#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
CAMTA1	23261	broad.mit.edu	37	1	7811328	7811329	+	Frame_Shift_Ins	INS	-	-	A			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr1:7811328_7811329insA	ENST00000303635.7	+	20	4966_4967	c.4759_4760insA	c.(4759-4761)caafs	p.Q1587fs	CAMTA1_ENST00000439411.2_Frame_Shift_Ins_p.Q1573fs|CAMTA1_ENST00000476864.1_Frame_Shift_Ins_p.Q151fs	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1587	IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.K1589fs*33(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TTACTATGAACAAAAAAAATTC	0.47			T	WWTR1	epitheliod hemangioendothelioma																																	uc001aoi.2				Dom	yes		1	1p36.31-p36.23	611501		calmodulin binding transcription activator 1			M					1	Deletion - Frameshift(1)		lung(1)	ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9						c.(4759-4761)CAAfs		calmodulin-binding transcription activator 1																																				SO:0001589	frameshift_variant	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7811328_7811329insA	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.4767dupA	1.37:g.7811336_7811336dupA	ENSP00000306522:p.Gln1587fs					CAMTA1_uc001aok.3_Frame_Shift_Ins_p.Q630fs|CAMTA1_uc001aoj.2_Frame_Shift_Ins_p.Q550fs|CAMTA1_uc009vmf.2_Frame_Shift_Ins_p.Q177fs	p.Q1587fs	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	20	4966_4967	+	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)	1587			IQ 2.		A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Frame_Shift_Ins	INS	ENST00000303635.7	37	c.4759_4760insA	CCDS30576.1																																																																																				0.470	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215	
SPRR1B	6699	broad.mit.edu	37	1	153004854	153004854	+	Silent	SNP	C	C	G			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr1:153004854C>G	ENST00000307098.4	+	2	98	c.33C>G	c.(31-33)acC>acG	p.T11T	SPRR1B_ENST00000392661.3_Silent_p.T11T	NM_003125.2	NP_003116.2	P22528	SPR1B_HUMAN	small proline-rich protein 1B	11	2 X 12 AA approximate repeats.		T -> I (in dbSNP:rs3795382). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:3133554, ECO:0000269|PubMed:8388378, ECO:0000269|Ref.4}.		epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|ovary(2)|skin(2)	9	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGCCTTGCACCCCACCCCCTC	0.557																																						uc001fba.2																			0				ovary(1)	1						c.(31-33)ACC>ACG		small proline-rich protein 1B							142.0	138.0	139.0					1																	153004854		2203	4300	6503	SO:0001819	synonymous_variant	6699				keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity	g.chr1:153004854C>G	M84757	CCDS30863.1	1q21-q22	2010-06-25	2010-06-25		ENSG00000169469	ENSG00000169469			11260	protein-coding gene	gene with protein product	"""cornifin"""	182266		SPRR1		8325635, 1438308	Standard	NM_003125		Approved	GADD33	uc001fba.3	P22528	OTTHUMG00000013869	ENST00000307098.4:c.33C>G	1.37:g.153004854C>G						SPRR1B_uc009wnx.1_RNA	p.T11T	NM_003125	NP_003116	P22528	SPR1B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	97	+	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		11			1.|2 X 12 AA approximate repeats.		B2R5H7|P22529|P22530|Q5T524	Silent	SNP	ENST00000307098.4	37	c.33C>G	CCDS30863.1																																																																																				0.557	SPRR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038906.1	NM_003125	
NUP210L	91181	broad.mit.edu	37	1	154062058	154062058	+	Nonsense_Mutation	SNP	G	G	A			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr1:154062058G>A	ENST00000368559.3	-	16	2271	c.2200C>T	c.(2200-2202)Cga>Tga	p.R734*	NUP210L_ENST00000271854.3_Nonsense_Mutation_p.R734*	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	734					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TTTCCAATTCGGAATGTGAGA	0.423																																						uc001fdw.2																			0				skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11						c.(2200-2202)CGA>TGA		nucleoporin 210kDa-like isoform 1							74.0	75.0	75.0					1																	154062058		1891	4124	6015	SO:0001587	stop_gained	91181					integral to membrane		g.chr1:154062058G>A	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.2200C>T	1.37:g.154062058G>A	ENSP00000357547:p.Arg734*					NUP210L_uc009woq.2_5'UTR|NUP210L_uc010peh.1_Nonsense_Mutation_p.R734*	p.R734*	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		16	2272	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		734					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Nonsense_Mutation	SNP	ENST00000368559.3	37	c.2200C>T	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	G	39	7.522494	0.98335	.	.	ENSG00000143552	ENST00000368559;ENST00000271854	.	.	.	4.57	4.57	0.56435	.	0.150747	0.30752	N	0.008943	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	-27.8864	15.3044	0.73982	0.0:0.0:1.0:0.0	.	.	.	.	X	734	.	ENSP00000271854:R734X	R	-	1	2	NUP210L	152328682	0.996000	0.38824	0.954000	0.39281	0.941000	0.58515	4.027000	0.57239	2.363000	0.80096	0.467000	0.42956	CGA		0.423	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308	
ATP1A4	480	broad.mit.edu	37	1	160136448	160136448	+	Missense_Mutation	SNP	G	G	A	rs139315814		TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr1:160136448G>A	ENST00000368081.4	+	8	1649	c.1178G>A	c.(1177-1179)cGc>cAc	p.R393H		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	393					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ACCCAGAACCGCATGACCGTC	0.577																																						uc001fve.3																			0				ovary(2)|skin(2)	4						c.(1177-1179)CGC>CAC		Na+/K+ -ATPase alpha 4 subunit isoform 1		G	HIS/ARG	0,4406		0,0,2203	139.0	109.0	119.0		1178	4.3	1.0	1	dbSNP_134	119	1,8599	1.2+/-3.3	0,1,4299	no	missense	ATP1A4	NM_144699.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	393/1030	160136448	1,13005	2203	4300	6503	SO:0001583	missense	480				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160136448G>A	BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"""ATPases / P-type"""	14073	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-4"", ""sodium pump subunit alpha-4"", ""sodium-potassium ATPase catalytic subunit alpha-4"""	607321	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 2"""	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.1178G>A	1.37:g.160136448G>A	ENSP00000357060:p.Arg393His					ATP1A4_uc001fvf.3_RNA|ATP1A4_uc001fvg.2_5'UTR	p.R393H	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		8	1657	+	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		393			Cytoplasmic (Potential).		Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Missense_Mutation	SNP	ENST00000368081.4	37	c.1178G>A	CCDS1197.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.007747	0.93287	0.0	1.16E-4	ENSG00000132681	ENST00000368081	D	0.96300	-3.97	4.35	4.35	0.52113	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.97297	0.9116	M	0.67625	2.065	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97873	1.0287	10	0.87932	D	0	.	14.7749	0.69724	0.0:0.0:1.0:0.0	.	393	Q13733	AT1A4_HUMAN	H	393	ENSP00000357060:R393H	ENSP00000357060:R393H	R	+	2	0	ATP1A4	158403072	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.563000	0.98148	2.427000	0.82271	0.650000	0.86243	CGC		0.577	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	NM_144699	
SELP	6403	broad.mit.edu	37	1	169562857	169562857	+	Missense_Mutation	SNP	C	C	T	rs201454112	byFrequency	TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr1:169562857C>T	ENST00000263686.6	-	14	2430	c.2393G>A	c.(2392-2394)cGt>cAt	p.R798H	SELP_ENST00000367788.2_Missense_Mutation_p.R736H|SELP_ENST00000367792.2_Missense_Mutation_p.R614H|SELP_ENST00000367786.2_Missense_Mutation_p.R736H|SELP_ENST00000458599.2_Missense_Mutation_p.R614H|SELP_ENST00000367791.2_Missense_Mutation_p.R612H|SELP_ENST00000367793.2_Missense_Mutation_p.R736H|SELP_ENST00000367794.2_Missense_Mutation_p.R736H	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	798					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	TTGTCTGAAACGCTTTCTTAG	0.423													C|||	2	0.000399361	0.0	0.0014	5008	,	,		18585	0.0		0.001	False		,,,				2504	0.0					uc001ggi.3																			0				ovary(2)|skin(2)	4						c.(2392-2394)CGT>CAT		selectin P precursor	Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)						73.0	72.0	73.0					1																	169562857		2203	4300	6503	SO:0001583	missense	6403				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	g.chr1:169562857C>T	BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"""CD molecules"""	10721	protein-coding gene	gene with protein product		173610	"""selectin P (granule membrane protein 140kD, antigen CD62)"""	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.2393G>A	1.37:g.169562857C>T	ENSP00000263686:p.Arg798His					SELP_uc001ggh.2_Intron|SELP_uc009wvr.2_Missense_Mutation_p.R797H	p.R798H	NM_003005	NP_002996	P16109	LYAM3_HUMAN			14	2458	-	all_hematologic(923;0.208)		798			Cytoplasmic (Potential).		Q5R344|Q8IVD1	Missense_Mutation	SNP	ENST00000263686.6	37	c.2393G>A	CCDS1282.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	C	16.83	3.232109	0.58777	.	.	ENSG00000174175	ENST00000367795;ENST00000367790;ENST00000426706;ENST00000367789;ENST00000263686;ENST00000367793;ENST00000367794;ENST00000367792;ENST00000367791;ENST00000367788;ENST00000367786;ENST00000458599	T;T;T;T;T;T;T	0.29655	2.03;1.84;1.56;1.6;1.82;1.84;1.56	5.62	4.7	0.59300	.	0.099958	0.45361	D	0.000367	T	0.13457	0.0326	L	0.43152	1.355	0.18873	N	0.999989	D;D	0.63046	0.983;0.992	B;B	0.42653	0.394;0.363	T	0.06752	-1.0809	10	0.44086	T	0.13	-17.064	9.4639	0.38800	0.0:0.9064:0.0:0.0936	.	797;798	Q6NUL9;P16109	.;LYAM3_HUMAN	H	612;798;797;614;798;736;736;614;612;736;736;721	ENSP00000263686:R798H;ENSP00000356767:R736H;ENSP00000356768:R736H;ENSP00000356766:R614H;ENSP00000356765:R612H;ENSP00000356762:R736H;ENSP00000356760:R736H	ENSP00000263686:R798H	R	-	2	0	SELP	167829481	0.379000	0.25123	0.210000	0.23637	0.936000	0.57629	2.256000	0.43231	2.639000	0.89480	0.650000	0.86243	CGT		0.423	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	NM_003005	
FMO3	2328	broad.mit.edu	37	1	171080061	171080061	+	Silent	SNP	C	C	T			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr1:171080061C>T	ENST00000367755.4	+	6	861	c.750C>T	c.(748-750)gcC>gcT	p.A250A	FMO3_ENST00000392085.2_Silent_p.A250A|FMO3_ENST00000542847.1_Silent_p.A230A|FMO3_ENST00000538429.1_Silent_p.A187A	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	250					drug metabolic process (GO:0017144)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	amino acid binding (GO:0016597)|flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)|trimethylamine monooxygenase activity (GO:0034899)			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Almotriptan(DB00918)|Cimetidine(DB00501)|Clozapine(DB00363)|Dapsone(DB00250)|Dasatinib(DB01254)|Olanzapine(DB00334)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	TACCGACAGCCATCTCTGACT	0.468																																						uc001ghi.2																			0				skin(1)	1						c.(748-750)GCC>GCT		flavin containing monooxygenase 3							187.0	164.0	171.0					1																	171080061		2203	4300	6503	SO:0001819	synonymous_variant	2328				xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity	g.chr1:171080061C>T	BC032016	CCDS1292.1	1q24.3	2013-10-01			ENSG00000007933	ENSG00000007933	2.6.1.16		3771	protein-coding gene	gene with protein product		136132				8486388, 9417913	Standard	NM_001002294		Approved		uc001ghh.3	P31513	OTTHUMG00000035505	ENST00000367755.4:c.750C>T	1.37:g.171080061C>T						FMO3_uc001ghh.2_Silent_p.A250A|FMO3_uc010pmb.1_Silent_p.A230A|FMO3_uc010pmc.1_Silent_p.A187A	p.A250A	NM_001002294	NP_001002294	P31513	FMO3_HUMAN			6	861	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		250					B2R816|Q14854|Q8N5N5	Silent	SNP	ENST00000367755.4	37	c.750C>T	CCDS1292.1																																																																																				0.468	FMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086219.1	NM_006894	
TNN	63923	broad.mit.edu	37	1	175067712	175067712	+	Silent	SNP	C	C	T	rs200734177		TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr1:175067712C>T	ENST00000239462.4	+	9	2213	c.2100C>T	c.(2098-2100)gcC>gcT	p.A700A		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	700	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)		p.A700A(2)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GCAAGAAGGCCGACACCAAGG	0.572													C|||	1	0.000199681	0.0	0.0	5008	,	,		19838	0.001		0.0	False		,,,				2504	0.0					uc001gkl.1																			2	Substitution - coding silent(2)		urinary_tract(1)|endometrium(1)	large_intestine(5)|ovary(3)|central_nervous_system(1)	9						c.(2098-2100)GCC>GCT		tenascin N precursor							86.0	77.0	80.0					1																	175067712		2203	4300	6503	SO:0001819	synonymous_variant	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175067712C>T	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.2100C>T	1.37:g.175067712C>T						TNN_uc010pmx.1_Silent_p.A611A	p.A700A	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	9	2213	+		Breast(1374;0.000962)	700			Fibronectin type-III 5.		B9EGP3|Q5R360	Silent	SNP	ENST00000239462.4	37	c.2100C>T	CCDS30943.1																																																																																				0.572	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527	
OR2T11	127077	broad.mit.edu	37	1	248790297	248790297	+	Silent	SNP	A	A	G			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr1:248790297A>G	ENST00000330803.2	-	1	194	c.133T>C	c.(133-135)Ttg>Ctg	p.L45L		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	45						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACCTGAATCAAGAATATCATG	0.502																																						uc001ier.1																			0				lung(1)	1						c.(133-135)TTG>CTG		olfactory receptor, family 2, subfamily T,							62.0	71.0	69.0					1																	248790297		2050	4237	6287	SO:0001819	synonymous_variant	127077				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248790297A>G	BK004476	CCDS31122.1	1q44	2013-10-10	2013-10-10		ENSG00000183130	ENSG00000183130		"""GPCR / Class A : Olfactory receptors"""	19574	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 11"""				Standard	NM_001001964		Approved	OR2T11Q	uc001ier.1	Q8NH01	OTTHUMG00000040384	ENST00000330803.2:c.133T>C	1.37:g.248790297A>G							p.L45L	NM_001001964	NP_001001964	Q8NH01	O2T11_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	133	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		45			Helical; Name=1; (Potential).		Q6IEY6	Silent	SNP	ENST00000330803.2	37	c.133T>C	CCDS31122.1																																																																																				0.502	OR2T11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097134.1	NM_001001964	
PROSER2	254427	broad.mit.edu	37	10	11908649	11908649	+	Silent	SNP	G	G	A			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr10:11908649G>A	ENST00000277570.5	+	3	412	c.258G>A	c.(256-258)gtG>gtA	p.V86V	PROSER2_ENST00000474155.1_3'UTR|PROSER2-AS1_ENST00000453242.1_RNA|PROSER2-AS1_ENST00000445498.1_RNA|PROSER2_ENST00000379200.1_5'Flank	NM_153256.3	NP_694988.3	Q86WR7	PRSR2_HUMAN	proline and serine rich 2	86																	ATGGAGGAGTGTGCTGCCTCT	0.577																																						uc001ikx.2																			0				central_nervous_system(1)	1						c.(256-258)GTG>GTA		hypothetical protein LOC254427							91.0	70.0	77.0					10																	11908649		2203	4300	6503	SO:0001819	synonymous_variant	254427							g.chr10:11908649G>A	BC017269	CCDS7085.1	10p14	2014-02-19	2014-02-19	2012-12-05	ENSG00000148426	ENSG00000148426			23728	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 47"", ""proline and serine-rich protein 2"""	C10orf47		12477932	Standard	NM_153256		Approved	MGC35403	uc001ikx.3	Q86WR7	OTTHUMG00000017673	ENST00000277570.5:c.258G>A	10.37:g.11908649G>A						uc001iky.1_Intron	p.V86V	NM_153256	NP_694988	Q86WR7	CJ047_HUMAN			3	412	+			86					D3DRR8|Q5W0J9|Q5W0K0|Q5W0K1|Q5W0K2|Q6PJC8|Q8N317	Silent	SNP	ENST00000277570.5	37	c.258G>A	CCDS7085.1																																																																																				0.577	PROSER2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090189.2	NM_153256	
NPY4R	5540	broad.mit.edu	37	10	47086808	47086808	+	Missense_Mutation	SNP	T	T	A			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr10:47086808T>A	ENST00000395716.1	+	2	110	c.25T>A	c.(25-27)Ttg>Atg	p.L9M	NPY4R_ENST00000374312.1_Missense_Mutation_p.L9M			P50391	NPY4R_HUMAN	neuropeptide Y receptor Y4	9					blood circulation (GO:0008015)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|pancreatic polypeptide receptor activity (GO:0001602)|peptide binding (GO:0042277)|peptide YY receptor activity (GO:0001601)										CCTCCTGGCCTTGCTGCTCCC	0.493																																						uc001jee.2																			0				ovary(1)|skin(1)	2						c.(25-27)TTG>ATG		pancreatic polypeptide receptor 1							113.0	106.0	108.0					10																	47086808		2203	4300	6503	SO:0001583	missense	5540				blood circulation|digestion|feeding behavior	integral to plasma membrane		g.chr10:47086808T>A		CCDS73100.1	10q11.2	2013-03-26	2013-03-26	2013-03-26	ENSG00000204174	ENSG00000204174		"""GPCR / Class A : Neuropeptide receptors : Y"""	9329	protein-coding gene	gene with protein product		601790	"""pancreatic polypeptide receptor 1"""	PPYR1		9417917	Standard	NM_005972		Approved	Y4, PP1	uc001jee.3	P50391	OTTHUMG00000018108	ENST00000395716.1:c.25T>A	10.37:g.47086808T>A	ENSP00000379066:p.Leu9Met					ANXA8_uc001jed.3_Intron|PPYR1_uc009xna.2_Missense_Mutation_p.L9M	p.L9M	NM_005972	NP_005963	P50391	NPY4R_HUMAN			3	444	+			9			Extracellular (Potential).		Q13456|Q5ISU3|Q5T2X9|Q6FH06	Missense_Mutation	SNP	ENST00000395716.1	37	c.25T>A	CCDS31193.1	.	.	.	.	.	.	.	.	.	.	T	7.229	0.599020	0.13939	.	.	ENSG00000204174	ENST00000374312;ENST00000395716	T;T	0.70516	-0.49;-0.49	4.67	1.0	0.19881	.	12.234000	0.00166	N	0.000000	T	0.64204	0.2577	L	0.44542	1.39	0.09310	N	0.999993	P	0.38642	0.641	B	0.38500	0.275	T	0.50524	-0.8818	10	0.33940	T	0.23	.	6.099	0.20037	0.0:0.3187:0.0:0.6813	.	9	P50391	NPY4R_HUMAN	M	9	ENSP00000363431:L9M;ENSP00000379066:L9M	ENSP00000363431:L9M	L	+	1	2	PPYR1	46506814	0.000000	0.05858	0.264000	0.24511	0.433000	0.31745	0.200000	0.17257	0.336000	0.23639	0.533000	0.62120	TTG		0.493	NPY4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047837.1		
NPY4R	5540	broad.mit.edu	37	10	47087737	47087737	+	Silent	SNP	C	C	T			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr10:47087737C>T	ENST00000395716.1	+	2	1039	c.954C>T	c.(952-954)aaC>aaT	p.N318N	NPY4R_ENST00000374312.1_Silent_p.N318N			P50391	NPY4R_HUMAN	neuropeptide Y receptor Y4	318					blood circulation (GO:0008015)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|pancreatic polypeptide receptor activity (GO:0001602)|peptide binding (GO:0042277)|peptide YY receptor activity (GO:0001601)										CCTGCGTCAACCCATTCATCT	0.572																																						uc001jee.2																			0				ovary(1)|skin(1)	2						c.(952-954)AAC>AAT		pancreatic polypeptide receptor 1							185.0	170.0	175.0					10																	47087737		2203	4300	6503	SO:0001819	synonymous_variant	5540				blood circulation|digestion|feeding behavior	integral to plasma membrane		g.chr10:47087737C>T		CCDS73100.1	10q11.2	2013-03-26	2013-03-26	2013-03-26	ENSG00000204174	ENSG00000204174		"""GPCR / Class A : Neuropeptide receptors : Y"""	9329	protein-coding gene	gene with protein product		601790	"""pancreatic polypeptide receptor 1"""	PPYR1		9417917	Standard	NM_005972		Approved	Y4, PP1	uc001jee.3	P50391	OTTHUMG00000018108	ENST00000395716.1:c.954C>T	10.37:g.47087737C>T						ANXA8_uc001jed.3_Intron|PPYR1_uc009xna.2_Silent_p.N318N	p.N318N	NM_005972	NP_005963	P50391	NPY4R_HUMAN			3	1373	+			318			Helical; Name=7; (Potential).		Q13456|Q5ISU3|Q5T2X9|Q6FH06	Silent	SNP	ENST00000395716.1	37	c.954C>T	CCDS31193.1																																																																																				0.572	NPY4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047837.1		
ZSWIM8	23053	broad.mit.edu	37	10	75553915	75553915	+	Missense_Mutation	SNP	C	C	G			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr10:75553915C>G	ENST00000605216.1	+	13	2853	c.2636C>G	c.(2635-2637)gCa>gGa	p.A879G	ZSWIM8-AS1_ENST00000456638.2_RNA|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.A846G|ZSWIM8_ENST00000604729.1_Missense_Mutation_p.A879G|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.A879G|ZSWIM8_ENST00000431225.1_3'UTR|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.A879G	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	879							zinc ion binding (GO:0008270)										GTGAAGCTGGCATACCAGGAG	0.552																																						uc009xrl.2																			0				breast(1)	1						c.(2635-2637)GCA>GGA		hypothetical protein LOC23053							104.0	109.0	107.0					10																	75553915		2036	4205	6241	SO:0001583	missense	23053						zinc ion binding	g.chr10:75553915C>G	BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"""Zinc fingers, SWIM-type"""	23528	protein-coding gene	gene with protein product			"""KIAA0913"""	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.2636C>G	10.37:g.75553915C>G	ENSP00000474748:p.Ala879Gly					KIAA0913_uc001jve.2_Missense_Mutation_p.A879G|KIAA0913_uc001jvf.2_Missense_Mutation_p.A879G|KIAA0913_uc001jvh.2_RNA|KIAA0913_uc001jvi.2_Missense_Mutation_p.A302G|KIAA0913_uc010qkr.1_Missense_Mutation_p.A302G|KIAA0913_uc001jvj.2_Missense_Mutation_p.A302G	p.A879G	NM_015037	NP_055852	A7E2V4	K0913_HUMAN			13	2668	+	Prostate(51;0.0112)		879					B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Missense_Mutation	SNP	ENST00000605216.1	37	c.2636C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.1|25.1	4.604337|4.604337	0.87157|0.87157	.|.	.|.	ENSG00000214655|ENSG00000214655	ENST00000398706|ENST00000431225;ENST00000412198;ENST00000425051	T|.	0.54675|.	0.56|.	5.27|5.27	5.27|5.27	0.74061|0.74061	.|.	0.000000|.	0.64402|.	U|.	0.000005|.	T|T	0.78136|0.78136	0.4236|0.4236	M|M	0.78049|0.78049	2.395|2.395	0.58432|0.58432	D|D	0.999998|0.999998	P;D;P;P|.	0.67145|.	0.666;0.996;0.666;0.666|.	B;D;B;B|.	0.75484|.	0.139;0.986;0.139;0.139|.	T|T	0.77699|0.77699	-0.2490|-0.2490	10|5	0.38643|.	T|.	0.18|.	-1.3022|-1.3022	19.0761|19.0761	0.93163|0.93163	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	879;879;879;879|.	A7E2V4;A7E2V4-3;A7E2V4-5;A7E2V4-4|.	K0913_HUMAN;.;.;.|.	G|D	879|376;149;58	ENSP00000381693:A879G|.	ENSP00000381693:A879G|.	A|H	+|+	2|1	0|0	KIAA0913|KIAA0913	75223921|75223921	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.773000|5.773000	0.68898|0.68898	2.751000|2.751000	0.94390|0.94390	0.650000|0.650000	0.86243|0.86243	GCA|CAT		0.552	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468545.1	NM_001242487	
