#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_ACHILLES_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
CPSF3L	54973	broad.mit.edu	37	1	1250237	1250237	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:1250237C>G	ENST00000435064.1	-	7	751	c.669G>C	c.(667-669)aaG>aaC	p.K223N	CPSF3L_ENST00000411962.1_Missense_Mutation_p.K125N|RP5-890O3.9_ENST00000444968.1_RNA|CPSF3L_ENST00000450926.2_Missense_Mutation_p.K201N|CPSF3L_ENST00000462432.1_5'UTR|CPSF3L_ENST00000545578.1_Missense_Mutation_p.K194N|CPSF3L_ENST00000419704.1_Missense_Mutation_p.K122N|CPSF3L_ENST00000540437.1_Missense_Mutation_p.K229N|CPSF3L_ENST00000421495.2_5'UTR	NM_001256460.1|NM_017871.5	NP_001243389.1|NP_060341.2	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor 3-like	223					snRNA processing (GO:0016180)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|integrator complex (GO:0032039)	hydrolase activity (GO:0016787)	p.K223N(1)		endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		CGTGGACTTTCTTCAGGAAGT	0.632																																							uc001aee.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(667-669)AAG>AAC		cleavage and polyadenylation specific factor							77.0	66.0	70.0					1																	1250237		2202	4299	6501	SO:0001583	missense	54973					Golgi apparatus|nucleus	hydrolase activity	g.chr1:1250237C>G	AL136813	CCDS21.1, CCDS57959.1, CCDS57960.1, CCDS57961.1, CCDS72678.1	1p36.33	2008-02-05			ENSG00000127054	ENSG00000127054			26052	protein-coding gene	gene with protein product	"""integrator complex subunit 11"""	611354				15684398, 16239144	Standard	NM_001256456		Approved	FLJ20542, RC-68, CPSF73L, INT11, INTS11	uc001aee.2	Q5TA45	OTTHUMG00000003330	ENST00000435064.1:c.669G>C	1.37:g.1250237C>G	ENSP00000413493:p.Lys223Asn					CPSF3L_uc009vjy.1_RNA|CPSF3L_uc001aef.1_Missense_Mutation_p.K229N|CPSF3L_uc009vjz.1_Missense_Mutation_p.K201N|CPSF3L_uc010nyj.1_Missense_Mutation_p.K194N|CPSF3L_uc001aeg.1_Missense_Mutation_p.K99N|CPSF3L_uc001aeh.1_Missense_Mutation_p.K122N|CPSF3L_uc001aei.1_Missense_Mutation_p.K125N|CPSF3L_uc001aej.1_Missense_Mutation_p.K50N|CPSF3L_uc001aek.1_5'UTR	p.K223N	NM_017871	NP_060341	Q5TA45	INT11_HUMAN		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)	7	727	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	223					A8K5S2|B3KPR3|B4DM87|G3V1S5|Q5TA46|Q5TA48|Q5TA52|Q5TA53|Q5TA54|Q7L3D7|Q96HY1|Q9BW36|Q9H0F9|Q9H8R5|Q9HAA6|Q9NWX9	Missense_Mutation	SNP	ENST00000435064.1	37	c.669G>C	CCDS21.1	.	.	.	.	.	.	.	.	.	.	c	17.28	3.349227	0.61183	.	.	ENSG00000127054	ENST00000435064;ENST00000411962;ENST00000419704;ENST00000540437;ENST00000450926;ENST00000545578;ENST00000434694;ENST00000526332	T;T;T;T;T;T;T	0.47869	0.95;0.95;0.95;0.95;0.83;0.95;0.9	5.53	3.67	0.42095	Beta-lactamase-like (1);	0.000000	0.85682	D	0.000000	T	0.43875	0.1267	L	0.51914	1.62	0.80722	D	1	B;B;P;P;B;B	0.41524	0.268;0.165;0.638;0.753;0.138;0.314	B;B;B;B;B;B	0.42245	0.26;0.115;0.212;0.381;0.23;0.378	T	0.23547	-1.0185	10	0.35671	T	0.21	-46.5746	11.6403	0.51228	0.0:0.8571:0.0:0.1429	.	201;194;125;122;229;223	Q5TA45-3;B4DM87;C9IYS7;Q5TA45-2;G3V1S5;Q5TA45	.;.;.;.;.;INT11_HUMAN	N	223;125;122;229;201;194;253;99	ENSP00000413493:K223N;ENSP00000404886:K122N;ENSP00000445001:K229N;ENSP00000392848:K201N;ENSP00000444672:K194N;ENSP00000411233:K253N;ENSP00000434790:K99N	ENSP00000400548:K125N	K	-	3	2	CPSF3L	1240100	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	3.019000	0.49635	0.711000	0.32018	0.651000	0.88453	AAG		0.632	CPSF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009360.2	NM_017871		17	92	0	0	0	0.00499	0	17	92				
RPL22	6146	broad.mit.edu	37	1	6253091	6253091	+	Missense_Mutation	SNP	G	G	C	rs374367647		TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:6253091G>C	ENST00000234875.4	-	3	179	c.141C>G	c.(139-141)atC>atG	p.I47M	RPL22_ENST00000484532.1_Missense_Mutation_p.I14M|RPL22_ENST00000497965.1_Missense_Mutation_p.I14M	NM_000983.3	NP_000974.1	P35268	RL22_HUMAN	ribosomal protein L22	47					alpha-beta T cell differentiation (GO:0046632)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	heparin binding (GO:0008201)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.I47M(2)		kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	Ovarian(185;0.0634)	all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		CGTTCACTTTGATCCTTTCTT	0.438			T	RUNX1	"""AML, CML"""																																		uc001amd.2		NA		Dom	yes		1	1p36.31	6146	T	ribosomal protein L22 (EAP)			L	RUNX1		AML|CML		2	Substitution - Missense(2)		lung(2)		0						c.(139-141)ATC>ATG		ribosomal protein L22 proprotein							99.0	103.0	101.0					1																	6253091		2203	4300	6503	SO:0001583	missense	6146				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	heparin binding|RNA binding|structural constituent of ribosome	g.chr1:6253091G>C	BC058887	CCDS58.1	1p36.31	2011-04-06			ENSG00000116251	ENSG00000116251		"""L ribosomal proteins"""	10315	protein-coding gene	gene with protein product		180474				8395054	Standard	NM_000983		Approved	EAP, L22	uc001amd.3	P35268	OTTHUMG00000000953	ENST00000234875.4:c.141C>G	1.37:g.6253091G>C	ENSP00000346088:p.Ile47Met					RPL22_uc001ame.2_Missense_Mutation_p.I47M	p.I47M	NM_000983	NP_000974	P35268	RL22_HUMAN		Epithelial(90;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)	3	187	-	Ovarian(185;0.0634)	all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)	47					B2R495|Q6IBD1	Missense_Mutation	SNP	ENST00000234875.4	37	c.141C>G	CCDS58.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.336777	0.81801	.	.	ENSG00000116251	ENST00000234875	T	0.53206	0.63	4.95	4.03	0.46877	.	0.049359	0.85682	D	0.000000	T	0.73768	0.3629	M	0.92026	3.265	0.58432	D	0.999999	D;D	0.69078	0.986;0.997	D;D	0.83275	0.971;0.996	T	0.80204	-0.1479	10	0.66056	D	0.02	-26.9004	13.7267	0.62763	0.0752:0.0:0.9248:0.0	.	47;47	Q7Z4W8;P35268	.;RL22_HUMAN	M	47	ENSP00000346088:I47M	ENSP00000346088:I47M	I	-	3	3	RPL22	6175678	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.776000	0.62354	1.212000	0.43366	0.591000	0.81541	ATC		0.438	RPL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002830.1	NM_000983		11	146	0	0	0	0.001368	0	11	146				
PEX14	5195	broad.mit.edu	37	1	10555367	10555367	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:10555367C>G	ENST00000356607.4	+	2	153	c.73C>G	c.(73-75)Cga>Gga	p.R25G	PEX14_ENST00000538836.1_5'UTR	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14	25					microtubule anchoring (GO:0034453)|negative regulation of protein binding (GO:0032091)|negative regulation of protein homotetramerization (GO:1901094)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peroxisome organization (GO:0007031)|peroxisome transport along microtubule (GO:0036250)|protein complex assembly (GO:0006461)|protein homooligomerization (GO:0051260)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, substrate release (GO:0044721)|protein import into peroxisome matrix, translocation (GO:0016561)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)	p.R25G(2)		breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		TGTGCTGCCTCGAGAGCCGCT	0.433											OREG0013090	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001arn.2		NA																	2	Substitution - Missense(2)		lung(2)	breast(1)	1						c.(73-75)CGA>GGA		peroxisomal biogenesis factor 14							127.0	119.0	122.0					1																	10555367		2203	4300	6503	SO:0001583	missense	5195				negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport	integral to membrane|nucleus|peroxisomal membrane|protein complex	protein N-terminus binding|transcription corepressor activity	g.chr1:10555367C>G	AF045186	CCDS30582.1	1p36.22	2008-05-14			ENSG00000142655	ENSG00000142655			8856	protein-coding gene	gene with protein product		601791				9653144	Standard	NM_004565		Approved		uc001arn.3	O75381	OTTHUMG00000001908	ENST00000356607.4:c.73C>G	1.37:g.10555367C>G	ENSP00000349016:p.Arg25Gly		OREG0013090	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	665	PEX14_uc001arm.1_RNA|PEX14_uc009vmu.1_Missense_Mutation_p.R25G|PEX14_uc009vmv.2_Intron|PEX14_uc010oam.1_5'UTR|PEX14_uc010oan.1_Missense_Mutation_p.R25G|PEX14_uc001arl.2_RNA	p.R25G	NM_004565	NP_004556	O75381	PEX14_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)	2	94	+	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)	25					B2R7N1|B3KML6|B7Z1N2|Q8WX51	Missense_Mutation	SNP	ENST00000356607.4	37	c.73C>G	CCDS30582.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.158958	0.78226	.	.	ENSG00000142655	ENST00000356607	T	0.65732	-0.17	5.19	5.19	0.71726	Peroxisome membrane anchor protein Pex14p, N-terminal (1);	0.000000	0.64402	D	0.000020	T	0.82061	0.4955	M	0.89095	3.005	0.80722	D	1	D;D	0.69078	0.996;0.997	D;D	0.81914	0.992;0.995	D	0.85623	0.1265	10	0.72032	D	0.01	.	15.8798	0.79195	0.0:1.0:0.0:0.0	.	25;25	O75381-2;O75381	.;PEX14_HUMAN	G	25	ENSP00000349016:R25G	ENSP00000349016:R25G	R	+	1	2	PEX14	10477954	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	2.850000	0.48294	2.413000	0.81919	0.655000	0.94253	CGA		0.433	PEX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005414.1			8	54	0	0	0	0.00308	0	8	54				
NPPA	4878	broad.mit.edu	37	1	11907671	11907671	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:11907671C>G	ENST00000376480.3	-	1	169	c.71G>C	c.(70-72)aGa>aCa	p.R24T	NPPA-AS1_ENST00000446542.1_RNA|NPPA_ENST00000376476.1_Intron|NPPA-AS1_ENST00000400892.2_RNA	NM_006172.3	NP_006163.1	P01160	ANF_HUMAN	natriuretic peptide A	24					cardiac muscle hypertrophy in response to stress (GO:0014898)|cellular response to mechanical stimulus (GO:0071260)|cGMP biosynthetic process (GO:0006182)|female pregnancy (GO:0007565)|gene expression (GO:0010467)|negative regulation of cell growth (GO:0030308)|negative regulation of systemic arterial blood pressure (GO:0003085)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|transcription initiation from RNA polymerase II promoter (GO:0006367)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mast cell granule (GO:0042629)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	receptor binding (GO:0005102)	p.R24T(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGGATTAGCTCTGGTCTGACC	0.562																																							uc001ati.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(70-72)AGA>ACA		natriuretic peptide precursor A preproprotein							228.0	200.0	209.0					1																	11907671		2203	4300	6503	SO:0001583	missense	4878				cGMP biosynthetic process|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size	extracellular region	hormone activity	g.chr1:11907671C>G	BC005893	CCDS139.1	1p36.21	2014-09-17	2010-11-09		ENSG00000175206	ENSG00000175206		"""Endogenous ligands"""	7939	protein-coding gene	gene with protein product		108780	"""natriuretic peptide precursor A"""	ANP, PND			Standard	NM_006172		Approved		uc001ati.3	P01160	OTTHUMG00000002388	ENST00000376480.3:c.71G>C	1.37:g.11907671C>G	ENSP00000365663:p.Arg24Thr					CLCN6_uc010oav.1_RNA|CLCN6_uc010oaw.1_RNA|CLCN6_uc010oax.1_RNA|CLCN6_uc010oay.1_RNA|CLCN6_uc010oaz.1_RNA|CLCN6_uc010oba.1_RNA	p.R24T	NM_006172	NP_006163	P01160	ANF_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	1	170	-	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)	24					Q13766|Q5JZE1	Missense_Mutation	SNP	ENST00000376480.3	37	c.71G>C	CCDS139.1	.	.	.	.	.	.	.	.	.	.	C	4.218	0.039358	0.08148	.	.	ENSG00000175206	ENST00000376480	T	0.47177	0.85	5.57	2.28	0.28536	.	1.274260	0.05235	N	0.511096	T	0.37919	0.1021	L	0.43152	1.355	0.09310	N	1	B	0.26672	0.156	B	0.23852	0.049	T	0.35992	-0.9766	10	0.48119	T	0.1	1.2462	2.7541	0.05288	0.1929:0.5192:0.1858:0.1022	.	24	P01160	ANF_HUMAN	T	24	ENSP00000365663:R24T	ENSP00000365663:R24T	R	-	2	0	NPPA	11830258	0.000000	0.05858	0.017000	0.16124	0.114000	0.19823	-0.055000	0.11807	1.329000	0.45376	0.491000	0.48974	AGA		0.562	NPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006852.1	NM_006172		28	273	0	0	0	0.00632	0	28	273				
RPL11	6135	broad.mit.edu	37	1	24021184	24021184	+	Missense_Mutation	SNP	C	C	T	rs11556036		TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:24021184C>T	ENST00000374550.3	+	4	344	c.299C>T	c.(298-300)tCa>tTa	p.S100L	RPL11_ENST00000482370.1_3'UTR	NM_000975.3|NM_001199802.1	NP_000966.2|NP_001186731.1	P62913	RL11_HUMAN	ribosomal protein L11	100					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein localization to nucleus (GO:0034504)|protein targeting (GO:0006605)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)	p.S100L(2)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)		AACAACTTCTCAGATACTGGA	0.438																																							uc001bhk.2		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(298-300)TCA>TTA		ribosomal protein L11							139.0	138.0	138.0					1																	24021184		2203	4300	6503	SO:0001583	missense	6135				endocrine pancreas development|protein localization to nucleus|protein targeting|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome	g.chr1:24021184C>T	L05092	CCDS238.1	1p36.1-p35	2011-04-06			ENSG00000142676	ENSG00000142676		"""L ribosomal proteins"""	10301	protein-coding gene	gene with protein product		604175				9582194, 10343117	Standard	NM_000975		Approved	L11	uc001bhk.3	P62913	OTTHUMG00000002926	ENST00000374550.3:c.299C>T	1.37:g.24021184C>T	ENSP00000363676:p.Ser100Leu					RPL11_uc001bhl.2_Missense_Mutation_p.S99L|RPL11_uc001bhm.2_Missense_Mutation_p.S89L|RPL11_uc001bhn.1_Missense_Mutation_p.S89L	p.S100L	NM_000975	NP_000966	P62913	RL11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)	4	319	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	100					P25121|P39026|Q8TDH2|Q9Y674	Missense_Mutation	SNP	ENST00000374550.3	37	c.299C>T	CCDS238.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.686787	0.88639	.	.	ENSG00000142676	ENST00000374550;ENST00000443624;ENST00000458455	T;T;T	0.78481	-1.18;-1.18;-1.18	5.83	4.92	0.64577	Ribosomal protein L5 domain (2);	0.000000	0.85682	D	0.000000	D	0.87759	0.6258	M	0.93550	3.43	0.80722	D	1	B;B	0.21452	0.004;0.056	B;B	0.40825	0.178;0.341	D	0.87704	0.2562	10	0.87932	D	0	-6.9498	14.9819	0.71316	0.0:0.9317:0.0:0.0683	rs11556036;rs11556036	99;100	P62913-2;P62913	.;RL11_HUMAN	L	100;98;98	ENSP00000363676:S100L;ENSP00000390839:S98L;ENSP00000398888:S98L	ENSP00000363676:S100L	S	+	2	0	RPL11	23893771	1.000000	0.71417	0.969000	0.41365	0.740000	0.42216	7.596000	0.82721	1.484000	0.48361	-0.150000	0.13652	TCA		0.438	RPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008168.1	NM_000975		33	123	0	0	0	0.009535	0	33	123				
MACF1	23499	broad.mit.edu	37	1	39797800	39797800	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:39797800C>T	ENST00000372915.3	+	36	5642	c.5555C>T	c.(5554-5556)tCa>tTa	p.S1852L	MACF1_ENST00000539005.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.S1884L|MACF1_ENST00000564288.1_Missense_Mutation_p.S1847L|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.S287L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1852					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.S287L(2)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TCCCTCTGGTCATTCATGGGG	0.463																																							uc010oiu.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(859-861)TCA>TTA		microfilament and actin filament cross-linker							126.0	119.0	121.0					1																	39797800		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39797800C>T	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.5555C>T	1.37:g.39797800C>T	ENSP00000362006:p.Ser1852Leu					MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron	p.S287L	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		1	991	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	1852					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.860C>T		.	.	.	.	.	.	.	.	.	.	C	14.97	2.695192	0.48202	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.67345	-0.26;-0.26	5.34	5.34	0.76211	.	0.000000	0.45361	D	0.000375	T	0.77478	0.4136	L	0.42245	1.32	0.80722	D	1	D	0.64830	0.994	D	0.75020	0.985	T	0.78465	-0.2193	10	0.59425	D	0.04	.	19.0508	0.93043	0.0:1.0:0.0:0.0	.	1852	Q9UPN3	MACF1_HUMAN	L	1852;287	ENSP00000362006:S1852L;ENSP00000289893:S287L	ENSP00000289893:S287L	S	+	2	0	MACF1	39570387	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	3.191000	0.50981	2.510000	0.84645	0.555000	0.69702	TCA		0.463	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		34	151	0	0	0	0.002445	0	34	151				
SZT2	23334	broad.mit.edu	37	1	43893319	43893319	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:43893319C>T	ENST00000562955.1	+	25	3546	c.3546C>T	c.(3544-3546)gtC>gtT	p.V1182V	SZT2_ENST00000372442.1_Silent_p.V340V	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1239					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)		p.V340V(4)|p.V1182V(2)		NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GGTGTCCTGTCTACATCTACA	0.602																																							uc001cjk.1		NA																	6	Substitution - coding silent(6)		lung(6)		0						c.(1018-1020)GTC>GTT		hypothetical protein LOC23334							60.0	66.0	64.0					1																	43893319		2203	4300	6503	SO:0001819	synonymous_variant	23334					peroxisome		g.chr1:43893319C>T	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.3546C>T	1.37:g.43893319C>T							p.V340V	NM_015284	NP_056099	Q5T011	SZT2_HUMAN			11	1482	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	1239					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Silent	SNP	ENST00000562955.1	37	c.1020C>T	CCDS30694.2																																																																																				0.602	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		19	140	0	0	0	0.007413	0	19	140				
