#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
AGAP11	119385	broad.mit.edu	37	10	88769021	88769021	+	RNA	SNP	C	C	T			TCGA-CV-A45T-01A-11D-A24D-08	TCGA-CV-A45T-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09a3a7a-cd0a-444e-b8f3-c99c43e5a998	9b899cf9-fd99-410a-9f1b-aa2a80135740	g.chr10:88769021C>T	ENST00000444431.1	+	0	3621				RP11-96C23.10_ENST00000451760.1_RNA|RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)										CCAAAACATGCGTGGGAACTC	0.552																																						ENST00000444431.1																			0													ankyrin repeat and GTPase domain Arf GTPase activating protein 11							143.0	154.0	150.0					10																	88769021		2203	4300	6503			119385				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:88769021C>T			10q23.2	2013-01-11			ENSG00000151303	ENSG00000151303		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	29421	protein-coding gene	gene with protein product						11853319	Standard	NM_133447		Approved	KIAA1975	uc001kee.2	Q8TF27	OTTHUMG00000018667		10.37:g.88769021C>T						RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA				Q8TF27	AGA11_HUMAN			0	3621	+								B9EIP7|D3DWE4	RNA	SNP	ENST00000444431.1	37																																																																																						0.552	AGAP11-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000049193.1	NM_133447		13	152	0	0	0	1	0	13	152				
ATP8B3	148229	broad.mit.edu	37	19	1811703	1811703	+	Silent	SNP	G	G	A			TCGA-CV-A45T-01A-11D-A24D-08	TCGA-CV-A45T-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09a3a7a-cd0a-444e-b8f3-c99c43e5a998	9b899cf9-fd99-410a-9f1b-aa2a80135740	g.chr19:1811703G>A	ENST00000310127.6	-	2	271	c.33C>T	c.(31-33)agC>agT	p.S11S	ATP8B3_ENST00000526092.2_Intron|ATP8B3_ENST00000525591.1_Intron|ATP8B3_ENST00000539485.1_Silent_p.S11S	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	11					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGCTCTGGTGCTCCTGGGAG	0.657																																						ENST00000539485.1																			0				central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23						c.(31-33)agC>agT		ATPase, aminophospholipid transporter, class I, type 8B, member 3							28.0	32.0	31.0					19																	1811703		2006	4149	6155	SO:0001819	synonymous_variant	148229				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr19:1811703G>A	AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"""ATPases / P-type"""	13535	protein-coding gene	gene with protein product	"""aminophospholipid translocase ATP8B3"", ""potential phospholipid-transporting ATPase IK"""	605866	"""ATPase, Class I, type 8B, member 3"", ""ATPase, class I, type 8B, member 3"""			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.33C>T	19.37:g.1811703G>A						ATP8B3_ENST00000526092.1_Intron|ATP8B3_ENST00000525591.1_Intron|ATP8B3_ENST00000310127.6_Silent_p.S11S	p.S11S			O60423	AT8B3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	266	-		Hepatocellular(1079;0.137)	11					Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Silent	SNP	ENST00000310127.6	37	c.33C>T	CCDS45901.1																																																																																				0.657	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1	NM_138813		3	15	0	0	0	1	0	3	15				
RP11-252A24.2	0	broad.mit.edu	37	16	74372357	74372357	+	RNA	SNP	C	C	T	rs112549981		TCGA-CV-A45T-01A-11D-A24D-08	TCGA-CV-A45T-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09a3a7a-cd0a-444e-b8f3-c99c43e5a998	9b899cf9-fd99-410a-9f1b-aa2a80135740	g.chr16:74372357C>T	ENST00000429810.2	-	0	1839																											ATCTCAAACTCTGTGAAAGAG	0.368																																						ENST00000429810.2																			0																																																			0							g.chr16:74372357C>T																													16.37:g.74372357C>T														0	1839	-									RNA	SNP	ENST00000429810.2	37																																																																																						0.368	RP11-252A24.2-003	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000434683.1			3	29	0	0	0	1	0	3	29				
APOL4	80832	broad.mit.edu	37	22	36591424	36591424	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45T-01A-11D-A24D-08	TCGA-CV-A45T-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09a3a7a-cd0a-444e-b8f3-c99c43e5a998	9b899cf9-fd99-410a-9f1b-aa2a80135740	g.chr22:36591424G>A	ENST00000405511.1	-	5	564	c.142C>T	c.(142-144)Cat>Tat	p.H48Y	APOL4_ENST00000429038.2_Missense_Mutation_p.H48Y|APOL4_ENST00000332987.1_Missense_Mutation_p.H48Y|APOL4_ENST00000479929.1_5'UTR|APOL4_ENST00000352371.1_Missense_Mutation_p.H51Y|APOL4_ENST00000404685.3_Missense_Mutation_p.H51Y	NM_030643.3	NP_085146.2	Q9BPW4	APOL4_HUMAN	apolipoprotein L, 4	51					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	extracellular space (GO:0005615)	lipid binding (GO:0008289)			lung(1)	1						ATTTTCAGATGCACTGGGCTA	0.453											OREG0026515	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000405511.1																			0				lung(1)	1						c.(142-144)Cat>Tat		apolipoprotein L, 4							126.0	134.0	131.0					22																	36591424		2194	4295	6489	SO:0001583	missense	80832				lipid metabolic process|lipid transport|lipoprotein metabolic process	extracellular region	lipid binding	g.chr22:36591424G>A	AF305226	CCDS74851.1, CCDS74852.1	22q11.2-q13.2	2013-01-24			ENSG00000100336	ENSG00000100336		"""Apolipoproteins"""	14867	protein-coding gene	gene with protein product		607254				11374903	Standard	NM_030643		Approved	APOLIV	uc003aox.3	Q9BPW4	OTTHUMG00000150630	ENST00000405511.1:c.142C>T	22.37:g.36591424G>A	ENSP00000384011:p.His48Tyr		OREG0026515	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	864	APOL4_ENST00000429038.2_Missense_Mutation_p.H48Y|APOL4_ENST00000352371.1_Missense_Mutation_p.H51Y|APOL4_ENST00000479929.1_5'UTR|APOL4_ENST00000404685.3_Missense_Mutation_p.H51Y|APOL4_ENST00000332987.1_Missense_Mutation_p.H48Y	p.H48Y	NM_030643.3	NP_085146.2	Q9BPW4	APOL4_HUMAN			5	564	-			51					Q9BQ37|Q9BXQ8	Missense_Mutation	SNP	ENST00000405511.1	37	c.142C>T		.	.	.	.	.	.	.	.	.	.	g	4.845	0.157007	0.09236	.	.	ENSG00000100336	ENST00000404685;ENST00000405511;ENST00000429038;ENST00000352371;ENST00000332987;ENST00000457630;ENST00000419360;ENST00000449084	T;T;T;T;T;T;T;T	0.61392	3.98;3.98;3.98;3.98;3.98;3.98;0.68;0.11	3.12	0.893	0.19236	.	1.357430	0.04772	N	0.428296	T	0.24967	0.0606	.	.	.	0.09310	N	1	P;P	0.44309	0.832;0.798	B;B	0.32342	0.144;0.089	T	0.16158	-1.0412	9	0.05721	T	0.95	.	4.3113	0.10972	0.0:0.6123:0.2444:0.1433	.	51;48	Q9BPW4;Q9BPW4-3	APOL4_HUMAN;.	Y	51;48;48;51;48;48;48;48	ENSP00000385119:H51Y;ENSP00000384011:H48Y;ENSP00000404366:H48Y;ENSP00000338260:H51Y;ENSP00000333229:H48Y;ENSP00000409085:H48Y;ENSP00000395548:H48Y;ENSP00000388936:H48Y	ENSP00000333229:H48Y	H	-	1	0	APOL4	34921370	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.893000	0.04127	0.154000	0.19237	0.195000	0.17529	CAT		0.453	APOL4-002	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000319256.2	NM_145660		6	55	0	0	0	1	0	6	55				