EBF3	253738	broad.mit.edu	37	10	131755521	131755521	+	Splice_Site	SNP	C	C	G			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr10:131755521C>G	ENST00000355311.5	-	6	627		c.e6+1		EBF3_ENST00000368648.3_Splice_Site			Q9H4W6	COE3_HUMAN	early B-cell factor 3						multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		GTCATCCTTACCTGTCAATGA	0.423																																						uc001lki.1																			0				central_nervous_system(1)|pancreas(1)	2						c.e6+1		early B-cell factor 3							145.0	134.0	138.0					10																	131755521		2203	4300	6503	SO:0001630	splice_region_variant	253738				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding	g.chr10:131755521C>G		CCDS31314.1	10q26.3	2007-03-30			ENSG00000108001	ENSG00000108001			19087	protein-coding gene	gene with protein product		607407				12355068	Standard	NM_001005463		Approved	COE3, DKFZp667B0210	uc001lki.2	Q9H4W6	OTTHUMG00000019265	ENST00000355311.5:c.554+1G>C	10.37:g.131755521C>G							p.R185_splice	NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.00513)	6	613	-		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)						A0AUY1|Q5T6H9|Q9H4W5	Splice_Site	SNP	ENST00000355311.5	37	c.554_splice		.	.	.	.	.	.	.	.	.	.	C	17.91	3.504793	0.64410	.	.	ENSG00000108001	ENST00000355311;ENST00000368648	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3932	0.98965	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EBF3	131645511	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.767000	0.85331	2.824000	0.97209	0.655000	0.94253	.		0.423	EBF3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051015.2	NM_001005463	Intron
IFITM1	8519	broad.mit.edu	37	11	314253	314253	+	Missense_Mutation	SNP	A	A	G	rs201402251		TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr11:314253A>G	ENST00000408968.3	+	1	401	c.83A>G	c.(82-84)cAc>cGc	p.H28R	IFITM1_ENST00000528780.1_Missense_Mutation_p.H28R|IFITM1_ENST00000328221.5_Missense_Mutation_p.H28R	NM_003641.3	NP_003632	P13164	IFM1_HUMAN	interferon induced transmembrane protein 1	28					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|intracellular signal transduction (GO:0035556)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral genome replication (GO:0045071)|ossification (GO:0001503)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of immune response (GO:0050776)|response to interferon-alpha (GO:0035455)|response to interferon-beta (GO:0035456)|response to interferon-gamma (GO:0034341)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor signaling protein activity (GO:0005057)			large_intestine(1)|lung(3)	4		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		ATCAACATCCACAGCGAGACC	0.582																																						uc001loy.3																			0					0						c.(82-84)CAC>CGC		interferon induced transmembrane protein 1							114.0	120.0	118.0					11																	314253		2043	4176	6219	SO:0001583	missense	8519				negative regulation of cell proliferation|regulation of immune response|response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane	protein binding|receptor signaling protein activity	g.chr11:314253A>G	J04164	CCDS41584.1	11p15.5	2012-03-15	2012-03-13		ENSG00000185885	ENSG00000185885		"""CD molecules"""	5412	protein-coding gene	gene with protein product	"""interferon-induced transmembrane protein 1"""	604456	"""interferon induced transmembrane protein 1 (9-27)"""	IFI17		7559564	Standard	NM_003641		Approved	9-27, CD225	uc001loy.4	P13164		ENST00000408968.3:c.83A>G	11.37:g.314253A>G	ENSP00000386187:p.His28Arg						p.H28R	NM_003641	NP_003632	P13164	IFM1_HUMAN		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)	1	263	+		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	28			Extracellular (Potential).		Q15322|Q53XZ0	Missense_Mutation	SNP	ENST00000408968.3	37	c.83A>G	CCDS41584.1	.	.	.	.	.	.	.	.	.	.	A	0.021	-1.432268	0.01108	.	.	ENSG00000185885	ENST00000528780;ENST00000328221;ENST00000408968;ENST00000452428	D;D;D	0.85013	-1.93;-1.93;-1.93	3.14	-6.28	0.02020	.	0.896444	0.09111	N	0.847118	T	0.63082	0.2481	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.52881	-0.8516	10	0.13108	T	0.6	.	7.7417	0.28845	0.1721:0.4097:0.4181:0.0	.	28	P13164	IFM1_HUMAN	R	28;28;28;33	ENSP00000437057:H28R;ENSP00000330825:H28R;ENSP00000386187:H28R	ENSP00000330825:H28R	H	+	2	0	IFITM1	304253	0.000000	0.05858	0.001000	0.08648	0.063000	0.16089	-2.626000	0.00874	-2.029000	0.00930	0.172000	0.16884	CAC		0.582	IFITM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383595.1	NM_003641	
ZNF215	7762	broad.mit.edu	37	11	6977376	6977376	+	Nonsense_Mutation	SNP	C	C	T	rs368370827		TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr11:6977376C>T	ENST00000278319.5	+	7	1756	c.1168C>T	c.(1168-1170)Cga>Tga	p.R390*	ZNF215_ENST00000529903.1_Intron|ZNF215_ENST00000414517.2_Nonsense_Mutation_p.R390*	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	390					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		AGCCTTCTGCCGAAGTTCATC	0.393																																						uc001mey.2																			0					0						c.(1168-1170)CGA>TGA		zinc finger protein 215		C	stop/ARG	0,4402		0,0,2201	72.0	70.0	71.0		1168	0.6	0.8	11		71	2,8590	2.2+/-6.3	0,2,4294	no	stop-gained	ZNF215	NM_013250.2		0,2,6495	TT,TC,CC		0.0233,0.0,0.0154		390/518	6977376	2,12992	2201	4296	6497	SO:0001587	stop_gained	7762				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:6977376C>T	AF056618	CCDS7775.1	11p15.4	2013-01-09			ENSG00000149054	ENSG00000149054		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13007	protein-coding gene	gene with protein product		605016					Standard	XM_005253130		Approved	ZKSCAN11, ZSCAN43	uc001mey.3	Q9UL58	OTTHUMG00000165507	ENST00000278319.5:c.1168C>T	11.37:g.6977376C>T	ENSP00000278319:p.Arg390*					ZNF215_uc010raw.1_3'UTR|ZNF215_uc010rax.1_Nonsense_Mutation_p.R152*|ZNF215_uc001mez.1_Intron	p.R390*	NM_013250	NP_037382	Q9UL58	ZN215_HUMAN		Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)	7	1756	+			390			C2H2-type 1.		Q96C84	Nonsense_Mutation	SNP	ENST00000278319.5	37	c.1168C>T	CCDS7775.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657686	0.88154	0.0	2.33E-4	ENSG00000149054	ENST00000278319;ENST00000414517	.	.	.	4.85	0.573	0.17363	.	0.000000	0.40640	N	0.001056	.	.	.	.	.	.	0.19300	N	0.999973	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.4934	4.6827	0.12743	0.3184:0.5044:0.0:0.1772	.	.	.	.	X	390	.	.	R	+	1	2	ZNF215	6933952	0.000000	0.05858	0.807000	0.32361	0.164000	0.22412	-0.174000	0.09839	0.017000	0.15025	-0.274000	0.10170	CGA		0.393	ZNF215-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384550.1		
OR5P2	120065	broad.mit.edu	37	11	7818191	7818191	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr11:7818191G>A	ENST00000329434.2	-	1	329	c.299C>T	c.(298-300)gCg>gTg	p.A100V	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	100						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AAAGAAAGCCGCTGAACCAAG	0.483																																						uc001mfp.1																			0				ovary(2)|skin(2)|central_nervous_system(1)	5						c.(298-300)GCG>GTG		olfactory receptor, family 5, subfamily P,							99.0	116.0	110.0					11																	7818191		2104	4292	6396	SO:0001583	missense	120065				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7818191G>A	AF173006	CCDS7782.1	11p15.4	2012-08-09			ENSG00000183303	ENSG00000183303		"""GPCR / Class A : Olfactory receptors"""	14783	protein-coding gene	gene with protein product							Standard	NM_153444		Approved	JCG3	uc001mfp.1	Q8WZ92	OTTHUMG00000165668	ENST00000329434.2:c.299C>T	11.37:g.7818191G>A	ENSP00000331823:p.Ala100Val						p.A100V	NM_153444	NP_703145	Q8WZ92	OR5P2_HUMAN		Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	299	-			100			Helical; Name=3; (Potential).		Q3MIS8	Missense_Mutation	SNP	ENST00000329434.2	37	c.299C>T	CCDS7782.1	.	.	.	.	.	.	.	.	.	.	G	1.595	-0.528102	0.04112	.	.	ENSG00000183303	ENST00000329434	T	0.00376	7.7	5.5	-3.17	0.05202	GPCR, rhodopsin-like superfamily (1);	0.679936	0.14063	N	0.343953	T	0.00109	0.0003	N	0.01289	-0.905	0.09310	N	1	B	0.15473	0.013	B	0.10450	0.005	T	0.21690	-1.0238	10	0.41790	T	0.15	0.4364	6.3005	0.21109	0.4743:0.2502:0.2755:0.0	.	100	Q8WZ92	OR5P2_HUMAN	V	100	ENSP00000331823:A100V	ENSP00000331823:A100V	A	-	2	0	OR5P2	7774767	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.927000	0.03984	-0.349000	0.08274	0.555000	0.69702	GCG		0.483	OR5P2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385696.1	NM_153444	
OR5I1	10798	broad.mit.edu	37	11	55703444	55703444	+	Missense_Mutation	SNP	G	G	A	rs565054095		TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr11:55703444G>A	ENST00000301532.3	-	1	432	c.433C>T	c.(433-435)Cgg>Tgg	p.R145W		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	145					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R145W(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						ACAATCAACCGCATACAGATG	0.428													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19540	0.0		0.0	False		,,,				2504	0.0					uc010ris.1																			1	Substitution - Missense(1)		large_intestine(1)	ovary(1)	1						c.(433-435)CGG>TGG		olfactory receptor, family 5, subfamily I,							81.0	85.0	83.0					11																	55703444		2201	4296	6497	SO:0001583	missense	10798				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55703444G>A	BC069093	CCDS7949.1	11q11	2012-08-09			ENSG00000167825	ENSG00000167825		"""GPCR / Class A : Olfactory receptors"""	8347	protein-coding gene	gene with protein product		608496				9017400, 9787077	Standard	NM_006637		Approved	HSOlf1, OLF1	uc010ris.2	Q13606	OTTHUMG00000166821	ENST00000301532.3:c.433C>T	11.37:g.55703444G>A	ENSP00000301532:p.Arg145Trp						p.R145W	NM_006637	NP_006628	Q13606	OR5I1_HUMAN			1	433	-			145			Helical; Name=4; (Potential).		Q6IEU4	Missense_Mutation	SNP	ENST00000301532.3	37	c.433C>T	CCDS7949.1	.	.	.	.	.	.	.	.	.	.	G	4.275	0.050126	0.08243	.	.	ENSG00000167825	ENST00000301532	T	0.00130	8.69	4.94	-5.59	0.02505	GPCR, rhodopsin-like superfamily (1);	0.678027	0.13048	N	0.417906	T	0.00073	0.0002	N	0.13352	0.335	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.11792	-1.0573	10	0.36615	T	0.2	.	8.6427	0.33987	0.3803:0.1249:0.4947:0.0	.	145	Q13606	OR5I1_HUMAN	W	145	ENSP00000301532:R145W	ENSP00000301532:R145W	R	-	1	2	OR5I1	55460020	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-6.454000	0.00065	-1.036000	0.03287	-1.239000	0.01543	CGG		0.428	OR5I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391528.1	NM_006637	
FGD4	121512	broad.mit.edu	37	12	32763711	32763711	+	Splice_Site	SNP	A	A	G			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr12:32763711A>G	ENST00000427716.2	+	9	1558	c.1134A>G	c.(1132-1134)aaA>aaG	p.K378K	FGD4_ENST00000381025.3_Splice_Site_p.K130K|FGD4_ENST00000531134.1_Splice_Site_p.K463K|FGD4_ENST00000525053.1_Splice_Site_p.K490K|FGD4_ENST00000534526.2_Splice_Site_p.K515K|FGD4_ENST00000546442.1_Splice_Site_p.K285K|FGD4_ENST00000266482.3_Splice_Site_p.K130K	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	378	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|microspike assembly (GO:0030035)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					CCCATTTAGAATCACTTGAAA	0.343																																						uc001rkz.2																			0				ovary(2)|central_nervous_system(1)	3						c.(1132-1134)AAA>AAG		FYVE, RhoGEF and PH domain containing 4							59.0	62.0	61.0					12																	32763711		2203	4297	6500	SO:0001630	splice_region_variant	121512				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr12:32763711A>G	AK057294	CCDS8727.1	12p11.1	2014-09-17	2004-08-24		ENSG00000139132	ENSG00000139132		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19125	protein-coding gene	gene with protein product		611104	"""FGD1 family, member 4"""			11527409	Standard	NM_139241		Approved	FRABP, frabin, ZFYVE6, CMT4H	uc001rkz.3	Q96M96	OTTHUMG00000137374	ENST00000427716.2:c.1133-1A>G	12.37:g.32763711A>G						FGD4_uc001rlc.2_Silent_p.K463K|FGD4_uc001rky.2_Silent_p.K130K|FGD4_uc001rla.2_Silent_p.K34K|FGD4_uc010ske.1_Silent_p.K490K|FGD4_uc001rlb.1_RNA	p.K378K	NM_139241	NP_640334	Q96M96	FGD4_HUMAN			9	1611	+	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		378			DH.		Q6ULS2|Q8TCP6	Silent	SNP	ENST00000427716.2	37	c.1134A>G	CCDS8727.1																																																																																				0.343	FGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268017.1	NM_139241	Silent
KRT75	9119	broad.mit.edu	37	12	52818468	52818468	+	Missense_Mutation	SNP	C	C	T	rs201563619		TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr12:52818468C>T	ENST00000252245.5	-	9	1709	c.1489G>A	c.(1489-1491)Ggt>Agt	p.G497S	RP11-1020M18.10_ENST00000548135.1_RNA	NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	497	Tail.				hematopoietic progenitor cell differentiation (GO:0002244)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		CTGCCCCCACCGAGGCCCAGG	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		17682	0.0		0.001	False		,,,				2504	0.0					uc001saj.2																			0					0						c.(1489-1491)GGT>AGT		keratin 75							61.0	66.0	65.0					12																	52818468		2203	4300	6503	SO:0001583	missense	9119					keratin filament	structural molecule activity	g.chr12:52818468C>T	Y19212	CCDS8827.1	12q13.13	2013-06-25			ENSG00000170454	ENSG00000170454		"""-"", ""Intermediate filaments type II, keratins (basic)"""	24431	protein-coding gene	gene with protein product		609025				9856802, 10692104, 16831889	Standard	NM_004693		Approved	K6HF	uc001saj.2	O95678	OTTHUMG00000169592	ENST00000252245.5:c.1489G>A	12.37:g.52818468C>T	ENSP00000252245:p.Gly497Ser						p.G497S	NM_004693	NP_004684	O95678	K2C75_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.192)	9	1511	-			497			Tail.		B4DQU4|Q9NSA9	Missense_Mutation	SNP	ENST00000252245.5	37	c.1489G>A	CCDS8827.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	0.283	-0.985390	0.02180	.	.	ENSG00000170454	ENST00000252245	D	0.86865	-2.18	4.88	-3.48	0.04739	.	0.860418	0.09901	N	0.741082	T	0.77405	0.4125	L	0.58101	1.795	0.09310	N	1	B	0.19200	0.034	B	0.06405	0.002	T	0.61734	-0.7002	10	0.02654	T	1	.	5.8159	0.18492	0.1348:0.3326:0.0:0.5326	.	497	O95678	K2C75_HUMAN	S	497	ENSP00000252245:G497S	ENSP00000252245:G497S	G	-	1	0	KRT75	51104735	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	-1.026000	0.03596	-1.041000	0.03266	0.591000	0.81541	GGT		0.622	KRT75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404968.1	NM_004693	
KRT6B	3854	broad.mit.edu	37	12	52841572	52841572	+	Missense_Mutation	SNP	C	C	T	rs60627726		TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr12:52841572C>T	ENST00000252252.3	-	7	1461	c.1414G>A	c.(1414-1416)Gag>Aag	p.E472K		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	472	Coil 2.|Rod.		E -> K (in PC4; dbSNP:rs60627726). {ECO:0000269|PubMed:9618173}.		ectoderm development (GO:0007398)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		CTGCACTCCTCGCCCTCCAGC	0.597																																						uc001sak.2																			0				ovary(2)	2	GRCh37	CM981147	KRT6B	M	rs60627726	c.(1414-1416)GAG>AAG		keratin 6B							107.0	98.0	101.0					12																	52841572		2203	4300	6503	SO:0001583	missense	3854				ectoderm development	keratin filament	structural constituent of cytoskeleton	g.chr12:52841572C>T	BC034535	CCDS8828.1	12q13.13	2013-01-16	2004-08-11		ENSG00000185479	ENSG00000185479		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6444	protein-coding gene	gene with protein product		148042	"""keratin-like 1 (a type II keratin sequence)"""	KRTL1		1713141, 16831889	Standard	NM_005555		Approved		uc001sak.3	P04259	OTTHUMG00000169593	ENST00000252252.3:c.1414G>A	12.37:g.52841572C>T	ENSP00000252252:p.Glu472Lys						p.E472K	NM_005555	NP_005546	P04259	K2C6B_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.083)	7	1462	-			472			Rod.|Coil 2.		P48669	Missense_Mutation	SNP	ENST00000252252.3	37	c.1414G>A	CCDS8828.1	.	.	.	.	.	.	.	.	.	.	C	16.16	3.043447	0.55003	.	.	ENSG00000185479	ENST00000252252;ENST00000544607	D	0.93366	-3.21	2.75	0.877	0.19145	Filament (1);	0.000000	0.64402	D	0.000014	D	0.96700	0.8923	H	0.94423	3.535	0.40352	A	0.97914	D	0.76494	0.999	D	0.67900	0.954	D	0.96764	0.9563	9	0.87932	D	0	.	8.9635	0.35863	0.0:0.8064:0.0:0.1936	rs60627726	472	P04259	K2C6B_HUMAN	K	472;432	ENSP00000252252:E472K	ENSP00000252252:E472K	E	-	1	0	KRT6B	51127839	1.000000	0.71417	0.969000	0.41365	0.365000	0.29674	4.517000	0.60503	0.238000	0.21222	0.305000	0.20034	GAG		0.597	KRT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404969.1	NM_005555	
TMTC3	160418	broad.mit.edu	37	12	88566417	88566417	+	Frame_Shift_Del	DEL	T	T	-			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr12:88566417delT	ENST00000266712.6	+	8	1314	c.1094delT	c.(1093-1095)cttfs	p.L365fs		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	365					bud outgrowth involved in lung branching (GO:0060447)|lung alveolus development (GO:0048286)|muscle fiber development (GO:0048747)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						GCATCGAACCTTTTTTTTCCA	0.313																																						uc001tau.2																			0				skin(1)	1						c.(1093-1095)CTTfs		transmembrane and tetratricopeptide repeat				18,4246		6,6,2120	135.0	127.0	130.0			5.5	1.0	12		131	19,8235		6,7,4114	no	frameshift	TMTC3	NM_181783.3		12,13,6234	A1A1,A1R,RR		0.2302,0.4221,0.2956			88566417	37,12481	2203	4299	6502	SO:0001589	frameshift_variant	160418					integral to membrane	binding	g.chr12:88566417delT		CCDS9032.1	12q21.32	2014-09-04			ENSG00000139324	ENSG00000139324		"""Tetratricopeptide (TTC) repeat domain containing"""	26899	protein-coding gene	gene with protein product							Standard	NM_181783		Approved	FLJ90492, SMILE	uc001tau.3	Q6ZXV5	OTTHUMG00000169887	ENST00000266712.6:c.1094delT	12.37:g.88566417delT	ENSP00000266712:p.Leu365fs					TMTC3_uc009zsm.2_RNA	p.L365fs	NM_181783	NP_861448	Q6ZXV5	TMTC3_HUMAN			8	1314	+			365			Helical; (Potential).		Q5CZ86|Q5H9T6|Q68DQ6|Q68DX0|Q7Z332|Q8NC50	Frame_Shift_Del	DEL	ENST00000266712.6	37	c.1094delT	CCDS9032.1																																																																																				0.313	TMTC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406421.1	NM_181783	
ANO4	121601	broad.mit.edu	37	12	101295584	101295584	+	Silent	SNP	A	A	G			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr12:101295584A>G	ENST00000392977.3	+	2	231	c.21A>G	c.(19-21)ggA>ggG	p.G7G	ANO4_ENST00000538618.1_Silent_p.G173G|ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000392979.3_Silent_p.G7G			Q32M45	ANO4_HUMAN	anoctamin 4	7					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GCTCTTCTGGAATCACTAATG	0.522										HNSCC(74;0.22)																												uc010svm.1																			0				ovary(4)|skin(2)	6						c.(19-21)GGA>GGG		anoctamin 4							105.0	102.0	103.0					12																	101295584		2203	4300	6503	SO:0001819	synonymous_variant	121601					chloride channel complex	chloride channel activity	g.chr12:101295584A>G	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.21A>G	12.37:g.101295584A>G		HNSCC(74;0.22)				ANO4_uc010svl.1_RNA|ANO4_uc001thw.2_Silent_p.G7G|ANO4_uc001thx.2_Silent_p.G7G	p.G7G	NM_178826	NP_849148	Q32M45	ANO4_HUMAN			2	593	+			7			Extracellular (Potential).		Q8NAJ0|Q8NB39|Q8NB53	Silent	SNP	ENST00000392977.3	37	c.21A>G																																																																																					0.522	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826	
ACACB	32	broad.mit.edu	37	12	109629703	109629703	+	Missense_Mutation	SNP	G	G	A	rs539307430		TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr12:109629703G>A	ENST00000338432.7	+	15	2466	c.2347G>A	c.(2347-2349)Gcc>Acc	p.A783T	ACACB_ENST00000377854.5_Missense_Mutation_p.A783T|ACACB_ENST00000377848.3_Missense_Mutation_p.A783T			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	783					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	CTTGAACGTGGCCGATGCGAT	0.532																																						uc001tob.2																			0				ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8						c.(2347-2349)GCC>ACC		acetyl-Coenzyme A carboxylase beta	Biotin(DB00121)						140.0	117.0	125.0					12																	109629703		2203	4300	6503	SO:0001583	missense	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109629703G>A	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.2347G>A	12.37:g.109629703G>A	ENSP00000341044:p.Ala783Thr					ACACB_uc001toc.2_Missense_Mutation_p.A783T	p.A783T	NM_001093	NP_001084	O00763	ACACB_HUMAN			15	2466	+			783					A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	c.2347G>A	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	G	36	5.826182	0.96996	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854	D;D;D	0.96491	-4.03;-4.03;-3.96	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.96043	0.8711	M	0.80422	2.495	0.80722	D	1	P	0.35307	0.494	B	0.34138	0.176	D	0.96334	0.9246	10	0.87932	D	0	.	18.0366	0.89305	0.0:0.0:1.0:0.0	.	783	O00763	ACACB_HUMAN	T	783	ENSP00000341044:A783T;ENSP00000367079:A783T;ENSP00000367085:A783T	ENSP00000341044:A783T	A	+	1	0	ACACB	108114086	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	9.868000	0.99621	2.501000	0.84356	0.585000	0.79938	GCC		0.532	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093	
VPS33A	65082	broad.mit.edu	37	12	122734578	122734578	+	Missense_Mutation	SNP	C	C	G			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr12:122734578C>G	ENST00000267199.4	-	6	727	c.615G>C	c.(613-615)atG>atC	p.M205I	RP11-512M8.5_ENST00000535844.1_Missense_Mutation_p.M166I|VPS33A_ENST00000542310.1_5'Flank	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	205					lysosome localization (GO:0032418)|melanosome localization (GO:0032400)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of developmental pigmentation (GO:0048070)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		TCCTGATCATCATATTGGCCA	0.383																																						uc001ucd.2																			0				skin(1)	1						c.(613-615)ATG>ATC		vacuolar protein sorting 33A							89.0	79.0	82.0					12																	122734578		2203	4300	6503	SO:0001583	missense	65082				lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding	g.chr12:122734578C>G	AK026048	CCDS9231.1	12q24.31	2008-06-23	2006-04-04		ENSG00000139719	ENSG00000139719			18179	protein-coding gene	gene with protein product		610034	"""vacuolar protein sorting 33A (yeast)"""			11250079	Standard	NM_022916		Approved		uc001ucd.3	Q96AX1	OTTHUMG00000168920	ENST00000267199.4:c.615G>C	12.37:g.122734578C>G	ENSP00000267199:p.Met205Ile					VPS33A_uc001ucc.2_RNA	p.M205I	NM_022916	NP_075067	Q96AX1	VP33A_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)	6	728	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		205					Q547V4|Q9H5Q0	Missense_Mutation	SNP	ENST00000267199.4	37	c.615G>C	CCDS9231.1	.	.	.	.	.	.	.	.	.	.	C	19.53	3.844087	0.71488	.	.	ENSG00000139719	ENST00000267199;ENST00000536212	T;T	0.76578	-1.03;-1.03	5.37	5.37	0.77165	.	0.118379	0.85682	D	0.000000	T	0.73606	0.3608	L	0.43646	1.37	0.80722	D	1	B	0.32862	0.387	B	0.35039	0.194	T	0.70178	-0.4943	10	0.27082	T	0.32	-43.0151	19.0986	0.93265	0.0:1.0:0.0:0.0	.	205	Q96AX1	VP33A_HUMAN	I	205;10	ENSP00000267199:M205I;ENSP00000439255:M10I	ENSP00000446319:M166I	M	-	3	0	VPS33A	121300531	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.738000	0.84966	2.524000	0.85096	0.655000	0.94253	ATG		0.383	VPS33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401607.2		