HYI	81888	broad.mit.edu	37	1	43917151	43917151	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:43917151G>A	ENST00000372425.4	-	7	885	c.690C>T	c.(688-690)ttC>ttT	p.F230F	SZT2_ENST00000372442.1_3'UTR|SZT2_ENST00000562955.1_3'UTR|SZT2-AS1_ENST00000396885.2_RNA|HYI_ENST00000372434.1_Silent_p.F255F|HYI_ENST00000372426.1_Silent_p.F182F|HYI_ENST00000372432.1_Silent_p.F230F|HYI_ENST00000583037.1_Silent_p.F157F|HYI-AS1_ENST00000444386.1_RNA|HYI_ENST00000486909.1_Silent_p.F230F			Q5T013	HYI_HUMAN	hydroxypyruvate isomerase (putative)	230							hydroxypyruvate isomerase activity (GO:0008903)	p.F230F(2)|p.F157F(2)		large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	6	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ACAGATAGGGGAAATTCAGCT	0.607																																							uc001cjo.2		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(1)	1						c.(688-690)TTC>TTT		hydroxypyruvate isomerase homolog							61.0	68.0	66.0					1																	43917151		2203	4300	6503	SO:0001819	synonymous_variant	81888						hydroxypyruvate isomerase activity	g.chr1:43917151G>A		CCDS488.1, CCDS488.2, CCDS53309.1, CCDS72771.1	1p34.2	2010-06-24	2010-06-24		ENSG00000178922	ENSG00000178922	5.3.1.22		26948	protein-coding gene	gene with protein product			"""hydroxypyruvate isomerase homolog (E. coli)"""			10561547	Standard	NM_031207		Approved	HT036	uc001cjo.3	Q5T013	OTTHUMG00000007502	ENST00000372425.4:c.690C>T	1.37:g.43917151G>A						KIAA0467_uc001cjk.1_3'UTR|KIAA0467_uc001cjl.1_3'UTR|HYI_uc001cjm.2_Silent_p.F157F|HYI_uc001cjn.2_Silent_p.F230F|HYI_uc001cjp.2_Silent_p.F157F	p.F230F	NM_031207	NP_112484	Q5T013	HYI_HUMAN			7	860	-	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	230					D3DPX4|D3DPX5|Q5Q9A2|Q7Z778|Q96S83|Q9BZR3|Q9BZR4	Silent	SNP	ENST00000372425.4	37	c.690C>T	CCDS53309.1	.	.	.	.	.	.	.	.	.	.	G	9.822	1.186056	0.21870	.	.	ENSG00000178922	ENST00000470662;ENST00000487366	.	.	.	5.52	3.63	0.41609	.	.	.	.	.	T	0.62307	0.2417	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61023	-0.7146	4	.	.	.	.	11.534	0.50626	0.1446:0.0:0.8554:0.0	.	.	.	.	F	139;144	.	.	S	-	2	0	HYI	43689738	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.759000	0.47573	1.472000	0.48140	0.563000	0.77884	TCC		0.607	HYI-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_031207		38	128	0	0	0	0.004878	0	38	128				
ERI3	79033	broad.mit.edu	37	1	44785335	44785335	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:44785335C>T	ENST00000372257.2	-	4	752	c.571G>A	c.(571-573)Gta>Ata	p.V191I	ERI3_ENST00000372259.5_Missense_Mutation_p.V76I|ERI3_ENST00000537474.1_Missense_Mutation_p.V14I|ERI3_ENST00000495828.1_5'UTR	NM_024066.1	NP_076971.1	O43414	ERI3_HUMAN	ERI1 exoribonuclease family member 3	191	Exonuclease.						exonuclease activity (GO:0004527)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.V191I(2)		endometrium(2)|large_intestine(2)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GGATGGACTACAGGCTGGACA	0.517																																							uc001clt.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|large_intestine(1)	3						c.(571-573)GTA>ATA		prion protein interacting protein							118.0	114.0	115.0					1																	44785335		2203	4300	6503	SO:0001583	missense	79033					intracellular	exonuclease activity|metal ion binding|nucleic acid binding	g.chr1:44785335C>T	AF007157	CCDS30696.1	1p34.1	2009-10-07	2009-10-07	2008-12-16	ENSG00000117419	ENSG00000117419		"""Enhanced RNAi three prime mRNA exonucleases"""	17276	protein-coding gene	gene with protein product	"""enhanced RNAi three prime mRNA exonuclease homolog 3 (C.elegans)"", ""exoribonuclease 3"""	609917	"""prion protein interacting protein"""	PRNPIP			Standard	XM_005271184		Approved	FLJ22943, PINT1	uc001clt.3	O43414	OTTHUMG00000007637	ENST00000372257.2:c.571G>A	1.37:g.44785335C>T	ENSP00000361331:p.Val191Ile					ERI3_uc010okv.1_Missense_Mutation_p.V14I|ERI3_uc009vxg.2_Missense_Mutation_p.V191I|ERI3_uc010okw.1_Missense_Mutation_p.V113I|ERI3_uc001clu.2_Missense_Mutation_p.V113I	p.V191I	NM_024066	NP_076971	O43414	ERI3_HUMAN			4	812	-			191			Exonuclease.		B1AK98|Q5T2T7|Q5T2T9|Q5TG35|Q9BQA0|Q9UEB4	Missense_Mutation	SNP	ENST00000372257.2	37	c.571G>A	CCDS30696.1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.071450	0.55646	.	.	ENSG00000117419	ENST00000372257;ENST00000372259;ENST00000456170;ENST00000537474;ENST00000433471;ENST00000372253;ENST00000452396;ENST00000457571	T;T;T;T;T;T	0.22945	1.93;1.93;1.93;1.93;1.93;1.93	5.96	5.96	0.96718	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	0.401729	0.24113	N	0.041430	T	0.22936	0.0554	N	0.25825	0.765	0.38289	D	0.942644	B;B;B	0.15141	0.012;0.001;0.004	B;B;B	0.16722	0.013;0.006;0.016	T	0.06789	-1.0807	10	0.25751	T	0.34	.	20.422	0.99049	0.0:1.0:0.0:0.0	.	189;113;191	F6UGJ8;B4DN03;O43414	.;.;ERI3_HUMAN	I	191;76;30;14;73;57;73;189	ENSP00000361331:V191I;ENSP00000361333:V76I;ENSP00000390710:V30I;ENSP00000438360:V14I;ENSP00000396764:V73I;ENSP00000412291:V189I	ENSP00000361327:V57I	V	-	1	0	ERI3	44557922	0.986000	0.35501	0.998000	0.56505	0.992000	0.81027	2.604000	0.46274	2.832000	0.97577	0.655000	0.94253	GTA		0.517	ERI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020243.1	NM_024066		18	215	0	0	0	0.007413	0	18	215				
GPBP1L1	60313	broad.mit.edu	37	1	46120223	46120223	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:46120223C>T	ENST00000290795.3	-	5	1690	c.469G>A	c.(469-471)Gag>Aag	p.E157K	GPBP1L1_ENST00000355105.3_Missense_Mutation_p.E157K			Q9HC44	GPBL1_HUMAN	GC-rich promoter binding protein 1-like 1	157					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E157K(2)	GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					ACAAAGTCCTCCTCTTCAAAC	0.388																																							uc001coq.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(469-471)GAG>AAG		GC-rich promoter binding protein 1-like 1							89.0	93.0	92.0					1																	46120223		2203	4300	6503	SO:0001583	missense	60313				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr1:46120223C>T		CCDS528.1	1p34.1	2008-02-05			ENSG00000159592	ENSG00000159592			28843	protein-coding gene	gene with protein product						12477932	Standard	NM_021639		Approved	SP192	uc001coq.3	Q9HC44	OTTHUMG00000040990	ENST00000290795.3:c.469G>A	1.37:g.46120223C>T	ENSP00000290795:p.Glu157Lys						p.E157K	NM_021639	NP_067652	Q9HC44	GPBL1_HUMAN			6	1830	-	Acute lymphoblastic leukemia(166;0.155)		157					D3DQ10|Q9H751	Missense_Mutation	SNP	ENST00000290795.3	37	c.469G>A	CCDS528.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.970318	0.74246	.	.	ENSG00000159592	ENST00000290795;ENST00000355105	T;T	0.47528	0.84;0.84	5.77	4.86	0.63082	.	0.097761	0.64402	D	0.000002	T	0.49098	0.1537	M	0.75777	2.31	0.47819	D	0.999524	B	0.31318	0.319	B	0.26416	0.069	T	0.54609	-0.8268	10	0.87932	D	0	-4.2887	14.6597	0.68861	0.0:0.9306:0.0:0.0694	.	157	Q9HC44	GPBL1_HUMAN	K	157	ENSP00000290795:E157K;ENSP00000347224:E157K	ENSP00000290795:E157K	E	-	1	0	GPBP1L1	45892810	1.000000	0.71417	0.880000	0.34516	0.936000	0.57629	7.219000	0.78000	1.440000	0.47531	0.655000	0.94253	GAG		0.388	GPBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098375.1	NM_021639		13	141	0	0	0	0.004007	0	13	141				
C1orf87	127795	broad.mit.edu	37	1	60505791	60505791	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:60505791C>G	ENST00000371201.3	-	5	652	c.545G>C	c.(544-546)aGa>aCa	p.R182T	C1orf87_ENST00000450089.2_Intron	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	182							calcium ion binding (GO:0005509)	p.R182T(2)		breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GAGTTCTCTTCTGACCAGGGC	0.423																																					NSCLC(75;811 1386 4923 13371 51772)	NSCLC(75;811 1386 4923 13371 51772)	uc001czs.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)	2						c.(544-546)AGA>ACA		hypothetical protein LOC127795							97.0	105.0	103.0					1																	60505791		2203	4300	6503	SO:0001583	missense	127795						calcium ion binding	g.chr1:60505791C>G	AK124828	CCDS614.1	1p32.1	2014-04-03			ENSG00000162598	ENSG00000162598			28547	protein-coding gene	gene with protein product	"""carcinoma-related EF-hand protein"""					12477932	Standard	NM_152377		Approved	MGC34837, CREF	uc001czs.2	Q8N0U7	OTTHUMG00000008992	ENST00000371201.3:c.545G>C	1.37:g.60505791C>G	ENSP00000360244:p.Arg182Thr						p.R182T	NM_152377	NP_689590	Q8N0U7	CA087_HUMAN			5	637	-			182					Q6ZU07|Q8IVS0	Missense_Mutation	SNP	ENST00000371201.3	37	c.545G>C	CCDS614.1	.	.	.	.	.	.	.	.	.	.	C	14.49	2.550775	0.45383	.	.	ENSG00000162598	ENST00000371201	T	0.21191	2.02	5.18	3.06	0.35304	.	0.270546	0.27927	N	0.017289	T	0.24044	0.0582	L	0.59436	1.845	0.80722	D	1	P	0.48016	0.904	P	0.48227	0.571	T	0.02126	-1.1209	10	0.31617	T	0.26	-8.1131	6.3421	0.21328	0.0:0.657:0.0:0.343	.	182	Q8N0U7	CA087_HUMAN	T	182	ENSP00000360244:R182T	ENSP00000360244:R182T	R	-	2	0	C1orf87	60278379	1.000000	0.71417	1.000000	0.80357	0.487000	0.33371	0.784000	0.26816	0.587000	0.29643	0.650000	0.86243	AGA		0.423	C1orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024943.1	NM_152377		40	183	0	0	0	0.005524	0	40	183				
ST6GALNAC3	256435	broad.mit.edu	37	1	77094490	77094490	+	Nonstop_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:77094490G>C	ENST00000328299.3	+	5	1065	c.917G>C	c.(916-918)tGa>tCa	p.*306S		NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	0					glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sialyltransferase activity (GO:0008373)	p.*306S(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						ACATTGTCTTGATAATGGTTT	0.398																																							uc001dhh.2		NA																	2	Nonstop extension(2)		lung(2)	ovary(3)|skin(2)	5						c.(916-918)TGA>TCA		sialyltransferase 7C isoform 1							156.0	160.0	159.0					1																	77094490		2203	4300	6503	SO:0001578	stop_lost	256435				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr1:77094490G>C		CCDS672.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000184005	ENSG00000184005		"""Sialyltransferases"""	19343	protein-coding gene	gene with protein product	"""ST6GALNAC III"""	610133	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) C"""	SIAT7C			Standard	NM_152996		Approved		uc001dhh.2	Q8NDV1	OTTHUMG00000009615	ENST00000328299.3:c.917G>C	1.37:g.77094490G>C	ENSP00000329214:p.*306Serext*1					ST6GALNAC3_uc010orh.1_Nonstop_Mutation_p.*205S	p.*306S	NM_152996	NP_694541	Q8NDV1	SIA7C_HUMAN			5	1080	+			306					Q6PCE0|Q6UX29|Q8N259	Nonstop_Mutation	SNP	ENST00000328299.3	37	c.917G>C	CCDS672.1	.	.	.	.	.	.	.	.	.	.	g	13.25	2.180898	0.38511	.	.	ENSG00000184005	ENST00000328299;ENST00000394993;ENST00000415813	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6397	0.95753	0.0:0.0:1.0:0.0	.	.	.	.	S	306;305;204	.	.	X	+	2	2	ST6GALNAC3	76867078	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	8.952000	0.93031	2.704000	0.92352	0.645000	0.84053	TGA		0.398	ST6GALNAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026501.1	NM_152996		32	118	0	0	0	0.002836	0	32	118				
EVI5	7813	broad.mit.edu	37	1	93159385	93159385	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:93159385G>A	ENST00000370331.1	-	9	1212	c.1203C>T	c.(1201-1203)gtC>gtT	p.V401V	EVI5_ENST00000540033.1_Silent_p.V401V|EVI5_ENST00000543509.1_Silent_p.V401V	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	401	Dimerization.|Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Targeting to the centrosomes.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|retrograde transport, endosome to Golgi (GO:0042147)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)	p.V401V(2)		breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		AATTGTATTTGACTTGGTAAG	0.308																																							uc001dox.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|breast(1)	2						c.(1201-1203)GTC>GTT		ecotropic viral integration site 5							111.0	119.0	116.0					1																	93159385		2203	4300	6503	SO:0001819	synonymous_variant	7813				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity	g.chr1:93159385G>A	AF008915	CCDS30774.1	1p22	2013-07-09			ENSG00000067208	ENSG00000067208			3501	protein-coding gene	gene with protein product	"""neuroblastoma stage 4S gene"""	602942				9618176	Standard	XM_005271180		Approved	NB4S	uc001dox.3	O60447	OTTHUMG00000010895	ENST00000370331.1:c.1203C>T	1.37:g.93159385G>A						EVI5_uc010otf.1_Silent_p.V401V|EVI5_uc001doy.1_RNA	p.V401V	NM_005665	NP_005656	O60447	EVI5_HUMAN		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)	9	1213	-		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)	401			Dimerization.|Targeting to the centrosomes.|Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.		A6NKX8|B9A6J0|Q9H1Y9	Silent	SNP	ENST00000370331.1	37	c.1203C>T	CCDS30774.1																																																																																				0.308	EVI5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030047.1	NM_005665		39	215	0	0	0	0.002522	0	39	215				
AP4B1	10717	broad.mit.edu	37	1	114438396	114438396	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:114438396G>T	ENST00000369569.1	-	9	2055	c.1775C>A	c.(1774-1776)tCa>tAa	p.S592*	AP4B1_ENST00000369567.1_Nonsense_Mutation_p.S424*|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000256658.4_Nonsense_Mutation_p.S592*|AP4B1_ENST00000462591.1_5'UTR	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	592					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|trans-Golgi network (GO:0005802)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)	p.S592*(2)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGCAAAGGATGAAGTTTTAGG	0.443																																							uc001eeb.2		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(3)|central_nervous_system(1)	4						c.(1774-1776)TCA>TAA		adaptor-related protein complex 4, beta 1							81.0	83.0	83.0					1																	114438396		2203	4300	6503	SO:0001587	stop_gained	10717				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity	g.chr1:114438396G>T	AF092094	CCDS865.1	1p13.2	2012-03-30			ENSG00000134262	ENSG00000134262			572	protein-coding gene	gene with protein product	"""beta 4 subunit of AP-4"""	607245	"""spastic paraplegia 47"""	SPG47		10066790	Standard	NM_006594		Approved	BETA-4	uc001eeb.3	Q9Y6B7	OTTHUMG00000011943	ENST00000369569.1:c.1775C>A	1.37:g.114438396G>T	ENSP00000358582:p.Ser592*					uc001edv.1_Intron|AP4B1_uc001eec.2_Nonsense_Mutation_p.S424*|AP4B1_uc001eed.2_Nonsense_Mutation_p.S592*|AP4B1_uc010owp.1_Nonsense_Mutation_p.S493*|AP4B1_uc001eea.1_3'UTR|AP4B1_uc001eee.1_Nonsense_Mutation_p.S119*	p.S592*	NM_006594	NP_006585	Q9Y6B7	AP4B1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	9	1918	-	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	592					B7Z4X3|Q59EJ4|Q96CL6	Nonsense_Mutation	SNP	ENST00000369569.1	37	c.1775C>A	CCDS865.1	.	.	.	.	.	.	.	.	.	.	G	16.71	3.198361	0.58126	.	.	ENSG00000134262	ENST00000369567;ENST00000369569;ENST00000256658	.	.	.	5.65	4.69	0.59074	.	0.605656	0.17371	N	0.176690	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.0513	0.53507	0.0:0.1366:0.7381:0.1252	.	.	.	.	X	424;592;592	.	ENSP00000256658:S592X	S	-	2	0	AP4B1	114239919	0.071000	0.21146	0.051000	0.19133	0.022000	0.10575	2.010000	0.40913	2.662000	0.90505	0.563000	0.77884	TCA		0.443	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033037.1	NM_006594		19	88	1	0	6.33239e-15	0.010504	7.5492e-15	19	88				
GDAP2	54834	broad.mit.edu	37	1	118420645	118420645	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:118420645C>T	ENST00000369443.5	-	13	1681	c.1432G>A	c.(1432-1434)Gaa>Aaa	p.E478K	GDAP2_ENST00000369442.3_Missense_Mutation_p.E478K	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2	478	CRAL-TRIO.				response to retinoic acid (GO:0032526)	lysosomal membrane (GO:0005765)		p.E478K(2)		kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		GCATCATATTCAAGGACAAAA	0.453																																							uc001ehf.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1432-1434)GAA>AAA		ganglioside induced differentiation associated							130.0	120.0	123.0					1																	118420645		2203	4300	6503	SO:0001583	missense	54834							g.chr1:118420645C>T	AK000149	CCDS897.1, CCDS44201.1	1q11	2011-10-20			ENSG00000196505	ENSG00000196505			18010	protein-coding gene	gene with protein product						1021725	Standard	NM_017686		Approved	FLJ20142, dJ776P7.1, MACROD3	uc001ehf.3	Q9NXN4	OTTHUMG00000012199	ENST00000369443.5:c.1432G>A	1.37:g.118420645C>T	ENSP00000358451:p.Glu478Lys					GDAP2_uc001ehg.2_Missense_Mutation_p.E478K	p.E478K	NM_017686	NP_060156	Q9NXN4	GDAP2_HUMAN		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)	13	1731	-		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)	478			CRAL-TRIO.		Q96DZ0	Missense_Mutation	SNP	ENST00000369443.5	37	c.1432G>A	CCDS897.1	.	.	.	.	.	.	.	.	.	.	C	34	5.395819	0.96009	.	.	ENSG00000196505	ENST00000369443;ENST00000369442	T;T	0.61742	0.08;0.08	5.35	5.35	0.76521	Cellular retinaldehyde-binding/triple function, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.63438	0.2511	L	0.61036	1.89	0.80722	D	1	D;P	0.55385	0.971;0.943	P;P	0.55749	0.783;0.689	T	0.67256	-0.5716	10	0.87932	D	0	-25.4578	17.6154	0.88066	0.0:1.0:0.0:0.0	.	478;478	Q9NXN4-2;Q9NXN4	.;GDAP2_HUMAN	K	478	ENSP00000358451:E478K;ENSP00000358450:E478K	ENSP00000358450:E478K	E	-	1	0	GDAP2	118222168	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.133000	0.77259	2.668000	0.90789	0.655000	0.94253	GAA		0.453	GDAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033732.2	NM_017686		12	110	0	0	0	0.004007	0	12	110				