RP1	6101	broad.mit.edu	37	8	55540689	55540689	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45T-01A-11D-A24D-08	TCGA-CV-A45T-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09a3a7a-cd0a-444e-b8f3-c99c43e5a998	9b899cf9-fd99-410a-9f1b-aa2a80135740	g.chr8:55540689C>G	ENST00000220676.1	+	4	4395	c.4247C>G	c.(4246-4248)tCt>tGt	p.S1416C		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1416					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AAACATAGTTCTCTAGATGAT	0.363																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(4246-4248)tCt>tGt		retinitis pigmentosa 1 (autosomal dominant)							50.0	55.0	53.0					8																	55540689		2197	4299	6496	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55540689C>G	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.4247C>G	8.37:g.55540689C>G	ENSP00000220676:p.Ser1416Cys						p.S1416C	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	4395	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	1416						Missense_Mutation	SNP	ENST00000220676.1	37	c.4247C>G	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	C	9.028	0.986617	0.18889	.	.	ENSG00000104237	ENST00000220676	T	0.27402	1.67	5.48	3.7	0.42460	.	0.530450	0.17342	N	0.177712	T	0.26521	0.0648	L	0.27053	0.805	0.09310	N	1	D	0.63880	0.993	P	0.49999	0.628	T	0.07481	-1.0770	10	0.59425	D	0.04	.	5.8441	0.18652	0.2486:0.5929:0.0:0.1585	.	1416	P56715	RP1_HUMAN	C	1416	ENSP00000220676:S1416C	ENSP00000220676:S1416C	S	+	2	0	RP1	55703242	0.045000	0.20229	0.015000	0.15790	0.135000	0.20990	0.504000	0.22626	0.687000	0.31509	-0.150000	0.13652	TCT		0.363	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		3	27	0	0	0	1	0	3	27				
ITGAL	3683	broad.mit.edu	37	16	30531237	30531237	+	Silent	SNP	C	C	T			TCGA-CV-A45T-01A-11D-A24D-08	TCGA-CV-A45T-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09a3a7a-cd0a-444e-b8f3-c99c43e5a998	9b899cf9-fd99-410a-9f1b-aa2a80135740	g.chr16:30531237C>T	ENST00000356798.6	+	30	3468	c.3288C>T	c.(3286-3288)agC>agT	p.S1096S	ITGAL_ENST00000358164.5_Silent_p.S1012S|ITGAL_ENST00000433423.2_Silent_p.S330S	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	1096					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	ACGTGCTGAGCGGCATCGGGG	0.592																																					NSCLC(110;1462 1641 3311 33990 49495)	ENST00000356798.6																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76						c.(3286-3288)agC>agT		integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	Efalizumab(DB00095)						161.0	145.0	150.0					16																	30531237		2197	4300	6497	SO:0001819	synonymous_variant	3683				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	g.chr16:30531237C>T		CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"""CD molecules"", ""Integrins"""	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.3288C>T	16.37:g.30531237C>T						ITGAL_ENST00000358164.5_Silent_p.S1012S|ITGAL_ENST00000433423.2_Silent_p.S330S	p.S1096S	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN			30	3468	+			1096					O43746|Q45H73|Q96HB1|Q9UBC8	Silent	SNP	ENST00000356798.6	37	c.3288C>T	CCDS32433.1																																																																																				0.592	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2			8	126	0	0	0	1	0	8	126				
SLC17A7	57030	broad.mit.edu	37	19	49933867	49933867	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45T-01A-11D-A24D-08	TCGA-CV-A45T-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09a3a7a-cd0a-444e-b8f3-c99c43e5a998	9b899cf9-fd99-410a-9f1b-aa2a80135740	g.chr19:49933867G>A	ENST00000221485.3	-	12	1763	c.1592C>T	c.(1591-1593)cCg>cTg	p.P531L	SLC17A7_ENST00000543531.1_Missense_Mutation_p.P519L|SLC17A7_ENST00000600601.1_Missense_Mutation_p.P464L	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	531	Pro-rich.				glutamate secretion (GO:0014047)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|long-term memory (GO:0007616)|neurotransmitter secretion (GO:0007269)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sequestering of neurotransmitter (GO:0042137)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|synaptic vesicle membrane (GO:0030672)	inorganic phosphate transmembrane transporter activity (GO:0005315)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:inorganic phosphate symporter activity (GO:0015319)	p.P531L(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		GGGTGCCCCCGGGGGCTCAGC	0.662																																						ENST00000221485.3																			1	Substitution - Missense(1)	p.P531L(1)	large_intestine(1)	autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26						c.(1591-1593)cCg>cTg		solute carrier family 17 (vesicular glutamate transporter), member 7							28.0	27.0	27.0					19																	49933867		2203	4298	6501	SO:0001583	missense	57030				glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity	g.chr19:49933867G>A	AB032436	CCDS12764.1	19q13.33	2013-07-18	2013-07-18		ENSG00000104888	ENSG00000104888		"""Solute carriers"""	16704	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 1"""	605208	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7"""			8632143, 10820226	Standard	NM_020309		Approved	BNPI, VGLUT1	uc002pnp.3	Q9P2U7		ENST00000221485.3:c.1592C>T	19.37:g.49933867G>A	ENSP00000221485:p.Pro531Leu					SLC17A7_ENST00000543531.1_Missense_Mutation_p.P519L|SLC17A7_ENST00000600601.1_Missense_Mutation_p.P464L	p.P531L	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)	12	1763	-		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)	531			Pro-rich.		