PARP4	143	broad.mit.edu	37	13	25052379	25052379	+	Missense_Mutation	SNP	T	T	C			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr13:25052379T>C	ENST00000381989.3	-	13	1589	c.1484A>G	c.(1483-1485)gAt>gGt	p.D495G		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	495	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		TCTGGTGCCATCTGTCTCTCC	0.438																																						uc001upl.2																			0				ovary(3)|skin(1)	4						c.(1483-1485)GAT>GGT		poly (ADP-ribose) polymerase family, member 4							117.0	93.0	101.0					13																	25052379		2203	4300	6503	SO:0001583	missense	143				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity	g.chr13:25052379T>C	AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"""Poly (ADP-ribose) polymerases"""	271	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 5C"""	607519	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"""	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.1484A>G	13.37:g.25052379T>C	ENSP00000371419:p.Asp495Gly					PARP4_uc010tdc.1_Missense_Mutation_p.D495G	p.D495G	NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)	13	1590	-		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)	495			PARP catalytic.		O75903|Q14682|Q5QNZ9|Q9H1M6	Missense_Mutation	SNP	ENST00000381989.3	37	c.1484A>G	CCDS9307.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.956263	0.73902	.	.	ENSG00000102699	ENST00000381989	T	0.14391	2.51	3.91	3.91	0.45181	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.131107	0.49916	D	0.000126	T	0.25754	0.0627	L	0.60012	1.86	0.44937	D	0.997951	D	0.55385	0.971	P	0.56865	0.808	T	0.01262	-1.1402	10	0.62326	D	0.03	-12.1268	10.7988	0.46476	0.0:0.0:0.0:1.0	.	495	Q9UKK3	PARP4_HUMAN	G	495	ENSP00000371419:D495G	ENSP00000371419:D495G	D	-	2	0	PARP4	23950379	1.000000	0.71417	0.961000	0.40146	0.991000	0.79684	4.978000	0.63799	1.652000	0.50683	0.524000	0.50904	GAT		0.438	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437	
NBEA	26960	broad.mit.edu	37	13	36124652	36124652	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr13:36124652G>A	ENST00000400445.3	+	42	7158	c.6624G>A	c.(6622-6624)atG>atA	p.M2208I	NBEA_ENST00000379939.2_Missense_Mutation_p.M2205I|NBEA_ENST00000310336.4_Missense_Mutation_p.M2208I|NBEA_ENST00000537702.1_Start_Codon_SNP_p.M1I|NBEA_ENST00000540320.1_Missense_Mutation_p.M2208I	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2208					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GAAAATGGATGTTCAGCGAGA	0.363																																						uc001uvb.2																			0				ovary(9)|large_intestine(2)	11						c.(6622-6624)ATG>ATA		neurobeachin							105.0	98.0	100.0					13																	36124652		1848	4105	5953	SO:0001583	missense	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:36124652G>A	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.6624G>A	13.37:g.36124652G>A	ENSP00000383295:p.Met2208Ile					NBEA_uc010abi.2_Missense_Mutation_p.M864I|NBEA_uc010tee.1_Missense_Mutation_p.M1I|NBEA_uc010tef.1_Missense_Mutation_p.M1I|NBEA_uc010teg.1_Missense_Mutation_p.M1I	p.M2208I	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	42	6830	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	2208					B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	37	c.6624G>A	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.228265	0.79576	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518;ENST00000543274;ENST00000537702	T;T;T;T;T	0.52754	0.8;0.8;0.8;0.8;0.65	5.88	5.88	0.94601	PH-BEACH domain (1);	0.000000	0.85682	D	0.000000	T	0.39911	0.1096	L	0.29908	0.895	0.80722	D	1	B;B	0.13145	0.007;0.001	B;B	0.04013	0.001;0.0	T	0.12837	-1.0532	10	0.22109	T	0.4	.	20.2279	0.98344	0.0:0.0:1.0:0.0	.	2208;2205	Q8NFP9;Q5T321	NBEA_HUMAN;.	I	2208;2208;2205;2208;835;1;1	ENSP00000440951:M2208I;ENSP00000383295:M2208I;ENSP00000369271:M2205I;ENSP00000308534:M2208I;ENSP00000440233:M1I	ENSP00000308534:M2208I	M	+	3	0	NBEA	35022652	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.756000	0.98918	2.778000	0.95560	0.655000	0.94253	ATG		0.363	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678	
SLITRK1	114798	broad.mit.edu	37	13	84455093	84455093	+	Missense_Mutation	SNP	G	G	C			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr13:84455093G>C	ENST00000377084.2	-	1	1435	c.550C>G	c.(550-552)Ctc>Gtc	p.L184V		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	184					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TTACCCCGGAGGTCGAGGTGG	0.532																																						uc001vlk.2																			0				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						c.(550-552)CTC>GTC		slit and trk like 1 protein precursor							88.0	88.0	88.0					13																	84455093		2203	4300	6503	SO:0001583	missense	114798					integral to membrane		g.chr13:84455093G>C	AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.550C>G	13.37:g.84455093G>C	ENSP00000366288:p.Leu184Val						p.L184V	NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN		GBM - Glioblastoma multiforme(99;0.07)	1	1436	-	Medulloblastoma(90;0.18)	Breast(118;0.212)	184			Extracellular (Potential).|LRR 6.		Q5U5I6|Q96SF9	Missense_Mutation	SNP	ENST00000377084.2	37	c.550C>G	CCDS9464.1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.093478	0.56075	.	.	ENSG00000178235	ENST00000377084	T	0.74842	-0.88	4.45	4.45	0.53987	.	0.000000	0.64402	D	0.000001	D	0.86628	0.5978	M	0.83118	2.625	0.58432	D	0.999999	D	0.89917	1.0	D	0.75484	0.986	D	0.88871	0.3333	10	0.72032	D	0.01	-9.7956	15.8282	0.78730	0.0:0.0:1.0:0.0	.	184	Q96PX8	SLIK1_HUMAN	V	184	ENSP00000366288:L184V	ENSP00000366288:L184V	L	-	1	0	SLITRK1	83353094	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.714000	0.84703	2.310000	0.77875	0.561000	0.74099	CTC		0.532	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910	
NALCN	259232	broad.mit.edu	37	13	101707744	101707744	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr13:101707744G>A	ENST00000251127.6	-	44	5201	c.5120C>T	c.(5119-5121)aCt>aTt	p.T1707I	NALCN-AS1_ENST00000457843.1_RNA	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1707					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)					AGCCGCGTCAGTCATGGGGTT	0.507																																						uc001vox.1																			0				ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16						c.(5119-5121)ACT>ATT		voltage gated channel like 1							195.0	179.0	184.0					13																	101707744		2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101707744G>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.5120C>T	13.37:g.101707744G>A	ENSP00000251127:p.Thr1707Ile						p.T1707I	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN			44	5309	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		1707			Cytoplasmic (Potential).		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.5120C>T	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	G	17.26	3.343444	0.61073	.	.	ENSG00000102452	ENST00000251127	D	0.97642	-4.47	5.42	5.42	0.78866	.	0.216274	0.47852	D	0.000215	D	0.92485	0.7614	N	0.08118	0	0.80722	D	1	B	0.19583	0.037	B	0.18263	0.021	D	0.88158	0.2855	10	0.33940	T	0.23	.	19.2055	0.93728	0.0:0.0:1.0:0.0	.	1707	Q8IZF0	NALCN_HUMAN	I	1707	ENSP00000251127:T1707I	ENSP00000251127:T1707I	T	-	2	0	NALCN	100505745	1.000000	0.71417	0.942000	0.38095	0.979000	0.70002	4.825000	0.62708	2.545000	0.85829	0.655000	0.94253	ACT		0.507	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867	
OR4M1	441670	broad.mit.edu	37	14	20248846	20248846	+	Missense_Mutation	SNP	G	G	A	rs143164519	byFrequency	TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr14:20248846G>A	ENST00000315957.4	+	1	446	c.365G>A	c.(364-366)cGc>cAc	p.R122H		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GCCTATGACCGCTATGCTGCT	0.502													.|||	5	0.000998403	0.0	0.0	5008	,	,		28206	0.001		0.0	False		,,,				2504	0.0041					uc010tku.1																			0					0						c.(364-366)CGC>CAC		olfactory receptor, family 4, subfamily M,							239.0	250.0	246.0					14																	20248846		2203	4300	6503	SO:0001583	missense	441670				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20248846G>A		CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"""GPCR / Class A : Olfactory receptors"""	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.365G>A	14.37:g.20248846G>A	ENSP00000319654:p.Arg122His						p.R122H	NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	365	+	all_cancers(95;0.00108)		122			Cytoplasmic (Potential).		B9EH18|Q6IFA3	Missense_Mutation	SNP	ENST00000315957.4	37	c.365G>A	CCDS32021.1	.	.	.	.	.	.	.	.	.	.	.	16.67	3.187700	0.57909	.	.	ENSG00000176299	ENST00000315957	T	0.77489	-1.1	4.33	3.43	0.39272	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000154	T	0.77651	0.4162	M	0.89353	3.025	0.33808	D	0.627452	P	0.51537	0.946	B	0.38842	0.283	D	0.85754	0.1345	10	0.87932	D	0	-4.3778	10.0424	0.42166	0.1:0.0:0.9:0.0	.	122	Q8NGD0	OR4M1_HUMAN	H	122	ENSP00000319654:R122H	ENSP00000319654:R122H	R	+	2	0	OR4M1	19318686	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.098000	0.71458	1.178000	0.42870	0.506000	0.49869	CGC		0.502	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409770.1		
SUPT16H	11198	broad.mit.edu	37	14	21826560	21826560	+	Silent	SNP	C	C	T			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr14:21826560C>T	ENST00000216297.2	-	20	2666	c.2328G>A	c.(2326-2328)ctG>ctA	p.L776L		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	776					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|nucleosome disassembly (GO:0006337)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		AGGCTGTTTTCAGTTTGTGCC	0.378																																						uc001wao.2																			0					0						c.(2326-2328)CTG>CTA		chromatin-specific transcription elongation							55.0	51.0	52.0					14																	21826560		2202	4300	6502	SO:0001819	synonymous_variant	11198				DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding	g.chr14:21826560C>T	AF152961	CCDS9569.1	14q11.1	2008-08-13	2001-11-28		ENSG00000092201	ENSG00000092201			11465	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 140 kDa subunit"""	605012	"""suppressor of Ty (S.cerevisiae) 16 homolog"""			9489704, 11239457	Standard	NM_007192		Approved	FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68	uc001wao.2	Q9Y5B9	OTTHUMG00000029685	ENST00000216297.2:c.2328G>A	14.37:g.21826560C>T						SUPT16H_uc001wan.2_5'UTR	p.L776L	NM_007192	NP_009123	Q9Y5B9	SP16H_HUMAN	Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)	20	2667	-	all_cancers(95;0.00115)		776					Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Silent	SNP	ENST00000216297.2	37	c.2328G>A	CCDS9569.1																																																																																				0.378	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074025.2		
CTSG	1511	broad.mit.edu	37	14	25044566	25044566	+	Silent	SNP	C	C	T	rs377162733		TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr14:25044566C>T	ENST00000216336.2	-	2	144	c.108G>A	c.(106-108)gcG>gcA	p.A36A		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	36	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|defense response to fungus (GO:0050832)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|negative regulation of growth of symbiont in host (GO:0044130)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|positive regulation of immune response (GO:0050778)|proteolysis (GO:0006508)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	heparin binding (GO:0008201)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		TCTGAAGATACGCCATGTAGG	0.572																																						uc001wpq.2																			0				ovary(2)	2						c.(106-108)GCG>GCA		cathepsin G preproprotein							122.0	120.0	121.0					14																	25044566		2203	4300	6503	SO:0001819	synonymous_variant	1511				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity	g.chr14:25044566C>T	M16117	CCDS9631.1	14q12	2013-02-25			ENSG00000100448	ENSG00000100448		"""Cathepsins"", ""Endogenous ligands"""	2532	protein-coding gene	gene with protein product		116830				2569462	Standard	NM_001911		Approved	CG	uc001wpq.3	P08311	OTTHUMG00000140182	ENST00000216336.2:c.108G>A	14.37:g.25044566C>T							p.A36A	NM_001911	NP_001902	P08311	CATG_HUMAN		GBM - Glioblastoma multiforme(265;0.0269)	2	145	-			36			Peptidase S1.		Q6IBJ6|Q9UCA5|Q9UCU6	Silent	SNP	ENST00000216336.2	37	c.108G>A	CCDS9631.1																																																																																				0.572	CTSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276536.2	NM_001911	
ANPEP	290	broad.mit.edu	37	15	90348339	90348339	+	Nonsense_Mutation	SNP	G	G	C			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr15:90348339G>C	ENST00000300060.6	-	4	1180	c.867C>G	c.(865-867)taC>taG	p.Y289*	ANPEP_ENST00000558177.1_5'Flank	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	289	Interaction with HCoV-229E.|Metalloprotease.				angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	GCTTCTCCACGTAGTCGAACT	0.567																																					NSCLC(30;827 977 2459 19669 26125)	uc002bop.3																			0				ovary(3)|skin(1)	4						c.(865-867)TAC>TAG		membrane alanine aminopeptidase precursor	Ezetimibe(DB00973)						260.0	216.0	231.0					15																	90348339		2200	4299	6499	SO:0001587	stop_gained	290				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding	g.chr15:90348339G>C	M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"""CD molecules"""	500	protein-coding gene	gene with protein product	"""aminopeptidase N"", ""aminopeptidase M"", ""microsomal aminopeptidase"""	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.867C>G	15.37:g.90348339G>C	ENSP00000300060:p.Tyr289*						p.Y289*	NM_001150	NP_001141	P15144	AMPN_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		4	1159	-	Lung NSC(78;0.0221)|all_lung(78;0.0448)		289	DYVEKQAS->QSVEETAQ: No change in receptor activity and HCoV-229E infection.|DYVEKQAS->QSVNETAQ: Complete loss of receptor activity and blocks HCoV-229E infection. No loss of enzymatic activity.|DYVEKQAS->QSVNEQAQ: No change in receptor activity and HCoV-229E infection.		Extracellular.|Interaction with HCoV-229E.|Metalloprotease.		Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Nonsense_Mutation	SNP	ENST00000300060.6	37	c.867C>G	CCDS10356.1	.	.	.	.	.	.	.	.	.	.	G	36	5.611742	0.96637	.	.	ENSG00000166825	ENST00000300060	.	.	.	5.08	-3.92	0.04155	.	2.191610	0.01480	N	0.016630	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.3283	0.11051	0.2728:0.0:0.2395:0.4876	.	.	.	.	X	289	.	ENSP00000300060:Y289X	Y	-	3	2	ANPEP	88149343	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.904000	0.01593	-0.242000	0.09667	0.462000	0.41574	TAC		0.567	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1		
TPSD1	23430	broad.mit.edu	37	16	1306608	1306608	+	Silent	SNP	C	C	T			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr16:1306608C>T	ENST00000211076.3	+	2	322	c.174C>T	c.(172-174)cgC>cgT	p.R58R	RP11-616M22.5_ENST00000566997.1_RNA|TPSD1_ENST00000397534.2_Silent_p.R51R	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	58	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				TGAGAGTCCGCGGCCCATACT	0.697																																						uc002clb.1																			0					0						c.(172-174)CGC>CGT		tryptase delta 1 precursor							59.0	72.0	67.0					16																	1306608		2199	4300	6499	SO:0001819	synonymous_variant	23430				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr16:1306608C>T	AF206664	CCDS10432.1	16p13.3	2008-07-29			ENSG00000095917	ENSG00000095917	3.4.21.59		14118	protein-coding gene	gene with protein product	"""mMCP-7-like II"", ""mMCP-7-like I"", ""MMCP-7-LIKE-2"""	609272				9920877	Standard	NM_012217		Approved		uc002clb.1	Q9BZJ3	OTTHUMG00000128511	ENST00000211076.3:c.174C>T	16.37:g.1306608C>T						TPSD1_uc010brm.1_5'UTR	p.R58R	NM_012217	NP_036349	Q9BZJ3	TRYD_HUMAN			2	183	+		Hepatocellular(780;0.00369)	58			Peptidase S1.		O95824|Q8TDI6|Q96L36|Q96RZ5|Q9H2Y6|Q9UQI8	Silent	SNP	ENST00000211076.3	37	c.174C>T	CCDS10432.1																																																																																				0.697	TPSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250320.2		
RBBP6	5930	broad.mit.edu	37	16	24552109	24552109	+	Silent	SNP	A	A	G			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr16:24552109A>G	ENST00000319715.4	+	1	594	c.162A>G	c.(160-162)aaA>aaG	p.K54K	RBBP6_ENST00000348022.2_Silent_p.K54K|RBBP6_ENST00000381039.3_Silent_p.K54K|RBBP6_ENST00000452655.2_Silent_p.K54K	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	54	DWNN. {ECO:0000255|PROSITE- ProRule:PRU00612}.				embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		CGCAGACGAAAGAAGGTAAGG	0.517																																						uc002dmh.2																			0				ovary(3)|pancreas(1)	4						c.(160-162)AAA>AAG		retinoblastoma-binding protein 6 isoform 1							61.0	62.0	62.0					16																	24552109		2197	4300	6497	SO:0001819	synonymous_variant	5930				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:24552109A>G		CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"""proliferation potential-related protein"""	600938	"""retinoblastoma-binding protein 6"""			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.162A>G	16.37:g.24552109A>G						RBBP6_uc010vcb.1_Intron|RBBP6_uc002dmg.2_Silent_p.K54K|RBBP6_uc002dmi.2_Silent_p.K54K|RBBP6_uc010bxr.2_Silent_p.K54K	p.K54K	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN		GBM - Glioblastoma multiforme(48;0.0518)	1	1202	+			54			DWNN.		Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Silent	SNP	ENST00000319715.4	37	c.162A>G	CCDS10621.1																																																																																				0.517	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910	
OR1A1	8383	broad.mit.edu	37	17	3119210	3119210	+	Missense_Mutation	SNP	C	C	T	rs144175148	byFrequency	TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr17:3119210C>T	ENST00000304094.1	+	1	296	c.296C>T	c.(295-297)aCg>aTg	p.T99M		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	99						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						GGATGCCTAACGCAGATGTAT	0.488																																						uc010vrc.1																			0				ovary(1)|skin(1)	2						c.(295-297)ACG>ATG		olfactory receptor, family 1, subfamily A,		C	MET/THR	3,4403	8.1+/-20.4	0,3,2200	124.0	107.0	113.0		296	2.9	0.8	17	dbSNP_134	113	0,8600		0,0,4300	yes	missense	OR1A1	NM_014565.2	81	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	benign	99/310	3119210	3,13003	2203	4300	6503	SO:0001583	missense	8383				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3119210C>T	AF087918	CCDS11022.1	17p13.3	2012-08-09			ENSG00000172146	ENSG00000172146		"""GPCR / Class A : Olfactory receptors"""	8179	protein-coding gene	gene with protein product						10673334	Standard	NM_014565		Approved	OR17-7	uc010vrc.2	Q9P1Q5	OTTHUMG00000090637	ENST00000304094.1:c.296C>T	17.37:g.3119210C>T	ENSP00000305207:p.Thr99Met						p.T99M	NM_014565	NP_055380	Q9P1Q5	OR1A1_HUMAN			1	296	+			99			Extracellular (Potential).		A5D914|Q6IFM1|Q6NTA9|Q96R87	Missense_Mutation	SNP	ENST00000304094.1	37	c.296C>T	CCDS11022.1	.	.	.	.	.	.	.	.	.	.	C	9.447	1.089595	0.20390	6.81E-4	0.0	ENSG00000172146	ENST00000304094	T	0.02974	4.09	4.96	2.9	0.33743	GPCR, rhodopsin-like superfamily (1);	0.382408	0.22795	N	0.055546	T	0.02970	0.0088	L	0.35793	1.09	0.09310	N	1	B	0.29909	0.261	B	0.27170	0.077	T	0.38693	-0.9649	10	0.72032	D	0.01	.	9.7696	0.40580	0.0:0.7794:0.1407:0.0799	.	99	Q9P1Q5	OR1A1_HUMAN	M	99	ENSP00000305207:T99M	ENSP00000305207:T99M	T	+	2	0	OR1A1	3065960	0.000000	0.05858	0.839000	0.33178	0.703000	0.40648	-0.152000	0.10159	1.311000	0.45024	0.436000	0.28706	ACG		0.488	OR1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207292.1	NM_014565	
DNAH2	146754	broad.mit.edu	37	17	7679385	7679385	+	Missense_Mutation	SNP	G	G	A	rs201053374		TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr17:7679385G>A	ENST00000572933.1	+	31	6325	c.4865G>A	c.(4864-4866)cGg>cAg	p.R1622Q	DNAH2_ENST00000389173.2_Missense_Mutation_p.R1622Q			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1622	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GTGACCCTGCGGGACCTTCTC	0.627																																						uc002giu.1																			0				ovary(6)|skin(6)|central_nervous_system(1)	13						c.(4864-4866)CGG>CAG		dynein heavy chain domain 3							84.0	75.0	78.0					17																	7679385		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7679385G>A	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.4865G>A	17.37:g.7679385G>A	ENSP00000458355:p.Arg1622Gln						p.R1622Q	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			30	4879	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	1622			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.4865G>A	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	18.51	3.640141	0.67244	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.61742	0.08	5.66	5.66	0.87406	Dynein heavy chain, domain-2 (1);	0.226541	0.36034	N	0.002832	T	0.51381	0.1671	L	0.42686	1.345	0.80722	D	1	B	0.29612	0.251	B	0.32624	0.149	T	0.53236	-0.8467	10	0.59425	D	0.04	.	11.9406	0.52899	0.0803:0.0:0.9197:0.0	.	1622	Q9P225	DYH2_HUMAN	Q	1622	ENSP00000373825:R1622Q	ENSP00000353818:R1622Q	R	+	2	0	DNAH2	7620110	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.920000	0.56446	2.666000	0.90696	0.655000	0.94253	CGG		0.627	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877	