SMG5	23381	broad.mit.edu	37	1	156244470	156244470	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:156244470C>G	ENST00000361813.5	-	5	606	c.462G>C	c.(460-462)aaG>aaC	p.K154N	SMG5_ENST00000368267.5_Missense_Mutation_p.K154N	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	154					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)	p.K154N(2)		NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					ACACTGGCTTCTTGCATCCTA	0.473																																							uc001foc.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)|pancreas(1)	5						c.(460-462)AAG>AAC		SMG5 homolog nonsense mediated mRNA decay							143.0	124.0	131.0					1																	156244470		2203	4300	6503	SO:0001583	missense	23381				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding	g.chr1:156244470C>G	AB029012	CCDS1137.1	1q21	2013-07-02	2013-07-02		ENSG00000198952	ENSG00000198952			24644	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog B (S. cerevisiae)"""	610962	"""smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans)"""			12676087, 12699629	Standard	NM_015327		Approved	KIAA1089, LPTS-RP1, LPTSRP1, RP11-54H19.7, SMG-5, EST1B	uc001foc.4	Q9UPR3	OTTHUMG00000017491	ENST00000361813.5:c.462G>C	1.37:g.156244470C>G	ENSP00000355261:p.Lys154Asn						p.K154N	NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN			5	611	-	Hepatocellular(266;0.158)		154					D3DVB7|Q5QJE7|Q659C7|Q8IXC0|Q8IY09|Q96IJ7	Missense_Mutation	SNP	ENST00000361813.5	37	c.462G>C	CCDS1137.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.828299	0.50845	.	.	ENSG00000198952	ENST00000361813;ENST00000368267	T;T	0.17370	2.28;2.28	5.6	4.7	0.59300	Telomerase activating protein Est1 (1);	0.000000	0.85682	D	0.000000	T	0.10937	0.0267	L	0.58101	1.795	0.58432	D	0.999991	B	0.25904	0.137	B	0.30401	0.115	T	0.02588	-1.1137	10	0.51188	T	0.08	-26.7189	13.2363	0.59971	0.0:0.9231:0.0:0.0769	.	154	Q9UPR3	SMG5_HUMAN	N	154	ENSP00000355261:K154N;ENSP00000357250:K154N	ENSP00000355261:K154N	K	-	3	2	SMG5	154511094	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	4.901000	0.63259	1.373000	0.46208	0.591000	0.81541	AAG		0.473	SMG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046308.1	NM_015327		34	124	0	0	0	0.003755	0	34	124				
OR10X1	128367	broad.mit.edu	37	1	158549566	158549566	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:158549566A>T	ENST00000368150.1	-	1	123	c.124T>A	c.(124-126)Ttt>Att	p.F42I		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	42						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F42I(2)		breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					ACAAAAAGAAATGTCTGTACA	0.418																																							uc010pin.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(124-126)TTT>ATT		olfactory receptor, family 10, subfamily X,							127.0	126.0	126.0					1																	158549566		2203	4300	6503	SO:0001583	missense	128367				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158549566A>T	BK004194	CCDS30900.1	1q23.1	2013-10-10	2013-10-10	2004-03-10	ENSG00000186400	ENSG00000186400		"""GPCR / Class A : Olfactory receptors"""	14995	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily X, member 1"""	OR10X1P			Standard	NM_001004477		Approved		uc010pin.2	Q8NGY0	OTTHUMG00000019635	ENST00000368150.1:c.124T>A	1.37:g.158549566A>T	ENSP00000357132:p.Phe42Ile						p.F42I	NM_001004477	NP_001004477	Q8NGY0	O10X1_HUMAN			1	124	-	all_hematologic(112;0.0378)		42			Helical; Name=1; (Potential).		Q6IFR8	Missense_Mutation	SNP	ENST00000368150.1	37	c.124T>A	CCDS30900.1	.	.	.	.	.	.	.	.	.	.	A	9.553	1.116389	0.20795	.	.	ENSG00000186400	ENST00000368150	T	0.00418	7.49	5.13	2.76	0.32466	.	0.616040	0.14549	N	0.312769	T	0.00039	0.0001	N	0.05574	-0.02	0.09310	N	1	B	0.24533	0.105	B	0.15484	0.013	T	0.07271	-1.0781	10	0.17369	T	0.5	.	3.1952	0.06630	0.6378:0.1477:0.0845:0.1299	.	42	Q8NGY0	O10X1_HUMAN	I	42	ENSP00000357132:F42I	ENSP00000357132:F42I	F	-	1	0	OR10X1	156816190	0.000000	0.05858	0.003000	0.11579	0.981000	0.71138	-0.633000	0.05483	0.960000	0.38005	0.528000	0.53228	TTT		0.418	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051850.2	NM_001004477		21	133	0	0	0	0.008871	0	21	133				
CACNA1E	777	broad.mit.edu	37	1	181480642	181480642	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:181480642A>G	ENST00000367573.2	+	3	508	c.508A>G	c.(508-510)Agt>Ggt	p.S170G	CACNA1E_ENST00000360108.3_Missense_Mutation_p.S170G|CACNA1E_ENST00000526775.1_Missense_Mutation_p.S170G|CACNA1E_ENST00000358338.5_Missense_Mutation_p.S121G|CACNA1E_ENST00000357570.5_Missense_Mutation_p.S121G|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000367570.1_Missense_Mutation_p.S170G	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	170					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)	p.S170G(4)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CGTGGTCCTCAGTGGGTAAGT	0.522																																							uc001gow.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(508-510)AGT>GGT		calcium channel, voltage-dependent, R type,							159.0	155.0	157.0					1																	181480642		1976	4158	6134	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181480642A>G	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.508A>G	1.37:g.181480642A>G	ENSP00000356545:p.Ser170Gly					CACNA1E_uc009wxr.2_Missense_Mutation_p.S77G|CACNA1E_uc009wxs.2_Missense_Mutation_p.S77G	p.S170G	NM_000721	NP_000712	Q15878	CAC1E_HUMAN			3	673	+			170			I.|Helical; Name=S3 of repeat I.		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.508A>G	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	A	15.23	2.771085	0.49680	.	.	ENSG00000198216	ENST00000524607;ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.97378	-4.36;-4.36;-4.36;-4.36;-4.36;-4.36;-4.36	5.4	5.4	0.78164	.	.	.	.	.	D	0.94761	0.8309	L	0.33624	1.015	0.80722	D	1	B;B	0.33549	0.417;0.417	B;B	0.38500	0.275;0.275	D	0.93904	0.7191	9	0.35671	T	0.21	.	15.0959	0.72235	1.0:0.0:0.0:0.0	.	170;170	Q15878-2;Q15878-3	.;.	G	170;170;170;121;121;170;170	ENSP00000432038:S170G;ENSP00000356542:S170G;ENSP00000434814:S170G;ENSP00000350183:S121G;ENSP00000351101:S121G;ENSP00000353222:S170G;ENSP00000356545:S170G	ENSP00000350183:S121G	S	+	1	0	CACNA1E	179747265	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.153000	0.94687	2.048000	0.60808	0.533000	0.62120	AGT		0.522	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		48	206	0	0	0	0.00361	0	48	206				
DENND1B	163486	broad.mit.edu	37	1	197576259	197576259	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:197576259C>G	ENST00000367396.3	-	13	1034	c.865G>C	c.(865-867)Gat>Cat	p.D289H	DENND1B_ENST00000400967.2_Missense_Mutation_p.D259H|DENND1B_ENST00000235453.4_Missense_Mutation_p.D259H	NM_144977.4	NP_659414.2	Q6P3S1	DEN1B_HUMAN	DENN/MADD domain containing 1B	289	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.D289H(2)|p.D259H(2)		NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	22						GTGTTTGTATCAACATTTAAC	0.294																																							uc001guf.3		NA																	4	Substitution - Missense(4)		lung(4)		0						c.(865-867)GAT>CAT		DENN/MADD domain containing 1B isoform 2							132.0	120.0	124.0					1																	197576259		1861	4101	5962	SO:0001583	missense	163486					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity	g.chr1:197576259C>G	BC016588	CCDS41452.2, CCDS72996.1, CCDS72997.1	1q31.3	2012-10-03	2005-08-17	2005-08-17	ENSG00000213047	ENSG00000213047		"""DENN/MADD domain containing"""	28404	protein-coding gene	gene with protein product		613292	"""family with sequence similarity 31, member B"", ""chromosome 1 open reading frame 218"""	FAM31B, C1orf218		12477932	Standard	NM_144977		Approved	MGC27044, FLJ20054	uc021pgu.1	Q6P3S1	OTTHUMG00000035653	ENST00000367396.3:c.865G>C	1.37:g.197576259C>G	ENSP00000356366:p.Asp289His					DENND1B_uc010ppe.1_Missense_Mutation_p.D269H|DENND1B_uc010ppf.1_RNA|DENND1B_uc001gue.3_Missense_Mutation_p.D259H|DENND1B_uc001gug.3_Missense_Mutation_p.D88H	p.D289H	NM_144977	NP_659414	Q6P3S1	DEN1B_HUMAN			13	1203	-			289			DENN.		B5MD89|D3PFD5|Q5T3B8|Q5T3B9|Q5T3C1|Q5TAI8|Q6B0I8|Q8NDT1|Q8TBE6|Q9H774|Q9NXU2	Missense_Mutation	SNP	ENST00000367396.3	37	c.865G>C	CCDS41452.2	.	.	.	.	.	.	.	.	.	.	C	18.90	3.722217	0.68959	.	.	ENSG00000213047	ENST00000542760;ENST00000450419;ENST00000235453;ENST00000367396;ENST00000400967	T;T;T	0.21932	1.98;1.98;1.98	5.03	5.03	0.67393	DENN (3);	0.115833	0.56097	D	0.000027	T	0.61912	0.2385	H	0.96269	3.795	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.79784	0.99;0.993;0.987;0.984	T	0.75964	-0.3132	10	0.72032	D	0.01	-16.3369	18.7191	0.91686	0.0:1.0:0.0:0.0	.	289;269;289;259	Q6P3S1-5;Q6P3S1-3;Q6P3S1;Q6P3S1-4	.;.;DEN1B_HUMAN;.	H	289;269;259;289;259	ENSP00000235453:D259H;ENSP00000356366:D289H;ENSP00000383751:D259H	ENSP00000235453:D259H	D	-	1	0	DENND1B	195842882	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.111000	0.77077	2.504000	0.84457	0.650000	0.86243	GAT		0.294	DENND1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086539.1	NM_144977		8	57	0	0	0	0.006214	0	8	57				
ACTN2	88	broad.mit.edu	37	1	236908017	236908017	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:236908017C>G	ENST00000366578.4	+	12	1513	c.1347C>G	c.(1345-1347)agC>agG	p.S449R	ACTN2_ENST00000546208.1_5'UTR|ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000542672.1_Missense_Mutation_p.S449R	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	449					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)	p.S449R(2)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CGTTCGAGAGCGACCTGGCAG	0.642																																							uc001hyf.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(1)	5						c.(1345-1347)AGC>AGG		actinin, alpha 2							62.0	54.0	57.0					1																	236908017		2203	4300	6503	SO:0001583	missense	88				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	g.chr1:236908017C>G	BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.1347C>G	1.37:g.236908017C>G	ENSP00000355537:p.Ser449Arg					ACTN2_uc001hyg.2_Missense_Mutation_p.S241R|ACTN2_uc009xgi.1_Missense_Mutation_p.S449R|ACTN2_uc010pxu.1_Missense_Mutation_p.S138R|ACTN2_uc001hyh.2_Missense_Mutation_p.S137R	p.S449R	NM_001103	NP_001094	P35609	ACTN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00168)		12	1551	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	449			Spectrin 2.		B1ANE4|B2RCS5|Q86TF4|Q86TI8	Missense_Mutation	SNP	ENST00000366578.4	37	c.1347C>G	CCDS1613.1	.	.	.	.	.	.	.	.	.	.	C	19.91	3.914368	0.72983	.	.	ENSG00000077522	ENST00000542672;ENST00000366578;ENST00000545611	T;T	0.48836	0.8;0.8	5.17	-2.01	0.07410	.	0.035034	0.85682	D	0.000000	T	0.62732	0.2452	M	0.76433	2.335	0.80722	D	1	D;P;D;D	0.71674	0.972;0.825;0.991;0.998	D;P;D;D	0.83275	0.957;0.575;0.957;0.996	T	0.64753	-0.6333	10	0.87932	D	0	.	11.5799	0.50885	0.0:0.5961:0.0:0.4039	.	234;449;219;449	B7Z4K1;B2RCS5;Q59FD9;P35609	.;.;.;ACTN2_HUMAN	R	449;449;218	ENSP00000443495:S449R;ENSP00000355537:S449R	ENSP00000355537:S449R	S	+	3	2	ACTN2	234974640	0.030000	0.19436	0.993000	0.49108	0.979000	0.70002	-0.684000	0.05173	-0.300000	0.08895	-0.244000	0.11960	AGC		0.642	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103		17	73	0	0	0	0.00499	0	17	73				
FMN2	56776	broad.mit.edu	37	1	240497523	240497523	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:240497523T>G	ENST00000319653.9	+	13	4989	c.4759T>G	c.(4759-4761)Ttg>Gtg	p.L1587V	FMN2_ENST00000545751.1_Missense_Mutation_p.L183V	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1587	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.L1730V(2)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GAAGAAAGACTTGAAAGGTAA	0.353																																							uc010pyd.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(4759-4761)TTG>GTG		formin 2							98.0	111.0	106.0					1																	240497523		2202	4298	6500	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240497523T>G	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.4759T>G	1.37:g.240497523T>G	ENSP00000318884:p.Leu1587Val					FMN2_uc010pye.1_Missense_Mutation_p.L1591V|FMN2_uc010pyf.1_Missense_Mutation_p.L233V|FMN2_uc010pyg.1_Missense_Mutation_p.L183V	p.L1587V	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		13	4984	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1587			FH2.|Potential.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.4759T>G	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	T	13.07	2.127175	0.37533	.	.	ENSG00000155816	ENST00000319653;ENST00000545751;ENST00000537355;ENST00000406993	T;T	0.18960	2.18;2.18	5.56	2.02	0.26589	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.295721	0.23631	N	0.046140	T	0.37544	0.1007	M	0.66439	2.03	0.80722	D	1	B;B;P;D	0.53745	0.103;0.017;0.889;0.962	B;B;P;D	0.63793	0.038;0.013;0.653;0.918	T	0.04930	-1.0917	10	0.66056	D	0.02	.	8.3924	0.32537	0.0:0.2352:0.0:0.7648	.	183;233;216;1587	B4DP05;F5H2C1;B4DN09;Q9NZ56	.;.;.;FMN2_HUMAN	V	1587;183;214;63	ENSP00000318884:L1587V;ENSP00000437918:L183V	ENSP00000318884:L1587V	L	+	1	2	FMN2	238564146	0.996000	0.38824	0.991000	0.47740	0.990000	0.78478	0.570000	0.23653	0.097000	0.17492	0.482000	0.46254	TTG		0.353	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		19	305	0	0	0	0.010504	0	19	305				
PLD5	200150	broad.mit.edu	37	1	242271010	242271010	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:242271010G>T	ENST00000536534.2	-	8	1443	c.1202C>A	c.(1201-1203)gCg>gAg	p.A401E	PLD5_ENST00000427495.1_Missense_Mutation_p.A339E|PLD5_ENST00000442594.2_Missense_Mutation_p.A309E			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	401						integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)	p.A309E(2)|p.A401E(2)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			AGTGCAAATCGCTTTAAGAGA	0.368																																							uc001hzn.1		NA																	4	Substitution - Missense(4)		lung(4)	ovary(6)	6						c.(1201-1203)GCG>GAG		RecName: Full=Inactive phospholipase D5;          Short=Inactive PLD 5; AltName: Full=Inactive choline phosphatase 5; AltName: Full=Inactive phosphatidylcholine-hydrolyzing phospholipase D5; AltName: Full=PLDc;							129.0	138.0	135.0					1																	242271010		2203	4300	6503	SO:0001583	missense	200150					integral to membrane	catalytic activity	g.chr1:242271010G>T	AK098092	CCDS1621.1, CCDS1621.2, CCDS55692.1	1q43	2008-02-05			ENSG00000180287	ENSG00000180287			26879	protein-coding gene	gene with protein product							Standard	NM_001195811		Approved	FLJ40773	uc001hzn.2	Q8N7P1	OTTHUMG00000039867	ENST00000536534.2:c.1202C>A	1.37:g.242271010G>T	ENSP00000440896:p.Ala401Glu					PLD5_uc001hzl.3_Missense_Mutation_p.A339E|PLD5_uc001hzm.3_Missense_Mutation_p.A191E|PLD5_uc001hzo.1_Missense_Mutation_p.A309E	p.A401E			Q8N7P1	PLD5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0329)		8	1329	-	Melanoma(84;0.242)		401					A1KXV0|B7Z324|Q494U9|Q8NB22	Missense_Mutation	SNP	ENST00000536534.2	37	c.1202C>A	CCDS1621.2	.	.	.	.	.	.	.	.	.	.	G	21.7	4.180855	0.78677	.	.	ENSG00000180287	ENST00000427495;ENST00000442594;ENST00000536534	T;T;T	0.45668	0.9;0.89;0.89	5.52	5.52	0.82312	Phospholipase D/viral envelope (1);	0.189310	0.46758	D	0.000276	T	0.48077	0.1480	L	0.45744	1.44	0.53688	D	0.999972	D;D;P	0.58620	0.979;0.983;0.943	P;P;P	0.53954	0.738;0.695;0.616	T	0.25152	-1.0140	10	0.11182	T	0.66	-8.3592	17.2062	0.86918	0.0:0.0:1.0:0.0	.	309;401;339	Q8N7P1-2;Q8N7P1;Q8N7P1-4	.;PLD5_HUMAN;.	E	339;309;401	ENSP00000401285:A339E;ENSP00000414188:A309E;ENSP00000440896:A401E	ENSP00000401285:A339E	A	-	2	0	PLD5	240337633	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	5.131000	0.64751	2.577000	0.86979	0.643000	0.83706	GCG		0.368	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397213.2	NM_152666		51	193	1	0	2.01807e-28	0.00361	2.48378e-28	51	193				
