_ENST00000530997.2_Silent_p.R414R	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	414					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TGTACTCATTCCGCCGCTCTA	0.592			T	PDGFRB	MPD																																	ENST00000245441.5				Dom	yes		14	14q24	51199	T	ninein (GSK3B interacting protein)			L	PDGFRB		MPD		0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71						c.(1240-1242)cgG>cgT		ninein (GSK3B interacting protein)							69.0	58.0	62.0					14																	51237587		2203	4300	6503	SO:0001819	synonymous_variant	51199				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	g.chr14:51237587C>A	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.1242G>T	14.37:g.51237587C>A						NIN_ENST00000324330.9_Silent_p.R414R|NIN_ENST00000382043.4_Silent_p.R414R|NIN_ENST00000389868.3_Silent_p.R414R|NIN_ENST00000382041.3_Silent_p.R414R|NIN_ENST00000453196.1_Silent_p.R414R|NIN_ENST00000530997.2_Silent_p.R414R	p.R414R	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN			11	1432	-	all_epithelial(31;0.00244)|Breast(41;0.127)		414					A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Silent	SNP	ENST00000382041.3	37	c.1242G>T	CCDS32079.1																																																																																				0.592	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946		8	39	1	0	1.06961e-07	1	1.34334e-07	8	39				
ABCA1	19	broad.mit.edu	37	9	107581907	107581907	+	Silent	SNP	G	G	A			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr9:107581907G>A	ENST00000374736.3	-	22	3595	c.3201C>T	c.(3199-3201)tcC>tcT	p.S1067S		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1067	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	TTCCCCTGCGGGAGTAAGGGT	0.512																																						ENST00000374736.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115						c.(3199-3201)tcC>tcT		ATP-binding cassette, sub-family A (ABC1), member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						111.0	115.0	113.0					9																	107581907		2203	4300	6503	SO:0001819	synonymous_variant	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107581907G>A	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.3201C>T	9.37:g.107581907G>A							p.S1067S	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	22	3595	-			1067			ABC transporter 1.		Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Silent	SNP	ENST00000374736.3	37	c.3201C>T	CCDS6762.1																																																																																				0.512	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		5	124	0	0	0	1	0	5	124				
TSHZ1	10194	broad.mit.edu	37	18	72999255	72999255	+	Silent	SNP	G	G	A	rs145239521		TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr18:72999255G>A	ENST00000580243.1	+	2	2241	c.1893G>A	c.(1891-1893)ccG>ccA	p.P631P	TSHZ1_ENST00000322038.5_Silent_p.P586P			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	631					anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		CGCCCCCACCGCACAAGAGCA	0.632																																						ENST00000322038.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42						c.(1756-1758)ccG>ccA		teashirt zinc finger homeobox 1		G		1,4401	2.1+/-5.4	0,1,2200	62.0	52.0	56.0		1758	-4.8	1.0	18	dbSNP_134	56	0,8590		0,0,4295	no	coding-synonymous	TSHZ1	NM_005786.4		0,1,6495	AA,AG,GG		0.0,0.0227,0.0077		586/1033	72999255	1,12991	2201	4295	6496	SO:0001819	synonymous_variant	10194					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:72999255G>A	AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	10669	protein-coding gene	gene with protein product		614427	"""serologically defined colon cancer antigen 33"", ""teashirt zinc finger 1"", ""teashirt family zinc finger 1"""	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.1893G>A	18.37:g.72999255G>A						TSHZ1_ENST00000580243.1_Silent_p.P631P	p.P586P	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)	2	2342	+		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)	631					O60534|Q4LE29|Q53EU4	Silent	SNP	ENST00000580243.1	37	c.1758G>A																																																																																					0.632	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1	NM_005786		3	49	0	0	0	1	0	3	49				