MYO15A	51168	broad.mit.edu	37	17	18047889	18047889	+	Missense_Mutation	SNP	G	G	A	rs369781492		TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr17:18047889G>A	ENST00000205890.5	+	29	6594	c.6256G>A	c.(6256-6258)Gtg>Atg	p.V2086M	snoU13_ENST00000459354.1_RNA	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2086	MyTH4 1. {ECO:0000255|PROSITE- ProRule:PRU00359}.|Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TGCAGAAGCCGTGAGCATCTT	0.607																																						uc010vxh.1																			0				skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9						c.(6256-6258)GTG>ATG		myosin XV		G	MET/VAL	0,4072		0,0,2036	81.0	93.0	89.0		6256	-3.5	0.0	17		89	2,8388		0,2,4193	no	missense	MYO15A	NM_016239.3	21	0,2,6229	AA,AG,GG		0.0238,0.0,0.016	possibly-damaging	2086/3531	18047889	2,12460	2036	4195	6231	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18047889G>A	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.6256G>A	17.37:g.18047889G>A	ENSP00000205890:p.Val2086Met						p.V2086M	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN			28	6594	+	all_neural(463;0.228)		2086			Tail.|MyTH4 1.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.6256G>A	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	G	10.14	1.269499	0.23221	0.0	2.38E-4	ENSG00000091536	ENST00000205890	D	0.89415	-2.51	5.47	-3.5	0.04710	MyTH4 domain (2);	.	.	.	.	D	0.83431	0.5253	M	0.76838	2.35	0.40525	D	0.980877	P	0.36144	0.539	B	0.21917	0.037	T	0.77760	-0.2467	9	0.66056	D	0.02	.	8.2448	0.31682	0.3627:0.4817:0.1556:0.0	.	2086	Q9UKN7	MYO15_HUMAN	M	2086	ENSP00000205890:V2086M	ENSP00000205890:V2086M	V	+	1	0	MYO15A	17988614	0.000000	0.05858	0.009000	0.14445	0.415000	0.31203	-0.412000	0.07132	-0.013000	0.14199	0.655000	0.94253	GTG		0.607	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239	
GPR179	440435	broad.mit.edu	37	17	36484987	36484987	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr17:36484987C>T	ENST00000342292.4	-	11	4485	c.4465G>A	c.(4465-4467)Ggg>Agg	p.G1489R	GPR179_ENST00000584976.1_5'Flank	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1489					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				ATTTCCTGCCCCATCACGTTA	0.512																																						uc002hpz.2																			0				ovary(3)	3						c.(4465-4467)GGG>AGG		GPR158-like 1 precursor							136.0	138.0	137.0					17																	36484987		2008	4183	6191	SO:0001583	missense	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36484987C>T		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.4465G>A	17.37:g.36484987C>T	ENSP00000345060:p.Gly1489Arg						p.G1489R	NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN			11	4486	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	1489			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000342292.4	37	c.4465G>A	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	C	18.47	3.631571	0.67015	.	.	ENSG00000188888	ENST00000342292	T	0.69806	-0.43	4.54	3.57	0.40892	.	0.270113	0.26609	N	0.023432	T	0.61362	0.2341	M	0.65975	2.015	0.09310	N	1	B	0.24882	0.113	B	0.25506	0.061	T	0.55464	-0.8137	10	0.44086	T	0.13	-11.6599	8.3061	0.32042	0.0:0.8921:0.0:0.1079	.	1489	Q6PRD1	GP179_HUMAN	R	1489	ENSP00000345060:G1489R	ENSP00000345060:G1489R	G	-	1	0	GPR179	33738513	0.088000	0.21588	0.003000	0.11579	0.305000	0.27757	2.530000	0.45641	1.125000	0.41998	0.462000	0.41574	GGG		0.512	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2		
PGAP3	93210	broad.mit.edu	37	17	37844120	37844120	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr17:37844120G>A	ENST00000300658.4	-	1	240	c.148C>T	c.(148-150)Cgc>Tgc	p.R50C	PGAP3_ENST00000429199.2_Missense_Mutation_p.R50C|PGAP3_ENST00000378011.4_Missense_Mutation_p.R50C|ERBB2_ENST00000578199.1_5'Flank|PGAP3_ENST00000579146.1_Missense_Mutation_p.R50C|ERBB2_ENST00000584601.1_5'Flank|ERBB2_ENST00000406381.2_5'Flank	NM_033419.3	NP_219487.3	Q96FM1	PGAP3_HUMAN	post-GPI attachment to proteins 3	50					GPI anchor biosynthetic process (GO:0006506)|GPI anchor metabolic process (GO:0006505)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	hydrolase activity, acting on ester bonds (GO:0016788)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						TGGCGGGAGCGGAAGTGATTC	0.657																																						uc002hsj.2																			0				upper_aerodigestive_tract(1)	1						c.(148-150)CGC>TGC		per1-like domain containing 1 precursor							20.0	19.0	19.0					17																	37844120		2201	4295	6496	SO:0001583	missense	93210				GPI anchor biosynthetic process	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	hydrolase activity, acting on ester bonds	g.chr17:37844120G>A	AB088396	CCDS32641.1	17q21.2	2009-06-02	2009-06-02	2009-06-02		ENSG00000161395			23719	protein-coding gene	gene with protein product	"""post-GPI attachment to proteins 3"""	611801	"""per1-like domain containing 1"""	PERLD1		15010812, 17021251, 17314402	Standard	NM_001291728		Approved	MGC9753, CAB2, PP1498, PER1	uc002hsj.3	Q96FM1		ENST00000300658.4:c.148C>T	17.37:g.37844120G>A	ENSP00000300658:p.Arg50Cys					ERBB2_uc002hsm.2_5'Flank|ERBB2_uc010cwa.2_5'Flank|PGAP3_uc010wej.1_Missense_Mutation_p.R50C|PGAP3_uc002hsk.2_Missense_Mutation_p.R50C|PGAP3_uc010cvz.2_Missense_Mutation_p.R50C|ERBB2_uc002hsl.2_5'Flank	p.R50C	NM_033419	NP_219487	Q96FM1	PGAP3_HUMAN			1	191	-			50			Lumenal (Potential).		B4DGK7|Q86Z03|Q8NBJ8	Missense_Mutation	SNP	ENST00000300658.4	37	c.148C>T	CCDS32641.1	.	.	.	.	.	.	.	.	.	.	G	36	5.727891	0.96856	.	.	ENSG00000161395	ENST00000300658;ENST00000378011;ENST00000429199	.	.	.	4.81	4.81	0.61882	.	0.127459	0.56097	D	0.000039	T	0.64382	0.2593	L	0.36672	1.1	0.80722	D	1	P;D;D	0.89917	0.605;1.0;0.999	B;P;P	0.60117	0.059;0.869;0.76	T	0.64909	-0.6296	9	0.46703	T	0.11	-27.8054	16.7954	0.85600	0.0:0.0:1.0:0.0	.	50;50;50	B4DGK7;Q96FM1-2;Q96FM1	.;.;PGAP3_HUMAN	C	50	.	ENSP00000300658:R50C	R	-	1	0	PGAP3	35097646	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.115000	0.57865	2.519000	0.84933	0.561000	0.74099	CGC		0.657	PGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444825.2	NM_033419	
CLTC	1213	broad.mit.edu	37	17	57746279	57746279	+	Missense_Mutation	SNP	A	A	G			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr17:57746279A>G	ENST00000269122.3	+	14	2544	c.2270A>G	c.(2269-2271)gAg>gGg	p.E757G	CLTC_ENST00000393043.1_Missense_Mutation_p.E757G|CLTC_ENST00000579456.1_Intron	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	757	Heavy chain arm.|Proximal segment.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TACGATCCTGAGCGAGTCAAG	0.398			T	"""ALK, TFE3"""	"""ALCL, renal """																																	uc002ixq.1				Dom	yes		17	17q11-qter	1213	T	"""clathrin, heavy polypeptide (Hc)"""			L	ALK|TFE3		ALCL|renal 	CLTC/ALK(44)|CLTC/TFE3(2)	0				haematopoietic_and_lymphoid_tissue(33)|soft_tissue(11)|kidney(2)|ovary(1)|breast(1)	48						c.(2269-2271)GAG>GGG		clathrin heavy chain 1							103.0	107.0	106.0					17																	57746279		2203	4300	6503	SO:0001583	missense	1213				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity	g.chr17:57746279A>G	X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"""clathrin, heavy polypeptide (Hc)"", ""clathrin, heavy chain"", ""clathrin, heavy polypeptide-like 2"""	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.2270A>G	17.37:g.57746279A>G	ENSP00000269122:p.Glu757Gly					CLTC_uc002ixp.2_Missense_Mutation_p.E757G|CLTC_uc002ixr.1_Missense_Mutation_p.E761G	p.E757G	NM_004859	NP_004850	Q00610	CLH1_HUMAN			14	2713	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		757			Heavy chain arm.|Proximal segment.		D3DU00|Q6N0A0|Q86TF2	Missense_Mutation	SNP	ENST00000269122.3	37	c.2270A>G	CCDS32696.1	.	.	.	.	.	.	.	.	.	.	A	29.8	5.039165	0.93630	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	T;T	0.21543	2.0;2.0	5.42	5.42	0.78866	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.045168	0.85682	D	0.000000	T	0.49729	0.1574	M	0.89095	3.005	0.80722	D	1	P;P	0.39665	0.682;0.587	P;P	0.54174	0.598;0.744	T	0.56523	-0.7965	10	0.87932	D	0	.	15.7534	0.78005	1.0:0.0:0.0:0.0	.	757;757	Q00610;Q00610-2	CLH1_HUMAN;.	G	757	ENSP00000269122:E757G;ENSP00000376763:E757G	ENSP00000269122:E757G	E	+	2	0	CLTC	55101061	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.287000	0.95975	2.184000	0.69523	0.383000	0.25322	GAG		0.398	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1	NM_004859	
GAA	2548	broad.mit.edu	37	17	78082609	78082609	+	Silent	SNP	G	G	T			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr17:78082609G>T	ENST00000302262.3	+	8	1527	c.1308G>T	c.(1306-1308)cgG>cgT	p.R436R	GAA_ENST00000390015.3_Silent_p.R436R	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	436					cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|heart morphogenesis (GO:0003007)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|maltose metabolic process (GO:0000023)|muscle cell cellular homeostasis (GO:0046716)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|regulation of the force of heart contraction (GO:0002026)|sucrose metabolic process (GO:0005985)|tissue development (GO:0009888)|vacuolar sequestering (GO:0043181)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)|Miglitol(DB00491)	AGGGCGGCCGGCGCTACATGA	0.642																																						uc002jxo.2																			0				ovary(1)	1						c.(1306-1308)CGG>CGT		acid alpha-glucosidase preproprotein	Acarbose(DB00284)						20.0	18.0	19.0					17																	78082609		2193	4295	6488	SO:0001819	synonymous_variant	2548				cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity	g.chr17:78082609G>T		CCDS32760.1	17q25.2-q25.3	2014-09-17	2008-08-01				3.2.1.20		4065	protein-coding gene	gene with protein product	"""Pompe disease"", ""glycogen storage disease type II"""	606800					Standard	NM_000152		Approved		uc002jxq.3	P10253		ENST00000302262.3:c.1308G>T	17.37:g.78082609G>T						GAA_uc002jxp.2_Silent_p.R436R|GAA_uc002jxq.2_Silent_p.R436R	p.R436R	NM_001079803	NP_001073271	P10253	LYAG_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		9	1490	+	all_neural(118;0.117)		436					Q09GN4|Q14351|Q16302|Q8IWE7	Silent	SNP	ENST00000302262.3	37	c.1308G>T	CCDS32760.1																																																																																				0.642	GAA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437441.1		
CEP76	79959	broad.mit.edu	37	18	12699056	12699056	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr18:12699056G>A	ENST00000262127.2	-	4	667	c.442C>T	c.(442-444)Cgt>Tgt	p.R148C	PSMG2_ENST00000585331.2_Intron|CEP76_ENST00000423709.2_Intron|CEP76_ENST00000586887.1_5'UTR	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa	148					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)				endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GGTTTAGAACGAAAACGTTGG	0.373																																						uc002kri.2																			0					0						c.(442-444)CGT>TGT		centrosomal protein 76kDa							90.0	83.0	86.0					18																	12699056		2203	4300	6503	SO:0001583	missense	79959				G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding	g.chr18:12699056G>A	BC026307	CCDS11861.1, CCDS62390.1	18p11.21	2014-02-20	2005-12-01	2005-12-01	ENSG00000101624	ENSG00000101624			25727	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 9"""	C18orf9		14654843	Standard	NM_024899		Approved	HsT1705, FLJ12542	uc002kri.4	Q8TAP6	OTTHUMG00000131701	ENST00000262127.2:c.442C>T	18.37:g.12699056G>A	ENSP00000262127:p.Arg148Cys					PSMG2_uc002krg.2_Intron|CEP76_uc002krh.3_5'UTR|CEP76_uc010wzz.1_Intron|CEP76_uc010xaa.1_5'UTR|CEP76_uc010xab.1_3'UTR	p.R148C	NM_024899	NP_079175	Q8TAP6	CEP76_HUMAN			4	598	-			148					B0YJB2|B4DXG5|B4DZW1|Q658N5|Q9H9U7	Missense_Mutation	SNP	ENST00000262127.2	37	c.442C>T	CCDS11861.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.089872	0.55968	.	.	ENSG00000101624	ENST00000262127	T	0.80304	-1.36	5.83	5.83	0.93111	.	0.045898	0.85682	D	0.000000	D	0.85301	0.5665	L	0.58669	1.825	0.80722	D	1	D	0.76494	0.999	P	0.53649	0.731	D	0.84388	0.0553	10	0.45353	T	0.12	-1.9037	20.1338	0.98010	0.0:0.0:1.0:0.0	.	148	Q8TAP6	CEP76_HUMAN	C	148	ENSP00000262127:R148C	ENSP00000262127:R148C	R	-	1	0	CEP76	12689056	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.935000	0.87658	2.770000	0.95276	0.655000	0.94253	CGT		0.373	CEP76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254611.1	NM_024899	
MC5R	4161	broad.mit.edu	37	18	13826367	13826367	+	Silent	SNP	G	G	T			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr18:13826367G>T	ENST00000324750.3	+	1	825	c.603G>T	c.(601-603)ctG>ctT	p.L201L	AP001525.1_ENST00000390194.2_RNA	NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	201					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|melanocortin receptor activity (GO:0004977)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						TGTTCCTCCTGGTGTCTCTGT	0.587																																						uc010xaf.1																			0				ovary(3)|lung(2)|breast(1)	6						c.(601-603)CTG>CTT		melanocortin 5 receptor							555.0	463.0	494.0					18																	13826367		2203	4300	6503	SO:0001819	synonymous_variant	4161				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding	g.chr18:13826367G>T	AY268429	CCDS11868.1	18p11.2	2012-08-10			ENSG00000176136	ENSG00000176136		"""GPCR / Class A : Melanocortin receptors"""	6933	protein-coding gene	gene with protein product		600042				8396929	Standard	NM_005913		Approved		uc010xaf.2	P33032	OTTHUMG00000131720	ENST00000324750.3:c.603G>T	18.37:g.13826367G>T							p.L201L	NM_005913	NP_005904	P33032	MC5R_HUMAN			1	603	+			201			Helical; Name=5; (Potential).		B0YJ34|Q502V1	Silent	SNP	ENST00000324750.3	37	c.603G>T	CCDS11868.1																																																																																				0.587	MC5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254638.1	NM_005913	
POTEC	388468	broad.mit.edu	37	18	14542740	14542740	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr18:14542740G>A	ENST00000358970.5	-	1	405	c.406C>T	c.(406-408)Cgt>Tgt	p.R136C	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	136										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TCTTCTCGACGGACGTGGTAC	0.602																																						uc010dln.2																			0				skin(3)	3						c.(406-408)CGT>TGT		ANKRD26-like family B, member 2							30.0	45.0	40.0					18																	14542740		692	1590	2282	SO:0001583	missense	388468							g.chr18:14542740G>A	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.406C>T	18.37:g.14542740G>A	ENSP00000351856:p.Arg136Cys					POTEC_uc010xaj.1_RNA	p.R136C	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN			1	860	-			136						Missense_Mutation	SNP	ENST00000358970.5	37	c.406C>T	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	G	5.962	0.361500	0.11296	.	.	ENSG00000183206	ENST00000358970;ENST00000389891	T	0.53423	0.62	1.03	0.109	0.14578	.	.	.	.	.	T	0.33177	0.0854	L	0.43152	1.355	0.09310	N	1	B	0.24768	0.111	B	0.13407	0.009	T	0.23833	-1.0177	9	0.48119	T	0.1	.	3.591	0.07989	0.279:0.0:0.721:0.0	.	136	B2RU33	POTEC_HUMAN	C	136	ENSP00000351856:R136C	ENSP00000351856:R136C	R	-	1	0	POTEC	14532740	0.007000	0.16637	0.002000	0.10522	0.001000	0.01503	0.206000	0.17375	0.005000	0.14708	-1.101000	0.02118	CGT		0.602	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269	
ATP8B1	5205	broad.mit.edu	37	18	55328473	55328473	+	Silent	SNP	C	C	T			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr18:55328473C>T	ENST00000283684.4	-	21	2639	c.2640G>A	c.(2638-2640)gtG>gtA	p.V880V	RP11-35G9.5_ENST00000588925.1_RNA|ATP8B1_ENST00000536015.1_Silent_p.V880V|RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.3_ENST00000591854.1_RNA|RP11-35G9.3_ENST00000592201.1_RNA			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	880					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|drug transmembrane transport (GO:0006855)|inner ear receptor cell development (GO:0060119)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid translocation (GO:0045332)|regulation of microvillus assembly (GO:0032534)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|vestibulocochlear nerve formation (GO:0021650)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|cardiolipin binding (GO:1901612)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				TGTACCTCTTCACCAGGTCCA	0.582																																						uc002lgw.2																			0				breast(5)|ovary(2)|central_nervous_system(2)|lung(1)	10						c.(2638-2640)GTG>GTA		ATPase, class I, type 8B, member 1							98.0	83.0	88.0					18																	55328473		2203	4300	6503	SO:0001819	synonymous_variant	5205	Byler_disease			ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr18:55328473C>T	AF038007	CCDS11965.1	18q21	2010-04-28	2010-04-28		ENSG00000081923	ENSG00000081923		"""ATPases / P-type"""	3706	protein-coding gene	gene with protein product		602397	"""ATPase, Class I, type 8B, member 1"", ""ATPase, class I, type 8B, member 1"""	FIC1, BRIC, PFIC1		9500542, 7655458	Standard	NM_005603		Approved	ATPIC, PFIC	uc002lgw.3	O43520	OTTHUMG00000132739	ENST00000283684.4:c.2640G>A	18.37:g.55328473C>T						uc002lgu.1_Intron|uc002lgv.1_Intron	p.V880V	NM_005603	NP_005594	O43520	AT8B1_HUMAN			21	2640	-		Colorectal(73;0.229)	880			Cytoplasmic (Potential).		Q9BTP8	Silent	SNP	ENST00000283684.4	37	c.2640G>A	CCDS11965.1																																																																																				0.582	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256097.1	NM_005603	
TNFSF9	8744	broad.mit.edu	37	19	6535064	6535064	+	Missense_Mutation	SNP	C	C	T	rs184642529	byFrequency	TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr19:6535064C>T	ENST00000245817.3	+	3	790	c.752C>T	c.(751-753)cCg>cTg	p.P251L		NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN	tumor necrosis factor (ligand) superfamily, member 9	251					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|immune response (GO:0006955)|myeloid dendritic cell differentiation (GO:0043011)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytotoxic T cell differentiation (GO:0045585)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						CTCCCTTCACCGAGGTCGGAA	0.637													c|||	5	0.000998403	0.0	0.0	5008	,	,		10926	0.005		0.0	False		,,,				2504	0.0					uc002mfh.2																			0				central_nervous_system(1)	1						c.(751-753)CCG>CTG		tumor necrosis factor (ligand) superfamily,			LEU/PRO	0,4396		0,0,2198	16.0	16.0	16.0		752	-0.4	0.0	19		16	1,8591		0,1,4295	yes	missense	TNFSF9	NM_003811.3	98	0,1,6493	TT,TC,CC		0.0116,0.0,0.0077	benign	251/255	6535064	1,12987	2198	4296	6494	SO:0001583	missense	8744				apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr19:6535064C>T	U03398	CCDS12169.1	19p13.3	2008-07-22				ENSG00000125657		"""Tumor necrosis factor (ligand) superfamily"""	11939	protein-coding gene	gene with protein product	"""receptor 4-1BB ligand"", ""homolog of mouse 4-1BB-L"""	606182				8405064, 8088337	Standard	NM_003811		Approved	4-1BB-L	uc002mfh.2	P41273		ENST00000245817.3:c.752C>T	19.37:g.6535064C>T	ENSP00000245817:p.Pro251Leu						p.P251L	NM_003811	NP_003802	P41273	TNFL9_HUMAN			3	790	+			251			Extracellular (Potential).		Q2M3S2	Missense_Mutation	SNP	ENST00000245817.3	37	c.752C>T	CCDS12169.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	c	0.033	-1.324114	0.01309	0.0	1.16E-4	ENSG00000125657	ENST00000245817	T	0.44482	0.92	3.45	-0.385	0.12470	.	0.259523	0.19393	U	0.115360	T	0.14743	0.0356	N	0.12182	0.205	0.09310	N	1	B	0.15473	0.013	B	0.08055	0.003	T	0.23119	-1.0197	10	0.02654	T	1	.	2.5791	0.04814	0.2299:0.5041:0.0:0.2661	.	251	P41273	TNFL9_HUMAN	L	251	ENSP00000245817:P251L	ENSP00000245817:P251L	P	+	2	0	TNFSF9	6486064	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.142000	0.03203	0.254000	0.21573	-0.301000	0.09380	CCG		0.637	TNFSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457856.1	NM_003811	
MUC16	94025	broad.mit.edu	37	19	9068085	9068085	+	Missense_Mutation	SNP	G	G	A	rs201728641		TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr19:9068085G>A	ENST00000397910.4	-	3	19564	c.19361C>T	c.(19360-19362)gCg>gTg	p.A6454V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6456	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.A6454V(2)|p.A6454E(2)|p.A2087V(1)|p.A2087E(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGTGATGTCGCCCTATGAGG	0.498																																						uc002mkp.2																			6	Substitution - Missense(6)		lung(3)|kidney(3)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(19360-19362)GCG>GTG		mucin 16			VAL/ALA	0,4030		0,0,2015	281.0	274.0	277.0		19361	-0.3	0.0	19		277	7,8361		0,7,4177	yes	missense	MUC16	NM_024690.2	64	0,7,6192	AA,AG,GG		0.0837,0.0,0.0565	probably-damaging	6454/14508	9068085	7,12391	2015	4184	6199	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9068085G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.19361C>T	19.37:g.9068085G>A	ENSP00000381008:p.Ala6454Val						p.A6454V	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	19565	-			6456			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.19361C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	6.353	0.433141	0.12045	0.0	8.37E-4	ENSG00000181143	ENST00000397910	T	0.02709	4.19	2.15	-0.287	0.12858	.	.	.	.	.	T	0.02267	0.0070	L	0.48642	1.525	.	.	.	P	0.39404	0.672	B	0.28638	0.092	T	0.40887	-0.9539	8	0.87932	D	0	.	2.954	0.05870	0.1898:0.2991:0.5111:0.0	.	6454	B5ME49	.	V	6454	ENSP00000381008:A6454V	ENSP00000381008:A6454V	A	-	2	0	MUC16	8929085	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.023000	0.12456	0.010000	0.14839	0.177000	0.17058	GCG		0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
RFX1	5989	broad.mit.edu	37	19	14104590	14104591	+	Frame_Shift_Ins	INS	-	-	G	rs368811511		TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr19:14104590_14104591insG	ENST00000254325.4	-	2	299_300	c.65_66insC	c.(64-66)ccgfs	p.P22fs		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	22					immune response (GO:0006955)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			gggcttgtggcggggcctgtgg	0.653																																						uc002mxv.2																			0				lung(1)|pancreas(1)	2						c.(64-66)CCGfs		regulatory factor X1				272,2774		21,230,1272						-5.2	0.1			15	811,6035		21,769,2633	no	frameshift	RFX1	NM_002918.4		42,999,3905	A1A1,A1R,RR		11.8463,8.9297,10.9482				1083,8809				SO:0001589	frameshift_variant	5989				immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr19:14104590_14104591insG		CCDS12301.1	19p13.1	2008-07-17				ENSG00000132005			9982	protein-coding gene	gene with protein product	"""trans-acting regulatory factor 1"", ""enhancer factor C"", ""MHC class II regulatory factor RFX"""	600006				1505960, 8289803	Standard	NM_002918		Approved	EF-C	uc002mxv.3	P22670		ENST00000254325.4:c.66dupC	19.37:g.14104594_14104594dupG	ENSP00000254325:p.Pro22fs					RFX1_uc010dzi.2_Frame_Shift_Ins_p.P22fs	p.P22fs	NM_002918	NP_002909	P22670	RFX1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)		2	337_338	-			22						Frame_Shift_Ins	INS	ENST00000254325.4	37	c.65_66insC	CCDS12301.1																																																																																				0.653	RFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458510.1	NM_002918	