B4DFR9|B4DG46|Q6PCD0	Missense_Mutation	SNP	ENST00000221485.3	37	c.1592C>T	CCDS12764.1	.	.	.	.	.	.	.	.	.	.	G	10.48	1.360742	0.24598	.	.	ENSG00000104888	ENST00000221485;ENST00000543531	T;T	0.62639	0.01;0.01	4.68	4.68	0.58851	.	0.099687	0.43416	D	0.000570	T	0.39436	0.1078	N	0.22421	0.69	0.47276	D	0.999374	B;P	0.39782	0.019;0.688	B;B	0.29942	0.007;0.109	T	0.28427	-1.0044	10	0.27785	T	0.31	.	8.9592	0.35836	0.0995:0.0:0.9005:0.0	.	531;373	Q9P2U7;A8K0Q7	VGLU1_HUMAN;.	L	531;519	ENSP00000221485:P531L;ENSP00000441767:P519L	ENSP00000221485:P531L	P	-	2	0	SLC17A7	54625679	0.945000	0.32115	0.842000	0.33263	0.734000	0.41952	1.641000	0.37197	2.614000	0.88457	0.585000	0.79938	CCG		0.662	SLC17A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465367.2			7	27	0	0	0	1	0	7	27				
IL12RB2	3595	broad.mit.edu	37	1	67787343	67787343	+	Silent	SNP	C	C	T			TCGA-CV-A45T-01A-11D-A24D-08	TCGA-CV-A45T-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09a3a7a-cd0a-444e-b8f3-c99c43e5a998	9b899cf9-fd99-410a-9f1b-aa2a80135740	g.chr1:67787343C>T	ENST00000262345.1	+	3	775	c.135C>T	c.(133-135)tcC>tcT	p.S45S	IL12RB2_ENST00000541374.1_Silent_p.S45S|IL12RB2_ENST00000371000.1_Silent_p.S45S|IL12RB2_ENST00000544434.1_Silent_p.S45S	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	45					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma production (GO:0032609)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interferon-gamma production (GO:0032729)|response to lipopolysaccharide (GO:0032496)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						TACTTGGATCCACTGTCAATA	0.388																																						ENST00000262345.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						c.(133-135)tcC>tcT		interleukin 12 receptor, beta 2							134.0	123.0	127.0					1																	67787343		2203	4300	6503	SO:0001819	synonymous_variant	3595				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity	g.chr1:67787343C>T	U64198	CCDS638.1, CCDS58006.1, CCDS58007.1, CCDS72805.1	1p31.3-p31.2	2014-07-15			ENSG00000081985	ENSG00000081985		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	5972	protein-coding gene	gene with protein product		601642				9284929, 8943050	Standard	NM_001559		Approved		uc001ddu.3	Q99665	OTTHUMG00000009094	ENST00000262345.1:c.135C>T	1.37:g.67787343C>T						IL12RB2_ENST00000544434.1_Silent_p.S45S|IL12RB2_ENST00000371000.1_Silent_p.S45S|IL12RB2_ENST00000541374.1_Silent_p.S45S	p.S45S	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN			3	775	+			45					B1AN98|B7ZKL9|F5H7L6|Q2M3V3	Silent	SNP	ENST00000262345.1	37	c.135C>T	CCDS638.1																																																																																				0.388	IL12RB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025202.2	NM_001559		11	63	0	0	0	1	0	11	63				
PCDHA9	9752	broad.mit.edu	37	5	140229428	140229428	+	Missense_Mutation	SNP	G	G	A	rs369746155		TCGA-CV-A45T-01A-11D-A24D-08	TCGA-CV-A45T-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09a3a7a-cd0a-444e-b8f3-c99c43e5a998	9b899cf9-fd99-410a-9f1b-aa2a80135740	g.chr5:140229428G>A	ENST00000532602.1	+	1	2381	c.1348G>A	c.(1348-1350)Gac>Aac	p.D450N	PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.D450N|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	450	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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)			CGACGTGAACGACAACGCACC	0.662																																					Melanoma(55;1800 1972 14909)	ENST00000378122.3																			0				breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59						c.(1348-1350)Gac>Aac									89.0	83.0	85.0					5																	140229428		2196	4271	6467	SO:0001583	missense	9752							g.chr5:140229428G>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.1348G>A	5.37:g.140229428G>A	ENSP00000436042:p.Asp450Asn					PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.D450N|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	p.D450N	NM_014005.3	NP_054724.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2072	+								O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	37	c.1348G>A	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.477573	0.84640	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.71579	-0.58;-0.58	3.56	3.56	0.40772	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.33180	U	0.005193	D	0.91188	0.7224	H	0.99675	4.695	0.42978	D	0.994455	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.95455	0.8538	10	0.87932	D	0	.	15.7535	0.78005	0.0:0.0:1.0:0.0	.	450;450	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	N	450	ENSP00000436042:D450N;ENSP00000367362:D450N	ENSP00000367362:D450N	D	+	1	0	PCDHA9	140209612	1.000000	0.71417	1.000000	0.80357	0.592000	0.36648	8.897000	0.92532	1.973000	0.57446	0.306000	0.20318	GAC		0.662	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		6	85	0	0	0	1	0	6	85				
HMHA1	23526	broad.mit.edu	37	19	1080060	1080060	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45T-01A-11D-A24D-08	TCGA-CV-A45T-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09a3a7a-cd0a-444e-b8f3-c99c43e5a998	9b899cf9-fd99-410a-9f1b-aa2a80135740	g.chr19:1080060G>A	ENST00000313093.2	+	13	1877	c.1646G>A	c.(1645-1647)cGg>cAg	p.R549Q	HMHA1_ENST00000536472.1_Missense_Mutation_p.R389Q|HMHA1_ENST00000590577.1_Missense_Mutation_p.R184Q|HMHA1_ENST00000543365.1_Missense_Mutation_p.R432Q|HMHA1_ENST00000590214.1_Missense_Mutation_p.R576Q|HMHA1_ENST00000539243.2_Missense_Mutation_p.R565Q|HMHA1_ENST00000586866.1_Missense_Mutation_p.R553Q	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	549					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGCTGCAGCGGGACCAGGAG	0.677																																						ENST00000313093.2																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16						c.