CYP1B1	1545	broad.mit.edu	37	2	38297920	38297920	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr2:38297920A>G	ENST00000260630.3	-	3	1978	c.1577T>C	c.(1576-1578)aTg>aCg	p.M526T	CYP1B1_ENST00000407341.1_Missense_Mutation_p.M526T|CYP1B1_ENST00000494864.1_5'UTR	NM_000104.3	NP_000095	Q16678	CP1B1_HUMAN	cytochrome P450, family 1, subfamily B, polypeptide 1	526					angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|blood vessel morphogenesis (GO:0048514)|cell adhesion (GO:0007155)|cellular aromatic compound metabolic process (GO:0006725)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to organic cyclic compound (GO:0071407)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell-cell adhesion (GO:0071603)|epoxygenase P450 pathway (GO:0019373)|estrogen metabolic process (GO:0008210)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|membrane lipid catabolic process (GO:0046466)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nitric oxide biosynthetic process (GO:0006809)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to toxic substance (GO:0009636)|retinal blood vessel morphogenesis (GO:0061304)|retinal metabolic process (GO:0042574)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|toxin metabolic process (GO:0009404)|trabecular meshwork development (GO:0002930)|visual perception (GO:0007601)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13		all_hematologic(82;0.21)			Amodiaquine(DB00613)|Arsenic trioxide(DB01169)|Biotin(DB00121)|Caffeine(DB00201)|Clozapine(DB00363)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Flutamide(DB00499)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Melatonin(DB01065)|Mitoxantrone(DB01204)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Primaquine(DB01087)|Procarbazine(DB01168)|Progesterone(DB00396)|Propofol(DB00818)|Tamoxifen(DB00675)|Testosterone(DB00624)|Theophylline(DB00277)	AAGGAGCTCCATGGACTCTCT	0.403																																						ENST00000260630.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13						c.(1576-1578)aTg>aCg		cytochrome P450, family 1, subfamily B, polypeptide 1	Estrone(DB00655)						100.0	103.0	102.0					2																	38297920		2203	4300	6503	SO:0001583	missense	1545				visual perception|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding	g.chr2:38297920A>G	U56438	CCDS1793.1	2p22.2	2008-02-05	2003-01-14		ENSG00000138061	ENSG00000138061		"""Cytochrome P450s"""	2597	protein-coding gene	gene with protein product		601771	"""cytochrome P450, subfamily I (dioxin-inducible), polypeptide 1 (glaucoma 3, primary infantile)"""	GLC3A		8175734, 15128046	Standard	NM_000104		Approved	CP1B	uc002rqo.2	Q16678	OTTHUMG00000100970	ENST00000260630.3:c.1577T>C	2.37:g.38297920A>G	ENSP00000260630:p.Met526Thr					CYP1B1_ENST00000407341.1_Missense_Mutation_p.M526T|CYP1B1_ENST00000494864.1_5'UTR	p.M526T	NM_000104.3	NP_000095.2	Q16678	CP1B1_HUMAN			3	1978	-		all_hematologic(82;0.21)	526					Q5TZW8|Q93089|Q9H316	Missense_Mutation	SNP	ENST00000260630.3	37	c.1577T>C	CCDS1793.1	.	.	.	.	.	.	.	.	.	.	A	9.487	1.099557	0.20552	.	.	ENSG00000138061	ENST00000260630;ENST00000407341	T;T	0.69806	-0.43;-0.43	5.84	5.84	0.93424	.	0.221574	0.53938	D	0.000053	T	0.52869	0.1761	L	0.38838	1.175	0.29887	N	0.825499	B	0.17667	0.023	B	0.17979	0.02	T	0.44421	-0.9329	10	0.02654	T	1	.	14.1689	0.65495	1.0:0.0:0.0:0.0	.	526	Q53TK1	.	T	526	ENSP00000260630:M526T;ENSP00000384972:M526T	ENSP00000260630:M526T	M	-	2	0	CYP1B1	38151424	0.998000	0.40836	1.000000	0.80357	0.947000	0.59692	3.928000	0.56506	2.223000	0.72356	0.533000	0.62120	ATG		0.403	CYP1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218580.3	NM_000104		7	119	0	0	0	1	0	7	119				
ATP1A1	476	broad.mit.edu	37	1	116939279	116939281	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr1:116939279_116939281delCAT	ENST00000295598.5	+	14	2148_2150	c.1896_1898delCAT	c.(1894-1899)ggcatc>ggc	p.I634del	ATP1A1_ENST00000369496.4_In_Frame_Del_p.I603del|ATP1A1_ENST00000537345.1_In_Frame_Del_p.I634del	NM_000701.7	NP_000692.2	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	634					ATP biosynthetic process (GO:0006754)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|membrane hyperpolarization (GO:0060081)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of glucocorticoid biosynthetic process (GO:0031947)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart contraction (GO:0045823)|positive regulation of striated muscle contraction (GO:0045989)|potassium ion import (GO:0010107)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of sodium ion transport (GO:0002028)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|chaperone binding (GO:0051087)|phosphatase activity (GO:0016791)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Ciclopirox(DB01188)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Ethacrynic acid(DB00903)|Hydroflumethiazide(DB00774)|Ouabain(DB01092)|Trichlormethiazide(DB01021)	AAGGTGTGGGCATCATCTCAGAA	0.493																																						ENST00000537345.1																			0				NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						c.