SLC25A42	284439	broad.mit.edu	37	19	19217127	19217127	+	Missense_Mutation	SNP	A	A	C	rs145774094		TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr19:19217127A>C	ENST00000318596.7	+	6	581	c.430A>C	c.(430-432)Aca>Cca	p.T144P	SLC25A42_ENST00000600275.1_3'UTR	NM_178526.4	NP_848621.2	Q86VD7	S2542_HUMAN	solute carrier family 25, member 42	144					ADP transport (GO:0015866)|AMP transport (GO:0080121)|ATP transport (GO:0015867)|coenzyme A transmembrane transport (GO:0035349)|metabolic process (GO:0008152)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	adenosine-diphosphatase activity (GO:0043262)|ADP transmembrane transporter activity (GO:0015217)|AMP transmembrane transporter activity (GO:0080122)|ATP transmembrane transporter activity (GO:0005347)|coenzyme A transmembrane transporter activity (GO:0015228)			cervix(1)|large_intestine(2)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)			GGCTGGAACGACAGCCGCTTC	0.642																																						uc002nlf.1																			0					0						c.(430-432)ACA>CCA		solute carrier family 25, member 42							57.0	58.0	58.0					19																	19217127		2203	4300	6503	SO:0001583	missense	284439				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr19:19217127A>C		CCDS32966.1	19p13.11	2013-05-22			ENSG00000181035	ENSG00000181035		"""Solute carriers"""	28380	protein-coding gene	gene with protein product		610823				16949250, 19429682	Standard	NM_178526		Approved	MGC26694	uc002nlf.3	Q86VD7		ENST00000318596.7:c.430A>C	19.37:g.19217127A>C	ENSP00000326693:p.Thr144Pro					SLC25A42_uc010xqn.1_Missense_Mutation_p.T196P	p.T144P	NM_178526	NP_848621	Q86VD7	S2542_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)		6	581	+			144			Helical; Name=3; (Potential).|Solcar 2.		D2T2J5|O14553|O43378	Missense_Mutation	SNP	ENST00000318596.7	37	c.430A>C	CCDS32966.1	.	.	.	.	.	.	.	.	.	.	A	26.7	4.763524	0.89932	.	.	ENSG00000181035	ENST00000318596	T	0.79554	-1.28	4.5	4.5	0.54988	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.91815	0.7410	H	0.94423	3.535	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	D	0.93515	0.6856	10	0.72032	D	0.01	-6.4339	12.6426	0.56718	1.0:0.0:0.0:0.0	.	196;144	B7Z8R5;Q86VD7	.;S2542_HUMAN	P	144	ENSP00000326693:T144P	ENSP00000326693:T144P	T	+	1	0	SLC25A42	19078127	1.000000	0.71417	0.467000	0.27180	0.865000	0.49528	8.285000	0.89914	1.672000	0.50884	0.402000	0.26972	ACA		0.642	SLC25A42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465931.1	NM_178526	
KMT2B	9757	broad.mit.edu	37	19	36219962	36219962	+	Silent	SNP	G	G	A			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr19:36219962G>A	ENST00000222270.7	+	21	4764	c.4764G>A	c.(4762-4764)ggG>ggA	p.G1588G	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Silent_p.G1588G	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1588					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										TCAAATACGGGGATGCAGACT	0.607																																						uc010eei.2																			0				central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11						c.(4762-4764)GGG>GGA		myeloid/lymphoid or mixed-lineage leukemia 4							70.0	73.0	72.0					19																	36219962		2096	4215	6311	SO:0001819	synonymous_variant	9757				chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:36219962G>A	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.4764G>A	19.37:g.36219962G>A							p.G1588G	NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		22	4764	+	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		1588					O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Silent	SNP	ENST00000222270.7	37	c.4764G>A	CCDS46055.1																																																																																				0.607	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727	
NLRP12	91662	broad.mit.edu	37	19	54314124	54314124	+	Silent	SNP	G	G	A			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr19:54314124G>A	ENST00000324134.6	-	3	957	c.789C>T	c.(787-789)agC>agT	p.S263S	NLRP12_ENST00000345770.5_Silent_p.S263S|NLRP12_ENST00000391772.1_Silent_p.S263S|NLRP12_ENST00000391775.3_Silent_p.S263S|NLRP12_ENST00000351894.4_Silent_p.S263S|NLRP12_ENST00000354278.3_Silent_p.S263S|NLRP12_ENST00000391773.1_Silent_p.S263S|NLRP12_ENST00000535162.1_Silent_p.S263S	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	263	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GGTCTTGCATGCTGCATTCCG	0.567																																						uc002qch.3																			0				ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7						c.(787-789)AGC>AGT		NLR family, pyrin domain containing 12 isoform							54.0	46.0	49.0					19																	54314124		2203	4300	6503	SO:0001819	synonymous_variant	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54314124G>A	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.789C>T	19.37:g.54314124G>A						NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Silent_p.S263S|NLRP12_uc002qcj.3_Silent_p.S263S|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Silent_p.S263S	p.S263S	NM_144687	NP_653288	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	3	1009	-	Ovarian(34;0.19)		263			NACHT.		A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Silent	SNP	ENST00000324134.6	37	c.789C>T	CCDS12864.1																																																																																				0.567	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687	
THADA	63892	broad.mit.edu	37	2	43768396	43768396	+	Missense_Mutation	SNP	T	T	G			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr2:43768396T>G	ENST00000405006.4	-	21	3517	c.3166A>C	c.(3166-3168)Agt>Cgt	p.S1056R	THADA_ENST00000330266.7_Missense_Mutation_p.S766R|THADA_ENST00000415080.2_Missense_Mutation_p.S766R|THADA_ENST00000405975.2_Missense_Mutation_p.S1056R	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1056										breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TCCTTCATACTTCTCCAACAA	0.418																																						uc002rsw.3																			0				ovary(2)|skin(1)	3						c.(3166-3168)AGT>CGT		thyroid adenoma associated							230.0	229.0	229.0					2																	43768396		2019	4192	6211	SO:0001583	missense	63892						binding	g.chr2:43768396T>G	AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.3166A>C	2.37:g.43768396T>G	ENSP00000385995:p.Ser1056Arg					THADA_uc010far.2_Missense_Mutation_p.S325R|THADA_uc002rsx.3_Missense_Mutation_p.S1056R|THADA_uc002rsy.3_RNA|THADA_uc010fas.1_RNA|THADA_uc002rsz.2_Missense_Mutation_p.S765R|THADA_uc010fat.1_Missense_Mutation_p.S203R|THADA_uc002rta.2_Missense_Mutation_p.S766R	p.S1056R	NM_001083953	NP_001077422	Q6YHU6	THADA_HUMAN			21	3518	-		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)	1056					A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	ENST00000405006.4	37	c.3166A>C	CCDS46268.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.34|19.34	3.809481|3.809481	0.70797|0.70797	.|.	.|.	ENSG00000115970|ENSG00000115970	ENST00000407351|ENST00000330266;ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006	.|T;T;T;T	.|0.64803	.|-0.12;-0.12;-0.12;-0.12	5.67|5.67	5.67|5.67	0.87782|0.87782	.|Domain of unknown function DUF2428, death-receptor-like (1);Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.81494|0.81494	0.4834|0.4834	M|M	0.85462|0.85462	2.755|2.755	0.50039|0.50039	D|D	0.999847|0.999847	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.91635	.|0.994;0.999;0.993;0.999	D|D	0.84754|0.84754	0.0758|0.0758	5|10	.|0.87932	.|D	.|0	.|.	15.9154|15.9154	0.79512|0.79512	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|766;1057;766;1056	.|Q6YHU6-2;B6ZDQ0;C9JJB1;Q6YHU6	.|.;.;.;THADA_HUMAN	D|R	369|766;1056;1057;766;1056	.|ENSP00000331105:S766R;ENSP00000386088:S1056R;ENSP00000416048:S766R;ENSP00000385995:S1056R	.|ENSP00000331105:S766R	E|S	-|-	3|1	2|0	THADA|THADA	43621900|43621900	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	6.352000|6.352000	0.73027|0.73027	2.178000|2.178000	0.69098|0.69098	0.533000|0.533000	0.62120|0.62120	GAA|AGT		0.418	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065	
SLC9A4	389015	broad.mit.edu	37	2	103095704	103095704	+	Silent	SNP	C	C	T	rs115868705	byFrequency	TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr2:103095704C>T	ENST00000295269.4	+	2	1120	c.663C>T	c.(661-663)aaC>aaT	p.N221N		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	221					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CGCGCGTGAACGAGCAGCTCT	0.612													C|||	8	0.00159744	0.0061	0.0	5008	,	,		19315	0.0		0.0	False		,,,				2504	0.0					uc002tbz.3																			0				skin(2)|central_nervous_system(1)	3						c.(661-663)AAC>AAT		solute carrier family 9 (sodium/hydrogen		C		17,4389	24.3+/-50.5	0,17,2186	52.0	40.0	44.0		663	-10.5	0.0	2	dbSNP_132	44	0,8600		0,0,4300	no	coding-synonymous	SLC9A4	NM_001011552.3		0,17,6486	TT,TC,CC		0.0,0.3858,0.1307		221/799	103095704	17,12989	2203	4300	6503	SO:0001819	synonymous_variant	389015				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr2:103095704C>T		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"""Solute carriers"""	11077	protein-coding gene	gene with protein product		600531	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 4"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 4"""			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.663C>T	2.37:g.103095704C>T							p.N221N	NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN			2	1120	+			221			Cytoplasmic (Potential).		Q69YK0	Silent	SNP	ENST00000295269.4	37	c.663C>T	CCDS33264.1																																																																																				0.612	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3	
VIL1	7429	broad.mit.edu	37	2	219295468	219295468	+	Missense_Mutation	SNP	G	G	C			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr2:219295468G>C	ENST00000248444.5	+	10	1057	c.969G>C	c.(967-969)caG>caC	p.Q323H	VIL1_ENST00000392114.2_Missense_Mutation_p.Q12H|VIL1_ENST00000440053.1_Missense_Mutation_p.Q323H	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	323	Core.				actin filament capping (GO:0051693)|actin filament depolymerization (GO:0030042)|actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cytoplasmic actin-based contraction involved in cell motility (GO:0060327)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell migration (GO:0010634)|protein complex assembly (GO:0006461)|regulation of actin nucleation (GO:0051125)|regulation of cell shape (GO:0008360)|regulation of lamellipodium morphogenesis (GO:2000392)|regulation of wound healing (GO:0061041)|response to bacterium (GO:0009617)	actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|ruffle (GO:0001726)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|identical protein binding (GO:0042802)|lysophosphatidic acid binding (GO:0035727)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAGCCAAGCAGTACCCACCAA	0.557																																						uc002via.2																			0				ovary(1)	1						c.(967-969)CAG>CAC		villin 1							82.0	76.0	78.0					2																	219295468		2203	4300	6503	SO:0001583	missense	7429				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity	g.chr2:219295468G>C	X12901	CCDS2417.1	2q35	2012-10-02			ENSG00000127831	ENSG00000127831			12690	protein-coding gene	gene with protein product		193040		VIL		2846586	Standard	NM_007127		Approved	D2S1471	uc002via.3	P09327	OTTHUMG00000133112	ENST00000248444.5:c.969G>C	2.37:g.219295468G>C	ENSP00000248444:p.Gln323His					VIL1_uc010zke.1_Missense_Mutation_p.Q12H|VIL1_uc002vib.2_Missense_Mutation_p.Q323H|VIL1_uc002vic.1_Missense_Mutation_p.Q323H	p.Q323H	NM_007127	NP_009058	P09327	VILI_HUMAN		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	10	1034	+		Renal(207;0.0474)	323			Core.		B2R9A7|Q53S11|Q96AC8	Missense_Mutation	SNP	ENST00000248444.5	37	c.969G>C	CCDS2417.1	.	.	.	.	.	.	.	.	.	.	G	12.11	1.839406	0.32513	.	.	ENSG00000127831	ENST00000248444;ENST00000392114;ENST00000440053	T;T;T	0.56941	0.43;0.98;0.43	4.22	3.32	0.38043	Gelsolin domain (1);	0.495873	0.19685	N	0.108412	T	0.41789	0.1174	N	0.25890	0.77	0.33799	D	0.626469	P;P	0.45011	0.848;0.628	P;P	0.49451	0.611;0.516	T	0.52230	-0.8603	10	0.39692	T	0.17	-16.0304	3.4683	0.07558	0.0995:0.2157:0.5401:0.1447	.	323;323	Q96AC8;P09327	.;VILI_HUMAN	H	323;12;323	ENSP00000248444:Q323H;ENSP00000375962:Q12H;ENSP00000409270:Q323H	ENSP00000248444:Q323H	Q	+	3	2	VIL1	219003712	0.998000	0.40836	1.000000	0.80357	0.820000	0.46376	0.509000	0.22707	2.199000	0.70637	0.462000	0.41574	CAG		0.557	VIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256778.3	NM_007127	
JPH2	57158	broad.mit.edu	37	20	42788558	42788558	+	Missense_Mutation	SNP	G	G	C			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr20:42788558G>C	ENST00000372980.3	-	2	1741	c.869C>G	c.(868-870)aCc>aGc	p.T290S		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	290					calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport into cytosol (GO:0060402)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle tissue development (GO:0055024)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium-release channel activity (GO:0015278)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GCCCATGTAGGTCTCGGTGGT	0.701																																						uc002xli.1																			0					0						c.(868-870)ACC>AGC		junctophilin 2 isoform 1							56.0	50.0	52.0					20																	42788558		2203	4300	6503	SO:0001583	missense	57158				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr20:42788558G>C	AL034419	CCDS13325.1, CCDS13326.1	20q12-q13.11	2014-09-17			ENSG00000149596	ENSG00000149596			14202	protein-coding gene	gene with protein product		605267				10891348, 10949023	Standard	XM_006723832		Approved	JP-2	uc002xli.1	Q9BR39	OTTHUMG00000033037	ENST00000372980.3:c.869C>G	20.37:g.42788558G>C	ENSP00000362071:p.Thr290Ser						p.T290S	NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		2	1742	-		Myeloproliferative disorder(115;0.0122)	290			Cytoplasmic (Potential).		E1P5X1|O95913|Q5JY74|Q9UJN4	Missense_Mutation	SNP	ENST00000372980.3	37	c.869C>G	CCDS13325.1	.	.	.	.	.	.	.	.	.	.	g	6.740	0.505269	0.12822	.	.	ENSG00000149596	ENST00000372980	T	0.44482	0.92	2.98	2.0	0.26442	.	0.329105	0.30771	N	0.008907	T	0.27098	0.0664	L	0.34521	1.04	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.05402	-1.0887	10	0.36615	T	0.2	.	6.1465	0.20289	0.1063:0.1922:0.7016:0.0	.	290	Q9BR39	JPH2_HUMAN	S	290	ENSP00000362071:T290S	ENSP00000362071:T290S	T	-	2	0	JPH2	42221972	1.000000	0.71417	0.993000	0.49108	0.366000	0.29705	4.759000	0.62227	0.427000	0.26145	0.298000	0.19748	ACC		0.701	JPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080307.1		
CDH22	64405	broad.mit.edu	37	20	44828064	44828064	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr20:44828064G>A	ENST00000372262.3	-	7	1821	c.1421C>T	c.(1420-1422)gCg>gTg	p.A474V	CDH22_ENST00000537909.1_Missense_Mutation_p.A474V	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	474	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				CAGCTCACCCGCCTCCATGGC	0.667																																						uc002xrm.2																			0				ovary(4)|skin(1)	5						c.(1420-1422)GCG>GTG		cadherin 22 precursor							35.0	30.0	31.0					20																	44828064		2202	4299	6501	SO:0001583	missense	64405				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:44828064G>A	AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654		"""Cadherins / Major cadherins"""	13251	protein-coding gene	gene with protein product		609920	"""cadherin-like 22"""	C20orf25		8626716	Standard	NM_021248		Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.1421C>T	20.37:g.44828064G>A	ENSP00000361336:p.Ala474Val					CDH22_uc010ghk.1_Missense_Mutation_p.A474V	p.A474V	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN			7	1822	-		Myeloproliferative disorder(115;0.0122)	474			Extracellular (Potential).|Cadherin 4.		B9EGK7|O43205	Missense_Mutation	SNP	ENST00000372262.3	37	c.1421C>T	CCDS13395.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.170365	0.38315	.	.	ENSG00000149654	ENST00000372262;ENST00000537909	T;T	0.53857	0.6;0.6	4.47	3.52	0.40303	Cadherin (4);Cadherin-like (1);	0.120395	0.56097	N	0.000029	T	0.38295	0.1035	N	0.16790	0.44	0.58432	D	0.99999	P	0.51240	0.943	P	0.48770	0.589	T	0.09952	-1.0651	10	0.10377	T	0.69	.	10.262	0.43431	0.0922:0.0:0.9078:0.0	.	474	Q9UJ99	CAD22_HUMAN	V	474	ENSP00000361336:A474V;ENSP00000437790:A474V	ENSP00000361336:A474V	A	-	2	0	CDH22	44261471	1.000000	0.71417	0.989000	0.46669	0.020000	0.10135	4.175000	0.58263	1.232000	0.43678	-0.266000	0.10368	GCG		0.667	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080491.1	NM_021248	
USP16	10600	broad.mit.edu	37	21	30409731	30409731	+	Missense_Mutation	SNP	G	G	A	rs199586396		TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr21:30409731G>A	ENST00000334352.4	+	7	814	c.583G>A	c.(583-585)Gtg>Atg	p.V195M	USP16_ENST00000535828.1_Intron|USP16_ENST00000399976.2_Missense_Mutation_p.V195M|USP16_ENST00000399975.3_Missense_Mutation_p.V194M	NM_001032410.1	NP_001027582.1			ubiquitin specific peptidase 16											breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						CCAAATAACCGTGAAAGGACT	0.348																																					Melanoma(92;625 1444 27493 34101 44971)	uc002ymy.2																			0				ovary(2)|breast(1)|pancreas(1)	4						c.(583-585)GTG>ATG		ubiquitin specific protease 16 isoform a		G	MET/VAL,MET/VAL,MET/VAL	0,4406		0,0,2203	119.0	127.0	124.0		580,583,583	5.8	1.0	21		124	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense	USP16	NM_001001992.1,NM_001032410.1,NM_006447.2	21,21,21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	194/823,195/824,195/824	30409731	1,13005	2203	4300	6503	SO:0001583	missense	10600				cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr21:30409731G>A	AF126736	CCDS13583.1, CCDS42912.1	21q21	2008-04-11	2005-08-08		ENSG00000156256	ENSG00000156256		"""Ubiquitin-specific peptidases"""	12614	protein-coding gene	gene with protein product		604735	"""ubiquitin specific protease 16"""			12838346	Standard	NM_006447		Approved	Ubp-M	uc002ymy.3	Q9Y5T5	OTTHUMG00000078802	ENST00000334352.4:c.583G>A	21.37:g.30409731G>A	ENSP00000334808:p.Val195Met					USP16_uc002ymx.2_Missense_Mutation_p.V194M|USP16_uc002ymw.2_Missense_Mutation_p.V195M|USP16_uc011acm.1_Missense_Mutation_p.V180M|USP16_uc011acn.1_Intron|USP16_uc011aco.1_5'Flank	p.V195M	NM_006447	NP_006438	Q9Y5T5	UBP16_HUMAN			6	785	+			195						Missense_Mutation	SNP	ENST00000334352.4	37	c.583G>A	CCDS13583.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.937875	0.73557	0.0	1.16E-4	ENSG00000156256	ENST00000399975;ENST00000399976;ENST00000334352	T;T;T	0.08634	3.07;3.07;3.07	5.81	5.81	0.92471	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (1);	0.000000	0.85682	D	0.000000	T	0.30759	0.0775	M	0.65677	2.01	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.00348	-1.1799	10	0.72032	D	0.01	.	20.0627	0.97684	0.0:0.0:1.0:0.0	.	180;194;195	Q9Y5T5-3;Q9Y5T5-2;Q9Y5T5	.;.;UBP16_HUMAN	M	194;195;195	ENSP00000382857:V194M;ENSP00000382858:V195M;ENSP00000334808:V195M	ENSP00000334808:V195M	V	+	1	0	USP16	29331602	1.000000	0.71417	0.958000	0.39756	0.340000	0.28889	6.370000	0.73114	2.743000	0.94032	0.585000	0.79938	GTG		0.348	USP16-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171847.1		
FBLN1	2192	broad.mit.edu	37	22	45944523	45944524	+	Frame_Shift_Ins	INS	-	-	CCAC			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr22:45944523_45944524insCCAC	ENST00000327858.6	+	13	1567_1568	c.1472_1473insCCAC	c.(1471-1476)ggccacfs	p.-492fs	FBLN1_ENST00000402984.3_Frame_Shift_Ins_p.-530fs|FBLN1_ENST00000262722.7_Frame_Shift_Ins_p.-492fs|FBLN1_ENST00000340923.5_Frame_Shift_Ins_p.-492fs|FBLN1_ENST00000442170.2_Frame_Shift_Ins_p.-492fs|FBLN1_ENST00000348697.2_Frame_Shift_Ins_p.-492fs|FBLN1_ENST00000476366.1_Intron	NM_006486.2	NP_006477	P23142	FBLN1_HUMAN	fibulin 1						embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|viral process (GO:0016032)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|peptidase activator activity (GO:0016504)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CCCACCGGGGGCCACATCTGCT	0.644																																						uc003bgj.1																			0				ovary(1)|central_nervous_system(1)	2						c.(1471-1473)GGCfs		fibulin 1 isoform D																																				SO:0001589	frameshift_variant	2192				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr22:45944523_45944524insCCAC		CCDS14067.1, CCDS14068.1, CCDS14069.1, CCDS43028.1	22q13.31	2010-06-15			ENSG00000077942	ENSG00000077942		"""Fibulins"""	3600	protein-coding gene	gene with protein product		135820				2269669, 1400330	Standard	NM_006485		Approved	FBLN	uc003bgj.1	P23142	OTTHUMG00000151340	ENST00000327858.6:c.1473_1476dupCCAC	22.37:g.45944524_45944527dupCCAC	ENSP00000331544:p.His492fs					FBLN1_uc003bgg.1_Frame_Shift_Ins_p.G491fs|FBLN1_uc003bgh.2_Frame_Shift_Ins_p.G491fs|FBLN1_uc010gzz.2_Frame_Shift_Ins_p.G529fs|FBLN1_uc003bgi.1_Frame_Shift_Ins_p.G491fs	p.G491fs	NM_006486	NP_006477	P23142	FBLN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	13	1619_1620	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	491			EGF-like 8; calcium-binding.		B0QY42|B1AHL4|P23143|P23144|P37888|Q5TIC4|Q8TBH8|Q9HBQ5|Q9UC21|Q9UGR4|Q9UH41	Frame_Shift_Ins	INS	ENST00000327858.6	37	c.1472_1473insCCAC	CCDS14067.1																																																																																				0.644	FBLN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322287.1	NM_006486	
TUBGCP6	85378	broad.mit.edu	37	22	50657589	50657589	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr22:50657589G>A	ENST00000248846.5	-	20	4638	c.4534C>T	c.(4534-4536)Cac>Tac	p.H1512Y	TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000439308.2_3'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1512					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GCCTCCAGGTGCAGCTCCACG	0.642																																						uc003bkb.1																			0				ovary(2)|central_nervous_system(2)	4						c.(4534-4536)CAC>TAC		tubulin, gamma complex associated protein 6							46.0	40.0	42.0					22																	50657589		2203	4300	6503	SO:0001583	missense	85378				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr22:50657589G>A	AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"""gamma-tubulin complex component 6"""	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.4534C>T	22.37:g.50657589G>A	ENSP00000248846:p.His1512Tyr					TUBGCP6_uc003bka.1_Missense_Mutation_p.H599Y|TUBGCP6_uc010har.1_Missense_Mutation_p.H1504Y|TUBGCP6_uc010has.1_RNA	p.H1512Y	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)	20	5046	-		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1512					Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Missense_Mutation	SNP	ENST00000248846.5	37	c.4534C>T	CCDS14087.1	.	.	.	.	.	.	.	.	.	.	G	13.59	2.281712	0.40394	.	.	ENSG00000128159	ENST00000248846;ENST00000425018	T;T	0.08458	3.09;3.09	5.02	1.58	0.23477	.	1.285730	0.05014	N	0.471567	T	0.13286	0.0322	L	0.48642	1.525	0.19300	N	0.99998	P;P;P	0.51653	0.917;0.947;0.935	P;P;B	0.47827	0.486;0.558;0.422	T	0.32161	-0.9917	10	0.59425	D	0.04	.	8.1221	0.30978	0.0801:0.0:0.412:0.5079	.	1504;1512;1512	B2RWN4;Q96RT7;Q96RT7-3	.;GCP6_HUMAN;.	Y	1512;198	ENSP00000248846:H1512Y;ENSP00000405979:H198Y	ENSP00000248846:H1512Y	H	-	1	0	TUBGCP6	48999716	0.003000	0.15002	0.618000	0.29105	0.356000	0.29392	0.855000	0.27805	0.511000	0.28236	0.491000	0.48974	CAC		0.642	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461	