(1645-1647)cGg>cAg		histocompatibility (minor) HA-1							48.0	47.0	47.0					19																	1080060		2203	4299	6502	SO:0001583	missense	23526				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding	g.chr19:1080060G>A	D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448		"""Rho GTPase activating proteins"""	17102	protein-coding gene	gene with protein product		601155				9820596, 9039502	Standard	NM_012292		Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000313093.2:c.1646G>A	19.37:g.1080060G>A	ENSP00000316772:p.Arg549Gln					HMHA1_ENST00000543365.1_Missense_Mutation_p.R432Q|HMHA1_ENST00000539243.2_Missense_Mutation_p.R565Q|HMHA1_ENST00000590577.1_Missense_Mutation_p.R184Q|HMHA1_ENST00000590214.1_Missense_Mutation_p.R576Q|HMHA1_ENST00000536472.1_Missense_Mutation_p.R389Q|HMHA1_ENST00000586866.1_Missense_Mutation_p.R553Q	p.R549Q	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	13	1877	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	549					B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Missense_Mutation	SNP	ENST00000313093.2	37	c.1646G>A	CCDS32863.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.098285	0.56183	.	.	ENSG00000180448	ENST00000539243;ENST00000313093;ENST00000544746;ENST00000536472;ENST00000412039;ENST00000543365	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	4.25	4.25	0.50352	.	0.354592	0.26578	U	0.023582	T	0.52322	0.1727	M	0.66939	2.045	0.24788	N	0.992771	D;D;P;D;D	0.76494	0.997;0.999;0.899;0.993;0.997	P;P;B;P;P	0.60117	0.755;0.869;0.233;0.588;0.608	T	0.43589	-0.9382	10	0.15499	T	0.54	-15.415	10.2566	0.43401	0.0:0.2025:0.7975:0.0	.	389;565;184;432;549	F5H4A3;F6QP70;B3KVA9;F5H1R4;Q92619	.;.;.;.;HMHA1_HUMAN	Q	565;549;549;389;543;432	ENSP00000439601:R565Q;ENSP00000316772:R549Q;ENSP00000445109:R389Q;ENSP00000438979:R432Q	ENSP00000316772:R549Q	R	+	2	0	HMHA1	1031060	1.000000	0.71417	0.914000	0.36105	0.659000	0.38960	4.254000	0.58798	1.929000	0.55896	0.561000	0.74099	CGG		0.677	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458026.1			4	49	0	0	0	1	0	4	49				
AP1B1	162	broad.mit.edu	37	22	29750746	29750746	+	Nonsense_Mutation	SNP	G	G	T	rs138572174	byFrequency	TCGA-CV-A45T-01A-11D-A24D-08	TCGA-CV-A45T-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09a3a7a-cd0a-444e-b8f3-c99c43e5a998	9b899cf9-fd99-410a-9f1b-aa2a80135740	g.chr22:29750746G>T	ENST00000405198.1	-	6	862	c.831C>A	c.(829-831)taC>taA	p.Y277*	AP1B1_ENST00000357586.2_Nonsense_Mutation_p.Y277*|AP1B1_ENST00000415447.1_Nonsense_Mutation_p.Y277*|AP1B1_ENST00000356015.2_Nonsense_Mutation_p.Y277*|AP1B1_ENST00000317368.7_Nonsense_Mutation_p.Y277*|AP1B1_ENST00000402502.1_Nonsense_Mutation_p.Y277*|AP1B1_ENST00000432560.2_Nonsense_Mutation_p.Y277*			Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	277					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GCAGTGTGCCGTAGTAGTCCA	0.572																																						ENST00000357586.2																			0				endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(829-831)taC>taA		adaptor-related protein complex 1, beta 1 subunit							157.0	118.0	131.0					22																	29750746		2203	4300	6503	SO:0001587	stop_gained	162				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity	g.chr22:29750746G>T	L13939	CCDS13855.1, CCDS13856.1, CCDS13856.2, CCDS54515.1	22q12.2	2010-06-18			ENSG00000100280	ENSG00000100280			554	protein-coding gene	gene with protein product		600157		ADTB1, CLAPB2		7987321, 8812422	Standard	NM_145730		Approved	BAM22, AP105A	uc003afj.3	Q10567	OTTHUMG00000151109	ENST00000405198.1:c.831C>A	22.37:g.29750746G>T	ENSP00000384194:p.Tyr277*					AP1B1_ENST00000402502.1_Nonsense_Mutation_p.Y277*|AP1B1_ENST00000432560.2_Nonsense_Mutation_p.Y277*|AP1B1_ENST00000356015.2_Nonsense_Mutation_p.Y277*|AP1B1_ENST00000415447.1_Nonsense_Mutation_p.Y277*|AP1B1_ENST00000317368.7_Nonsense_Mutation_p.Y277*|AP1B1_ENST00000405198.1_Nonsense_Mutation_p.Y277*	p.Y277*	NM_001127.3	NP_001118.3	Q10567	AP1B1_HUMAN			7	1017	-			277					C9JRD1|F8WDL0|P78436|Q20WL3|Q86X54	Nonsense_Mutation	SNP	ENST00000405198.1	37	c.831C>A	CCDS13855.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.942842	0.92526	.	.	ENSG00000100280	ENST00000357586;ENST00000356015;ENST00000432560;ENST00000405198;ENST00000317368;ENST00000402502;ENST00000415447;ENST00000421126	.	.	.	5.29	-7.31	0.01441	.	0.051153	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-13.2261	13.9915	0.64369	0.5927:0.0:0.4073:0.0	.	.	.	.	X	277	.	ENSP00000319361:Y277X	Y	-	3	2	AP1B1	28080746	0.000000	0.05858	0.957000	0.39632	0.715000	0.41141	-2.646000	0.00860	-1.014000	0.03379	-0.982000	0.02568	TAC		0.572	AP1B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321374.1	NM_001127		4	49	1	0	1	1	1	4	49				
NCS1	23413	broad.mit.edu	37	9	132980238	132980238	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45T-01A-11D-A24D-08	TCGA-CV-A45T-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09a3a7a-cd0a-444e-b8f3-c99c43e5a998	9b899cf9-fd99-410a-9f1b-aa2a80135740	g.chr9:132980238G>C	ENST00000372398.3	+	3	303	c.217G>C	c.(217-219)Gat>Cat	p.D73H	NCS1_ENST00000458469.1_Missense_Mutation_p.D55H	NM_014286.3	NP_055101.2	P62166	NCS1_HUMAN	neuronal calcium sensor 1	73	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium ion transmembrane transport (GO:0070588)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of exocytosis (GO:0045921)|regulation of neuron projection development (GO:0010975)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)|magnesium ion binding (GO:0000287)|voltage-gated calcium channel activity (GO:0005245)			large_intestine(1)|lung(4)|stomach(1)	6						CAACGTCTTTGATGAAAACAA	0.567																																					Melanoma(30;182 1162 22581 33240)	ENST00000372398.3																			0				large_intestine(1)|lung(4)|stomach(1)	6						c.