KIF26B	55083	broad.mit.edu	37	1	245530604	245530604	+	Missense_Mutation	SNP	C	C	T	rs375797576		TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:245530604C>T	ENST00000407071.2	+	3	1374	c.934C>T	c.(934-936)Cac>Tac	p.H312Y	KIF26B_ENST00000479506.1_3'UTR	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	312					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.H312Y(4)|p.H112Y(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CATCCAGGCTCACCAGTACCT	0.592																																							uc001ibf.1		NA																	6	Substitution - Missense(6)		lung(6)	ovary(3)	3						c.(934-936)CAC>TAC		kinesin family member 26B		C	TYR/HIS	1,4205		0,1,2102	22.0	29.0	27.0		934	5.8	1.0	1		27	0,8406		0,0,4203	no	missense	KIF26B	NM_018012.3	83	0,1,6305	TT,TC,CC		0.0,0.0238,0.0079	possibly-damaging	312/2109	245530604	1,12611	2103	4203	6306	SO:0001583	missense	55083				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:245530604C>T	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.934C>T	1.37:g.245530604C>T	ENSP00000385545:p.His312Tyr					KIF26B_uc010pyq.1_Missense_Mutation_p.H312Y|KIF26B_uc010pyr.1_Missense_Mutation_p.H112Y	p.H312Y	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)		3	1374	+	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		312					Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	37	c.934C>T	CCDS44342.1	.	.	.	.	.	.	.	.	.	.	C	19.82	3.897977	0.72639	2.38E-4	0.0	ENSG00000162849	ENST00000407071	T	0.79033	-1.23	5.75	5.75	0.90469	.	0.503050	0.20122	N	0.098800	D	0.84547	0.5496	L	0.60455	1.87	0.80722	D	1	D;D	0.65815	0.974;0.995	P;P	0.56088	0.643;0.791	D	0.85208	0.1019	10	0.72032	D	0.01	.	19.9598	0.97242	0.0:1.0:0.0:0.0	.	312;312	B4DF75;Q2KJY2	.;KI26B_HUMAN	Y	312	ENSP00000385545:H312Y	ENSP00000385545:H312Y	H	+	1	0	KIF26B	243597227	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.304000	0.78882	2.716000	0.92895	0.655000	0.94253	CAC		0.592	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		6	20	0	0	0	0.00308	0	6	20				
OR2W5	441932	broad.mit.edu	37	1	247655162	247655162	+	RNA	SNP	C	C	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:247655162C>A	ENST00000522351.1	+	0	793							A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W, member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P245T(2)		breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GCTCTTCTCACCTCACAGTGG	0.542																																							uc001icz.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)|skin(1)	3						c.(733-735)CCT>ACT		olfactory receptor, family 2, subfamily W,							140.0	125.0	130.0					1																	247655162		2203	4300	6503			441932				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247655162C>A			1q44	2013-03-27		2004-03-10	ENSG00000203664	ENSG00000203664		"""GPCR / Class A : Olfactory receptors"""	15424	other	unknown				OR2W5P		12213199	Standard	NM_001004698		Approved	OST722	uc001icz.2	A6NFC9	OTTHUMG00000040573		1.37:g.247655162C>A							p.P245T	NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		1	733	+	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	245					B9EH85	Missense_Mutation	SNP	ENST00000522351.1	37	c.733C>A																																																																																					0.542	OR2W5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000375789.1	NM_001004698		44	253	1	0	2.40228e-13	0.003214	2.79806e-13	44	253				
OR1C1	26188	broad.mit.edu	37	1	247920842	247920842	+	Silent	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:247920842G>T	ENST00000408896.2	-	1	1140	c.867C>A	c.(865-867)atC>atA	p.I289I		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	289					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I289I(2)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TTAGGGTATAGATGAAAGGAT	0.458																																							uc010pza.1		NA																	2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(865-867)ATC>ATA		olfactory receptor, family 1, subfamily C,							127.0	118.0	121.0					1																	247920842		1937	4152	6089	SO:0001819	synonymous_variant	26188				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247920842G>T	X89674	CCDS41481.1	1q44	2012-08-09			ENSG00000221888	ENSG00000221888		"""GPCR / Class A : Olfactory receptors"""	8182	protein-coding gene	gene with protein product						9119360	Standard	NM_012353		Approved	TPCR27, HSTPCR27	uc010pza.2	Q15619	OTTHUMG00000040198	ENST00000408896.2:c.867C>A	1.37:g.247920842G>T							p.I289I	NM_012353	NP_036485	Q15619	OR1C1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	867	-	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	289			Helical; Name=7; (Potential).		B9EIR9|Q5VVD2|Q6IF97|Q8NGZ1|Q96R83	Silent	SNP	ENST00000408896.2	37	c.867C>A	CCDS41481.1																																																																																				0.458	OR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096855.1			24	142	1	0	9.86323e-18	0.003954	1.18515e-17	24	142				
OR2L8	391190	broad.mit.edu	37	1	248112672	248112672	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:248112672G>T	ENST00000357191.3	+	1	513	c.513G>T	c.(511-513)agG>agT	p.R171S	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	171						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R171S(2)		endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			GCCGATCCAGGGCCATCAATC	0.483																																							uc001idt.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(511-513)AGG>AGT		olfactory receptor, family 2, subfamily L,							211.0	135.0	161.0					1																	248112672		2203	4300	6503	SO:0001583	missense	391190				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248112672G>T	BK004459	CCDS31101.1	1q44	2013-10-10	2013-10-10		ENSG00000196936	ENSG00000196936		"""GPCR / Class A : Olfactory receptors"""	15014	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily L, member 8"""				Standard	NM_001001963		Approved		uc001idt.1	Q8NGY9	OTTHUMG00000040196	ENST00000357191.3:c.513G>T	1.37:g.248112672G>T	ENSP00000349719:p.Arg171Ser					OR2L13_uc001ids.2_Intron	p.R171S	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0152)		1	513	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		171			Extracellular (Potential).		Q6IF03	Missense_Mutation	SNP	ENST00000357191.3	37	c.513G>T	CCDS31101.1	.	.	.	.	.	.	.	.	.	.	.	14.01	2.407427	0.42715	.	.	ENSG00000196936	ENST00000357191	T	0.00084	8.75	1.79	0.585	0.17428	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36338	U	0.002648	T	0.00300	0.0009	M	0.67569	2.06	0.09310	N	1	D	0.57257	0.979	P	0.59825	0.864	T	0.45454	-0.9260	10	0.87932	D	0	.	7.6358	0.28266	0.0:0.0:0.6305:0.3695	.	171	Q8NGY9	OR2L8_HUMAN	S	171	ENSP00000349719:R171S	ENSP00000349719:R171S	R	+	3	2	OR2L8	246179295	0.000000	0.05858	0.977000	0.42913	0.923000	0.55619	-0.586000	0.05787	1.005000	0.39183	0.479000	0.44913	AGG		0.483	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096853.2			56	230	1	0	2.27459e-33	0.00361	2.84558e-33	56	230				
OR2M4	26245	broad.mit.edu	37	1	248403046	248403046	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:248403046G>C	ENST00000306687.1	+	1	816	c.816G>C	c.(814-816)aaG>aaC	p.K272N		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	272					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K272N(2)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|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;0.0245)			ACCAGGACAAGATGGTGTCGG	0.502																																							uc010pzh.1		NA																	2	Substitution - Missense(2)		lung(2)	breast(2)	2						c.(814-816)AAG>AAC		olfactory receptor, family 2, subfamily M,							128.0	110.0	116.0					1																	248403046		2203	4300	6503	SO:0001583	missense	26245				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248403046G>C	X64992	CCDS31108.1	1q44	2012-08-09			ENSG00000171180	ENSG00000171180		"""GPCR / Class A : Olfactory receptors"""	8270	protein-coding gene	gene with protein product						1370859, 9119360	Standard	NM_017504		Approved	HTPCRX18, TPCR100, HSHTPCRX18, OST710	uc010pzh.2	Q96R27	OTTHUMG00000040456	ENST00000306687.1:c.816G>C	1.37:g.248403046G>C	ENSP00000306688:p.Lys272Asn						p.K272N	NM_017504	NP_059974	Q96R27	OR2M4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	816	+	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		272			Extracellular (Potential).		Q15611|Q8NG82	Missense_Mutation	SNP	ENST00000306687.1	37	c.816G>C	CCDS31108.1	.	.	.	.	.	.	.	.	.	.	g	13.91	2.379018	0.42207	.	.	ENSG00000171180	ENST00000306687	T	0.00207	8.55	3.34	3.34	0.38264	GPCR, rhodopsin-like superfamily (1);	0.155598	0.29362	N	0.012363	T	0.00271	0.0008	L	0.47078	1.49	0.24253	N	0.995314	D	0.57571	0.98	P	0.55260	0.772	T	0.55854	-0.8075	10	0.46703	T	0.11	.	8.0969	0.30833	0.12:0.0:0.88:0.0	.	272	Q96R27	OR2M4_HUMAN	N	272	ENSP00000306688:K272N	ENSP00000306688:K272N	K	+	3	2	OR2M4	246469669	0.000000	0.05858	0.999000	0.59377	0.266000	0.26442	-1.098000	0.03346	1.840000	0.53500	0.543000	0.68304	AAG		0.502	OR2M4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097352.1	NM_017504		13	117	0	0	0	0.001855	0	13	117				
KIN	22944	broad.mit.edu	37	10	7820880	7820880	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr10:7820880T>A	ENST00000379562.4	-	5	526	c.479A>T	c.(478-480)aAg>aTg	p.K160M	KIN_ENST00000535925.1_Missense_Mutation_p.K160M|KIN_ENST00000543003.1_Missense_Mutation_p.K54M	NM_012311.3	NP_036443.1			Kin17 DNA and RNA binding protein									p.K160M(2)		endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						AAGGTCCTGCTTTTTCTTTTT	0.453																																							uc001ijt.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)|skin(1)	3						c.(478-480)AAG>ATG		HsKin17 protein							218.0	219.0	218.0					10																	7820880		2203	4300	6503	SO:0001583	missense	22944				DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	double-stranded DNA binding|RNA binding|zinc ion binding	g.chr10:7820880T>A	AJ005273	CCDS7080.1	10p15-p14	2014-07-15	2014-07-15		ENSG00000151657	ENSG00000151657			6327	protein-coding gene	gene with protein product		601720	"""antigenic determinant of recA protein (mouse) homolog"", ""KIN, antigenic determinant of recA protein homolog (mouse)"""			1923796, 24140279	Standard	NM_012311		Approved	KIN17, Rts2	uc001ijt.3	O60870	OTTHUMG00000017634	ENST00000379562.4:c.479A>T	10.37:g.7820880T>A	ENSP00000368881:p.Lys160Met					KIN_uc010qaz.1_RNA|KIN_uc009xip.2_Missense_Mutation_p.K160M|KIN_uc010qba.1_Missense_Mutation_p.K54M	p.K160M	NM_012311	NP_036443	O60870	KIN17_HUMAN			5	527	-			160			Potential.			Missense_Mutation	SNP	ENST00000379562.4	37	c.479A>T	CCDS7080.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.670311	0.88348	.	.	ENSG00000151657	ENST00000535925;ENST00000379562;ENST00000543003	.	.	.	5.71	5.71	0.89125	DNA/RNA-binding protein Kin17, conserved domain (1);	0.000000	0.85682	D	0.000000	T	0.80144	0.4569	M	0.80332	2.49	0.80722	D	1	D;D;D	0.89917	1.0;0.995;0.995	D;D;D	0.85130	0.988;0.997;0.997	T	0.81387	-0.0956	9	0.48119	T	0.1	-22.6167	15.9958	0.80243	0.0:0.0:0.0:1.0	.	54;160;160	F5GXB3;B4DX32;O60870	.;.;KIN17_HUMAN	M	160;160;54	.	ENSP00000368881:K160M	K	-	2	0	KIN	7860886	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.991000	0.88244	2.188000	0.69820	0.533000	0.62120	AAG		0.453	KIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046683.2	NM_012311		35	274	0	0	0	0.002445	0	35	274				
SLC39A12	221074	broad.mit.edu	37	10	18292133	18292133	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr10:18292133C>G	ENST00000377369.2	+	12	2066	c.1793C>G	c.(1792-1794)tCt>tGt	p.S598C	SLC39A12-AS1_ENST00000445287.1_RNA|SLC39A12_ENST00000377374.4_Missense_Mutation_p.S561C|SLC39A12_ENST00000377371.3_Missense_Mutation_p.S597C|SLC39A12-AS1_ENST00000439319.1_RNA|SLC39A12_ENST00000539911.1_Missense_Mutation_p.S464C	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	598					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)	p.S561C(2)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						TCTGGACTTTCTATGAAGACT	0.408																																							uc001ipo.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)	2						c.(1792-1794)TCT>TGT		solute carrier family 39 (zinc transporter),							188.0	184.0	185.0					10																	18292133		2203	4300	6503	SO:0001583	missense	221074				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr10:18292133C>G		CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"""Solute carriers"""	20860	protein-coding gene	gene with protein product		608734	"""solute carrier family 39 (metal ion transporter), member 12"""			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.1793C>G	10.37:g.18292133C>G	ENSP00000366586:p.Ser598Cys					SLC39A12_uc001ipn.2_Missense_Mutation_p.S561C|SLC39A12_uc001ipp.2_Missense_Mutation_p.S597C|SLC39A12_uc010qck.1_Missense_Mutation_p.S464C|uc001ipq.1_RNA	p.S598C	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN			12	2066	+			598			Cytoplasmic (Potential).		B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Missense_Mutation	SNP	ENST00000377369.2	37	c.1793C>G	CCDS44362.1	.	.	.	.	.	.	.	.	.	.	C	16.67	3.188597	0.57909	.	.	ENSG00000148482	ENST00000377369;ENST00000377374;ENST00000377371;ENST00000539911;ENST00000425219	T;T;T;T	0.55234	0.53;0.53;0.53;0.53	5.48	4.56	0.56223	.	0.365106	0.32244	N	0.006365	T	0.75034	0.3795	M	0.90542	3.125	0.23997	N	0.996229	D;P;D	0.71674	0.996;0.661;0.998	D;P;D	0.65684	0.937;0.497;0.922	T	0.69691	-0.5077	10	0.87932	D	0	-4.932	14.0261	0.64586	0.0:0.9271:0.0:0.0729	.	597;598;561	Q504Y0-4;Q504Y0;Q504Y0-3	.;S39AC_HUMAN;.	C	598;561;597;464;518	ENSP00000366586:S598C;ENSP00000366591:S561C;ENSP00000366588:S597C;ENSP00000440445:S464C	ENSP00000366586:S598C	S	+	2	0	SLC39A12	18332139	0.940000	0.31905	0.557000	0.28306	0.678000	0.39670	4.850000	0.62889	2.724000	0.93272	0.655000	0.94253	TCT		0.408	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_152725		20	181	0	0	0	0.010504	0	20	181				
DNAJC1	64215	broad.mit.edu	37	10	22048380	22048380	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr10:22048380C>T	ENST00000376980.3	-	11	1605	c.1315G>A	c.(1315-1317)Gat>Aat	p.D439N	DNAJC1_ENST00000483085.1_5'Flank	NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	439					negative regulation of proteolysis (GO:0045861)|positive regulation of ATPase activity (GO:0032781)|protein folding (GO:0006457)|regulation of protein secretion (GO:0050708)|regulation of translation (GO:0006417)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.D439N(2)		cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				GGCCGGGCATCAGTGGCCCCG	0.662																																							uc001irc.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(1)	1						c.(1315-1317)GAT>AAT		DnaJ (Hsp40) homolog, subfamily C, member 1							49.0	48.0	48.0					10																	22048380		2203	4300	6503	SO:0001583	missense	64215				negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding	g.chr10:22048380C>T	AK026062	CCDS7136.1	10p11.23	2011-09-02			ENSG00000136770	ENSG00000136770		"""Heat shock proteins / DNAJ (HSP40)"""	20090	protein-coding gene	gene with protein product		611207					Standard	NM_022365		Approved	DNAJL1, ERdj1, MTJ1	uc001irc.3	Q96KC8	OTTHUMG00000017800	ENST00000376980.3:c.1315G>A	10.37:g.22048380C>T	ENSP00000366179:p.Asp439Asn					DNAJC1_uc001ird.2_Missense_Mutation_p.D325N	p.D439N	NM_022365	NP_071760	Q96KC8	DNJC1_HUMAN			11	1602	-		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)	439			Cytoplasmic (By similarity).		B0YIZ8|Q5VX89|Q9H6B8	Missense_Mutation	SNP	ENST00000376980.3	37	c.1315G>A	CCDS7136.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.035216	0.54896	.	.	ENSG00000136770	ENST00000376980	T	0.63255	-0.03	5.58	4.67	0.58626	.	0.767983	0.11907	N	0.518070	T	0.41627	0.1167	N	0.08118	0	0.80722	D	1	B;B	0.21520	0.057;0.057	B;B	0.18871	0.014;0.023	T	0.15578	-1.0432	10	0.10636	T	0.68	-3.8112	14.3054	0.66382	0.0:0.9282:0.0:0.0718	.	160;439	Q96NY3;Q96KC8	.;DNJC1_HUMAN	N	439	ENSP00000366179:D439N	ENSP00000366179:D439N	D	-	1	0	DNAJC1	22088386	0.784000	0.28713	0.017000	0.16124	0.002000	0.02628	4.071000	0.57556	1.357000	0.45904	0.491000	0.48974	GAT		0.662	DNAJC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047149.1	NM_022365		6	47	0	0	0	0.001984	0	6	47				
UNC5B	219699	broad.mit.edu	37	10	73053578	73053578	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr10:73053578C>G	ENST00000335350.6	+	13	2479	c.2063C>G	c.(2062-2064)tCc>tGc	p.S688C	UNC5B_ENST00000373192.4_Missense_Mutation_p.S677C	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	688	ZU5. {ECO:0000255|PROSITE- ProRule:PRU00485}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)		p.S688C(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						GAGTCCTATTCCCGCTCAGCA	0.657																																							uc001jro.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(2062-2064)TCC>TGC		unc-5 homolog B precursor							48.0	40.0	43.0					10																	73053578		2203	4300	6503	SO:0001583	missense	219699				apoptosis|axon guidance|regulation of apoptosis	integral to membrane		g.chr10:73053578C>G	AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731		"""Immunoglobulin superfamily / I-set domain containing"""	12568	protein-coding gene	gene with protein product		607870	"""unc5 (C.elegans homolog) b"""				Standard	NM_170744		Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.2063C>G	10.37:g.73053578C>G	ENSP00000334329:p.Ser688Cys					UNC5B_uc001jrp.2_Missense_Mutation_p.S677C	p.S688C	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN			13	2508	+			688			Cytoplasmic (Potential).		Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Missense_Mutation	SNP	ENST00000335350.6	37	c.2063C>G	CCDS7309.1	.	.	.	.	.	.	.	.	.	.	C	15.30	2.793219	0.50102	.	.	ENSG00000107731	ENST00000335350;ENST00000373192	T;T	0.52754	0.71;0.65	4.76	4.76	0.60689	.	0.219310	0.40064	N	0.001197	T	0.61974	0.2390	L	0.46741	1.465	0.51767	D	0.999938	D;D	0.76494	0.999;0.999	D;P	0.65573	0.936;0.865	T	0.65693	-0.6106	10	0.66056	D	0.02	-33.3194	17.7805	0.88522	0.0:1.0:0.0:0.0	.	677;688	Q8IZJ1-2;Q8IZJ1	.;UNC5B_HUMAN	C	688;677	ENSP00000334329:S688C;ENSP00000362288:S677C	ENSP00000334329:S688C	S	+	2	0	UNC5B	72723584	1.000000	0.71417	0.991000	0.47740	0.971000	0.66376	5.799000	0.69101	2.208000	0.71279	0.462000	0.41574	TCC		0.657	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048541.1	NM_170744		6	21	0	0	0	0.001984	0	6	21				