FGD5	152273	broad.mit.edu	37	3	14861427	14861427	+	Silent	SNP	G	G	A			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr3:14861427G>A	ENST00000285046.5	+	1	959	c.849G>A	c.(847-849)acG>acA	p.T283T	FGD5_ENST00000543601.1_Silent_p.T42T	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	283	Glu-rich.				actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						AAGAGGCCACGGGTGTCACAG	0.607																																						uc003bzc.2																			0				ovary(3)|kidney(1)|pancreas(1)	5						c.(847-849)ACG>ACA		FYVE, RhoGEF and PH domain containing 5							38.0	43.0	41.0					3																	14861427		2088	4229	6317	SO:0001819	synonymous_variant	152273				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr3:14861427G>A	AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.849G>A	3.37:g.14861427G>A						FGD5_uc011avk.1_Silent_p.T283T	p.T283T	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN			1	959	+			283			Glu-rich.		B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Silent	SNP	ENST00000285046.5	37	c.849G>A	CCDS46767.1																																																																																				0.607	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536	
TRANK1	9881	broad.mit.edu	37	3	36874402	36874402	+	Silent	SNP	C	C	T			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr3:36874402C>T	ENST00000429976.2	-	21	6787	c.6540G>A	c.(6538-6540)tcG>tcA	p.S2180S	TRANK1_ENST00000428977.2_Silent_p.S1630S|TRANK1_ENST00000301807.6_Silent_p.S1630S	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2180							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						AGTTCATTTTCGACTGAACTA	0.378																																						uc003cgj.2																			0				ovary(1)|central_nervous_system(1)	2						c.(4888-4890)TCG>TCA		lupus brain antigen 1																																				SO:0001819	synonymous_variant	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36874402C>T	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.6540G>A	3.37:g.36874402C>T							p.S1630S	NM_014831	NP_055646	O15050	TRNK1_HUMAN			12	5192	-			2180					Q8N8K0	Silent	SNP	ENST00000429976.2	37	c.4890G>A	CCDS46789.2																																																																																				0.378	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831	
ZKSCAN7	55888	broad.mit.edu	37	3	44611913	44611913	+	Missense_Mutation	SNP	A	A	C			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr3:44611913A>C	ENST00000273320.3	+	6	1740	c.1311A>C	c.(1309-1311)aaA>aaC	p.K437N	ZKSCAN7_ENST00000431636.1_Intron|RP11-944L7.5_ENST00000419137.1_Intron|ZKSCAN7_ENST00000341840.3_Intron|RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000426540.1_Missense_Mutation_p.K437N	NM_018651.2	NP_061121.2	Q9P0L1	ZKSC7_HUMAN	zinc finger with KRAB and SCAN domains 7	437					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										CAGGGGAAAAACCCTATGAAT	0.473																																						uc010hin.2																			0				ovary(2)	2						c.(1309-1311)AAA>AAC		zinc finger protein 167 isoform 1							39.0	42.0	41.0					3																	44611913		2203	4299	6502	SO:0001583	missense	55888				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44611913A>C	L32164, AY280798	CCDS2714.1, CCDS2715.1, CCDS74924.1	3p21.32	2013-01-09	2013-01-09	2013-01-09	ENSG00000196345	ENSG00000196345		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12955	protein-coding gene	gene with protein product			"""zinc finger protein 64"", ""zinc finger protein 448"", ""zinc finger protein 167"""	ZNF64, ZNF448, ZNF167		7814019, 1505991	Standard	XM_005265323		Approved	FLJ12738, ZSCAN39	uc003cnj.3	Q9P0L1	OTTHUMG00000133094	ENST00000273320.3:c.1311A>C	3.37:g.44611913A>C	ENSP00000273320:p.Lys437Asn					ZNF167_uc003cnh.2_RNA|ZNF167_uc003cni.2_Intron|ZNF167_uc010hio.2_Missense_Mutation_p.K286N|ZNF167_uc003cnj.2_Missense_Mutation_p.K437N|ZNF167_uc003cnk.2_Intron	p.K437N	NM_018651	NP_061121	Q9P0L1	ZN167_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0486)|Kidney(197;0.0609)	6	1699	+			437					A0PJV3|A8K5H0|Q6WL09|Q96FQ2	Missense_Mutation	SNP	ENST00000273320.3	37	c.1311A>C	CCDS2715.1	.	.	.	.	.	.	.	.	.	.	.	17.23	3.338033	0.60963	.	.	ENSG00000196345	ENST00000426540;ENST00000273320;ENST00000447279	T;T;T	0.26067	1.76;1.76;1.76	4.24	-3.02	0.05446	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.34959	N	0.003541	T	0.44953	0.1318	M	0.73598	2.24	0.29519	N	0.853623	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.47573	-0.9107	10	0.87932	D	0	-13.0084	12.4673	0.55766	0.7776:0.0:0.2224:0.0	.	307;437	A7MAY2;Q9P0L1	.;ZN167_HUMAN	N	437;437;286	ENSP00000395524:K437N;ENSP00000273320:K437N;ENSP00000405034:K286N	ENSP00000273320:K437N	K	+	3	2	ZNF167	44586917	0.019000	0.18553	0.915000	0.36163	0.985000	0.73830	-0.487000	0.06505	-0.567000	0.06046	0.528000	0.53228	AAA		0.473	ZKSCAN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256752.4	NM_018651	
AMT	275	broad.mit.edu	37	3	49455400	49455400	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr3:49455400C>T	ENST00000273588.3	-	8	1186	c.884G>A	c.(883-885)cGc>cAc	p.R295H	AMT_ENST00000538581.1_Missense_Mutation_p.R239H|AMT_ENST00000476226.1_5'UTR|AMT_ENST00000546031.1_Missense_Mutation_p.R198H|AMT_ENST00000458307.2_Missense_Mutation_p.R251H|AMT_ENST00000395338.2_Missense_Mutation_p.R295H	NM_000481.3	NP_000472.2	P48728	GCST_HUMAN	aminomethyltransferase	295					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|transaminase activity (GO:0008483)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Tetrahydrofolic acid(DB00116)	AGCTCGGCGGCGCTTCCCTGG	0.582																																						uc003cww.2																			0				ovary(1)	1						c.(883-885)CGC>CAC		aminomethyltransferase isoform 1 precursor	NADH(DB00157)|Tetrahydrofolic acid(DB00116)						18.0	18.0	18.0					3																	49455400		2203	4300	6503	SO:0001583	missense	275				glycine catabolic process	mitochondrion	aminomethyltransferase activity|transaminase activity	g.chr3:49455400C>T	D13811	CCDS2797.1, CCDS54583.1, CCDS54584.1, CCDS54585.1	3p21.2-p21.1	2014-09-17	2006-05-22		ENSG00000145020	ENSG00000145020	2.1.2.10		473	protein-coding gene	gene with protein product	"""glycine cleavage system protein T"""	238310	"""aminomethyltransferase (glycine cleavage system protein T)"""			1993704, 8188235	Standard	NM_000481		Approved	GCST, NKH	uc003cww.3	P48728	OTTHUMG00000156847	ENST00000273588.3:c.884G>A	3.37:g.49455400C>T	ENSP00000273588:p.Arg295His					AMT_uc011bcn.1_Intron|AMT_uc003cwx.2_Missense_Mutation_p.R295H|AMT_uc011bco.1_Missense_Mutation_p.R251H|AMT_uc003cwy.2_Missense_Mutation_p.R247H|AMT_uc011bcp.1_Missense_Mutation_p.R198H|AMT_uc011bcq.1_Missense_Mutation_p.R239H	p.R295H	NM_000481	NP_000472	P48728	GCST_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	8	1013	-			295					A8K3I5|B4DE61|B4DJQ0|E9PBG1|Q96IG6	Missense_Mutation	SNP	ENST00000273588.3	37	c.884G>A	CCDS2797.1	.	.	.	.	.	.	.	.	.	.	C	18.33	3.599246	0.66332	.	.	ENSG00000145020	ENST00000395338;ENST00000458307;ENST00000273588;ENST00000538581;ENST00000546031;ENST00000430521	D;D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75;-1.75	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	D	0.92658	0.7667	M	0.92833	3.35	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	P;D;P;P	0.72625	0.829;0.978;0.859;0.859	D	0.94013	0.7286	10	0.56958	D	0.05	-6.9289	15.3173	0.74092	0.0:1.0:0.0:0.0	.	239;251;295;295	B4DE61;B4DJQ0;E9PBG1;P48728	.;.;.;GCST_HUMAN	H	295;251;295;239;198;239	ENSP00000378747:R295H;ENSP00000415619:R251H;ENSP00000273588:R295H;ENSP00000443200:R239H;ENSP00000440672:R198H;ENSP00000388068:R239H	ENSP00000273588:R295H	R	-	2	0	AMT	49430404	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	6.697000	0.74603	2.211000	0.71520	0.462000	0.41574	CGC		0.582	AMT-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346216.2	NM_000481	
CACNA1D	776	broad.mit.edu	37	3	53531323	53531323	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr3:53531323C>T	ENST00000350061.5	+	2	723	c.212C>T	c.(211-213)aCc>aTc	p.T71I	CACNA1D_ENST00000422281.2_Missense_Mutation_p.T71I|CACNA1D_ENST00000288139.4_Missense_Mutation_p.T71I	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	71					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	ACTATGAGCACCTCTGCACCC	0.542																																						uc003dgv.3																			0				ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11						c.(211-213)ACC>ATC		calcium channel, voltage-dependent, L type,	Verapamil(DB00661)						120.0	133.0	128.0					3																	53531323		2203	4300	6503	SO:0001583	missense	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53531323C>T	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.212C>T	3.37:g.53531323C>T	ENSP00000288133:p.Thr71Ile					CACNA1D_uc003dgu.3_Missense_Mutation_p.T71I|CACNA1D_uc003dgy.3_Missense_Mutation_p.T71I	p.T71I	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	2	375	+			71			Cytoplasmic (Potential).		B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	c.212C>T	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	C	15.81	2.942639	0.53079	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281	D;D;D	0.96104	-3.87;-3.91;-3.89	5.61	5.61	0.85477	.	0.447611	0.21105	N	0.080096	D	0.92159	0.7514	N	0.24115	0.695	0.80722	D	1	B;B;B	0.17667	0.013;0.009;0.023	B;B;B	0.15484	0.006;0.008;0.013	D	0.87405	0.2372	10	0.54805	T	0.06	.	19.6372	0.95737	0.0:1.0:0.0:0.0	.	71;71;71	B0FYA3;Q01668;Q01668-2	.;CAC1D_HUMAN;.	I	71	ENSP00000288133:T71I;ENSP00000288139:T71I;ENSP00000409174:T71I	ENSP00000288139:T71I	T	+	2	0	CACNA1D	53506363	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.765000	0.62271	2.642000	0.89623	0.561000	0.74099	ACC		0.542	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720	
GCSAM	257144	broad.mit.edu	37	3	111846908	111846908	+	Splice_Site	SNP	T	T	C			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr3:111846908T>C	ENST00000308910.4	-	3	283	c.99A>G	c.(97-99)agA>agG	p.R33R	C3orf52_ENST00000467942.2_Intron|GCSAM_ENST00000484193.1_Splice_Site_p.R35R	NM_001190259.1|NM_001190260.1|NM_152785.4	NP_001177188.1|NP_001177189.1|NP_689998.1	Q8N6F7	GCSAM_HUMAN	germinal center-associated, signaling and motility	33					negative regulation of lymphocyte migration (GO:2000402)|regulation of B cell receptor signaling pathway (GO:0050855)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|myosin II binding (GO:0045159)|protein kinase binding (GO:0019901)										GATCCCAGCATCTAAAATACC	0.408																																						uc003dys.1																			0					0						c.(97-99)AGA>AGG		germinal center expressed transcript 2 isoform							126.0	113.0	117.0					3																	111846908		2203	4300	6503	SO:0001630	splice_region_variant	257144					mitochondrion		g.chr3:111846908T>C	BC030506	CCDS2964.1, CCDS54621.1, CCDS54622.1	3q13.13	2012-09-03	2012-08-23	2012-08-23	ENSG00000174500	ENSG00000174500			20253	protein-coding gene	gene with protein product	"""human germinal center-associated lymphoma"""	607792	"""germinal center expressed transcript 2"""	GCET2			Standard	NM_152785		Approved	MGC40441, HGAL	uc021xcl.1	Q8N6F7	OTTHUMG00000159231	ENST00000308910.4:c.99-1A>G	3.37:g.111846908T>C						C3orf52_uc011bht.1_Intron|C3orf52_uc003dyr.1_Intron|GCET2_uc003dyt.1_5'UTR	p.R33R	NM_152785	NP_689998	Q8N6F7	GCET2_HUMAN			3	249	-			33					C9JD17|C9JUG6	Silent	SNP	ENST00000308910.4	37	c.99A>G	CCDS2964.1																																																																																				0.408	GCSAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353967.2	NM_152785	Silent
SLC9C1	285335	broad.mit.edu	37	3	111898484	111898484	+	Missense_Mutation	SNP	G	G	A	rs572197977	byFrequency	TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr3:111898484G>A	ENST00000305815.5	-	23	3065	c.2813C>T	c.(2812-2814)cCg>cTg	p.P938L	SLC9C1_ENST00000487372.1_Missense_Mutation_p.P890L	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	938					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										GTCAATTATCGGAAAATCTTT	0.358													G|||	6	0.00119808	0.0	0.0	5008	,	,		14907	0.0		0.0	False		,,,				2504	0.0061					uc003dyu.2																			0				ovary(3)|breast(2)	5						c.(2812-2814)CCG>CTG		sperm-specific sodium proton exchanger							87.0	87.0	87.0					3																	111898484		2202	4299	6501	SO:0001583	missense	285335				cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity	g.chr3:111898484G>A	AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"""Solute carriers"""	31401	protein-coding gene	gene with protein product	"""sperm-NHE"""	612738	"""solute carrier family 9, isoform 10"", ""solute carrier family 9, member 10"""	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.2813C>T	3.37:g.111898484G>A	ENSP00000306627:p.Pro938Leu					SLC9A10_uc011bhu.1_Missense_Mutation_p.P201L|SLC9A10_uc010hqc.2_Missense_Mutation_p.P890L	p.P938L	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN			23	3035	-			938			cNMP.		Q6ZRP4|Q7RTP2	Missense_Mutation	SNP	ENST00000305815.5	37	c.2813C>T	CCDS33817.1	.	.	.	.	.	.	.	.	.	.	G	4.333	0.061279	0.08339	.	.	ENSG00000172139	ENST00000305815;ENST00000487372	T;T	0.77877	-1.13;-1.13	4.59	-0.581	0.11713	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	1.138080	0.06582	N	0.750532	T	0.67878	0.2940	L	0.36672	1.1	0.09310	N	1	B;B	0.11235	0.002;0.004	B;B	0.08055	0.003;0.003	T	0.50816	-0.8783	10	0.33940	T	0.23	-17.8003	9.9447	0.41602	0.1091:0.0:0.6643:0.2266	.	890;938	Q4G0N8-2;Q4G0N8	.;S9A10_HUMAN	L	938;890	ENSP00000306627:P938L;ENSP00000420688:P890L	ENSP00000306627:P938L	P	-	2	0	SLC9A10	113381174	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.545000	0.06069	-0.362000	0.08113	-1.303000	0.01326	CCG		0.358	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1	NM_183061	
PIK3CA	5290	broad.mit.edu	37	3	178916876	178916876	+	Missense_Mutation	SNP	G	G	A	rs121913287		TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr3:178916876G>A	ENST00000263967.3	+	2	420	c.263G>A	c.(262-264)cGa>cAa	p.R88Q		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	88	PI3K-ABD. {ECO:0000255|PROSITE- ProRule:PRU00877}.		R -> Q (in MCAP; also found in a glioblastoma multiforme sample; may disrupt the interaction between the PI3K- ABD domain and the N-terminal lobe of PI3K/PI4K kinase domain possibly affecting the conformation of the kinase domain). {ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.R88Q(53)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	GAAACAAGACGACTTTGTGAC	0.363	R88Q(JHUEM1_ENDOMETRIUM)|R88Q(SKUT1_SOFT_TISSUE)|R88Q(SNGM_ENDOMETRIUM)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2	R88Q(SKUT1_SOFT_TISSUE)|R88Q(JHUEM1_ENDOMETRIUM)|R88Q(SNGM_ENDOMETRIUM)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		53	Substitution - Missense(53)	p.R88Q(26)	endometrium(27)|large_intestine(13)|central_nervous_system(8)|cervix(3)|soft_tissue(1)|breast(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(262-264)CGA>CAA		phosphoinositide-3-kinase, catalytic, alpha							107.0	102.0	104.0					3																	178916876		1821	4078	5899	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178916876G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.263G>A	3.37:g.178916876G>A	ENSP00000263967:p.Arg88Gln	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.R88Q	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		2	420	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		88		R -> Q (in cancer; may disrupt the interaction between the PI3K-ABD domain and the N-terminal lobe of PI3K/PI4K kinase domain possibly affecting the conformation of the kinase domain).	PI3K-ABD.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.263G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.971870	0.92919	.	.	ENSG00000121879	ENST00000263967;ENST00000468036	T;T	0.80033	-1.33;-1.33	5.44	5.44	0.79542	Phosphatidylinositol 3-kinase, p85-binding (2);	0.000000	0.85682	D	0.000000	D	0.89079	0.6613	M	0.72353	2.195	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	D	0.88404	0.3017	9	.	.	.	-14.8194	19.2635	0.93977	0.0:0.0:1.0:0.0	.	88	P42336	PK3CA_HUMAN	Q	88	ENSP00000263967:R88Q;ENSP00000417479:R88Q	.	R	+	2	0	PIK3CA	180399570	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.571000	0.82399	2.547000	0.85894	0.555000	0.69702	CGA		0.363	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		
PIK3CA	5290	broad.mit.edu	37	3	178916936	178916936	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr3:178916936G>A	ENST00000263967.3	+	2	480	c.323G>A	c.(322-324)cGt>cAt	p.R108H		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	108					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.R108H(11)|p.R108L(2)|p.G106_R108delGNR(2)|p.G106_R108del(2)|p.R108P(1)|p.R108del(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	GTAGGCAACCGTGAAGAAAAG	0.338		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		19	Substitution - Missense(14)|Deletion - In frame(5)	p.R108H(5)|p.G106_R108del(2)|p.R108P(1)|p.R108del(1)	endometrium(7)|large_intestine(5)|lung(4)|breast(2)|central_nervous_system(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(322-324)CGT>CAT		phosphoinositide-3-kinase, catalytic, alpha							87.0	82.0	84.0					3																	178916936		1822	4071	5893	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178916936G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.323G>A	3.37:g.178916936G>A	ENSP00000263967:p.Arg108His	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.R108H	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		2	480	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		108			PI3K-ABD.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.323G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.677294	0.88445	.	.	ENSG00000121879	ENST00000263967;ENST00000468036	T;T	0.74209	0.8;-0.82	5.52	5.52	0.82312	Phosphatidylinositol 3-kinase, p85-binding (2);	0.000000	0.85682	D	0.000000	D	0.84808	0.5554	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	D	0.83714	0.0189	9	.	.	.	-11.9048	19.4271	0.94746	0.0:0.0:1.0:0.0	.	108	P42336	PK3CA_HUMAN	H	108	ENSP00000263967:R108H;ENSP00000417479:R108H	.	R	+	2	0	PIK3CA	180399630	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.630000	0.83225	2.584000	0.87258	0.555000	0.69702	CGT		0.338	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		
MUC4	4585	broad.mit.edu	37	3	195484190	195484190	+	Missense_Mutation	SNP	G	G	A	rs367749099		TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr3:195484190G>A	ENST00000346145.4	-	17	2327	c.2288C>T	c.(2287-2289)aCg>aTg	p.T763M	MUC4_ENST00000475231.1_Missense_Mutation_p.T4947M|MUC4_ENST00000463781.3_Missense_Mutation_p.T4999M|MUC4_ENST00000349607.4_Missense_Mutation_p.T712M	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1756					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CCACAGCAACGTCCCATTCTC	0.572																																						uc011bto.1																			0					0						c.(14611-14613)ACG>ATG		mucin 4 isoform a		G	MET/THR,MET/THR,MET/THR	1,4405		0,1,2202	81.0	74.0	77.0		2288,14996,2135	3.3	0.3	3		77	0,8600		0,0,4300	no	missense,missense,missense	MUC4	NM_004532.5,NM_018406.6,NM_138297.4	81,81,81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	763/1177,4999/5413,712/1126	195484190	1,13005	2203	4300	6503	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195484190G>A	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000346145.4:c.2288C>T	3.37:g.195484190G>A	ENSP00000304207:p.Thr763Met					MUC4_uc003fuz.2_Missense_Mutation_p.T597M|MUC4_uc003fva.2_Missense_Mutation_p.T479M|MUC4_uc003fvb.2_Missense_Mutation_p.T515M|MUC4_uc003fvc.2_RNA|MUC4_uc003fvd.2_RNA|MUC4_uc003fve.2_Missense_Mutation_p.T515M|MUC4_uc010hzr.2_RNA|MUC4_uc011btf.1_Missense_Mutation_p.T479M|MUC4_uc011btg.1_RNA|MUC4_uc011bth.1_Missense_Mutation_p.T563M|MUC4_uc011bti.1_Missense_Mutation_p.T563M|MUC4_uc011btj.1_Missense_Mutation_p.T740M|MUC4_uc011btk.1_Missense_Mutation_p.T479M|MUC4_uc011btl.1_Missense_Mutation_p.T508M|MUC4_uc011btm.1_Missense_Mutation_p.T688M|MUC4_uc011btn.1_Missense_Mutation_p.T479M|MUC4_uc003fvo.2_Missense_Mutation_p.T763M|MUC4_uc003fvp.2_Missense_Mutation_p.T712M	p.T4871M	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	19	15072	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	1756					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000346145.4	37	c.14612C>T	CCDS3310.1	.	.	.	.	.	.	.	.	.	.	.	10.21	1.287525	0.23478	2.27E-4	0.0	ENSG00000145113	ENST00000349607;ENST00000346145;ENST00000463781;ENST00000475231;ENST00000392409	T;T;T;T	0.43294	0.95;1.31;1.21;1.27	5.12	3.29	0.37713	.	0.247105	0.28151	N	0.016409	T	0.54854	0.1884	M	0.62723	1.935	0.09310	N	1	D;P;P;D;D;D	0.89917	1.0;0.932;0.932;1.0;1.0;0.992	D;B;B;P;P;P	0.68621	0.959;0.373;0.373;0.869;0.869;0.593	T	0.45071	-0.9286	10	0.72032	D	0.01	-8.1871	6.7316	0.23387	0.0988:0.1883:0.713:0.0	.	4871;712;763;4999;4947;1704	E7ESK3;Q99102-12;Q99102-13;E9PDY6;E7ENC5;Q99102-10	.;.;.;.;.;.	M	712;763;4999;4947;1499	ENSP00000338109:T712M;ENSP00000304207:T763M;ENSP00000417498:T4999M;ENSP00000420243:T4947M	ENSP00000304207:T763M	T	-	2	0	MUC4	196969861	0.858000	0.29795	0.303000	0.25071	0.459000	0.32528	2.412000	0.44609	0.527000	0.28560	0.556000	0.70494	ACG		0.572	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341862.1	NM_018406	
MFSD7	84179	broad.mit.edu	37	4	680077	680077	+	Silent	SNP	C	C	T	rs371460109		TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr4:680077C>T	ENST00000404286.2	-	3	324	c.309G>A	c.(307-309)gcG>gcA	p.A103A	MFSD7_ENST00000347950.5_Intron|MFSD7_ENST00000515118.1_Intron|MFSD7_ENST00000513740.1_Intron|MFSD7_ENST00000503156.1_Silent_p.A39A|MFSD7_ENST00000322224.4_Silent_p.A103A	NM_032219.2	NP_115595.2	Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing 7	103					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						AGTTCAGCCACGCACCCAGGA	0.652																																						uc003gay.2																			0					0						c.(307-309)GCG>GCA		major facilitator superfamily domain containing		T		0,4404		0,0,2202	52.0	52.0	52.0		309	-9.3	0.0	4		52	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	MFSD7	NM_032219.2		0,1,6500	TT,TC,CC		0.0116,0.0,0.0077		103/560	680077	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	84179				transmembrane transport	integral to membrane		g.chr4:680077C>T	AK025922	CCDS3338.1, CCDS75086.1	4p16.3	2013-05-22			ENSG00000169026	ENSG00000169026		"""Solute carriers"""	26177	protein-coding gene	gene with protein product						12975309	Standard	XM_005272295		Approved	FLJ22269, LP2561	uc003gax.3	Q6UXD7	OTTHUMG00000119001	ENST00000404286.2:c.309G>A	4.37:g.680077C>T						MFSD7_uc003gaw.2_5'Flank|MFSD7_uc003gax.2_Silent_p.A103A|MFSD7_uc003gaz.2_Intron|MFSD7_uc003gba.2_Intron|MFSD7_uc003gbb.1_Silent_p.A39A	p.A103A	NM_032219	NP_115595	Q6UXD7	MFSD7_HUMAN			3	366	-			103			Helical; (Potential).		A8K7J5|Q6XYD4|Q8N6H1|Q9H6H6	Silent	SNP	ENST00000404286.2	37	c.309G>A																																																																																					0.652	MFSD7-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000358585.1	NM_032219	