(217-219)Gat>Cat		neuronal calcium sensor 1							79.0	80.0	80.0					9																	132980238		2203	4300	6503	SO:0001583	missense	23413				negative regulation of calcium ion transport via voltage-gated calcium channel activity|regulation of neuron projection development	cell junction|Golgi cisterna membrane|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|protein binding	g.chr9:132980238G>C	AF186409	CCDS6932.1	9q34.11	2013-01-10	2010-01-27	2010-01-27	ENSG00000107130	ENSG00000107130		"""EF-hand domain containing"""	3953	protein-coding gene	gene with protein product		603315	"""frequenin (Drosophila) homolog"", ""frequenin homolog (Drosophila)"""	FREQ		11092894	Standard	NM_014286		Approved	NCS-1	uc004bzi.2	P62166	OTTHUMG00000020801	ENST00000372398.3:c.217G>C	9.37:g.132980238G>C	ENSP00000361475:p.Asp73His					NCS1_ENST00000458469.1_Missense_Mutation_p.D55H	p.D73H	NM_014286.3	NP_055101.2	P62166	NCS1_HUMAN			3	303	+			73			EF-hand 2.		E9PAY3|P36610|Q9UK26	Missense_Mutation	SNP	ENST00000372398.3	37	c.217G>C	CCDS6932.1	.	.	.	.	.	.	.	.	.	.	G	18.45	3.627345	0.66901	.	.	ENSG00000107130	ENST00000372398;ENST00000458469	D;D	0.97232	-4.3;-4.3	4.42	4.42	0.53409	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.99257	0.9741	H	0.99746	4.745	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98331	1.0533	10	0.87932	D	0	.	16.0249	0.80536	0.0:0.0:1.0:0.0	.	55;73	E9PAY3;P62166	.;NCS1_HUMAN	H	73;55	ENSP00000361475:D73H;ENSP00000404103:D55H	ENSP00000361475:D73H	D	+	1	0	NCS1	132020059	1.000000	0.71417	0.935000	0.37517	0.376000	0.30014	9.623000	0.98386	2.017000	0.59298	0.455000	0.32223	GAT		0.567	NCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054637.1	NM_014286		5	52	0	0	0	1	0	5	52				
PTPN12	5782	broad.mit.edu	37	7	77212909	77212909	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45T-01A-11D-A24D-08	TCGA-CV-A45T-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09a3a7a-cd0a-444e-b8f3-c99c43e5a998	9b899cf9-fd99-410a-9f1b-aa2a80135740	g.chr7:77212909G>A	ENST00000248594.6	+	4	595	c.323G>A	c.(322-324)gGa>gAa	p.G108E	PTPN12_ENST00000435495.2_Intron|PTPN12_ENST00000415482.2_5'UTR	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	108	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				protein dephosphorylation (GO:0006470)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|podosome (GO:0002102)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|SH3 domain binding (GO:0017124)			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						GCAACTCAAGGACCTTTAGCA	0.299																																						ENST00000248594.6																			0				breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						c.(322-324)gGa>gAa		protein tyrosine phosphatase, non-receptor type 12							119.0	119.0	119.0					7																	77212909		2203	4300	6503	SO:0001583	missense	5782					soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding	g.chr7:77212909G>A		CCDS5592.1, CCDS47619.1, CCDS47620.1	7q11.23	2011-06-09			ENSG00000127947	ENSG00000127947		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9645	protein-coding gene	gene with protein product		600079				7509295	Standard	NM_002835		Approved	PTPG1, PTP-PEST	uc003ugh.2	Q05209	OTTHUMG00000023501	ENST00000248594.6:c.323G>A	7.37:g.77212909G>A	ENSP00000248594:p.Gly108Glu					PTPN12_ENST00000435495.2_Intron|PTPN12_ENST00000415482.2_5'UTR	p.G108E	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN			4	595	+			108			Tyrosine-protein phosphatase.		A4D1C5|B4DKY2|E9PBR5|E9PEH9|Q16130|Q59FD6|Q75MN8|Q86XU4	Missense_Mutation	SNP	ENST00000248594.6	37	c.323G>A	CCDS5592.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.7|24.7	4.563825|4.563825	0.86335|0.86335	.|.	.|.	ENSG00000127947|ENSG00000127947	ENST00000522115|ENST00000248594	.|T	.|0.14766	.|2.48	5.65|5.65	5.65|5.65	0.86999|0.86999	.|Protein-tyrosine phosphatase, receptor/non-receptor type (4);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.51176|0.51176	0.1659|0.1659	M|M	0.93854|0.93854	3.465|3.465	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	T|T	0.63695|0.63695	-0.6579|-0.6579	5|10	.|0.87932	.|D	.|0	.|.	19.3097|19.3097	0.94182|0.94182	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|108	.|Q05209	.|PTN12_HUMAN	N|E	71|108	.|ENSP00000248594:G108E	.|ENSP00000248594:G108E	D|G	+|+	1|2	0|0	PTPN12|PTPN12	77050845|77050845	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	8.024000|8.024000	0.88770|0.88770	2.650000|2.650000	0.89964|0.89964	0.591000|0.591000	0.81541|0.81541	GAC|GGA		0.299	PTPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253183.3			3	21	0	0	0	1	0	3	21				
PRRC2A	7916	broad.mit.edu	37	6	31600586	31600586	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45T-01A-11D-A24D-08	TCGA-CV-A45T-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09a3a7a-cd0a-444e-b8f3-c99c43e5a998	9b899cf9-fd99-410a-9f1b-aa2a80135740	g.chr6:31600586A>T	ENST00000376033.2	+	16	4370	c.4136A>T	c.(4135-4137)gAt>gTt	p.D1379V	PRRC2A_ENST00000376007.4_Missense_Mutation_p.D1379V	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1379	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						AGAGCCAAGGATTTGAGTAAA	0.622																																						ENST00000376033.2																			0				breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						c.(4135-4137)gAt>gTt		proline-rich coiled-coil 2A							124.0	137.0	133.0					6																	31600586		1509	2708	4217	SO:0001583	missense	7916					cytoplasm|nucleus	protein binding	g.chr6:31600586A>T	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.4136A>T	6.37:g.31600586A>T	ENSP00000365201:p.Asp1379Val					PRRC2A_ENST00000376007.4_Missense_Mutation_p.D1379V	p.D1379V	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN			16	4370	+			1379			4 X 57 AA type A repeats.		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	ENST00000376033.2	37	c.4136A>T	CCDS4708.1	.	.	.	.	.	.	.	.	.	.	A	9.917	1.211112	0.22289	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033;ENST00000376010	T;T	0.01902	4.57;4.57	5.22	5.22	0.72569	.	0.000000	0.64402	D	0.000017	T	0.03695	0.0105	L	0.43152	1.355	0.80722	D	1	D	0.64830	0.994	P	0.59889	0.865	T	0.48352	-0.9043	10	0.87932	D	0	-14.5595	14.2258	0.65858	1.0:0.0:0.0:0.0	.	1379	P48634	PRC2A_HUMAN	V	1373;1362;1379;1379;604	ENSP00000365175:D1379V;ENSP00000365201:D1379V	ENSP00000365175:D1379V	D	+	2	0	PRRC2A	31708565	0.999000	0.42202	1.000000	0.80357	0.992000	0.81027	3.918000	0.56432	2.192000	0.70111	0.459000	0.35465	GAT		0.622	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		8	87	0	0	0	1	0	8	87				