(1894-1899)ggc>gg		ATPase, Na+/K+ transporting, alpha 1 polypeptide	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)																																			SO:0001651	inframe_deletion	476				ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity	g.chr1:116939279_116939281delCAT	D00099	CCDS887.1, CCDS53351.1, CCDS53352.1	1p13	2012-10-22			ENSG00000163399	ENSG00000163399	3.6.3.9	"""ATPases / P-type"""	799	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-1"", ""sodium pump subunit alpha-1"", ""sodium-potassium ATPase catalytic subunit alpha-1"""	182310					Standard	NM_000701		Approved		uc001ege.3	P05023	OTTHUMG00000012109	ENST00000295598.5:c.1896_1898delCAT	1.37:g.116939282_116939284delCAT	ENSP00000295598:p.Ile634del					ATP1A1_ENST00000295598.5_In_Frame_Del_p.GI632del|ATP1A1_ENST00000369496.4_In_Frame_Del_p.GI601del	p.GI632del	NM_001160233.1	NP_001153705.1	P05023	AT1A1_HUMAN		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	14	2259_2261	+	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)	632					B2RBR6|B7Z2T5|B7Z3U6|F5H3A1|Q16689|Q6LDM4|Q9UCN1|Q9UJ20|Q9UJ21	In_Frame_Del	DEL	ENST00000295598.5	37	c.1896_1898delCAT	CCDS887.1																																																																																				0.493	ATP1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033481.5	NM_001160233		15	81						15	81	---	---	---	---
DTX3L	151636	broad.mit.edu	37	3	122289368	122289371	+	Frame_Shift_Del	DEL	AAGG	AAGG	-	rs9868175|rs181955910	byFrequency	TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr3:122289368_122289371delAAGG	ENST00000296161.4	+	4	2191_2194	c.2002_2005delAAGG	c.(2002-2007)aaggaafs	p.KE668fs	DTX3L_ENST00000383661.3_Frame_Shift_Del_p.KE156fs	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3 like, E3 ubiquitin ligase	668			K -> M (in dbSNP:rs9868175).		cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone monoubiquitination (GO:0010390)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		GCCTGATAATAAGGAAGGAAGGAA	0.426																																						ENST00000296161.4																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(2002-2007)aafs		deltex 3-like (Drosophila)																																				SO:0001589	frameshift_variant	151636				histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:122289368_122289371delAAGG		CCDS3015.1	3q21.1	2014-01-28	2014-01-28		ENSG00000163840	ENSG00000163840		"""RING-type (C3HC4) zinc fingers"""	30323	protein-coding gene	gene with protein product	"""rhysin 2"""	613143	"""deltex 3-like (Drosophila)"""			12670957, 22411408	Standard	NM_138287		Approved	BBAP	uc003efk.3	Q8TDB6	OTTHUMG00000159524	ENST00000296161.4:c.2002_2005delAAGG	3.37:g.122289376_122289379delAAGG	ENSP00000296161:p.Lys668fs					DTX3L_ENST00000383661.3_Frame_Shift_Del_p.KE156fs	p.KE668fs	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN		GBM - Glioblastoma multiforme(114;0.0459)	4	2191_2194	+			668		K -> M (in dbSNP:rs9868175).			B3KWH6|Q53ZZ3|Q5MJP7	Frame_Shift_Del	DEL	ENST00000296161.4	37	c.2002_2005delAAGG	CCDS3015.1																																																																																				0.426	DTX3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355966.1	NM_138287		10	148						10	148	---	---	---	---
RP11-703G6.1	0	broad.mit.edu	37	4	104890339	104890340	+	lincRNA	INS	-	-	TC			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr4:104890339_104890340insTC	ENST00000510505.1	+	0	63																											ccttcctttcttttctttcttt	0.356																																						ENST00000510505.1																			0																																																			0							g.chr4:104890339_104890340insTC																													4.37:g.104890339_104890340insTC														0	63	+									RNA	INS	ENST00000510505.1	37																																																																																						0.356	RP11-703G6.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000365989.1			4	2						4	2	---	---	---	---