KDR	3791	broad.mit.edu	37	4	55961059	55961059	+	Missense_Mutation	SNP	G	G	A	rs530419081		TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr4:55961059G>A	ENST00000263923.4	-	21	3176	c.2881C>T	c.(2881-2883)Cgg>Tgg	p.R961W	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	961	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.R961W(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TCCAAGCGCCGTTTCAGATCC	0.488			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			G|||	1	0.000199681	0.0	0.0	5008	,	,		18407	0.0		0.0	False		,,,				2504	0.001					uc003has.2				Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			NSCLC|angiosarcoma		1	Substitution - Missense(1)		breast(1)	lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33						c.(2881-2883)CGG>TGG		kinase insert domain receptor precursor	Sorafenib(DB00398)|Sunitinib(DB01268)						122.0	112.0	115.0					4																	55961059		2203	4300	6503	SO:0001583	missense	3791	Familial_Infantile_Hemangioma			angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55961059G>A	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.2881C>T	4.37:g.55961059G>A	ENSP00000263923:p.Arg961Trp	TSP Lung(20;0.16)				KDR_uc003hat.1_Missense_Mutation_p.R961W	p.R961W	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		21	3183	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		961			Protein kinase.|Cytoplasmic (Potential).		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	c.2881C>T	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.111932	0.77210	.	.	ENSG00000128052	ENST00000263923	T	0.77620	-1.11	5.87	4.08	0.47627	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.331135	0.32258	N	0.006349	T	0.77011	0.4068	L	0.42245	1.32	0.38997	D	0.959262	D	0.76494	0.999	P	0.53185	0.72	T	0.78303	-0.2256	10	0.72032	D	0.01	.	9.5094	0.39067	0.0669:0.0:0.679:0.2541	.	961	P35968	VGFR2_HUMAN	W	961	ENSP00000263923:R961W	ENSP00000263923:R961W	R	-	1	2	KDR	55655816	1.000000	0.71417	0.974000	0.42286	0.668000	0.39293	3.418000	0.52721	0.755000	0.32990	0.655000	0.94253	CGG		0.488	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1		
FBN2	2201	broad.mit.edu	37	5	127623046	127623046	+	Silent	SNP	C	C	T	rs374853253		TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr5:127623046C>T	ENST00000508053.1	-	60	7808	c.6834G>A	c.(6832-6834)acG>acA	p.T2278T	FBN2_ENST00000262464.4_Silent_p.T2278T			P35556	FBN2_HUMAN	fibrillin 2	2278	EGF-like 38; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.		T -> M (in dbSNP:rs2307109).		anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CAATCGGGCACGTGCATTCAT	0.483																																						uc003kuu.2																			0				ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.(6832-6834)ACG>ACA		fibrillin 2 precursor		C		0,4406		0,0,2203	169.0	155.0	160.0		6834	-10.7	0.0	5		160	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FBN2	NM_001999.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		2278/2913	127623046	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127623046C>T	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.6834G>A	5.37:g.127623046C>T							p.T2278T	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	54	7273	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	2278			EGF-like 38; calcium-binding.		B4DU01|Q59ES6	Silent	SNP	ENST00000508053.1	37	c.6834G>A	CCDS34222.1																																																																																				0.483	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999	
WNT8A	7478	broad.mit.edu	37	5	137426568	137426568	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr5:137426568C>T	ENST00000398754.1	+	6	867	c.862C>T	c.(862-864)Cgt>Tgt	p.R288C	WNT8A_ENST00000506684.1_Missense_Mutation_p.R306C	NM_058244.2	NP_490645.1	Q9H1J5	WNT8A_HUMAN	wingless-type MMTV integration site family, member 8A	288					canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:0061317)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|endoderm development (GO:0007492)|establishment of organ orientation (GO:0048561)|neural crest cell fate commitment (GO:0014034)|neuron differentiation (GO:0030182)|palate development (GO:0060021)|polarity specification of anterior/posterior axis (GO:0009949)|polarity specification of proximal/distal axis (GO:0010085)|regulation of protein localization (GO:0032880)|regulation of transcription involved in anterior/posterior axis specification (GO:0044324)|response to retinoic acid (GO:0032526)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GTGGGAGCGACGTAGCTGTGG	0.542																																						uc003lcd.1																			0				ovary(1)|lung(1)|breast(1)|skin(1)	4						c.(862-864)CGT>TGT		wingless-type MMTV integration site family,							103.0	109.0	107.0					5																	137426568		2100	4235	6335	SO:0001583	missense	7478				brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity	g.chr5:137426568C>T	AB057725	CCDS43368.1, CCDS75311.1	5q31	2008-07-18			ENSG00000061492	ENSG00000061492		"""Wingless-type MMTV integration sites"""	12788	protein-coding gene	gene with protein product		606360				11408932	Standard	XM_005272076		Approved	WNT8D	uc003lcd.1	Q9H1J5	OTTHUMG00000129196	ENST00000398754.1:c.862C>T	5.37:g.137426568C>T	ENSP00000381739:p.Arg288Cys					BRD8_uc003lcc.1_Intron|WNT8A_uc011cyj.1_Missense_Mutation_p.R306C|WNT8A_uc011cyk.1_Missense_Mutation_p.R306C	p.R288C	NM_058244	NP_490645	Q9H1J5	WNT8A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		6	867	+			288					Q96S51	Missense_Mutation	SNP	ENST00000398754.1	37	c.862C>T	CCDS43368.1	.	.	.	.	.	.	.	.	.	.	C	8.465	0.856286	0.17106	.	.	ENSG00000061492	ENST00000506684;ENST00000504809;ENST00000398754	T;T;T	0.76578	-1.03;-1.03;-1.03	4.96	2.08	0.27032	.	0.386304	0.25695	N	0.028904	T	0.72510	0.3469	M	0.73962	2.25	0.22918	N	0.998565	B;B;B	0.26602	0.154;0.154;0.015	B;B;B	0.27715	0.082;0.082;0.002	T	0.65158	-0.6236	10	0.59425	D	0.04	.	4.8389	0.13478	0.2244:0.53:0.0:0.2457	.	306;306;288	D6RF47;D6RF94;Q9H1J5	.;.;WNT8A_HUMAN	C	306;306;288	ENSP00000426653:R306C;ENSP00000424809:R306C;ENSP00000381739:R288C	ENSP00000354726:R288C	R	+	1	0	WNT8A	137454467	0.000000	0.05858	0.002000	0.10522	0.615000	0.37417	0.002000	0.13061	0.233000	0.21120	-0.459000	0.05422	CGT		0.542	WNT8A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280395.1	NM_058244	
DND1	373863	broad.mit.edu	37	5	140052370	140052370	+	Silent	SNP	G	G	A			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr5:140052370G>A	ENST00000542735.1	-	3	307	c.264C>T	c.(262-264)cgC>cgT	p.R88R		NM_194249.2	NP_919225.1	Q8IYX4	DND1_HUMAN	DND microRNA-mediated repression inhibitor 1	88	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of gene silencing by miRNA (GO:0060965)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)			central_nervous_system(1)|prostate(4)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCATCATCAGGCGGAACTCGT	0.667																																						uc003lgt.2																			0					0						c.(262-264)CGC>CGT		dead end homolog 1							11.0	15.0	14.0					5																	140052370		2176	4275	6451	SO:0001819	synonymous_variant	373863				multicellular organismal development|negative regulation of gene silencing by miRNA	cytoplasm|nucleus	AU-rich element binding|nucleotide binding	g.chr5:140052370G>A	AY321065	CCDS4236.1	5q31.3	2013-07-31	2013-07-31		ENSG00000256453	ENSG00000256453		"""RNA binding motif (RRM) containing"""	23799	protein-coding gene	gene with protein product		609385	"""dead end homolog 1 (zebrafish)"""			12932328	Standard	NM_194249		Approved	MGC34750, RBMS4	uc003lgt.3	Q8IYX4	OTTHUMG00000129499	ENST00000542735.1:c.264C>T	5.37:g.140052370G>A							p.R88R	NM_194249	NP_919225	Q8IYX4	DND1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	308	-			88			RRM 1.			Silent	SNP	ENST00000542735.1	37	c.264C>T	CCDS4236.1																																																																																				0.667	DND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251669.2	NM_194249	
GABRB2	2561	broad.mit.edu	37	5	160721276	160721276	+	Missense_Mutation	SNP	A	A	G			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr5:160721276A>G	ENST00000393959.1	-	10	1350	c.1351T>C	c.(1351-1353)Ttt>Ctt	p.F451L	GABRB2_ENST00000517547.1_Missense_Mutation_p.F253L|GABRB2_ENST00000353437.6_Missense_Mutation_p.F413L|GABRB2_ENST00000520240.1_Missense_Mutation_p.F413L|GABRB2_ENST00000274547.2_Missense_Mutation_p.F451L|GABRB2_ENST00000517901.1_Missense_Mutation_p.F350L			P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	451					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|GABA-A receptor activity (GO:0004890)|inhibitory extracellular ligand-gated ion channel activity (GO:0005237)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TTTCGGCCAAAACTATGCCTG	0.527																																						uc003lys.1																			0					0						c.(1351-1353)TTT>CTT		gamma-aminobutyric acid (GABA) A receptor, beta	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						108.0	96.0	100.0					5																	160721276		2203	4300	6503	SO:0001583	missense	2561				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity	g.chr5:160721276A>G		CCDS4354.1, CCDS4355.1	5q34	2012-06-22			ENSG00000145864	ENSG00000145864		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4082	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 2"""	600232				7851879	Standard	NM_000813		Approved		uc003lys.1	P47870	OTTHUMG00000130349	ENST00000393959.1:c.1351T>C	5.37:g.160721276A>G	ENSP00000377531:p.Phe451Leu					GABRB2_uc011deh.1_Missense_Mutation_p.F252L|GABRB2_uc003lyr.1_Missense_Mutation_p.F413L|GABRB2_uc003lyt.1_Missense_Mutation_p.F413L|GABRB2_uc010jiu.1_Missense_Mutation_p.F350L	p.F451L	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		11	1569	-	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	451			Cytoplasmic (Probable).		A8K115|A8K1A0|D1LYT0|D1LYT1|Q16323|Q4FZB2	Missense_Mutation	SNP	ENST00000393959.1	37	c.1351T>C	CCDS4355.1	.	.	.	.	.	.	.	.	.	.	A	12.86	2.063706	0.36373	.	.	ENSG00000145864	ENST00000393959;ENST00000274547;ENST00000353437;ENST00000520240;ENST00000517901;ENST00000517547	D;D;D;D;D;D	0.84944	-1.92;-1.92;-1.88;-1.88;-1.88;-1.88	5.74	5.74	0.90152	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.446895	0.27922	N	0.017318	T	0.76877	0.4049	L	0.28400	0.85	0.47511	D	0.999446	B;B;B;B	0.10296	0.003;0.0;0.001;0.0	B;B;B;B	0.09377	0.004;0.001;0.004;0.001	T	0.71391	-0.4607	10	0.10111	T	0.7	.	16.0383	0.80645	1.0:0.0:0.0:0.0	.	253;350;451;413	B7Z279;E7EV50;P47870;P47870-1	.;.;GBRB2_HUMAN;.	L	451;451;413;413;350;253	ENSP00000377531:F451L;ENSP00000274547:F451L;ENSP00000274546:F413L;ENSP00000429320:F413L;ENSP00000430532:F350L;ENSP00000429750:F253L	ENSP00000274547:F451L	F	-	1	0	GABRB2	160653854	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.189000	0.77747	2.192000	0.70111	0.528000	0.53228	TTT		0.527	GABRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252704.1		
NOP16	51491	broad.mit.edu	37	5	175811029	175811030	+	3'UTR	INS	-	-	C			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr5:175811029_175811030insC	ENST00000389158.5	-	0	1174_1175				NOP16_ENST00000507413.1_3'UTR|NOP16_ENST00000510123.1_Frame_Shift_Ins_p.F217fs			Q9Y3C1	NOP16_HUMAN	NOP16 nucleolar protein							intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	8						TTTTCCGTGAACCCCCAGATGA	0.436																																						uc003mee.2																			0				ovary(1)|central_nervous_system(1)	2						c.(649-654)GGGTTCfs		SubName: Full=NOP16 protein; SubName: Full=Putative uncharacterized protein HSPC111;																																				SO:0001624	3_prime_UTR_variant	51491					nucleolus		g.chr5:175811029_175811030insC		CCDS43403.1, CCDS58991.1	5q35.2	2012-12-10	2012-12-10		ENSG00000048162	ENSG00000048162			26934	protein-coding gene	gene with protein product	"""hypothetical protein HSPC111"", ""HBV pre-S2 trans-regulated protein 3"""	612861	"""nucleolar protein 16 homolog (yeast)"", ""NOP16 nucleolar protein homolog (yeast)"""			10810093, 11042152	Standard	NM_001291308		Approved	HSPC111, HSPC185, LOC51491	uc003mee.4	Q9Y3C1	OTTHUMG00000163186	ENST00000389158.5:c.*203->G	5.37:g.175811034_175811034dupC						NOP16_uc003med.2_Frame_Shift_Ins_p.G216fs	p.G217fs			Q9Y3C1	NOP16_HUMAN			5	651_652	-			Error:Variant_position_missing_in_Q9Y3C1_after_alignment					B4DV13|D6RGD3|Q05D05|Q6IAI6|Q8IXL5	Frame_Shift_Ins	INS	ENST00000389158.5	37	c.651_652insG	CCDS43403.1																																																																																				0.436	NOP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371963.1	NM_016391	
ZNF451	26036	broad.mit.edu	37	6	57013164	57013164	+	Missense_Mutation	SNP	A	A	G			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr6:57013164A>G	ENST00000370706.4	+	10	2525	c.2281A>G	c.(2281-2283)Aca>Gca	p.T761A	RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000586466.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.T761A|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000589263.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.T761A	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	761					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			ATGTTCGGCAACAGCACAGAA	0.408																																						uc003pdm.1																			0				ovary(1)|pancreas(1)	2						c.(2281-2283)ACA>GCA		zinc finger protein 451 isoform 1							80.0	72.0	75.0					6																	57013164		2203	4300	6503	SO:0001583	missense	26036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:57013164A>G	AB011148	CCDS4960.1, CCDS43477.1, CCDS59026.1	6p12.1	2012-08-08			ENSG00000112200	ENSG00000112200		"""Zinc fingers, C2H2-type"""	21091	protein-coding gene	gene with protein product		615708				9628581	Standard	NM_001031623		Approved	KIAA0576, COASTER, dJ417I1.1, KIAA1702	uc003pdm.2	Q9Y4E5	OTTHUMG00000014916	ENST00000370706.4:c.2281A>G	6.37:g.57013164A>G	ENSP00000359740:p.Thr761Ala					ZNF451_uc003pdl.2_Missense_Mutation_p.T761A|ZNF451_uc003pdn.1_Missense_Mutation_p.T761A|uc003pdq.1_Intron|ZNF451_uc003pdk.1_Missense_Mutation_p.T761A	p.T761A	NM_001031623	NP_001026794	Q9Y4E5	ZN451_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)		10	2505	+	Lung NSC(77;0.145)		761			C2H2-type 10.		Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1	Missense_Mutation	SNP	ENST00000370706.4	37	c.2281A>G	CCDS43477.1	.	.	.	.	.	.	.	.	.	.	A	14.89	2.670483	0.47781	.	.	ENSG00000112200	ENST00000370706;ENST00000357489;ENST00000491832	T;T;T	0.19669	2.14;2.13;2.14	4.99	4.99	0.66335	Zinc finger, C2H2-like (1);	0.056296	0.64402	D	0.000001	T	0.33498	0.0865	M	0.66939	2.045	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.964;1.0	D;D;P;D	0.87578	0.997;0.998;0.88;0.998	T	0.04855	-1.0922	10	0.33940	T	0.23	-15.8057	14.9651	0.71184	1.0:0.0:0.0:0.0	.	761;761;761;761	Q9Y4E5-2;Q9Y4E5;E9PH99;Q4KMR5	.;ZN451_HUMAN;.;.	A	761	ENSP00000359740:T761A;ENSP00000350083:T761A;ENSP00000421645:T761A	ENSP00000350083:T761A	T	+	1	0	ZNF451	57121123	1.000000	0.71417	0.994000	0.49952	0.188000	0.23474	5.319000	0.65835	1.984000	0.57885	0.455000	0.32223	ACA		0.408	ZNF451-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041035.2	NM_015555	
KHDC3L	154288	broad.mit.edu	37	6	74073368	74073368	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr6:74073368C>T	ENST00000370367.3	+	3	492	c.439C>T	c.(439-441)Cgt>Tgt	p.R147C		NM_001017361.2	NP_001017361.1	Q587J8	KHD3L_HUMAN	KH domain containing 3-like, subcortical maternal complex member	147							RNA binding (GO:0003723)										CGGGACGCAGCGTTCGGTGGA	0.667																																						uc003pgt.3																			0				skin(2)	2						c.(439-441)CGT>TGT		hypothetical protein LOC154288							30.0	37.0	34.0					6																	74073368		2202	4300	6502	SO:0001583	missense	154288							g.chr6:74073368C>T	AB211062	CCDS34484.1	6q13	2012-06-25	2012-06-25	2012-06-25	ENSG00000203908	ENSG00000203908			33699	protein-coding gene	gene with protein product	"""ES cell associated transcript 1"""	611687	"""chromosome 6 open reading frame 221"""	C6orf221		21885028	Standard	NM_001017361		Approved	ECAT1	uc003pgt.4	Q587J8	OTTHUMG00000015024	ENST00000370367.3:c.439C>T	6.37:g.74073368C>T	ENSP00000359392:p.Arg147Cys						p.R147C	NM_001017361	NP_001017361	Q587J8	ECAT1_HUMAN			3	492	+			147					B2RNW7	Missense_Mutation	SNP	ENST00000370367.3	37	c.439C>T	CCDS34484.1	.	.	.	.	.	.	.	.	.	.	C	15.54	2.865148	0.51482	.	.	ENSG00000203908	ENST00000370367	T	0.49720	0.77	2.8	-1.36	0.09085	.	1.817420	0.03245	N	0.180965	T	0.32675	0.0837	L	0.46157	1.445	0.09310	N	1	D	0.76494	0.999	P	0.57776	0.827	T	0.08534	-1.0717	10	0.46703	T	0.11	-0.7276	2.004	0.03473	0.1902:0.3116:0.3732:0.125	.	147	Q587J8	ECAT1_HUMAN	C	147	ENSP00000359392:R147C	ENSP00000359392:R147C	R	+	1	0	C6orf221	74130089	0.000000	0.05858	0.000000	0.03702	0.193000	0.23685	-2.465000	0.00995	-0.345000	0.08325	0.655000	0.94253	CGT		0.667	KHDC3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041202.3	NM_001017361	
HEY2	23493	broad.mit.edu	37	6	126080280	126080280	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr6:126080280G>A	ENST00000368364.3	+	5	543	c.346G>A	c.(346-348)Gct>Act	p.A116T	HEY2_ENST00000368365.1_Missense_Mutation_p.A70T	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	116	Transcriptional repression and interaction with NCOR1 and SIN3A. {ECO:0000250}.				anterior/posterior axis specification (GO:0009948)|arterial endothelial cell differentiation (GO:0060842)|ascending aorta morphogenesis (GO:0035910)|atrial septum morphogenesis (GO:0060413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate commitment (GO:0045165)|cochlea development (GO:0090102)|coronary vasculature morphogenesis (GO:0060977)|dorsal aorta morphogenesis (GO:0035912)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|mesenchymal cell development (GO:0014031)|muscular septum morphogenesis (GO:0003150)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cardiac vascular smooth muscle cell differentiation (GO:2000723)|negative regulation of gene expression (GO:0010629)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription by transcription factor localization (GO:0010621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000820)|negative regulation of transcription initiation from RNA polymerase II promoter (GO:0060633)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of heart rate (GO:0010460)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein-DNA complex assembly (GO:0065004)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of auditory receptor cell differentiation (GO:0045607)|regulation of vasculogenesis (GO:2001212)|smooth muscle cell differentiation (GO:0051145)|tricuspid valve formation (GO:0003195)|tricuspid valve morphogenesis (GO:0003186)|umbilical cord morphogenesis (GO:0036304)|vascular smooth muscle cell development (GO:0097084)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	histone deacetylase binding (GO:0042826)|microsatellite binding (GO:0035939)|protein binding transcription factor activity (GO:0000988)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		TGACGCACACGCTCTTGCCAT	0.522																																						uc003qad.2																			0				breast(1)	1						c.(346-348)GCT>ACT		hairy/enhancer-of-split related with YRPW motif							129.0	120.0	123.0					6																	126080280		2203	4300	6503	SO:0001583	missense	23493				negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding	g.chr6:126080280G>A	AJ249545	CCDS5131.1	6q	2013-10-17	2013-10-17		ENSG00000135547	ENSG00000135547		"""Basic helix-loop-helix proteins"""	4881	protein-coding gene	gene with protein product		604674	"""hairy/enhancer-of-split related with YRPW motif 2"""			10415358	Standard	NM_012259		Approved	bHLHb32, HERP1, HESR2	uc003qad.3	Q9UBP5	OTTHUMG00000015512	ENST00000368364.3:c.346G>A	6.37:g.126080280G>A	ENSP00000357348:p.Ala116Thr					HEY2_uc011ebr.1_Missense_Mutation_p.A70T	p.A116T	NM_012259	NP_036391	Q9UBP5	HEY2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)	5	537	+			116			Transcriptional repression and interaction with NCOR1 and SIN3A (By similarity).			Missense_Mutation	SNP	ENST00000368364.3	37	c.346G>A	CCDS5131.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.180442	0.57800	.	.	ENSG00000135547	ENST00000368365;ENST00000368364	T;T	0.42900	0.96;0.96	5.58	5.58	0.84498	.	0.154134	0.43260	D	0.000599	T	0.24198	0.0586	L	0.45744	1.44	0.42755	D	0.993782	B	0.15719	0.014	B	0.12156	0.007	T	0.03344	-1.1046	10	0.32370	T	0.25	-3.7294	15.2813	0.73787	0.0:0.0:0.8512:0.1488	.	116	Q9UBP5	HEY2_HUMAN	T	70;116	ENSP00000357349:A70T;ENSP00000357348:A116T	ENSP00000357348:A116T	A	+	1	0	HEY2	126121973	1.000000	0.71417	0.418000	0.26571	0.961000	0.63080	3.277000	0.51654	2.629000	0.89072	0.561000	0.74099	GCT		0.522	HEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042077.1		
CALCR	799	broad.mit.edu	37	7	93072970	93072970	+	Missense_Mutation	SNP	C	C	T	rs548671354		TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr7:93072970C>T	ENST00000394441.1	-	8	1063	c.748G>A	c.(748-750)Gtg>Atg	p.V250M	CALCR_ENST00000360249.4_Missense_Mutation_p.V266M|CALCR_ENST00000359558.2_Missense_Mutation_p.V284M|CALCR_ENST00000421592.1_Missense_Mutation_p.V266M|CALCR_ENST00000426151.1_Missense_Mutation_p.V250M	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	284					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	AACACAGCCACGACAATGAGT	0.448																																						uc003umv.1																			0				ovary(3)|lung(3)|skin(2)|pancreas(1)	9						c.(850-852)GTG>ATG		calcitonin receptor isoform 2 precursor	Salmon Calcitonin(DB00017)						145.0	135.0	138.0					7																	93072970		2203	4300	6503	SO:0001583	missense	799				activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding	g.chr7:93072970C>T	L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"""GPCR / Class B : Calcitonin receptors"""	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.748G>A	7.37:g.93072970C>T	ENSP00000377959:p.Val250Met					CALCR_uc011kia.1_Missense_Mutation_p.V64M|CALCR_uc003ums.1_RNA|CALCR_uc003umt.1_RNA|CALCR_uc003umu.1_Missense_Mutation_p.V250M|CALCR_uc003umw.2_Missense_Mutation_p.V250M	p.V284M	NM_001742	NP_001733	P30988	CALCR_HUMAN	STAD - Stomach adenocarcinoma(171;0.000244)		10	1111	-	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		266			Cytoplasmic (Potential).		A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Missense_Mutation	SNP	ENST00000394441.1	37	c.850G>A	CCDS5631.1	.	.	.	.	.	.	.	.	.	.	C	14.94	2.685517	0.47991	.	.	ENSG00000004948	ENST00000359558;ENST00000360249;ENST00000421592;ENST00000394441;ENST00000426151	T;T;T;T;T	0.37058	1.22;1.22;1.22;1.22;1.22	4.94	-0.207	0.13189	.	.	.	.	.	T	0.37972	0.1023	M	0.66439	2.03	0.35241	D	0.77781	P;P	0.51653	0.862;0.947	P;P	0.50192	0.574;0.634	T	0.49643	-0.8918	9	0.15499	T	0.54	.	7.7663	0.28982	0.1114:0.6289:0.0:0.2598	.	284;250	F5H605;A4D1G6	.;.	M	284;266;266;250;250	ENSP00000352561:V284M;ENSP00000353385:V266M;ENSP00000399552:V266M;ENSP00000377959:V250M;ENSP00000389295:V250M	ENSP00000352561:V284M	V	-	1	0	CALCR	92910906	1.000000	0.71417	0.030000	0.17652	0.000000	0.00434	3.219000	0.51200	-0.369000	0.08028	-2.049000	0.00408	GTG		0.448	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254661.2	NM_001742	