NRG3	10718	broad.mit.edu	37	10	83635863	83635863	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr10:83635863C>T	ENST00000404547.1	+	1	767	c.767C>T	c.(766-768)tCt>tTt	p.S256F	NRG3_ENST00000372142.2_5'Flank|NRG3_ENST00000556918.1_5'Flank|NRG3_ENST00000372141.2_Missense_Mutation_p.S256F|NRG3_ENST00000404576.2_5'Flank			P56975	NRG3_HUMAN	neuregulin 3	256	Poly-Ser.|Ser/Thr-rich.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)	p.S256F(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		tcttcttcctcttcttcctcc	0.512																																							uc001kco.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(5)|breast(1)	6						c.(766-768)TCT>TTT		neuregulin 3 isoform 1							66.0	43.0	51.0					10																	83635863		2203	4300	6503	SO:0001583	missense	10718				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr10:83635863C>T	AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.767C>T	10.37:g.83635863C>T	ENSP00000384796:p.Ser256Phe					NRG3_uc010qlz.1_Missense_Mutation_p.S256F|NRG3_uc001kcp.2_5'Flank|NRG3_uc001kcq.2_5'Flank	p.S256F	NM_001010848	NP_001010848	P56975	NRG3_HUMAN		GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)	1	794	+			256			Ser/Thr-rich.|Extracellular (Potential).|Poly-Ser.		A4D7U1|Q0PEH2|Q5VYH3	Missense_Mutation	SNP	ENST00000404547.1	37	c.767C>T	CCDS31233.1	.	.	.	.	.	.	.	.	.	.	C	9.859	1.195864	0.22037	.	.	ENSG00000185737	ENST00000372141;ENST00000404547;ENST00000537287	T;T	0.33654	1.4;1.41	3.92	3.92	0.45320	.	0.209847	0.24262	N	0.040068	T	0.20088	0.0483	N	0.08118	0	0.22975	N	0.998486	P;P	0.49447	0.924;0.924	B;B	0.41813	0.367;0.367	T	0.08680	-1.0710	10	0.46703	T	0.11	-9.0743	11.6704	0.51396	0.0:1.0:0.0:0.0	.	256;256	B9EGV5;P56975-4	.;.	F	256	ENSP00000361214:S256F;ENSP00000384796:S256F	ENSP00000361214:S256F	S	+	2	0	NRG3	83625843	0.399000	0.25287	0.450000	0.26969	0.139000	0.21198	2.191000	0.42640	2.203000	0.70933	0.650000	0.86243	TCT		0.512	NRG3-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412262.1	XM_166086		4	12	0	0	0	0.009096	0	4	12				
ADD3	120	broad.mit.edu	37	10	111878416	111878416	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr10:111878416C>T	ENST00000356080.4	+	6	1006	c.639C>T	c.(637-639)ttC>ttT	p.F213F	ADD3_ENST00000277900.8_Silent_p.F213F|ADD3_ENST00000360162.3_Silent_p.F213F	NM_016824.3	NP_058432.1	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	213						cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.F213F(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		ATACAGGATTCAGTCCCCATG	0.393																																							uc001kyt.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)|skin(2)|large_intestine(1)	5						c.(637-639)TTC>TTT		adducin 3 (gamma) isoform a							128.0	113.0	118.0					10																	111878416		2203	4300	6503	SO:0001819	synonymous_variant	120					cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton	g.chr10:111878416C>T	U37122	CCDS7561.1, CCDS7562.1	10q25.2	2005-11-08			ENSG00000148700	ENSG00000148700			245	protein-coding gene	gene with protein product		601568		ADDL		8893809	Standard	XM_005269529		Approved		uc001kyv.3	Q9UEY8	OTTHUMG00000019032	ENST00000356080.4:c.639C>T	10.37:g.111878416C>T						ADD3_uc001kys.3_Silent_p.F213F|ADD3_uc001kyu.2_Silent_p.F213F|ADD3_uc001kyv.2_Silent_p.F213F|ADD3_uc001kyw.2_Silent_p.F213F	p.F213F	NM_016824	NP_058432	Q9UEY8	ADDG_HUMAN		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)	7	953	+		Breast(234;0.052)|Lung NSC(174;0.223)	213					D3DRA8|O43243|Q5VU09|Q92773|Q9UEY7	Silent	SNP	ENST00000356080.4	37	c.639C>T	CCDS7561.1																																																																																				0.393	ADD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050289.1	NM_019903		20	64	0	0	0	0.010504	0	20	64				
TACC2	10579	broad.mit.edu	37	10	123970013	123970013	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr10:123970013G>C	ENST00000369005.1	+	9	6413	c.6073G>C	c.(6073-6075)Gat>Cat	p.D2025H	TACC2_ENST00000369004.3_Missense_Mutation_p.D103H|TACC2_ENST00000260733.3_Missense_Mutation_p.D103H|TACC2_ENST00000453444.2_Missense_Mutation_p.D2029H|TACC2_ENST00000515273.1_Missense_Mutation_p.D2029H|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000358010.1_Missense_Mutation_p.D171H|TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000334433.3_Missense_Mutation_p.D2025H|TACC2_ENST00000493951.1_3'UTR|TACC2_ENST00000368999.1_Missense_Mutation_p.D103H|TACC2_ENST00000513429.1_Missense_Mutation_p.D171H|TACC2_ENST00000360561.3_Missense_Mutation_p.D103H|TACC2_ENST00000515603.1_Missense_Mutation_p.D1980H	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2025					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)	p.D2025H(2)|p.D2025N(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TGCCGTCTTCGATGAAGACAA	0.552																																							uc001lfv.2		NA																	3	Substitution - Missense(3)		lung(3)	ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10						c.(6073-6075)GAT>CAT		transforming, acidic coiled-coil containing							103.0	89.0	94.0					10																	123970013		2203	4300	6503	SO:0001583	missense	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123970013G>C	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.6073G>C	10.37:g.123970013G>C	ENSP00000358001:p.Asp2025His					TACC2_uc001lfw.2_Missense_Mutation_p.D171H|TACC2_uc009xzx.2_Missense_Mutation_p.D1980H|TACC2_uc010qtv.1_Missense_Mutation_p.D2029H|TACC2_uc001lfx.2_5'UTR|TACC2_uc001lfy.2_5'UTR|TACC2_uc001lfz.2_Missense_Mutation_p.D103H|TACC2_uc001lga.2_Missense_Mutation_p.D103H|TACC2_uc009xzy.2_Missense_Mutation_p.D103H|TACC2_uc001lgb.2_Missense_Mutation_p.D60H|TACC2_uc010qtw.1_Missense_Mutation_p.D120H	p.D2025H	NM_206862	NP_996744	O95359	TACC2_HUMAN			9	6433	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	2025					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	c.6073G>C	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.700191	0.88924	.	.	ENSG00000138162	ENST00000369005;ENST00000513429;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000358010;ENST00000453444;ENST00000340076;ENST00000360561;ENST00000368999;ENST00000369004;ENST00000260733;ENST00000514539	T;T;T;T;T;T;T;T;T;T;T;T	0.16743	2.95;2.54;3.01;2.96;2.95;2.54;3.01;2.34;2.68;2.64;2.66;2.32	5.64	5.64	0.86602	.	0.000000	0.38164	N	0.001786	T	0.44953	0.1318	M	0.69823	2.125	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.85130	0.976;0.995;0.948;0.995;0.995;0.976;0.976;0.976;0.997	T	0.31586	-0.9938	10	0.66056	D	0.02	-7.4072	19.7154	0.96115	0.0:0.0:1.0:0.0	.	120;2029;103;1980;2029;103;103;171;2025	E9PGB3;E9PBC6;D6RAA5;E7EMZ9;B7ZMJ9;O95359-6;O95359-1;O95359-5;O95359	.;.;.;.;.;.;.;.;TACC2_HUMAN	H	2025;171;2029;1980;2025;171;2029;2015;103;103;103;103;120	ENSP00000358001:D2025H;ENSP00000425062:D171H;ENSP00000424467:D2029H;ENSP00000427618:D1980H;ENSP00000334280:D2025H;ENSP00000350701:D171H;ENSP00000395048:D2029H;ENSP00000353763:D103H;ENSP00000357995:D103H;ENSP00000422815:D103H;ENSP00000260733:D103H;ENSP00000420967:D120H	ENSP00000260733:D103H	D	+	1	0	TACC2	123960003	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.465000	0.80898	2.664000	0.90586	0.655000	0.94253	GAT		0.552	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			13	24	0	0	0	0.001368	0	13	24				
KNDC1	85442	broad.mit.edu	37	10	135032354	135032354	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr10:135032354C>G	ENST00000304613.3	+	27	4718	c.4697C>G	c.(4696-4698)tCc>tGc	p.S1566C	KNDC1_ENST00000368572.2_Missense_Mutation_p.S1568C			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1566	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.S1566C(2)		NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		AACTTGCTGTCCAAATTTTTG	0.463																																							uc001llz.1		NA																	2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(4696-4698)TCC>TGC		kinase non-catalytic C-lobe domain (KIND)							185.0	214.0	204.0					10																	135032354		2203	4300	6503	SO:0001583	missense	85442				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:135032354C>G	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.4697C>G	10.37:g.135032354C>G	ENSP00000304437:p.Ser1566Cys						p.S1566C	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	27	4698	+		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)	1566			Ras-GEF.		B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	37	c.4697C>G	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.981801	0.74474	.	.	ENSG00000171798	ENST00000304613;ENST00000368572	T;T	0.33438	1.41;1.41	4.12	4.12	0.48240	Guanine-nucleotide dissociation stimulator CDC25 (3);Ras guanine nucleotide exchange factor, domain (1);	0.362530	0.25720	N	0.028750	T	0.41858	0.1177	N	0.25647	0.755	0.54753	D	0.999984	D	0.89917	1.0	D	0.75484	0.986	T	0.43572	-0.9383	10	0.87932	D	0	-40.3251	14.2262	0.65860	0.0:1.0:0.0:0.0	.	1566	Q76NI1	VKIND_HUMAN	C	1566;1568	ENSP00000304437:S1566C;ENSP00000357561:S1568C	ENSP00000304437:S1566C	S	+	2	0	KNDC1	134882344	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	7.244000	0.78228	2.005000	0.58758	0.561000	0.74099	TCC		0.463	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		94	277	0	0	0	0.00361	0	94	277				
SLC25A22	79751	broad.mit.edu	37	11	800571	800571	+	5'Flank	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr11:800571G>A	ENST00000531214.1	-	0	0				PIDD_ENST00000534649.1_5'Flank|PIDD_ENST00000347755.5_Silent_p.A671A|PIDD_ENST00000411829.2_Silent_p.A671A	NM_001191060.1	NP_001177989.1	Q9H936	GHC1_HUMAN	solute carrier family 25 (mitochondrial carrier: glutamate), member 22						L-glutamate transport (GO:0015813)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)	p.A671A(1)		endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CGCGCTCGAAGGCCGCAAAGA	0.677																																					Colon(93;848 1468 3270 23355 49636)		uc001lro.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(2011-2013)GCC>GCT		leucine rich repeat and death domain containing							66.0	54.0	58.0					11																	800571		2202	4297	6499	SO:0001631	upstream_gene_variant	55367				apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding	g.chr11:800571G>A	AJ428202	CCDS7715.1	11p15.5	2013-05-22			ENSG00000177542	ENSG00000177542		"""Solute carriers"""	19954	protein-coding gene	gene with protein product		609302				11897791	Standard	NM_024698		Approved	GC1, FLJ13044, NET44, EIEE3	uc001lrj.3	Q9H936	OTTHUMG00000133310		11.37:g.800571G>A	Exception_encountered					SLC25A22_uc009yci.2_5'Flank|SLC25A22_uc001lrj.2_5'Flank|LRDD_uc009yck.1_RNA|LRDD_uc001lrk.1_Silent_p.A671A|LRDD_uc001lrl.1_Silent_p.A514A|LRDD_uc001lrm.1_Silent_p.A358A|LRDD_uc001lrn.1_Silent_p.A514A|LRDD_uc001lrp.1_Silent_p.A333A	p.A671A	NM_145886	NP_665893	Q9HB75	PIDD_HUMAN		all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	12	2155	-		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)	671					A8K366|C9J1H6|E9PJD3|E9PKB2|E9PL68|E9PN26|E9PNQ3|E9PP01|E9PR97|Q8TBU8	Silent	SNP	ENST00000531214.1	37	c.2013C>T	CCDS7715.1																																																																																				0.677	SLC25A22-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384124.1			8	66	0	0	0	0.006214	0	8	66				
IGSF22	283284	broad.mit.edu	37	11	18735942	18735942	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr11:18735942C>T	ENST00000513874.1	-	13	1819	c.1680G>A	c.(1678-1680)caG>caA	p.Q560Q	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	560								p.Q560Q(4)		NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						GCTTCACAATCTGCATGCCTG	0.597																																							uc009yht.2		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(4)|large_intestine(2)|kidney(1)	7						c.(1678-1680)CAG>CAA		immunoglobulin superfamily, member 22							101.0	107.0	105.0					11																	18735942		2078	4200	6278	SO:0001819	synonymous_variant	283284							g.chr11:18735942C>T	AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.1680G>A	11.37:g.18735942C>T						IGSF22_uc001mpa.2_RNA	p.Q560Q	NM_173588	NP_775859	Q8N9C0	IGS22_HUMAN			13	1870	-			560					A6NNA0|D6RGV7	Silent	SNP	ENST00000513874.1	37	c.1680G>A	CCDS41625.2																																																																																				0.597	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	NM_173588		23	138	0	0	0	0.004656	0	23	138				
LGR4	55366	broad.mit.edu	37	11	27389919	27389919	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr11:27389919G>A	ENST00000379214.4	-	18	2794	c.2351C>T	c.(2350-2352)tCt>tTt	p.S784F	LGR4_ENST00000389858.4_Missense_Mutation_p.S760F	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	784					bone mineralization (GO:0030282)|bone remodeling (GO:0046849)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cell differentiation involved in metanephros development (GO:0072202)|epithelial cell proliferation (GO:0050673)|innate immune response (GO:0045087)|male genitalia development (GO:0030539)|metanephric glomerulus development (GO:0072224)|metanephric nephron tubule morphogenesis (GO:0072282)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast differentiation (GO:0001649)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)	p.S784F(2)		NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						CAGAGTAACAGACTTCATTAT	0.403																																							uc001mrj.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(2350-2352)TCT>TTT		leucine-rich repeat-containing G protein-coupled							91.0	94.0	93.0					11																	27389919		2202	4299	6501	SO:0001583	missense	55366					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr11:27389919G>A	AF257182	CCDS31449.1	11p14-p13	2012-08-21	2011-01-25	2004-11-12	ENSG00000205213	ENSG00000205213		"""GPCR / Class A : Orphans"""	13299	protein-coding gene	gene with protein product		606666	"""G protein-coupled receptor 48"", ""leucine-rich repeat-containing G protein-coupled receptor 4"""	GPR48		10894923	Standard	NM_018490		Approved		uc001mrj.4	Q9BXB1	OTTHUMG00000133508	ENST00000379214.4:c.2351C>T	11.37:g.27389919G>A	ENSP00000368516:p.Ser784Phe					LGR4_uc001mrk.3_Missense_Mutation_p.S760F	p.S784F	NM_018490	NP_060960	Q9BXB1	LGR4_HUMAN			18	2836	-			784			Helical; Name=7; (Potential).		A6NCH3|G5E9B3|Q8N537|Q9NYD1	Missense_Mutation	SNP	ENST00000379214.4	37	c.2351C>T	CCDS31449.1	.	.	.	.	.	.	.	.	.	.	G	16.51	3.144585	0.57044	.	.	ENSG00000205213	ENST00000379214;ENST00000389858	T;T	0.36699	1.3;1.24	5.61	5.61	0.85477	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.51702	0.1690	L	0.33189	0.99	0.80722	D	1	P;D	0.76494	0.663;0.999	B;D	0.75020	0.261;0.985	T	0.49818	-0.8899	10	0.54805	T	0.06	.	19.6378	0.95744	0.0:0.0:1.0:0.0	.	760;784	G5E9B3;Q9BXB1	.;LGR4_HUMAN	F	784;760	ENSP00000368516:S784F;ENSP00000374508:S760F	ENSP00000368516:S784F	S	-	2	0	LGR4	27346495	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.827000	0.99397	2.663000	0.90544	0.555000	0.69702	TCT		0.403	LGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257467.1	NM_018490		15	112	0	0	0	0.003163	0	15	112				
CD59	966	broad.mit.edu	37	11	33743968	33743968	+	Silent	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr11:33743968G>C	ENST00000395850.3	-	2	99	c.24C>G	c.(22-24)gtC>gtG	p.V8V	CD59_ENST00000437761.2_Silent_p.V8V|CD59_ENST00000528700.1_Silent_p.V8V|CD59_ENST00000415002.2_Silent_p.V8V|CD59_ENST00000445143.2_Silent_p.V8V|CD59_ENST00000527577.1_Silent_p.V8V|CD59_ENST00000534312.1_Silent_p.V8V|CD59_ENST00000351554.3_Silent_p.V8V|CD59_ENST00000426650.2_Silent_p.V8V|CD59_ENST00000533403.1_Silent_p.V8V	NM_000611.5|NM_001127225.1|NM_001127226.1|NM_001127227.1|NM_203329.2|NM_203330.2|NM_203331.2	NP_000602.1|NP_001120697.1|NP_001120698.1|NP_001120699.1|NP_976074.1|NP_976075.1|NP_976076.1	P13987	CD59_HUMAN	CD59 molecule, complement regulatory protein	8					blood coagulation (GO:0007596)|cell activation (GO:0001775)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|negative regulation of activation of membrane attack complex (GO:0001971)|negative regulation of apoptotic process (GO:0043066)|positive regulation of T cell proliferation (GO:0042102)|regulation of complement activation (GO:0030449)	anchored component of external side of plasma membrane (GO:0031362)|cell surface (GO:0009986)|compact myelin (GO:0043218)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	complement binding (GO:0001848)	p.V8V(2)		endometrium(1)|lung(2)	3						GCCCGAACAGGACAGACCCTC	0.537																																							uc001mus.3		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(22-24)GTC>GTG		CD59 antigen preproprotein							171.0	134.0	146.0					11																	33743968		2202	4298	6500	SO:0001819	synonymous_variant	966				blood coagulation|cell surface receptor linked signaling pathway	anchored to external side of plasma membrane|extracellular region|membrane fraction		g.chr11:33743968G>C		CCDS7886.1	11p13	2014-09-17	2006-03-28			ENSG00000085063		"""CD molecules"", ""Complement system"""	1689	protein-coding gene	gene with protein product		107271	"""CD59 antigen p18-20 (antigen identified by monoclonal antibodies 16.3A5, EJ16, EJ30, EL32 and G344)"", ""CD59 antigen, complement regulatory protein"""	MIC11, MIN1, MSK21, MIN2, MIN3		7691713	Standard	NM_001127223		Approved	16.3A5, EJ16, EJ30, EL32, G344, p18-20	uc001mus.4	P13987		ENST00000395850.3:c.24C>G	11.37:g.33743968G>C						CD59_uc009yjx.2_Silent_p.V8V|CD59_uc009yjy.2_Silent_p.V8V|CD59_uc009yjz.2_Silent_p.V8V|CD59_uc001mut.3_Silent_p.V8V|CD59_uc009yka.2_Silent_p.V8V|CD59_uc001muu.3_Silent_p.V8V|CD59_uc001muv.3_Silent_p.V8V|CD59_uc001mux.3_Silent_p.V8V	p.V8V	NM_001127223	NP_001120695	P13987	CD59_HUMAN			1	306	-			8						Silent	SNP	ENST00000395850.3	37	c.24C>G	CCDS7886.1																																																																																				0.537	CD59-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000388809.1	NM_203329		5	74	0	0	0	0.001168	0	5	74				