NALCN	259232	broad.mit.edu	37	13	101720363	101720363	+	Silent	SNP	G	G	A			TCGA-CV-A45T-01A-11D-A24D-08	TCGA-CV-A45T-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09a3a7a-cd0a-444e-b8f3-c99c43e5a998	9b899cf9-fd99-410a-9f1b-aa2a80135740	g.chr13:101720363G>A	ENST00000251127.6	-	39	4434	c.4353C>T	c.(4351-4353)tcC>tcT	p.S1451S		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1451					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AATAAAACAAGGAGAAATTCT	0.323																																						ENST00000251127.6																			0				NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177						c.(4351-4353)tcC>tcT		sodium leak channel, non-selective							96.0	93.0	94.0					13																	101720363		2203	4300	6503	SO:0001819	synonymous_variant	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101720363G>A	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.4353C>T	13.37:g.101720363G>A							p.S1451S	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN			39	4434	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		1451					Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Silent	SNP	ENST00000251127.6	37	c.4353C>T	CCDS9498.1																																																																																				0.323	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		4	18	0	0	0	1	0	4	18				
FAM66D	100132923	broad.mit.edu	37	8	11986016	11986016	+	RNA	SNP	C	C	A	rs542617314	byFrequency	TCGA-CV-A45T-01A-11D-A24D-08	TCGA-CV-A45T-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09a3a7a-cd0a-444e-b8f3-c99c43e5a998	9b899cf9-fd99-410a-9f1b-aa2a80135740	g.chr8:11986016C>A	ENST00000434078.2	+	0	608					NR_027425.1				family with sequence similarity 66, member D																		AACGTCTTGGCGGCAGGCGCC	0.478																																						ENST00000434078.2																			0																																																			100132923							g.chr8:11986016C>A			8p23.1	2013-07-05			ENSG00000255052	ENSG00000255052		"""Long non-coding RNAs"""	24159	non-coding RNA	RNA, long non-coding							Standard	NR_027425		Approved				OTTHUMG00000165269		8.37:g.11986016C>A								NR_027425.1						0	608	+									RNA	SNP	ENST00000434078.2	37																																																																																						0.478	FAM66D-201	KNOWN	basic	antisense	antisense		NR_027425		4	34	1	0	0.014758	1	0.0158512	4	34				
SIX1	6495	broad.mit.edu	37	14	61115498	61115498	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45T-01A-11D-A24D-08	TCGA-CV-A45T-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09a3a7a-cd0a-444e-b8f3-c99c43e5a998	9b899cf9-fd99-410a-9f1b-aa2a80135740	g.chr14:61115498C>T	ENST00000247182.6	-	1	682	c.410G>A	c.(409-411)gGt>gAt	p.G137D	SIX1_ENST00000554986.1_Intron	NM_005982.3	NP_005973.1	Q15475	SIX1_HUMAN	SIX homeobox 1	137					aorta morphogenesis (GO:0035909)|apoptotic process (GO:0006915)|branching involved in ureteric bud morphogenesis (GO:0001658)|cochlea morphogenesis (GO:0090103)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic skeletal system morphogenesis (GO:0048704)|epithelial cell differentiation (GO:0030855)|facial nerve morphogenesis (GO:0021610)|generation of neurons (GO:0048699)|inner ear development (GO:0048839)|inner ear morphogenesis (GO:0042472)|kidney development (GO:0001822)|mesonephric tubule formation (GO:0072172)|metanephric mesenchyme development (GO:0072075)|middle ear morphogenesis (GO:0042474)|myoblast migration (GO:0051451)|negative regulation of branching involved in ureteric bud morphogenesis (GO:0090191)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|organ induction (GO:0001759)|otic vesicle development (GO:0071599)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|protein localization to nucleus (GO:0034504)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of neuron differentiation (GO:0045664)|regulation of protein localization (GO:0032880)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|skeletal muscle tissue development (GO:0007519)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0201)		CCGCAGGACACCCCTCGACTT	0.652																																						ENST00000247182.6																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	13						c.(409-411)gGt>gAt		SIX homeobox 1							65.0	61.0	63.0					14																	61115498		2203	4300	6503	SO:0001583	missense	6495				branching involved in ureteric bud morphogenesis|embryonic cranial skeleton morphogenesis|epithelial cell differentiation|inner ear morphogenesis|mesonephric tubule formation|metanephric mesenchyme development|myoblast migration|negative regulation of neuron apoptosis|organ induction|pattern specification process|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|protein localization to nucleus|regulation of branch elongation involved in ureteric bud branching|regulation of neuron differentiation|skeletal muscle tissue development|thymus development|thyroid gland development	nucleolus|transcription factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr14:61115498C>T	X91868	CCDS9748.1	14q23.1	2011-06-20	2007-07-13		ENSG00000126778	ENSG00000126778		"""Homeoboxes / SINE class"""	10887	protein-coding gene	gene with protein product		601205	"""sine oculis homeobox (Drosophila) homolog 1"", ""sine oculis homeobox homolog 1 (Drosophila)"", ""deafness, autosomal dominant 23"""	DFNA23		8617500, 15141091	Standard	NM_005982		Approved		uc001xfb.4	Q15475	OTTHUMG00000140334	ENST00000247182.6:c.410G>A	14.37:g.61115498C>T	ENSP00000247182:p.Gly137Asp					SIX1_ENST00000554986.1_Intron	p.G137D	NM_005982.3	NP_005973.1	Q15475	SIX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0201)	1	682	-			137					Q53Y16|Q96H64	Missense_Mutation	SNP	ENST00000247182.6	37	c.410G>A	CCDS9748.1	.	.	.	.	.	.	.	.	.	.	C	18.24	3.580044	0.65992	.	.	ENSG00000126778	ENST00000247182	D	0.95980	-3.87	5.97	5.03	0.67393	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.86640	0.5981	N	0.02391	-0.57	0.80722	D	1	B	0.06786	0.001	B	0.19946	0.027	T	0.82234	-0.0558	10	0.54805	T	0.06	-16.3638	10.3065	0.43683	0.1376:0.7908:0.0:0.0716	.	137	Q15475	SIX1_HUMAN	D	137	ENSP00000247182:G137D	ENSP00000247182:G137D	G	-	2	0	SIX1	60185251	0.908000	0.30866	1.000000	0.80357	0.981000	0.71138	4.879000	0.63100	2.828000	0.97474	0.655000	0.94253	GGT		0.652	SIX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276951.3			4	52	0	0	0	1	0	4	52				