KDM7A	80853	broad.mit.edu	37	7	139833358	139833358	+	Missense_Mutation	SNP	G	G	A	rs550261955		TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr7:139833358G>A	ENST00000397560.2	-	3	476	c.379C>T	c.(379-381)Cgc>Tgc	p.R127C	JHDM1D_ENST00000006967.5_Missense_Mutation_p.R127C	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7A_HUMAN		127					histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|midbrain development (GO:0030901)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					ACTCGAGAGCGTAATTCCTTA	0.378																																						uc003vvm.2																			0				ovary(1)	1						c.(379-381)CGC>TGC		jumonji C domain containing histone demethylase							126.0	117.0	120.0					7																	139833358		1858	4099	5957	SO:0001583	missense	80853				midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr7:139833358G>A																												ENST00000397560.2:c.379C>T	7.37:g.139833358G>A	ENSP00000380692:p.Arg127Cys						p.R127C	NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN			3	383	-	Melanoma(164;0.0142)		127					A4D1S9|C9JJH9|C9JQU2|Q6MZL8|Q9C0E5	Missense_Mutation	SNP	ENST00000397560.2	37	c.379C>T	CCDS43658.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.956138	0.92726	.	.	ENSG00000006459	ENST00000397560;ENST00000006967	T;T	0.16073	2.6;2.37	5.31	5.31	0.75309	.	0.054650	0.85682	D	0.000000	T	0.29783	0.0744	L	0.52011	1.625	0.80722	D	1	D	0.76494	0.999	P	0.51742	0.678	T	0.01720	-1.1288	10	0.87932	D	0	-13.5001	19.3294	0.94280	0.0:0.0:1.0:0.0	.	127	Q6ZMT4	KDM7_HUMAN	C	127	ENSP00000380692:R127C;ENSP00000006967:R127C	ENSP00000006967:R127C	R	-	1	0	JHDM1D	139479827	1.000000	0.71417	0.914000	0.36105	0.959000	0.62525	9.789000	0.99068	2.625000	0.88918	0.650000	0.86243	CGC		0.378	JHDM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348460.1		
EPHB6	2051	broad.mit.edu	37	7	142568575	142568575	+	Missense_Mutation	SNP	T	T	A			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr7:142568575T>A	ENST00000392957.2	+	20	3771	c.2984T>A	c.(2983-2985)cTg>cAg	p.L995Q	EPHB6_ENST00000442129.1_Missense_Mutation_p.L995Q|EPHB6_ENST00000476059.1_3'UTR|EPHB6_ENST00000411471.2_Missense_Mutation_p.L718Q	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	995	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GGCATCACCCTGGCTGGCCAC	0.617																																						uc011kst.1																			0				lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1)	19						c.(2983-2985)CTG>CAG		ephrin receptor EphB6 precursor							63.0	59.0	60.0					7																	142568575		2203	4300	6503	SO:0001583	missense	2051					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:142568575T>A	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3396	protein-coding gene	gene with protein product		602757	"""EphB6"""				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.2984T>A	7.37:g.142568575T>A	ENSP00000376684:p.Leu995Gln					EPHB6_uc011ksu.1_Missense_Mutation_p.L995Q|EPHB6_uc003wbs.2_Missense_Mutation_p.L703Q|EPHB6_uc003wbt.2_Missense_Mutation_p.L469Q|EPHB6_uc003wbu.2_Missense_Mutation_p.L703Q|EPHB6_uc003wbv.2_Missense_Mutation_p.L379Q	p.L995Q	NM_004445	NP_004436	O15197	EPHB6_HUMAN			20	3771	+	Melanoma(164;0.059)		995			SAM.|Cytoplasmic (Potential).		A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Missense_Mutation	SNP	ENST00000392957.2	37	c.2984T>A	CCDS5873.2	.	.	.	.	.	.	.	.	.	.	T	23.6	4.430379	0.83776	.	.	ENSG00000106123	ENST00000392957;ENST00000442129;ENST00000411471	D;D;D	0.85088	-1.94;-1.94;-1.94	5.1	5.1	0.69264	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.000000	0.36101	N	0.002786	D	0.92080	0.7490	M	0.80982	2.52	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.92812	0.6265	10	0.59425	D	0.04	.	14.061	0.64800	0.0:0.0:0.0:1.0	.	995;718	O15197;O15197-2	EPHB6_HUMAN;.	Q	995;995;718	ENSP00000376684:L995Q;ENSP00000410789:L995Q;ENSP00000409061:L718Q	ENSP00000376684:L995Q	L	+	2	0	EPHB6	142278697	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.645000	0.83430	1.912000	0.55364	0.533000	0.62120	CTG		0.617	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1		
KEL	3792	broad.mit.edu	37	7	142638355	142638355	+	Missense_Mutation	SNP	C	C	T	rs201835469		TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr7:142638355C>T	ENST00000355265.2	-	19	2657	c.2183G>A	c.(2182-2184)cGc>cAc	p.R728H		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	728					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GAGCTGGCAGCGGCTGGAGGG	0.567													C|||	1	0.000199681	0.0	0.0	5008	,	,		17761	0.001		0.0	False		,,,				2504	0.0					uc003wcb.2																			0				ovary(3)|central_nervous_system(1)	4						c.(2182-2184)CGC>CAC		Kell blood group, metallo-endopeptidase							77.0	80.0	79.0					7																	142638355		2203	4300	6503	SO:0001583	missense	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142638355C>T	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"""CD molecules"", ""Blood group antigens"""	6308	protein-coding gene	gene with protein product		613883	"""Kell blood group"", ""Kell blood group, metalloendopeptidase"""			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.2183G>A	7.37:g.142638355C>T	ENSP00000347409:p.Arg728His						p.R728H	NM_000420	NP_000411	P23276	KELL_HUMAN			19	2393	-	Melanoma(164;0.059)		728			Extracellular (Potential).		B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	ENST00000355265.2	37	c.2183G>A	CCDS34766.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	c	9.209	1.030374	0.19512	.	.	ENSG00000197993	ENST00000355265	D	0.85484	-1.99	4.77	-2.71	0.05986	Peptidase M13, neprilysin, C-terminal (1);	0.513540	0.17222	N	0.182300	T	0.80319	0.4601	M	0.70595	2.14	0.24148	N	0.99571	B	0.30236	0.274	B	0.26094	0.066	T	0.70278	-0.4916	10	0.56958	D	0.05	-22.5515	10.261	0.43427	0.0:0.3968:0.0:0.6032	.	728	P23276	KELL_HUMAN	H	728	ENSP00000347409:R728H	ENSP00000347409:R728H	R	-	2	0	KEL	142348477	0.184000	0.23200	0.358000	0.25811	0.257000	0.26127	-1.077000	0.03416	-0.510000	0.06523	-0.142000	0.14014	CGC		0.567	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420	
XKR6	286046	broad.mit.edu	37	8	11058779	11058779	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr8:11058779C>T	ENST00000416569.2	-	1	96	c.70G>A	c.(70-72)Gtg>Atg	p.V24M	XKR6_ENST00000297303.4_Missense_Mutation_p.V24M|AF131215.8_ENST00000602443.1_lincRNA	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	24	Gly-rich.					integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		CCGCTGCCCACCGCCTCGTCC	0.726																																						uc003wtk.1																			0				ovary(1)|skin(1)	2						c.(70-72)GTG>ATG		XK, Kell blood group complex subunit-related							7.0	7.0	7.0					8																	11058779		1697	3395	5092	SO:0001583	missense	286046					integral to membrane		g.chr8:11058779C>T	BC024146	CCDS5978.2	8p23.1	2009-05-27	2006-01-12	2005-07-28	ENSG00000171044	ENSG00000171044			27806	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 7"", ""chromosome 8 open reading frame 21"", ""X Kell blood group precursor-related family, member 6"", ""chromosome 8 open reading frame 5"""	C8orf7, C8orf21, C8orf5			Standard	NM_173683		Approved		uc003wtk.1	Q5GH73	OTTHUMG00000129351	ENST00000416569.2:c.70G>A	8.37:g.11058779C>T	ENSP00000416707:p.Val24Met						p.V24M	NM_173683	NP_775954	Q5GH73	XKR6_HUMAN		Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)	1	97	-			24			Gly-rich.		Q8TBA0	Missense_Mutation	SNP	ENST00000416569.2	37	c.70G>A	CCDS5978.2	.	.	.	.	.	.	.	.	.	.	c	17.83	3.486208	0.63962	.	.	ENSG00000171044	ENST00000416569;ENST00000297303	D	0.88741	-2.42	3.7	2.81	0.32909	.	0.475226	0.16005	U	0.234136	T	0.76744	0.4030	N	0.08118	0	0.80722	D	1	B	0.15930	0.015	B	0.09377	0.004	T	0.69917	-0.5015	10	0.87932	D	0	.	8.9989	0.36069	0.0:0.8842:0.0:0.1158	.	24	Q5GH73	XKR6_HUMAN	M	24	ENSP00000416707:V24M	ENSP00000297303:V24M	V	-	1	0	XKR6	11096189	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.785000	0.55424	0.654000	0.30846	0.450000	0.29827	GTG		0.726	XKR6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383958.1	NM_173683	
TMEM215	401498	broad.mit.edu	37	9	32784817	32784817	+	Silent	SNP	C	C	T			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr9:32784817C>T	ENST00000342743.5	+	2	1001	c.636C>T	c.(634-636)aaC>aaT	p.N212N		NM_212558.2	NP_997723.2	Q68D42	TM215_HUMAN	transmembrane protein 215	212						integral component of membrane (GO:0016021)				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						ACAAGCAGAACAGCCCGTATG	0.493																																						uc003zri.3																			0					0						c.(634-636)AAC>AAT		transmembrane protein 215							80.0	69.0	73.0					9																	32784817		2202	4295	6497	SO:0001819	synonymous_variant	401498					integral to membrane		g.chr9:32784817C>T		CCDS6530.1	9p21.1	2008-08-08			ENSG00000188133	ENSG00000188133			33816	protein-coding gene	gene with protein product							Standard	NM_212558		Approved		uc003zri.4	Q68D42	OTTHUMG00000129521	ENST00000342743.5:c.636C>T	9.37:g.32784817C>T							p.N212N	NM_212558	NP_997723	Q68D42	TM215_HUMAN			2	1001	+			212					Q6ZUU2	Silent	SNP	ENST00000342743.5	37	c.636C>T	CCDS6530.1																																																																																				0.493	TMEM215-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251701.1	NM_212558	
CCIN	881	broad.mit.edu	37	9	36170861	36170861	+	Silent	SNP	C	C	T	rs562247970	byFrequency	TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr9:36170861C>T	ENST00000335119.2	+	1	1473	c.1362C>T	c.(1360-1362)gaC>gaT	p.D454D		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	454					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			GCACTGGGGACGTGGTCCAGT	0.557													C|||	2	0.000399361	0.0	0.0	5008	,	,		21839	0.0		0.0	False		,,,				2504	0.002					uc003zzb.3																			0				ovary(1)|skin(1)	2						c.(1360-1362)GAC>GAT		calicin							131.0	112.0	118.0					9																	36170861		2203	4300	6503	SO:0001819	synonymous_variant	881				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	g.chr9:36170861C>T	Z46967	CCDS6599.1	9p13.1	2013-10-02			ENSG00000185972	ENSG00000185972		"""BTB/POZ domain containing"""	1568	protein-coding gene	gene with protein product		603960				7641791	Standard	NM_005893		Approved	KBTBD14, BTBD20	uc003zzb.4	Q13939	OTTHUMG00000019901	ENST00000335119.2:c.1362C>T	9.37:g.36170861C>T							p.D454D	NM_005893	NP_005884	Q13939	CALI_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		1	1473	+			454			Kelch 4.		Q9BXG7	Silent	SNP	ENST00000335119.2	37	c.1362C>T	CCDS6599.1																																																																																				0.557	CCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052418.1	NM_005893	
FOXB2	442425	broad.mit.edu	37	9	79634932	79634932	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr9:79634932C>T	ENST00000376708.1	+	1	362	c.362C>T	c.(361-363)gCg>gTg	p.A121V		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	121					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|lung(8)|ovary(1)	10						CACTTGCACGCGGGAAGCACC	0.687																																						uc004ako.1																			0					0						c.(361-363)GCG>GTG		forkhead box B2							15.0	19.0	17.0					9																	79634932		2201	4294	6495	SO:0001583	missense	442425				brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr9:79634932C>T		CCDS35045.1	9q21.2	2008-02-05			ENSG00000204612	ENSG00000204612		"""Forkhead boxes"""	23315	protein-coding gene	gene with protein product							Standard	NM_001013735		Approved	bA159H20.4	uc004ako.1	Q5VYV0	OTTHUMG00000020051	ENST00000376708.1:c.362C>T	9.37:g.79634932C>T	ENSP00000365898:p.Ala121Val						p.A121V	NM_001013735	NP_001013757	Q5VYV0	FOXB2_HUMAN			1	362	+			121						Missense_Mutation	SNP	ENST00000376708.1	37	c.362C>T	CCDS35045.1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.047078	0.55110	.	.	ENSG00000204612	ENST00000376708	D	0.96774	-4.12	4.29	4.29	0.51040	.	13.518200	0.00918	N	0.002546	D	0.91348	0.7271	N	0.08118	0	0.27398	N	0.954925	B	0.31519	0.327	B	0.24155	0.051	T	0.83115	-0.0121	10	0.33141	T	0.24	.	12.2459	0.54571	0.0:1.0:0.0:0.0	.	121	Q5VYV0	FOXB2_HUMAN	V	121	ENSP00000365898:A121V	ENSP00000365898:A121V	A	+	2	0	FOXB2	78824752	0.014000	0.17966	0.864000	0.33941	0.935000	0.57460	2.094000	0.41719	1.923000	0.55706	0.462000	0.41574	GCG		0.687	FOXB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052745.1	NM_001013735	
ZNF618	114991	broad.mit.edu	37	9	116731434	116731434	+	Missense_Mutation	SNP	C	C	T	rs143368881		TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr9:116731434C>T	ENST00000374126.5	+	2	170	c.71C>T	c.(70-72)gCg>gTg	p.A24V	ZNF618_ENST00000288466.7_Missense_Mutation_p.A24V			Q5T7W0	ZN618_HUMAN	zinc finger protein 618	24					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						AAAAGCACTGCGAGCAGGTAC	0.557													C|||	1	0.000199681	0.0	0.0	5008	,	,		19450	0.0		0.001	False		,,,				2504	0.0					uc004bid.2																			0					0						c.(70-72)GCG>GTG		zinc finger protein 618		C	VAL/ALA	0,4084		0,0,2042	144.0	162.0	156.0		71	3.2	0.1	9	dbSNP_134	156	1,8381		0,1,4190	no	missense	ZNF618	NM_133374.2	64	0,1,6232	TT,TC,CC		0.0119,0.0,0.0080	benign	24/862	116731434	1,12465	2042	4191	6233	SO:0001583	missense	114991				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:116731434C>T	BC012922	CCDS48008.1	9q33.1	2010-04-21			ENSG00000157657	ENSG00000157657		"""Zinc fingers, C2H2-type"""	29416	protein-coding gene	gene with protein product	"""neural precursor cell expressed, developmentally down-regulated 10"""					11853319	Standard	NM_133374		Approved	KIAA1952, NEDD10	uc004bic.3	Q5T7W0	OTTHUMG00000020532	ENST00000374126.5:c.71C>T	9.37:g.116731434C>T	ENSP00000363241:p.Ala24Val					ZNF618_uc004bib.1_Missense_Mutation_p.A24V|ZNF618_uc004bic.2_Missense_Mutation_p.A24V|ZNF618_uc011lxi.1_Missense_Mutation_p.A24V|ZNF618_uc011lxj.1_Missense_Mutation_p.A24V	p.A24V	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN			2	170	+			24					B9EG82|Q4G0X6|Q5T7W1|Q6ZT53|Q7Z6B9|Q8TF49|Q96E49	Missense_Mutation	SNP	ENST00000374126.5	37	c.71C>T		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	8.297	0.819063	0.16607	0.0	1.19E-4	ENSG00000157657	ENST00000374126;ENST00000288466;ENST00000452710;ENST00000374124	T;T;T	0.16597	4.51;2.81;2.33	5.05	3.16	0.36331	.	0.644179	0.13650	N	0.372333	T	0.08133	0.0203	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.14012	0.001;0.001;0.009;0.0;0.003	B;B;B;B;B	0.08055	0.0;0.0;0.003;0.0;0.002	T	0.32188	-0.9916	10	0.25751	T	0.34	-5.2878	7.7808	0.29064	0.0:0.8007:0.0:0.1993	.	24;24;24;24;24	B5MDS3;B9EG82;Q5T7W0;Q5T7W0-2;Q5T7W0-3	.;.;ZN618_HUMAN;.;.	V	24	ENSP00000288466:A24V;ENSP00000395400:A24V;ENSP00000363239:A24V	ENSP00000288466:A24V	A	+	2	0	ZNF618	115771255	0.000000	0.05858	0.068000	0.19968	0.442000	0.32017	0.497000	0.22514	1.234000	0.43709	0.591000	0.81541	GCG		0.557	ZNF618-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000053749.1	XM_054983	
DBH	1621	broad.mit.edu	37	9	136517375	136517375	+	Missense_Mutation	SNP	G	G	A	rs372946596		TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr9:136517375G>A	ENST00000393056.2	+	8	1355	c.1343G>A	c.(1342-1344)cGc>cAc	p.R448H	DBH-AS1_ENST00000425189.1_RNA	NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	448					behavioral response to ethanol (GO:0048149)|blood vessel remodeling (GO:0001974)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine production (GO:0001816)|dopamine catabolic process (GO:0042420)|fear response (GO:0042596)|glucose homeostasis (GO:0042593)|homoiothermy (GO:0042309)|leukocyte mediated immunity (GO:0002443)|leukocyte migration (GO:0050900)|locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|memory (GO:0007613)|norepinephrine biosynthetic process (GO:0042421)|positive regulation of vasoconstriction (GO:0045907)|regulation of cell proliferation (GO:0042127)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|response to amphetamine (GO:0001975)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	catalytic activity (GO:0003824)|copper ion binding (GO:0005507)|dopamine beta-monooxygenase activity (GO:0004500)|L-ascorbic acid binding (GO:0031418)			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Disulfiram(DB00822)|Dopamine(DB00988)|Propylthiouracil(DB00550)|Vitamin C(DB00126)	CAGGAGATCCGCATGTTGAAG	0.672																																						uc004cel.2																			0				ovary(2)|central_nervous_system(2)	4						c.(1342-1344)CGC>CAC		dopamine beta hydroxylase precursor	Dopamine(DB00988)|Vitamin C(DB00126)	G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	103.0	87.0	92.0		1343	5.0	1.0	9		92	1,8599	1.2+/-3.3	0,1,4299	no	missense	DBH	NM_000787.3	29	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	448/618	136517375	2,13004	2203	4300	6503	SO:0001583	missense	1621				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding	g.chr9:136517375G>A	X13256	CCDS6977.2	9q34	2013-06-03			ENSG00000123454	ENSG00000123454	1.14.17.1		2689	protein-coding gene	gene with protein product		609312					Standard	NM_000787		Approved	DBM	uc004cel.3	P09172	OTTHUMG00000020878	ENST00000393056.2:c.1343G>A	9.37:g.136517375G>A	ENSP00000376776:p.Arg448His						p.R448H	NM_000787	NP_000778	P09172	DOPO_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	8	1352	+			448			Intragranular (Potential).		Q5T381|Q96AG2	Missense_Mutation	SNP	ENST00000393056.2	37	c.1343G>A	CCDS6977.2	.	.	.	.	.	.	.	.	.	.	G	26.5	4.740805	0.89573	2.27E-4	1.16E-4	ENSG00000123454	ENST00000393056	T	0.78246	-1.16	4.98	4.98	0.66077	PHM/PNGase F domain (1);Copper type II, ascorbate-dependent monooxygenase-like, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.87842	0.6279	M	0.74546	2.27	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	D	0.88622	0.3163	10	0.56958	D	0.05	-37.5737	18.6096	0.91279	0.0:0.0:1.0:0.0	.	448	P09172	DOPO_HUMAN	H	448	ENSP00000376776:R448H	ENSP00000376776:R448H	R	+	2	0	DBH	135507196	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	6.163000	0.71880	2.454000	0.82982	0.655000	0.94253	CGC		0.672	DBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054929.2	NM_000787	
SLC34A3	142680	broad.mit.edu	37	9	140127306	140127306	+	Silent	SNP	C	C	T	rs142873841	byFrequency	TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr9:140127306C>T	ENST00000538474.1	+	5	599	c.375C>T	c.(373-375)ggC>ggT	p.G125G	SLC34A3_ENST00000361134.2_Silent_p.G125G	NM_001177316.1|NM_001177317.1	NP_001170787|NP_001170788	Q8N130	NPT2C_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 3	125					cellular phosphate ion homeostasis (GO:0030643)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		TGGTCATTGGCGTGCTGGTCA	0.617													c|||	5	0.000998403	0.003	0.0014	5008	,	,		14256	0.0		0.0	False		,,,				2504	0.0					uc004cmf.1																			0					0						c.(373-375)GGC>GGT		solute carrier family 34 (sodium phosphate),			,,	14,4386	21.2+/-45.6	0,14,2186	86.0	63.0	70.0		375,375,375	-7.3	0.4	9	dbSNP_134	70	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	SLC34A3	NM_001177316.1,NM_001177317.1,NM_080877.2	,,	0,14,6485	TT,TC,CC		0.0,0.3182,0.1077	,,	125/600,125/600,125/600	140127306	14,12984	2200	4299	6499	SO:0001819	synonymous_variant	142680				cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr9:140127306C>T	AB055000	CCDS7038.1	9q34.3	2013-07-17	2013-07-17		ENSG00000198569	ENSG00000198569		"""Solute carriers"""	20305	protein-coding gene	gene with protein product		609826	"""solute carrier family 34 (sodium phosphate), member 3"""			11880379, 16358215, 16358214	Standard	NM_080877		Approved	NPTIIc, FLJ38680	uc004cmf.1	Q8N130	OTTHUMG00000131780	ENST00000538474.1:c.375C>T	9.37:g.140127306C>T						SLC34A3_uc004cmc.1_5'UTR|SLC34A3_uc004cmd.1_Silent_p.G125G|SLC34A3_uc011met.1_Silent_p.G125G	p.G125G	NM_080877	NP_543153	Q8N130	NPT2C_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)	5	561	+	all_cancers(76;0.0926)		125			Helical; Name=M2; (Potential).		A2BFA1	Silent	SNP	ENST00000538474.1	37	c.375C>T	CCDS7038.1																																																																																				0.617	SLC34A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254712.1	NM_080877	
F9	2158	broad.mit.edu	37	X	138643736	138643736	+	Nonsense_Mutation	SNP	C	C	T	rs137852250		TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chrX:138643736C>T	ENST00000218099.2	+	8	899	c.892C>T	c.(892-894)Cga>Tga	p.R298*	F9_ENST00000394090.2_Nonsense_Mutation_p.R260*	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	298	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Menadione(DB00170)	AAATGTGATTCGAATTATTCC	0.353																																						uc004fas.1																			0				lung(2)|ovary(1)	3	GRCh37	CM940596	F9	M	rs137852250	c.(892-894)CGA>TGA		coagulation factor IX preproprotein	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)						164.0	141.0	148.0					X																	138643736		2203	4300	6503	SO:0001587	stop_gained	2158				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity	g.chrX:138643736C>T	M11309	CCDS14666.1	Xq26.3-q27.1	2014-09-17	2008-08-01		ENSG00000101981	ENSG00000101981	3.4.21.22		3551	protein-coding gene	gene with protein product	"""Factor IX"", ""plasma thromboplastic component"", ""Christmas disease"", ""hemophilia B"""	300746					Standard	NM_000133		Approved	FIX	uc004fas.1	P00740	OTTHUMG00000022536	ENST00000218099.2:c.892C>T	X.37:g.138643736C>T	ENSP00000218099:p.Arg298*					F9_uc004fat.1_Nonsense_Mutation_p.R260*	p.R298*	NM_000133	NP_000124	P00740	FA9_HUMAN			8	921	+	Acute lymphoblastic leukemia(192;0.000127)		298			Peptidase S1.		A8K9N4|F2RM36|Q5FBE1|Q5JYJ8	Nonsense_Mutation	SNP	ENST00000218099.2	37	c.892C>T	CCDS14666.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.993725	0.74703	.	.	ENSG00000101981	ENST00000218099;ENST00000394090	.	.	.	5.42	5.42	0.78866	.	0.387908	0.28712	N	0.014391	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	.	10.9683	0.47424	0.3081:0.6919:0.0:0.0	.	.	.	.	X	298;260	.	ENSP00000218099:R298X	R	+	1	2	F9	138471402	0.260000	0.24053	0.725000	0.30721	0.969000	0.65631	3.874000	0.56101	2.250000	0.74265	0.544000	0.68410	CGA		0.353	F9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058557.1		