LRRC4C	57689	broad.mit.edu	37	11	40137225	40137225	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr11:40137225C>A	ENST00000278198.2	-	2	2581	c.618G>T	c.(616-618)atG>atT	p.M206I	LRRC4C_ENST00000528697.1_Missense_Mutation_p.M206I|LRRC4C_ENST00000530763.1_Missense_Mutation_p.M206I|LRRC4C_ENST00000527150.1_Missense_Mutation_p.M206I			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	206					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)		p.M206I(2)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GAAGGTTGCACATGGCAAGGT	0.463																																							uc001mxa.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(3)|central_nervous_system(1)	8						c.(616-618)ATG>ATT		netrin-G1 ligand precursor							94.0	91.0	92.0					11																	40137225		2203	4300	6503	SO:0001583	missense	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40137225C>A	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.618G>T	11.37:g.40137225C>A	ENSP00000278198:p.Met206Ile					LRRC4C_uc001mxc.1_Missense_Mutation_p.M202I|LRRC4C_uc001mxd.1_Missense_Mutation_p.M202I|LRRC4C_uc001mxb.1_Missense_Mutation_p.M202I	p.M206I	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN			2	2582	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	206			LRR 6.		A8K0T1|Q7L0N3	Missense_Mutation	SNP	ENST00000278198.2	37	c.618G>T	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	C	18.44	3.624665	0.66901	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	T;T;T;T	0.04317	3.65;3.65;3.65;3.65	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.07052	0.0179	N	0.12182	0.205	0.80722	D	1	D	0.54207	0.965	P	0.53102	0.718	T	0.56860	-0.7909	10	0.22109	T	0.4	.	18.6316	0.91361	0.0:1.0:0.0:0.0	.	206	Q9HCJ2	LRC4C_HUMAN	I	206	ENSP00000278198:M206I;ENSP00000436976:M206I;ENSP00000437132:M206I;ENSP00000434761:M206I	ENSP00000278198:M206I	M	-	3	0	LRRC4C	40093801	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.644000	0.89710	0.650000	0.86243	ATG		0.463	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		19	140	1	0	8.10497e-08	0.010504	9.02532e-08	19	140				
SLC22A8	9376	broad.mit.edu	37	11	62761244	62761244	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr11:62761244G>C	ENST00000336232.2	-	9	1458	c.1323C>G	c.(1321-1323)atC>atG	p.I441M	SLC22A8_ENST00000430500.2_Missense_Mutation_p.I441M|SLC22A8_ENST00000542795.1_5'Flank|SLC22A8_ENST00000535878.1_Missense_Mutation_p.I318M|SLC22A8_ENST00000311438.8_Missense_Mutation_p.I441M|SLC22A8_ENST00000545207.1_Missense_Mutation_p.I350M	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	441					glutathione transport (GO:0034635)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|quaternary ammonium group transmembrane transporter activity (GO:0015651)	p.I441M(2)		endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Aspartame(DB00168)|Baclofen(DB00181)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Cilastatin(DB01597)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Estradiol(DB00783)|Famotidine(DB00927)|Furosemide(DB00695)|Ganciclovir(DB01004)|Guanidine(DB00536)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|L-Carnitine(DB00583)|Liothyronine(DB00279)|Liotrix(DB01583)|Melatonin(DB01065)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Minocycline(DB01017)|Novobiocin(DB01051)|Oseltamivir(DB00198)|Ouabain(DB01092)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Ranitidine(DB00863)|Salicylic acid(DB00936)|Saxagliptin(DB06335)|Succinic acid(DB00139)|Tenofovir(DB00300)|Tenoxicam(DB00469)|Testosterone(DB00624)|Tetracycline(DB00759)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Zidovudine(DB00495)	GCACCTACCTGATGACTGTGG	0.562																																							uc001nwo.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)	3						c.(1321-1323)ATC>ATG		solute carrier family 22 member 8							77.0	68.0	71.0					11																	62761244		2201	4298	6499	SO:0001583	missense	9376				response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity	g.chr11:62761244G>C	AF097491, BC022387	CCDS8042.1, CCDS53643.1, CCDS53644.1	11q12.3	2013-05-22			ENSG00000149452	ENSG00000149452		"""Solute carriers"""	10972	protein-coding gene	gene with protein product		607581				10049739	Standard	NM_004254		Approved	OAT3	uc001nwo.3	Q8TCC7	OTTHUMG00000167768	ENST00000336232.2:c.1323C>G	11.37:g.62761244G>C	ENSP00000337335:p.Ile441Met					SLC22A8_uc001nwn.1_3'UTR|SLC22A8_uc001nwp.2_Missense_Mutation_p.I441M|SLC22A8_uc009yom.2_Missense_Mutation_p.I318M|SLC22A8_uc010rmm.1_Missense_Mutation_p.I350M|SLC22A8_uc009yon.2_Missense_Mutation_p.I441M	p.I441M	NM_004254	NP_004245	Q8TCC7	S22A8_HUMAN			9	1459	-			441			Cytoplasmic (Potential).		B4DPH7|F5GWA8|F5H5J1|O95820|Q59EW9|Q96TC1	Missense_Mutation	SNP	ENST00000336232.2	37	c.1323C>G	CCDS8042.1	.	.	.	.	.	.	.	.	.	.	G	17.98	3.520772	0.64747	.	.	ENSG00000149452	ENST00000336232;ENST00000540631;ENST00000545207;ENST00000535878;ENST00000311438;ENST00000430500	T;T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93;-0.93	5.89	1.88	0.25563	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.150248	0.64402	D	0.000017	T	0.81640	0.4865	M	0.82823	2.61	0.34532	D	0.70928	P;P	0.41673	0.586;0.759	B;P	0.53760	0.412;0.734	D	0.84449	0.0587	10	0.87932	D	0	.	8.6615	0.34095	0.3297:0.0:0.6703:0.0	.	441;441	Q8TCC7-2;Q8TCC7	.;S22A8_HUMAN	M	441;427;350;318;441;441	ENSP00000337335:I441M;ENSP00000441658:I350M;ENSP00000443368:I318M;ENSP00000311463:I441M;ENSP00000398548:I441M	ENSP00000311463:I441M	I	-	3	3	SLC22A8	62517820	1.000000	0.71417	0.921000	0.36526	0.989000	0.77384	1.652000	0.37313	0.090000	0.17273	0.655000	0.94253	ATC		0.562	SLC22A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396191.1	NM_004254		9	97	0	0	0	0.000978	0	9	97				
FRMD8	83786	broad.mit.edu	37	11	65154527	65154527	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr11:65154527G>T	ENST00000317568.5	+	2	183	c.20G>T	c.(19-21)aGt>aTt	p.S7I	FRMD8_ENST00000355991.5_Missense_Mutation_p.S7I|FRMD8_ENST00000531296.1_Missense_Mutation_p.S7I|FRMD8_ENST00000416776.2_Missense_Mutation_p.S7I	NM_031904.3	NP_114110.1	Q9BZ67	FRMD8_HUMAN	FERM domain containing 8	7						cytoskeleton (GO:0005856)		p.S7I(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|urinary_tract(1)	17						ACAGAAGGCAGTGCCGGGCAG	0.657																																							uc001odu.3		NA																	2	Substitution - Missense(2)		lung(2)	lung(1)|pancreas(1)	2						c.(19-21)AGT>ATT		FERM domain containing 8							75.0	87.0	83.0					11																	65154527		2201	4297	6498	SO:0001583	missense	83786					cytoskeleton	binding	g.chr11:65154527G>T	AK074850	CCDS8102.1, CCDS73320.1	11q13.1	2007-08-14			ENSG00000126391	ENSG00000126391			25462	protein-coding gene	gene with protein product						12477932	Standard	NM_031904		Approved	FLJ90369, FKSG44	uc001odu.4	Q9BZ67	OTTHUMG00000166275	ENST00000317568.5:c.20G>T	11.37:g.65154527G>T	ENSP00000319726:p.Ser7Ile					FRMD8_uc009yqj.2_Missense_Mutation_p.S7I|FRMD8_uc010rof.1_Missense_Mutation_p.S7I	p.S7I	NM_031904	NP_114110	Q9BZ67	FRMD8_HUMAN			2	212	+			7					B4E2P1|Q86V56|Q8NCB5	Missense_Mutation	SNP	ENST00000317568.5	37	c.20G>T	CCDS8102.1	.	.	.	.	.	.	.	.	.	.	G	15.58	2.875047	0.51695	.	.	ENSG00000126391	ENST00000317568;ENST00000531296;ENST00000533782;ENST00000355991;ENST00000416776;ENST00000526201;ENST00000525156	D;T;T;D	0.84146	-1.79;-1.23;-1.23;-1.81	5.37	-5.46	0.02608	.	1.075340	0.07160	N	0.850555	T	0.75997	0.3926	L	0.36672	1.1	0.09310	N	1	B;B;B	0.29085	0.232;0.189;0.119	B;B;B	0.30179	0.102;0.112;0.052	T	0.65639	-0.6119	10	0.72032	D	0.01	-0.1416	8.2513	0.31724	0.6596:0.1244:0.216:0.0	.	7;7;7	B4E2P1;Q9BZ67-2;Q9BZ67	.;.;FRMD8_HUMAN	I	7	ENSP00000319726:S7I;ENSP00000435913:S7I;ENSP00000348270:S7I;ENSP00000392111:S7I	ENSP00000319726:S7I	S	+	2	0	FRMD8	64911103	0.002000	0.14202	0.006000	0.13384	0.256000	0.26092	-0.246000	0.08878	-1.023000	0.03342	-0.258000	0.10820	AGT		0.657	FRMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388833.1	NM_031904		94	192	1	0	1.25848e-56	0.00361	1.5809e-56	94	192				
CCDC87	55231	broad.mit.edu	37	11	66358453	66358453	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr11:66358453C>T	ENST00000333861.3	-	1	2101	c.2034G>A	c.(2032-2034)ctG>ctA	p.L678L	CCS_ENST00000310190.4_5'Flank|CCS_ENST00000533244.1_5'Flank	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	678					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)			p.L678L(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						TCTGCAGGCTCAGAATTTTGT	0.532																																							uc001oiq.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|skin(1)	2						c.(2032-2034)CTG>CTA		coiled-coil domain containing 87							51.0	49.0	50.0					11																	66358453		2200	4295	6495	SO:0001819	synonymous_variant	55231							g.chr11:66358453C>T	BC034469	CCDS8145.1	11q13.2	2006-03-15			ENSG00000182791	ENSG00000182791			25579	protein-coding gene	gene with protein product						12477932	Standard	NM_018219		Approved	FLJ10786	uc001oiq.4	Q9NVE4	OTTHUMG00000167237	ENST00000333861.3:c.2034G>A	11.37:g.66358453C>T						CCS_uc001oir.2_5'Flank	p.L678L	NM_018219	NP_060689	Q9NVE4	CCD87_HUMAN			1	2102	-			678					Q8NE76	Silent	SNP	ENST00000333861.3	37	c.2034G>A	CCDS8145.1																																																																																				0.532	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393825.1	NM_018219		48	118	0	0	0	0.00361	0	48	118				
PPP6R3	55291	broad.mit.edu	37	11	68326137	68326137	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr11:68326137C>T	ENST00000393800.2	+	8	1089	c.835C>T	c.(835-837)Cga>Tga	p.R279*	PPP6R3_ENST00000534534.1_Intron|PPP6R3_ENST00000529710.1_Nonsense_Mutation_p.R279*|PPP6R3_ENST00000393801.3_Nonsense_Mutation_p.R279*|PPP6R3_ENST00000524904.1_Nonsense_Mutation_p.R279*|PPP6R3_ENST00000265637.4_Nonsense_Mutation_p.R279*|PPP6R3_ENST00000524845.1_Nonsense_Mutation_p.R279*|PPP6R3_ENST00000393799.2_Nonsense_Mutation_p.R279*|PPP6R3_ENST00000265636.5_Nonsense_Mutation_p.R279*|PPP6R3_ENST00000527403.2_Nonsense_Mutation_p.R279*	NM_001164161.1|NM_001164162.1|NM_001164163.1	NP_001157633.1|NP_001157634.1|NP_001157635.1	Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	279					regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						ACTTGAGACACGACGACCAAC	0.348																																							uc001onw.2		NA																	0					0						c.(835-837)CGA>TGA		SAPS domain family, member 3 isoform 6							111.0	102.0	105.0					11																	68326137		2200	4294	6494	SO:0001587	stop_gained	55291				regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding	g.chr11:68326137C>T	AF264779	CCDS8182.1, CCDS53671.1, CCDS53672.1, CCDS53673.1, CCDS53674.1, CCDS53675.1	11q13	2012-04-17	2010-06-28	2010-06-28	ENSG00000110075	ENSG00000110075		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	1173	protein-coding gene	gene with protein product	"""sporulation-induced transcript 4-associated protein"""	610879	"""chromosome 11 open reading frame 23"", ""SAPS domain family, member 3"""	C11orf23, SAPS3		11401438, 16769727	Standard	NM_018312		Approved	SAPLa, DKFZp781E2374, DKFZp781O2362, DKFZp781E17107, SAP190, SAPL, PP6R3, FLJ11058, FLJ43065, KIAA1558, MGC125711, MGC125712	uc001onv.3	Q5H9R7		ENST00000393800.2:c.835C>T	11.37:g.68326137C>T	ENSP00000377389:p.Arg279*					SAPS3_uc001onv.2_Nonsense_Mutation_p.R279*|SAPS3_uc001ony.3_Nonsense_Mutation_p.R279*|SAPS3_uc001onx.2_Nonsense_Mutation_p.R279*|SAPS3_uc009ysh.2_Nonsense_Mutation_p.R279*|SAPS3_uc001onu.2_Nonsense_Mutation_p.R279*|SAPS3_uc010rqc.1_Intron|SAPS3_uc010rqd.1_Translation_Start_Site	p.R279*	NM_001164161	NP_001157633	Q5H9R7	PP6R3_HUMAN	LUAD - Lung adenocarcinoma(13;0.102)		8	1102	+			279					Q3B7I1|Q3I4Y0|Q3KR35|Q68CR3|Q7L4R8|Q8N3B2|Q96MB2|Q9H2K5|Q9H2K6|Q9HCL4|Q9NUY3	Nonsense_Mutation	SNP	ENST00000393800.2	37	c.835C>T	CCDS53672.1	.	.	.	.	.	.	.	.	.	.	C	39	7.760173	0.98474	.	.	ENSG00000110075	ENST00000393799;ENST00000393800;ENST00000524845;ENST00000265637;ENST00000524904;ENST00000393801;ENST00000265636;ENST00000529710;ENST00000527403;ENST00000534190	.	.	.	5.45	4.48	0.54585	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.4491	0.50142	0.3414:0.6586:0.0:0.0	.	.	.	.	X	279;279;279;279;279;279;279;279;279;10	.	ENSP00000265636:R279X	R	+	1	2	PPP6R3	68082713	0.778000	0.28640	0.905000	0.35620	0.950000	0.60333	1.391000	0.34475	2.836000	0.97738	0.655000	0.94253	CGA		0.348	PPP6R3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395275.1	NM_018312		5	113	0	0	0	0.001168	0	5	113				
PPP6R3	55291	broad.mit.edu	37	11	68377414	68377414	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr11:68377414A>C	ENST00000393800.2	+	23	2747	c.2493A>C	c.(2491-2493)aaA>aaC	p.K831N	PPP6R3_ENST00000534534.1_Missense_Mutation_p.K599N|PPP6R3_ENST00000529710.1_Missense_Mutation_p.K751N|PPP6R3_ENST00000393801.3_Missense_Mutation_p.K837N|PPP6R3_ENST00000524904.1_Missense_Mutation_p.K825N|PPP6R3_ENST00000265637.4_Missense_Mutation_p.K785N|PPP6R3_ENST00000524845.1_Missense_Mutation_p.K802N|PPP6R3_ENST00000393799.2_Missense_Mutation_p.K837N|PPP6R3_ENST00000265636.5_Missense_Mutation_p.K751N|PPP6R3_ENST00000527403.2_Missense_Mutation_p.K796N	NM_001164161.1|NM_001164162.1|NM_001164163.1	NP_001157633.1|NP_001157634.1|NP_001157635.1	Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	831					regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)	p.K837N(2)|p.K751N(2)		breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CTGCTTGTAAAGACGCAGAGG	0.592																																							uc001onw.2		NA																	4	Substitution - Missense(4)		lung(4)		0						c.(2491-2493)AAA>AAC		SAPS domain family, member 3 isoform 6							139.0	119.0	126.0					11																	68377414		2200	4294	6494	SO:0001583	missense	55291				regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding	g.chr11:68377414A>C	AF264779	CCDS8182.1, CCDS53671.1, CCDS53672.1, CCDS53673.1, CCDS53674.1, CCDS53675.1	11q13	2012-04-17	2010-06-28	2010-06-28	ENSG00000110075	ENSG00000110075		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	1173	protein-coding gene	gene with protein product	"""sporulation-induced transcript 4-associated protein"""	610879	"""chromosome 11 open reading frame 23"", ""SAPS domain family, member 3"""	C11orf23, SAPS3		11401438, 16769727	Standard	NM_018312		Approved	SAPLa, DKFZp781E2374, DKFZp781O2362, DKFZp781E17107, SAP190, SAPL, PP6R3, FLJ11058, FLJ43065, KIAA1558, MGC125711, MGC125712	uc001onv.3	Q5H9R7		ENST00000393800.2:c.2493A>C	11.37:g.68377414A>C	ENSP00000377389:p.Lys831Asn					SAPS3_uc001onv.2_Missense_Mutation_p.K837N|SAPS3_uc001ony.3_Missense_Mutation_p.K802N|SAPS3_uc001onx.2_Missense_Mutation_p.K825N|SAPS3_uc009ysh.2_Missense_Mutation_p.K751N|SAPS3_uc001onu.2_Missense_Mutation_p.K751N|SAPS3_uc010rqc.1_Missense_Mutation_p.K599N|SAPS3_uc010rqd.1_Missense_Mutation_p.K514N|SAPS3_uc001onz.2_Missense_Mutation_p.K159N|SAPS3_uc001ooa.2_Missense_Mutation_p.K287N	p.K831N	NM_001164161	NP_001157633	Q5H9R7	PP6R3_HUMAN	LUAD - Lung adenocarcinoma(13;0.102)		23	2760	+			831					Q3B7I1|Q3I4Y0|Q3KR35|Q68CR3|Q7L4R8|Q8N3B2|Q96MB2|Q9H2K5|Q9H2K6|Q9HCL4|Q9NUY3	Missense_Mutation	SNP	ENST00000393800.2	37	c.2493A>C	CCDS53672.1	.	.	.	.	.	.	.	.	.	.	A	15.72	2.915613	0.52546	.	.	ENSG00000110075	ENST00000393799;ENST00000393800;ENST00000534534;ENST00000524845;ENST00000265637;ENST00000524904;ENST00000393801;ENST00000265636;ENST00000529710;ENST00000527403;ENST00000534190	T;T;T;T;T;T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74	5.36	1.58	0.23477	.	0.203203	0.43416	D	0.000569	T	0.49881	0.1583	L	0.53249	1.67	0.28788	N	0.899455	D;D;D;P;P;P;D;P	0.61697	0.984;0.99;0.981;0.919;0.865;0.788;0.968;0.902	P;P;P;P;P;B;P;B	0.56612	0.802;0.723;0.797;0.61;0.471;0.405;0.767;0.342	T	0.42015	-0.9476	10	0.37606	T	0.19	.	6.241	0.20791	0.7223:0.1348:0.1428:0.0	.	514;599;751;802;825;831;837;751	B4DYU6;E9PQP7;Q5H9R7-3;Q5H9R7-6;Q5H9R7-2;Q5H9R7;Q5H9R7-5;Q5H9R7-4	.;.;.;.;.;PP6R3_HUMAN;.;.	N	837;831;599;802;785;825;837;751;751;796;538	ENSP00000377388:K837N;ENSP00000377389:K831N;ENSP00000434429:K599N;ENSP00000431415:K802N;ENSP00000265637:K785N;ENSP00000433058:K825N;ENSP00000377390:K837N;ENSP00000265636:K751N;ENSP00000437329:K751N;ENSP00000433565:K796N;ENSP00000436209:K538N	ENSP00000265636:K751N	K	+	3	2	PPP6R3	68133990	1.000000	0.71417	0.963000	0.40424	0.674000	0.39518	1.612000	0.36889	0.357000	0.24183	0.379000	0.24179	AAA		0.592	PPP6R3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395275.1	NM_018312		60	140	0	0	0	0.00361	0	60	140				