GHR	2690	broad.mit.edu	37	5	42689050	42689050	+	Silent	SNP	A	A	G	rs140501920		TCGA-CV-A45T-01A-11D-A24D-08	TCGA-CV-A45T-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09a3a7a-cd0a-444e-b8f3-c99c43e5a998	9b899cf9-fd99-410a-9f1b-aa2a80135740	g.chr5:42689050A>G	ENST00000230882.4	+	4	385	c.195A>G	c.(193-195)tcA>tcG	p.S65S	GHR_ENST00000357703.3_Silent_p.S43S|GHR_ENST00000537449.1_Intron	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	65					2-oxoglutarate metabolic process (GO:0006103)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPK activity (GO:0000187)|allantoin metabolic process (GO:0000255)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|endocytosis (GO:0006897)|fatty acid metabolic process (GO:0006631)|growth hormone receptor signaling pathway (GO:0060396)|insulin-like growth factor receptor signaling pathway (GO:0048009)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|multicellular organismal metabolic process (GO:0044236)|oxaloacetate metabolic process (GO:0006107)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|receptor internalization (GO:0031623)|regulation of multicellular organism growth (GO:0040014)|response to cycloheximide (GO:0046898)|response to estradiol (GO:0032355)|succinate metabolic process (GO:0006105)|taurine metabolic process (GO:0019530)|valine metabolic process (GO:0006573)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|growth hormone receptor complex (GO:0070195)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine receptor activity (GO:0004896)|growth factor binding (GO:0019838)|peptide hormone binding (GO:0017046)|proline-rich region binding (GO:0070064)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	AGACTTTTTCATGCCACTGGA	0.448																																						ENST00000230882.4																			0				NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(193-195)tcA>tcG		growth hormone receptor	Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	A	,,,,,,,,,,,	0,4406		0,0,2203	268.0	248.0	255.0		195,216,195,195,195,195,195,195,195,129,195,195	4.5	1.0	5	dbSNP_134	255	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	GHR	NM_000163.4,NM_001242399.2,NM_001242400.2,NM_001242401.3,NM_001242402.2,NM_001242403.2,NM_001242404.2,NM_001242405.2,NM_001242406.2,NM_001242460.1,NM_001242461.1,NM_001242462.1	,,,,,,,,,,,	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	,,,,,,,,,,,	65/639,72/646,65/639,65/639,65/639,65/639,65/639,65/639,65/639,43/617,65/298,65/296	42689050	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2690				2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding	g.chr5:42689050A>G		CCDS3940.1, CCDS56364.1, CCDS75239.1, CCDS75240.1	5p14-p12	2013-03-25			ENSG00000112964	ENSG00000112964		"""Fibronectin type III domain containing"""	4263	protein-coding gene	gene with protein product	"""growth hormone binding protein"""	600946					Standard	NM_001242460		Approved	GHBP	uc003jmt.3	P10912	OTTHUMG00000094791	ENST00000230882.4:c.195A>G	5.37:g.42689050A>G						GHR_ENST00000357703.3_Silent_p.S43S|GHR_ENST00000537449.1_Intron	p.S65S	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN			4	385	+		Myeloproliferative disorder(839;0.00878)	65					Q9HCX2	Silent	SNP	ENST00000230882.4	37	c.195A>G	CCDS3940.1																																																																																				0.448	GHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211605.2	NM_000163		5	72	0	0	0	1	0	5	72				
EFCAB14	9813	broad.mit.edu	37	1	47173617	47173617	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45T-01A-11D-A24D-08	TCGA-CV-A45T-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09a3a7a-cd0a-444e-b8f3-c99c43e5a998	9b899cf9-fd99-410a-9f1b-aa2a80135740	g.chr1:47173617C>G	ENST00000371933.3	-	3	1417	c.441G>C	c.(439-441)ttG>ttC	p.L147F	EFCAB14_ENST00000544071.1_Missense_Mutation_p.L147F	NM_014774.2	NP_055589.1	O75071	EFC14_HUMAN	EF-hand calcium binding domain 14	147							calcium ion binding (GO:0005509)										AGACTTTGTTCAAACCCATCT	0.338																																						ENST00000371933.3																			0											c.(439-441)ttG>ttC		EF-hand calcium binding domain 14							121.0	112.0	115.0					1																	47173617		2202	4300	6502	SO:0001583	missense	9813							g.chr1:47173617C>G	AB007963	CCDS30706.1	1p33	2013-01-10	2012-11-29	2012-11-29	ENSG00000159658	ENSG00000159658		"""EF-hand domain containing"""	29051	protein-coding gene	gene with protein product			"""KIAA0494"""	KIAA0494		9455484	Standard	NM_014774		Approved		uc001cqk.4	O75071	OTTHUMG00000007992	ENST00000371933.3:c.441G>C	1.37:g.47173617C>G	ENSP00000361001:p.Leu147Phe					EFCAB14_ENST00000544071.1_Missense_Mutation_p.L147F	p.L147F	NM_014774.2	NP_055589.1					3	1417	-								D3DQ23|Q5SXB8	Missense_Mutation	SNP	ENST00000371933.3	37	c.441G>C	CCDS30706.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.899266	0.52227	.	.	ENSG00000159658	ENST00000544071;ENST00000371933	T;T	0.29397	1.57;1.57	5.91	0.738	0.18319	.	0.072851	0.56097	D	0.000028	T	0.47488	0.1448	M	0.63843	1.955	0.40054	D	0.975818	D;D;D;D	0.89917	1.0;1.0;1.0;0.976	D;D;D;P	0.91635	0.999;0.997;0.997;0.775	T	0.40757	-0.9546	10	0.72032	D	0.01	-5.1041	9.8769	0.41209	0.0:0.4879:0.0:0.5121	.	3;147;147;147	B7Z3D1;F5H7K3;B7Z444;O75071	.;.;.;K0494_HUMAN	F	147	ENSP00000442465:L147F;ENSP00000361001:L147F	ENSP00000361001:L147F	L	-	3	2	KIAA0494	46946204	0.996000	0.38824	0.769000	0.31535	0.575000	0.36095	0.373000	0.20484	-0.107000	0.12088	-0.234000	0.12200	TTG		0.338	EFCAB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021931.1	NM_014774		3	31	0	0	0	1	0	3	31				