DOPEY1	23033	broad.mit.edu	37	6	83845475	83845475	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr6:83845475delA	ENST00000349129.2	+	20	3268	c.3008delA	c.(3007-3009)catfs	p.H1003fs	DOPEY1_ENST00000369739.3_Frame_Shift_Del_p.H994fs|DOPEY1_ENST00000237163.5_Frame_Shift_Del_p.H984fs	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1003					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		CTCCTGCTTCATCCAAAAACT	0.453																																						ENST00000349129.2																			0				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67						c.(3007-3009)ctfs		dopey family member 1							164.0	147.0	152.0					6																	83845475		2203	4299	6502	SO:0001589	frameshift_variant	23033				protein transport			g.chr6:83845475delA	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.3008delA	6.37:g.83845475delA	ENSP00000195654:p.His1003fs					DOPEY1_ENST00000369739.3_Frame_Shift_Del_p.H994fs|DOPEY1_ENST00000237163.5_Frame_Shift_Del_p.H984fs	p.H1003fs	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	20	3268	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	1003					Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Frame_Shift_Del	DEL	ENST00000349129.2	37	c.3008delA	CCDS4996.1																																																																																				0.453	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		47	142						47	142	---	---	---	---
RP11-420N3.2	0	broad.mit.edu	37	16	5792292	5792299	+	RNA	DEL	CCTGCCTC	CCTGCCTC	-	rs141934433		TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr16:5792292_5792299delCCTGCCTC	ENST00000569895.1	+	0	403																											tccctcccttcctgcctccctcccttcc	0.558																																						ENST00000569895.1																			0																																																			0							g.chr16:5792292_5792299delCCTGCCTC																													16.37:g.5792292_5792299delCCTGCCTC														0	403	+									RNA	DEL	ENST00000569895.1	37																																																																																						0.558	RP11-420N3.2-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000435404.2			2	4						2	4	---	---	---	---
PLCG2	5336	broad.mit.edu	37	16	81944242	81944242	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr16:81944242delC	ENST00000359376.3	+	18	2065	c.1851delC	c.(1849-1851)tacfs	p.Y617fs		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	617	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TCCAGCACTACCGCGAGACGC	0.627																																						ENST00000359376.3																			0				NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						c.(1849-1851)tafs		phospholipase C, gamma 2 (phosphatidylinositol-specific)							168.0	184.0	179.0					16																	81944242		2159	4267	6426	SO:0001589	frameshift_variant	5336				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr16:81944242delC		CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"""SH2 domain containing"""	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.1851delC	16.37:g.81944242delC	ENSP00000352336:p.Tyr617fs						p.Y617fs	NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN			18	2065	+			617			SH2 1.		D3DUL3|Q3ZTS2|Q59H45|Q969T5	Frame_Shift_Del	DEL	ENST00000359376.3	37	c.1851delC	CCDS42204.1																																																																																				0.627	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1			21	397						21	397	---	---	---	---
CHD6	84181	broad.mit.edu	37	20	40080534	40080535	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr20:40080534_40080535delTT	ENST00000373233.3	-	22	3631_3632	c.3454_3455delAA	c.(3454-3456)aagfs	p.K1152fs	CHD6_ENST00000309279.7_Frame_Shift_Del_p.K635fs	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1152					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				AATGAAACTCTTGATCTTCTCG	0.52																																						ENST00000373233.3																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129						c.(3454-3456)gfs		chromodomain helicase DNA binding protein 6																																				SO:0001589	frameshift_variant	84181				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40080534_40080535delTT	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.3454_3455delAA	20.37:g.40080534_40080535delTT	ENSP00000362330:p.Lys1152fs					CHD6_ENST00000309279.7_Frame_Shift_Del_p.K635fs	p.K1152fs	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN			22	3631_3632	-		Myeloproliferative disorder(115;0.00425)	1152					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Frame_Shift_Del	DEL	ENST00000373233.3	37	c.3454_3455delAA	CCDS13317.1																																																																																				0.520	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			53	247						53	247	---	---	---	---