UVRAG	7405	broad.mit.edu	37	11	75852254	75852254	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr11:75852254G>A	ENST00000356136.3	+	15	2138	c.1897G>A	c.(1897-1899)Gaa>Aaa	p.E633K	UVRAG_ENST00000532130.1_Missense_Mutation_p.E261K|UVRAG_ENST00000528420.1_Missense_Mutation_p.E532K|UVRAG_ENST00000533454.1_Missense_Mutation_p.E261K|UVRAG_ENST00000538870.1_Missense_Mutation_p.E189K|UVRAG_ENST00000531818.1_Missense_Mutation_p.E261K|UVRAG_ENST00000539288.1_Missense_Mutation_p.E261K	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	633					DNA repair (GO:0006281)|positive regulation of autophagy (GO:0010508)|SNARE complex assembly (GO:0035493)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)		p.E633K(2)		central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						GGAGCAAGCAGAAGAAATCAT	0.567																																							uc001oxc.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(4)|lung(2)	6						c.(1897-1899)GAA>AAA		UV radiation resistance associated							62.0	63.0	63.0					11																	75852254		2200	4292	6492	SO:0001583	missense	7405				DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding	g.chr11:75852254G>A	X99050, AB012958	CCDS8241.1	11q13	2012-11-15	2012-11-15		ENSG00000198382	ENSG00000198382			12640	protein-coding gene	gene with protein product	"""beclin 1 binding protein"""	602493	"""UV radiation resistance associated gene"""			9169138, 16799551, 18843052	Standard	NM_003369		Approved	VPS38	uc001oxc.3	Q9P2Y5	OTTHUMG00000165319	ENST00000356136.3:c.1897G>A	11.37:g.75852254G>A	ENSP00000348455:p.Glu633Lys					UVRAG_uc010rrw.1_Missense_Mutation_p.E532K|UVRAG_uc001oxd.2_Missense_Mutation_p.E261K|UVRAG_uc010rrx.1_Missense_Mutation_p.E261K|UVRAG_uc010rry.1_Missense_Mutation_p.E189K	p.E633K	NM_003369	NP_003360	Q9P2Y5	UVRAG_HUMAN			15	2138	+			633					B3KTC1|O00392	Missense_Mutation	SNP	ENST00000356136.3	37	c.1897G>A	CCDS8241.1	.	.	.	.	.	.	.	.	.	.	G	34	5.294680	0.95546	.	.	ENSG00000198382	ENST00000356136;ENST00000528420;ENST00000533454;ENST00000531818;ENST00000532130;ENST00000539288;ENST00000538870	T	0.62498	0.02	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.73385	0.3580	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.994	T	0.75039	-0.3458	10	0.87932	D	0	-20.2977	18.9404	0.92602	0.0:0.0:1.0:0.0	.	189;633	B7Z6A0;Q9P2Y5	.;UVRAG_HUMAN	K	633;532;261;261;261;261;189	ENSP00000348455:E633K	ENSP00000348455:E633K	E	+	1	0	UVRAG	75529902	1.000000	0.71417	0.974000	0.42286	0.976000	0.68499	9.188000	0.94921	2.725000	0.93324	0.655000	0.94253	GAA		0.567	UVRAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383430.1	NM_003369		7	105	0	0	0	0.001984	0	7	105				
PRKRIR	5612	broad.mit.edu	37	11	76062972	76062972	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr11:76062972G>A	ENST00000260045.3	-	5	1327	c.1222C>T	c.(1222-1224)Ctt>Ttt	p.L408F	PRKRIR_ENST00000531878.1_5'Flank	NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	408					negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)|signal transduction (GO:0007165)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L408F(2)		cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						TTCTGAAAAAGAACAGAAATT	0.383																																							uc001oxh.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)	3						c.(1222-1224)CTT>TTT		protein-kinase, interferon-inducible double							19.0	19.0	19.0					11																	76062972		2166	4235	6401	SO:0001583	missense	5612				negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity	g.chr11:76062972G>A	AF007393	CCDS8243.1	11q13.5	2013-01-25			ENSG00000137492	ENSG00000137492		"""THAP (C2CH-type zinc finger) domain containing"""	9440	protein-coding gene	gene with protein product	"""THAP domain containing 12"""	607374				9447982	Standard	NM_004705		Approved	P52rIPK, DAP4, THAP12	uc001oxh.1	O43422	OTTHUMG00000165280	ENST00000260045.3:c.1222C>T	11.37:g.76062972G>A	ENSP00000260045:p.Leu408Phe					PRKRIR_uc010rrz.1_Missense_Mutation_p.L233F	p.L408F	NM_004705	NP_004696	O43422	P52K_HUMAN			5	1222	-			408					A8K728|Q17RY9|Q8WTW1|Q9Y3Z4	Missense_Mutation	SNP	ENST00000260045.3	37	c.1222C>T	CCDS8243.1	.	.	.	.	.	.	.	.	.	.	G	6.210	0.406923	0.11754	.	.	ENSG00000137492	ENST00000529901;ENST00000260045	.	.	.	4.78	4.78	0.61160	Ribonuclease H-like (1);	0.052433	0.85682	D	0.000000	T	0.65439	0.2691	L	0.56769	1.78	0.46096	D	0.998869	B	0.20550	0.046	B	0.19391	0.025	T	0.63607	-0.6599	9	0.42905	T	0.14	.	18.3441	0.90315	0.0:0.0:1.0:0.0	.	408	O43422	P52K_HUMAN	F	233;408	.	ENSP00000260045:L408F	L	-	1	0	PRKRIR	75740620	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.404000	0.44539	2.416000	0.81992	0.644000	0.83932	CTT		0.383	PRKRIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383188.1	NM_004705		21	44	0	0	0	0.004656	0	21	44				
CCDC90B	60492	broad.mit.edu	37	11	82985720	82985720	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr11:82985720C>G	ENST00000529689.1	-	4	822	c.388G>C	c.(388-390)Gag>Cag	p.E130Q	CCDC90B_ENST00000529073.1_Missense_Mutation_p.E130Q|CCDC90B_ENST00000525503.1_Missense_Mutation_p.E29Q|CCDC90B_ENST00000455220.2_Missense_Mutation_p.E121Q|CCDC90B_ENST00000529611.1_Missense_Mutation_p.E29Q			Q9GZT6	CC90B_HUMAN	coiled-coil domain containing 90B	130						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.E130Q(2)		kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Acute lymphoblastic leukemia(157;0.103)				TCACTTTTCTCTAGGATGACC	0.308																																							uc001pae.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(388-390)GAG>CAG		coiled-coil domain containing 90B precursor							93.0	86.0	88.0					11																	82985720		2202	4300	6502	SO:0001583	missense	60492					integral to membrane|mitochondrion|mitochondrion		g.chr11:82985720C>G	BC048795	CCDS8266.1, CCDS66190.1, CCDS66191.1	11q14.1	2006-10-23			ENSG00000137500	ENSG00000137500			28108	protein-coding gene	gene with protein product						11230166	Standard	XM_005274154		Approved	MDS025, MDS011	uc001pae.3	Q9GZT6	OTTHUMG00000167078	ENST00000529689.1:c.388G>C	11.37:g.82985720C>G	ENSP00000434724:p.Glu130Gln					CCDC90B_uc001pac.2_Missense_Mutation_p.E29Q|CCDC90B_uc001pad.2_Missense_Mutation_p.E29Q|CCDC90B_uc001paf.2_Missense_Mutation_p.E121Q	p.E130Q	NM_021825	NP_068597	Q9GZT6	CC90B_HUMAN			4	750	-		Acute lymphoblastic leukemia(157;0.103)	130			Potential.		A8K8I4|B3KP87|B4E3L2|Q3B781|Q9GZU6	Missense_Mutation	SNP	ENST00000529689.1	37	c.388G>C	CCDS8266.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.737446	0.49045	.	.	ENSG00000137500	ENST00000529689;ENST00000455220;ENST00000525503;ENST00000529611;ENST00000527495;ENST00000529073	T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	M	0.62088	1.915	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.70487	0.913;0.969	T	0.60821	-0.7187	9	.	.	.	-6.9968	18.8969	0.92427	0.0:1.0:0.0:0.0	.	121;130	Q9GZT6-2;Q9GZT6	.;CC90B_HUMAN	Q	130;121;29;29;57;130	ENSP00000434724:E130Q;ENSP00000390990:E121Q;ENSP00000431424:E29Q;ENSP00000431345:E29Q;ENSP00000436974:E57Q;ENSP00000431523:E130Q	.	E	-	1	0	CCDC90B	82663368	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.949000	0.75971	2.524000	0.85096	0.467000	0.42956	GAG		0.308	CCDC90B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392940.2	NM_021825		13	48	0	0	0	0.004007	0	13	48				
C11orf70	85016	broad.mit.edu	37	11	101953881	101953881	+	Missense_Mutation	SNP	G	G	A	rs528406781		TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr11:101953881G>A	ENST00000434758.2	+	7	783	c.755G>A	c.(754-756)cGt>cAt	p.R252H		NM_032930.2	NP_116319.2	Q9BRQ4	CK070_HUMAN	chromosome 11 open reading frame 70	252								p.R214H(2)		breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)		CCTATCAGGCGTCACCTTCAT	0.343													G|||	1	0.000199681	0.0	0.0	5008	,	,		11547	0.0		0.001	False		,,,				2504	0.0						uc001pgp.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(754-756)CGT>CAT		hypothetical protein LOC85016							193.0	182.0	186.0					11																	101953881		2203	4298	6501	SO:0001583	missense	85016							g.chr11:101953881G>A	AK094851	CCDS8313.1, CCDS8313.2, CCDS53698.1	11q22.1	2012-05-31			ENSG00000137691	ENSG00000137691			28188	protein-coding gene	gene with protein product							Standard	NM_032930		Approved	MGC13040	uc001pgp.3	Q9BRQ4	OTTHUMG00000167320	ENST00000434758.2:c.755G>A	11.37:g.101953881G>A	ENSP00000414390:p.Arg252His					C11orf70_uc001pgq.2_Missense_Mutation_p.R214H	p.R252H	NM_032930	NP_116319	Q9BRQ4	CK070_HUMAN	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)	7	783	+	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	252					E9PJU1	Missense_Mutation	SNP	ENST00000434758.2	37	c.755G>A	CCDS8313.2	.	.	.	.	.	.	.	.	.	.	G	16.57	3.160151	0.57368	.	.	ENSG00000137691	ENST00000434758;ENST00000423732	.	.	.	5.85	5.85	0.93711	.	0.111228	0.64402	D	0.000009	T	0.73682	0.3618	L	0.59436	1.845	0.80722	D	1	D	0.67145	0.996	P	0.57371	0.819	T	0.71998	-0.4423	9	0.45353	T	0.12	-17.7212	19.7613	0.96319	0.0:0.0:1.0:0.0	.	252	Q9BRQ4	CK070_HUMAN	H	252;214	.	ENSP00000392150:R214H	R	+	2	0	C11orf70	101459091	1.000000	0.71417	1.000000	0.80357	0.234000	0.25298	4.742000	0.62103	2.773000	0.95371	0.585000	0.79938	CGT		0.343	C11orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394144.1	NM_032930		60	174	0	0	0	0.00361	0	60	174				
GUCY1A2	2977	broad.mit.edu	37	11	106810208	106810208	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr11:106810208G>A	ENST00000526355.2	-	4	1652	c.1184C>T	c.(1183-1185)tCt>tTt	p.S395F	GUCY1A2_ENST00000282249.2_Missense_Mutation_p.S395F|GUCY1A2_ENST00000347596.2_Missense_Mutation_p.S395F	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	395					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|positive regulation of cGMP biosynthetic process (GO:0030828)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)	p.S395F(2)		breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	Isosorbide Mononitrate(DB01020)|Nitric Oxide(DB00435)	TTCAGAGCCAGAAGCCTCAGG	0.438																																							uc001pjg.1		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(3)|lung(2)|pancreas(2)|ovary(1)	8						c.(1183-1185)TCT>TTT		guanylate cyclase 1, soluble, alpha 2							87.0	91.0	90.0					11																	106810208		2201	4298	6499	SO:0001583	missense	2977				intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding	g.chr11:106810208G>A	X63282	CCDS8335.1, CCDS58170.1	11q21-q22	2008-03-18			ENSG00000152402	ENSG00000152402	4.6.1.2		4684	protein-coding gene	gene with protein product		601244		GUC1A2		1683630	Standard	NM_000855		Approved	GC-SA2	uc001pjg.2	P33402	OTTHUMG00000166296	ENST00000526355.2:c.1184C>T	11.37:g.106810208G>A	ENSP00000431245:p.Ser395Phe					GUCY1A2_uc010rvo.1_Missense_Mutation_p.S395F|GUCY1A2_uc009yxn.1_Missense_Mutation_p.S395F	p.S395F	NM_000855	NP_000846	P33402	GCYA2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	4	1574	-		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)	395					A1L4C4|B7ZLT5	Missense_Mutation	SNP	ENST00000526355.2	37	c.1184C>T	CCDS8335.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.024737	0.75390	.	.	ENSG00000152402	ENST00000526355;ENST00000282249;ENST00000347596	D;D;D	0.88741	-2.42;-2.42;-2.37	5.67	5.67	0.87782	Haem NO binding associated (1);	0.000000	0.44902	U	0.000404	D	0.92371	0.7579	M	0.71036	2.16	0.58432	D	0.999996	D;B;D	0.62365	0.991;0.066;0.975	P;B;P	0.60345	0.873;0.048;0.686	D	0.89051	0.3455	10	0.09843	T	0.71	.	18.7434	0.91782	0.0:0.0:1.0:0.0	.	395;395;395	B7ZLT5;P33402-2;P33402	.;.;GCYA2_HUMAN	F	395	ENSP00000431245:S395F;ENSP00000282249:S395F;ENSP00000344874:S395F	ENSP00000282249:S395F	S	-	2	0	GUCY1A2	106315418	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.418000	0.73341	2.679000	0.91253	0.591000	0.81541	TCT		0.438	GUCY1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389003.2			24	233	0	0	0	0.00278	0	24	233				
ATN1	1822	broad.mit.edu	37	12	7045360	7045360	+	Silent	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr12:7045360C>G	ENST00000356654.4	+	5	1167	c.930C>G	c.(928-930)ctC>ctG	p.L310L	ATN1_ENST00000396684.2_Silent_p.L310L	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	310					cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)	p.L310L(2)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						TGAGACCCCTCAACAATGCAT	0.637																																							uc001qrw.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)|breast(2)|pancreas(1)|skin(1)	6						c.(928-930)CTC>CTG		atrophin-1							82.0	64.0	70.0					12																	7045360		2203	4300	6503	SO:0001819	synonymous_variant	1822				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding	g.chr12:7045360C>G	U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"""dentatorubral-pallidoluysian atrophy (atrophin-1)"""	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.930C>G	12.37:g.7045360C>G						ATN1_uc001qrx.1_Silent_p.L310L|ATN1_uc001qry.1_Silent_p.L309L	p.L310L	NM_001007026	NP_001007027	P54259	ATN1_HUMAN			5	1167	+			310					Q99495|Q99621|Q9UEK7	Silent	SNP	ENST00000356654.4	37	c.930C>G	CCDS31734.1																																																																																				0.637	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940		20	142	0	0	0	0.001882	0	20	142				
DDX12P	440081	broad.mit.edu	37	12	9572801	9572801	+	IGR	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr12:9572801C>T								RP13-735L24.1 (22588 upstream) : SNORA75 (24852 downstream)														p.A751A(2)									ACCTGGAATACGCCAGCAGCA	0.557																																							uc010sgs.1		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(2251-2253)GCG>GCA		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12							23.0	9.0	13.0					12																	9572801		688	1575	2263	SO:0001628	intergenic_variant	440081							g.chr12:9572801C>T																													12.37:g.9572801C>T						DDX12_uc001qvx.3_5'Flank|DDX12_uc001qvy.1_5'Flank	p.A751A	NM_004400	NP_004391					22	2448	-									Silent	SNP		37	c.2253G>A																																																																																				0	0.557									4	26	0	0	0	0.009096	0	4	26				
ABCC9	10060	broad.mit.edu	37	12	21958203	21958203	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr12:21958203A>G	ENST00000261201.4	-	38	4554	c.4555T>C	c.(4555-4557)Ttt>Ctt	p.F1519L	ABCC9_ENST00000261200.4_Intron|ABCC9_ENST00000345162.2_Missense_Mutation_p.F1483L	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1519	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	CCCTCAGAAAAGACTAAAACA	0.423																																							uc001rfi.1		NA																	0				ovary(4)|skin(2)	6						c.(4555-4557)TTT>CTT		ATP-binding cassette, sub-family C, member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						120.0	113.0	115.0					12																	21958203		2203	4300	6503	SO:0001583	missense	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:21958203A>G	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.4555T>C	12.37:g.21958203A>G	ENSP00000261201:p.Phe1519Leu					ABCC9_uc001rfh.2_Intron|ABCC9_uc001rfj.1_Missense_Mutation_p.F1483L|ABCC9_uc001rfg.2_Intron	p.F1519L	NM_005691	NP_005682	O60706	ABCC9_HUMAN			38	4575	-			1519			Cytoplasmic (Potential).|ABC transporter 2.		O60707	Missense_Mutation	SNP	ENST00000261201.4	37	c.4555T>C	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	A	6.839	0.524084	0.13066	.	.	ENSG00000069431	ENST00000544039;ENST00000261201;ENST00000345162	D;D;D	0.85171	-1.95;-1.95;-1.95	5.95	4.82	0.62117	ATPase, AAA+ type, core (1);ABC transporter-like (1);	.	.	.	.	T	0.52853	0.1760	N	0.00465	-1.465	0.35130	D	0.767861	B	0.02656	0.0	B	0.01281	0.0	T	0.57493	-0.7802	9	0.02654	T	1	.	8.4111	0.32644	0.8382:0.0:0.1618:0.0	.	1519	O60706	ABCC9_HUMAN	L	1146;1519;1483	ENSP00000440521:F1146L;ENSP00000261201:F1519L;ENSP00000261202:F1483L	ENSP00000261201:F1519L	F	-	1	0	ABCC9	21849470	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.056000	0.57448	1.087000	0.41251	0.528000	0.53228	TTT		0.423	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		3	81	0	0	0	0.004672	0	3	81				