POLD1	5424	broad.mit.edu	37	19	50912134	50912134	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45T-01A-11D-A24D-08	TCGA-CV-A45T-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09a3a7a-cd0a-444e-b8f3-c99c43e5a998	9b899cf9-fd99-410a-9f1b-aa2a80135740	g.chr19:50912134G>A	ENST00000440232.2	+	15	1921	c.1868G>A	c.(1867-1869)cGg>cAg	p.R623Q	POLD1_ENST00000595904.1_Missense_Mutation_p.R649Q|POLD1_ENST00000599857.1_Missense_Mutation_p.R623Q	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	623					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		ACGCTCCTTCGGCCCGGGACT	0.627								DNA polymerases (catalytic subunits)																														ENST00000440232.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1867-1869)cGg>cAg	DNA polymerases (catalytic subunits)	polymerase (DNA directed), delta 1, catalytic subunit							119.0	102.0	108.0					19																	50912134		2203	4300	6503	SO:0001583	missense	5424				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding	g.chr19:50912134G>A		CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"""DNA polymerases"""	9175	protein-coding gene	gene with protein product	"""CDC2 homolog (S. cerevisiae)"""	174761	"""polymerase (DNA directed), delta 1, catalytic subunit (125kD)"""	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.1868G>A	19.37:g.50912134G>A	ENSP00000406046:p.Arg623Gln					POLD1_ENST00000599857.1_Missense_Mutation_p.R623Q|POLD1_ENST00000595904.1_Missense_Mutation_p.R649Q	p.R623Q	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)	15	1921	+		all_neural(266;0.0571)	623					Q8NER3|Q96H98	Missense_Mutation	SNP	ENST00000440232.2	37	c.1868G>A	CCDS12795.1	.	.	.	.	.	.	.	.	.	.	G	0.770	-0.765954	0.02974	.	.	ENSG00000062822	ENST00000440232;ENST00000376930	T	0.18338	2.22	4.69	2.56	0.30785	DNA-directed DNA polymerase, family B, multifunctional domain (1);	0.216164	0.40469	N	0.001097	T	0.07098	0.0180	N	0.11427	0.14	0.31703	N	0.640477	B;B	0.11235	0.004;0.004	B;B	0.17722	0.019;0.019	T	0.33471	-0.9867	10	0.08837	T	0.75	-26.6966	7.0752	0.25201	0.357:0.0:0.643:0.0	.	649;623	E7EVW0;P28340	.;DPOD1_HUMAN	Q	623;624	ENSP00000406046:R623Q	ENSP00000366129:R624Q	R	+	2	0	POLD1	55603946	1.000000	0.71417	0.658000	0.29665	0.149000	0.21700	3.522000	0.53480	0.540000	0.28808	-0.224000	0.12420	CGG		0.627	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464732.1			6	65	0	0	0	1	0	6	65				
PILRB	29990	broad.mit.edu	37	7	99955866	99955866	+	5'UTR	SNP	G	G	A	rs61735533	byFrequency	TCGA-CV-A45T-01A-11D-A24D-08	TCGA-CV-A45T-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09a3a7a-cd0a-444e-b8f3-c99c43e5a998	9b899cf9-fd99-410a-9f1b-aa2a80135740	g.chr7:99955866G>A	ENST00000452089.1	+	0	1000				PILRB_ENST00000448382.1_Missense_Mutation_p.A103T|PILRB_ENST00000610247.1_5'UTR|PILRB_ENST00000609309.1_5'UTR|STAG3L5P-PVRIG2P-PILRB_ENST00000310771.4_RNA|PILRB_ENST00000444073.1_5'UTR			Q9UKJ0	PILRB_HUMAN	paired immunoglobin-like type 2 receptor beta						activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)				endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCTCCACAGGGCCCCTCTCCT	0.687													g|||	517	0.103235	0.1014	0.1023	5008	,	,		13506	0.0278		0.1759	False		,,,				2504	0.1094					ENST00000448382.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13						c.(307-309)Gcc>Acc		paired immunoglobin-like type 2 receptor beta							15.0	24.0	21.0					7																	99955866		692	1590	2282	SO:0001623	5_prime_UTR_variant	29990				activation of transmembrane receptor protein tyrosine kinase activity	integral to plasma membrane	protein binding|receptor activity	g.chr7:99955866G>A	AF161081, AJ400845	CCDS43622.1	7q22.1	2014-05-16			ENSG00000121716	ENSG00000121716		"""Immunoglobulin superfamily / V-set domain containing"""	18297	protein-coding gene	gene with protein product		605342				10660620	Standard	NM_178238		Approved	FDFACT1, FDFACT2	uc022ail.1	Q9UKJ0	OTTHUMG00000155363	ENST00000452089.1:c.-60G>A	7.37:g.99955866G>A						PILRB_ENST00000444874.1_5'UTR|PILRB_ENST00000444073.1_5'UTR|PILRB_ENST00000310771.4_5'UTR|PILRB_ENST00000452089.1_5'UTR	p.A103T			Q9UKJ0	PILRB_HUMAN			6	1424	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		0			Ig-like V-type.		Q69YF9|Q9HBS0	Missense_Mutation	SNP	ENST00000452089.1	37	c.307G>A	CCDS43622.1	227	0.10393772893772894	43	0.08739837398373984	36	0.09944751381215469	12	0.02097902097902098	136	0.17941952506596306	G	12.41	1.930732	0.34096	.	.	ENSG00000121716	ENST00000448382;ENST00000455145;ENST00000413850	.	.	.	2.15	1.24	0.21308	.	.	.	.	.	T	0.00073	0.0002	.	.	.	0.49798	P	1.7100000000003224E-4	.	.	.	.	.	.	T	0.14868	-1.0457	3	.	.	.	.	4.6589	0.12632	0.1946:0.0:0.8054:0.0	rs61735533	.	.	.	T	103;103;86	.	.	A	+	1	0	PILRB	99793802	0.001000	0.12720	0.011000	0.14972	0.211000	0.24417	0.277000	0.18734	0.450000	0.26774	0.536000	0.68110	GCC		0.687	PILRB-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339923.2	NM_178238		4	58	0	0	0	1	0	4	58				
VWA8	23078	broad.mit.edu	37	13	42301421	42301422	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-A45T-01A-11D-A24D-08	TCGA-CV-A45T-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09a3a7a-cd0a-444e-b8f3-c99c43e5a998	9b899cf9-fd99-410a-9f1b-aa2a80135740	g.chr13:42301421_42301422insT	ENST00000379310.3	-	24	2734_2735	c.2666_2667insA	c.(2665-2667)aatfs	p.N889fs	VWA8_ENST00000281496.6_Frame_Shift_Ins_p.N889fs	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	889						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										TCACTACAACATTTTCTCTTCC	0.297																																						ENST00000379310.3																			0											c.(2665-2667)agtfs		von Willebrand factor A domain containing 8																																				SO:0001589	frameshift_variant	23078							g.chr13:42301421_42301422insT	AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"""KIAA0564"""	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.2667dupA	13.37:g.42301425_42301425dupT	ENSP00000368612:p.Asn889fs					VWA8_ENST00000281496.6_Frame_Shift_Ins_p.S889fs	p.S889fs	NM_015058.1	NP_055873.1					24	2734_2735	-								O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Frame_Shift_Ins	INS	ENST00000379310.3	37	c.2666_2667insA	CCDS41881.1																																																																																				0.297	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058		2	4						2	4	---	---	---	---