ETNK1	55500	broad.mit.edu	37	12	22778145	22778145	+	Silent	SNP	C	C	G	rs200778161		TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr12:22778145C>G	ENST00000266517.4	+	1	137	c.48C>G	c.(46-48)ctC>ctG	p.L16L	ETNK1_ENST00000335148.3_Silent_p.L16L|RP11-268P4.4_ENST00000542076.1_RNA	NM_018638.4	NP_061108.2	Q9HBU6	EKI1_HUMAN	ethanolamine kinase 1	16					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|ethanolamine kinase activity (GO:0004305)	p.L16L(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GGAATTTTCTCCGAGAGCGGG	0.721																																					Esophageal Squamous(42;87 913 3224 6226 43339)	Esophageal Squamous(42;87 913 3224 6226 43339)	uc001rft.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(46-48)CTC>CTG		ethanolamine kinase 1 isoform A		C	,	0,4340		0,0,2170	11.0	15.0	14.0		48,48	1.8	0.0	12		14	1,8493		0,1,4246	no	coding-synonymous,coding-synonymous	ETNK1	NM_001039481.1,NM_018638.4	,	0,1,6416	GG,GC,CC		0.0118,0.0,0.0078	,	16/259,16/453	22778145	1,12833	2170	4247	6417	SO:0001819	synonymous_variant	55500				phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|ethanolamine kinase activity	g.chr12:22778145C>G	BC006111	CCDS8698.1, CCDS41760.1	12p12.2	2004-07-09			ENSG00000139163	ENSG00000139163			24649	protein-coding gene	gene with protein product		609858				11912161, 11044454	Standard	XM_005253420		Approved	EKI1, EKI	uc001rft.3	Q9HBU6	OTTHUMG00000169008	ENST00000266517.4:c.48C>G	12.37:g.22778145C>G						ETNK1_uc009ziz.2_Silent_p.L16L|ETNK1_uc001rfs.2_Silent_p.L16L	p.L16L	NM_018638	NP_061108	Q9HBU6	EKI1_HUMAN			1	70	+			16					G5E969	Silent	SNP	ENST00000266517.4	37	c.48C>G	CCDS8698.1	.	.	.	.	.	.	.	.	.	.	C	7.198	0.592951	0.13875	0.0	1.18E-4	ENSG00000139163	ENST00000538218	.	.	.	4.62	1.78	0.24846	.	.	.	.	.	T	0.24774	0.0601	.	.	.	0.09310	N	0.999992	.	.	.	.	.	.	T	0.22521	-1.0214	4	.	.	.	0.3409	4.4836	0.11780	0.0:0.6139:0.1849:0.2012	.	.	.	.	C	7	.	.	S	+	2	0	ETNK1	22669412	0.002000	0.14202	0.002000	0.10522	0.150000	0.21749	0.896000	0.28377	0.186000	0.20125	0.558000	0.71614	TCC		0.721	ETNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401926.2	NM_018638		4	45	0	0	0	0.009096	0	4	45				
NCKAP1L	3071	broad.mit.edu	37	12	54914904	54914904	+	Splice_Site	SNP	A	A	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr12:54914904A>G	ENST00000293373.6	+	18	1839	c.1760A>G	c.(1759-1761)tAc>tGc	p.Y587C	NCKAP1L_ENST00000545638.2_Splice_Site_p.Y537C	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	587					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)	p.Y587C(2)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TTCCCATAGTACCCCCACCTC	0.517																																							uc001sgc.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|central_nervous_system(1)	4						c.(1759-1761)TAC>TGC		NCK-associated protein 1-like							160.0	132.0	142.0					12																	54914904		2203	4300	6503	SO:0001630	splice_region_variant	3071				actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	g.chr12:54914904A>G	AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"""hematopoietic protein 1"""	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.1759-1A>G	12.37:g.54914904A>G						NCKAP1L_uc010sox.1_Missense_Mutation_p.Y129C|NCKAP1L_uc010soy.1_Missense_Mutation_p.Y537C	p.Y587C	NM_005337	NP_005328	P55160	NCKPL_HUMAN			18	1839	+			587					B4DUT5|Q52LW0	Missense_Mutation	SNP	ENST00000293373.6	37	c.1760A>G	CCDS31813.1	.	.	.	.	.	.	.	.	.	.	A	15.15	2.747697	0.49257	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.30182	1.54;1.54	5.14	5.14	0.70334	.	0.282705	0.35970	N	0.002864	T	0.35537	0.0935	L	0.29908	0.895	0.32593	N	0.526884	D	0.56746	0.977	P	0.55508	0.777	T	0.44081	-0.9351	10	0.40728	T	0.16	-16.5409	13.2123	0.59832	1.0:0.0:0.0:0.0	.	587	P55160	NCKPL_HUMAN	C	587;537	ENSP00000293373:Y587C;ENSP00000445596:Y537C	ENSP00000293373:Y587C	Y	+	2	0	NCKAP1L	53201171	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	3.605000	0.54088	2.068000	0.61886	0.397000	0.26171	TAC		0.517	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337	Missense_Mutation	39	156	0	0	0	0.006999	0	39	156				
DNAJC14	85406	broad.mit.edu	37	12	56217256	56217256	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr12:56217256C>G	ENST00000357606.3	-	4	1733	c.1444G>C	c.(1444-1446)Gag>Cag	p.E482Q	DNAJC14_ENST00000317269.3_Missense_Mutation_p.E482Q|RP11-762I7.5_ENST00000552719.1_5'Flank|DNAJC14_ENST00000317287.5_Missense_Mutation_p.E482Q|RP11-762I7.5_ENST00000546837.1_Missense_Mutation_p.G111A			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	482	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.E482Q(2)		breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						TTGAAGGCCTCCTCAGCCCGG	0.438																																							uc001shx.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|large_intestine(1)	4						c.(1444-1446)GAG>CAG		dopamine receptor interacting protein							100.0	91.0	94.0					12																	56217256		2203	4300	6503	SO:0001583	missense	85406				protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding	g.chr12:56217256C>G	AF141342	CCDS8894.1	12q12	2011-09-02				ENSG00000135392		"""Heat shock proteins / DNAJ (HSP40)"""	24581	protein-coding gene	gene with protein product		606092				11331877, 11984006	Standard	NM_032364		Approved	DNAJ, DRIP78, HDJ3, LIP6, FLJ32792	uc001shu.2	Q6Y2X3		ENST00000357606.3:c.1444G>C	12.37:g.56217256C>G	ENSP00000350223:p.Glu482Gln					DNAJC14_uc001shu.1_Missense_Mutation_p.E482Q|DNAJC14_uc009zob.1_Missense_Mutation_p.E482Q	p.E482Q	NM_032364	NP_115740	Q6Y2X3	DJC14_HUMAN			3	1648	-			482			J.		A5YM67|Q17RY2|Q66K17|Q96N59|Q96T63	Missense_Mutation	SNP	ENST00000357606.3	37	c.1444G>C	CCDS8894.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.9|25.9	4.684266|4.684266	0.88639|0.88639	.|.	.|.	ENSG00000135392|ENSG00000257390	ENST00000357606;ENST00000317269;ENST00000537962;ENST00000317287|ENST00000546837	T;T;T|.	0.34667|.	1.35;1.35;1.35|.	5.85|5.85	5.85|5.85	0.93711|0.93711	Heat shock protein DnaJ, N-terminal (5);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.69949|0.69949	0.3168|0.3168	L|L	0.49640|0.49640	1.575|1.575	0.80722|0.80722	D|D	1|1	D;D|.	0.52996|.	0.957;0.957|.	D;D|.	0.65987|.	0.94;0.94|.	T|T	0.64360|0.64360	-0.6426|-0.6426	10|5	0.62326|.	D|.	0.03|.	-17.4854|-17.4854	18.0364|18.0364	0.89305|0.89305	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	482;482|.	Q6Y2X3;A8K5A7|.	DJC14_HUMAN;.|.	Q|A	482;482;192;482|111	ENSP00000350223:E482Q;ENSP00000316240:E482Q;ENSP00000317500:E482Q|.	ENSP00000316240:E482Q|.	E|G	-|-	1|2	0|0	DNAJC14|RP11-762I7.5	54503523|54503523	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.967000|0.967000	0.64934|0.64934	7.187000|7.187000	0.77730|0.77730	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GAG|GGA		0.438	DNAJC14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409095.1	NM_032364		20	110	0	0	0	0.010504	0	20	110				
STAT2	6773	broad.mit.edu	37	12	56744927	56744927	+	Missense_Mutation	SNP	C	C	T	rs149666262		TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr12:56744927C>T	ENST00000314128.4	-	10	1012	c.989G>A	c.(988-990)cGa>cAa	p.R330Q	STAT2_ENST00000418572.2_Missense_Mutation_p.R326Q|RNU7-40P_ENST00000516397.1_RNA|STAT2_ENST00000556539.1_5'Flank|STAT2_ENST00000557235.1_Missense_Mutation_p.R326Q			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	330					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.R330Q(3)		NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						GATGAGGGGTCGATGGGGAGT	0.507																																							uc001slc.2		NA																	3	Substitution - Missense(3)		lung(2)|large_intestine(1)	ovary(1)|lung(1)|kidney(1)	3						c.(988-990)CGA>CAA		signal transducer and activator of transcription		C	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	122.0	120.0	120.0		989,977	4.4	1.0	12	dbSNP_134	120	0,8600		0,0,4300	no	missense,missense	STAT2	NM_005419.3,NM_198332.1	43,43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	330/852,326/848	56744927	1,13005	2203	4300	6503	SO:0001583	missense	6773				interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:56744927C>T	BC051284	CCDS8917.1, CCDS55836.1	12q13.2	2013-02-14	2002-08-29			ENSG00000170581		"""SH2 domain containing"""	11363	protein-coding gene	gene with protein product		600556	"""signal transducer and activator of transcription 2, 113kD"""			7885841	Standard	NM_005419		Approved	STAT113	uc001slc.3	P52630		ENST00000314128.4:c.989G>A	12.37:g.56744927C>T	ENSP00000315768:p.Arg330Gln					STAT2_uc001slb.2_5'Flank|STAT2_uc001sld.2_Missense_Mutation_p.R326Q|STAT2_uc010sqn.1_Missense_Mutation_p.R326Q	p.R330Q	NM_005419	NP_005410	P52630	STAT2_HUMAN			10	1067	-			330					B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	Missense_Mutation	SNP	ENST00000314128.4	37	c.989G>A	CCDS8917.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.807407	0.90623	2.27E-4	0.0	ENSG00000170581	ENST00000314128;ENST00000557235;ENST00000418572	D;D;D	0.91631	-2.88;-2.88;-2.88	4.4	4.4	0.53042	STAT transcription factor, DNA-binding, subdomain (1);STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);	0.070425	0.56097	D	0.000023	D	0.95934	0.8676	M	0.79805	2.47	0.37811	D	0.928053	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.977;0.992;0.998	D	0.97472	1.0041	10	0.72032	D	0.01	-9.5184	16.2841	0.82710	0.0:1.0:0.0:0.0	.	326;326;330	B4DLC8;G3V2M6;P52630	.;.;STAT2_HUMAN	Q	330;326;326	ENSP00000315768:R330Q;ENSP00000450751:R326Q;ENSP00000387354:R326Q	ENSP00000315768:R330Q	R	-	2	0	STAT2	55031194	0.989000	0.36119	0.998000	0.56505	0.997000	0.91878	2.754000	0.47532	2.464000	0.83262	0.467000	0.42956	CGA		0.507	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410277.1	NM_005419		33	169	0	0	0	0.006999	0	33	169				
LRP1	4035	broad.mit.edu	37	12	57567684	57567684	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr12:57567684C>T	ENST00000243077.3	+	22	3934	c.3468C>T	c.(3466-3468)acC>acT	p.T1156T		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1156	LDL-receptor class A 10. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)	p.T1156T(2)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCAACAACACCTCAGTCTGCC	0.622																																							uc001snd.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22						c.(3466-3468)ACC>ACT		low density lipoprotein-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						155.0	109.0	125.0					12																	57567684		2203	4300	6503	SO:0001819	synonymous_variant	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57567684C>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.3468C>T	12.37:g.57567684C>T							p.T1156T	NM_002332	NP_002323	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	22	3934	+			1156			LDL-receptor class A 10.|Extracellular (Potential).		Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	ENST00000243077.3	37	c.3468C>T	CCDS8932.1																																																																																				0.622	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		39	114	0	0	0	0.006999	0	39	114				
C12orf56	115749	broad.mit.edu	37	12	64678484	64678484	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr12:64678484C>G	ENST00000543942.2	-	8	1896	c.1270G>C	c.(1270-1272)Gaa>Caa	p.E424Q	C12orf56_ENST00000536975.1_5'UTR|RPS11P6_ENST00000535684.1_RNA|C12orf56_ENST00000333722.5_Missense_Mutation_p.E264Q	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	chromosome 12 open reading frame 56	424								p.E264Q(2)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		GACTCGGTTTCTGTTTCTCTG	0.373																																							uc001ssa.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(790-792)GAA>CAA		hypothetical protein LOC115749							133.0	123.0	126.0					12																	64678484		1902	4123	6025	SO:0001583	missense	115749							g.chr12:64678484C>G		CCDS44935.1, CCDS61182.1	12q14.2	2012-08-15			ENSG00000185306	ENSG00000185306			26967	protein-coding gene	gene with protein product							Standard	NM_001099676		Approved		uc021qzu.1	Q8IXR9	OTTHUMG00000168782	ENST00000543942.2:c.1270G>C	12.37:g.64678484C>G	ENSP00000446101:p.Glu424Gln					uc001srx.2_Intron|C12orf56_uc001sry.2_Missense_Mutation_p.E6Q|C12orf56_uc001srz.2_5'UTR	p.E264Q	NM_001099676	NP_001093146	Q8IXR9	CL056_HUMAN	GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)	6	790	-			427						Missense_Mutation	SNP	ENST00000543942.2	37	c.790G>C		.	.	.	.	.	.	.	.	.	.	C	16.08	3.022916	0.54683	.	.	ENSG00000185306	ENST00000333722;ENST00000543942;ENST00000433716	.	.	.	4.29	4.29	0.51040	.	0.066786	0.56097	D	0.000026	T	0.76392	0.3981	M	0.73598	2.24	0.39075	D	0.960785	D;D	0.76494	0.999;0.996	D;D	0.80764	0.994;0.991	T	0.78708	-0.2099	8	.	.	.	-15.2464	12.4453	0.55647	0.0:1.0:0.0:0.0	.	264;427	Q8IXR9-2;Q8IXR9	.;CL056_HUMAN	Q	264;425;427	.	.	E	-	1	0	C12orf56	62964751	1.000000	0.71417	1.000000	0.80357	0.510000	0.34073	3.182000	0.50910	2.402000	0.81655	0.655000	0.94253	GAA		0.373	C12orf56-008	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000401058.2	NM_001099676		6	21	0	0	0	0.001984	0	6	21				
TRHDE	29953	broad.mit.edu	37	12	72893294	72893294	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr12:72893294T>C	ENST00000261180.4	+	6	1562	c.1466T>C	c.(1465-1467)cTg>cCg	p.L489P		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	489					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.L489P(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CAGAGGTTTCTGACCGATGTT	0.448																																							uc001sxa.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(1465-1467)CTG>CCG		thyrotropin-releasing hormone degrading enzyme							165.0	127.0	140.0					12																	72893294		2203	4300	6503	SO:0001583	missense	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:72893294T>C	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.1466T>C	12.37:g.72893294T>C	ENSP00000261180:p.Leu489Pro						p.L489P	NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN			6	1496	+			489			Extracellular (Potential).		A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	c.1466T>C	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	T	14.29	2.492015	0.44352	.	.	ENSG00000072657	ENST00000261180	T	0.03272	3.99	5.25	5.25	0.73442	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.000000	0.64402	D	0.000001	T	0.13030	0.0316	L	0.47190	1.495	0.80722	D	1	D	0.76494	0.999	D	0.71184	0.972	T	0.00617	-1.1642	10	0.87932	D	0	.	15.154	0.72726	0.0:0.0:0.0:1.0	.	489	Q9UKU6	TRHDE_HUMAN	P	489	ENSP00000261180:L489P	ENSP00000261180:L489P	L	+	2	0	TRHDE	71179561	1.000000	0.71417	1.000000	0.80357	0.025000	0.11179	7.977000	0.88081	1.981000	0.57761	0.528000	0.53228	CTG		0.448	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		15	75	0	0	0	0.00245	0	15	75				
NAV3	89795	broad.mit.edu	37	12	78583831	78583831	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr12:78583831G>T	ENST00000397909.2	+	34	6296	c.6123G>T	c.(6121-6123)agG>agT	p.R2041S	NAV3_ENST00000552300.1_3'UTR|NAV3_ENST00000228327.6_Missense_Mutation_p.R2019S|NAV3_ENST00000266692.7_Missense_Mutation_p.R1842S|NAV3_ENST00000536525.2_Missense_Mutation_p.R2019S			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2041						membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.R2019S(2)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TTACCCAAAGGTACTTTAACT	0.348										HNSCC(70;0.22)																													uc001syp.2		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(6121-6123)AGG>AGT		neuron navigator 3							107.0	99.0	101.0					12																	78583831		1926	4151	6077	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78583831G>T	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.6123G>T	12.37:g.78583831G>T	ENSP00000381007:p.Arg2041Ser	HNSCC(70;0.22)				NAV3_uc001syo.2_Missense_Mutation_p.R2019S|NAV3_uc010sub.1_Missense_Mutation_p.R1498S|NAV3_uc009zsf.2_Missense_Mutation_p.R850S	p.R2041S	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			34	6296	+			2041					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.6123G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.84|18.84	3.708725|3.708725	0.68615|0.68615	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788|ENST00000552895	D;D;D;D;D|.	0.88277|.	-2.36;-2.36;-2.36;-2.36;-2.36|.	5.03|5.03	3.2|3.2	0.36748|0.36748	.|.	0.000000|.	0.44688|.	U|.	0.000425|.	T|T	0.66742|0.66742	0.2820|0.2820	M|M	0.79693|0.79693	2.465|2.465	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;0.989;1.0;0.999|.	D;D;D;D|.	0.83275|.	0.992;0.978;0.996;0.994|.	T|T	0.64368|0.64368	-0.6424|-0.6424	10|5	0.87932|.	D|.	0|.	-21.4846|-21.4846	7.4114|7.4114	0.27019|0.27019	0.1488:0.1366:0.7146:0.0|0.1488:0.1366:0.7146:0.0	.|.	2019;1842;2041;2019|.	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2|.	.;.;NAV3_HUMAN;.|.	S|L	2019;2041;2019;1842;633;641|914	ENSP00000446132:R2019S;ENSP00000381007:R2041S;ENSP00000228327:R2019S;ENSP00000266692:R1842S;ENSP00000448303:R641S|.	ENSP00000228327:R2019S|.	R|V	+|+	3|1	2|0	NAV3|NAV3	77107962|77107962	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.596000|1.596000	0.36718|0.36718	0.635000|0.635000	0.30488|0.30488	0.655000|0.655000	0.94253|0.94253	AGG|GTA		0.348	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		8	110	1	0	0.000442599	0.006214	0.000465572	8	110				
FAM71C	196472	broad.mit.edu	37	12	100041984	100041984	+	Missense_Mutation	SNP	C	C	T	rs146401531		TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr12:100041984C>T	ENST00000324341.1	+	1	454	c.32C>T	c.(31-33)aCg>aTg	p.T11M	ANKS1B_ENST00000547776.2_Intron|ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000329257.7_Intron	NM_153364.3	NP_699195.1	Q8NEG0	FA71C_HUMAN	family with sequence similarity 71, member C	11										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)		CCGTATTACACGGCCCAAAGC	0.507																																							uc001tgn.2		NA																	0					0						c.(31-33)ACG>ATG		hypothetical protein LOC196472		C	,MET/THR	1,4405	2.1+/-5.4	0,1,2202	64.0	64.0	64.0		,32	1.9	0.0	12	dbSNP_134	64	0,8600		0,0,4300	no	intron,missense	ANKS1B,FAM71C	NM_152788.4,NM_153364.3	,81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,probably-damaging	,11/242	100041984	1,13005	2203	4300	6503	SO:0001583	missense	196472							g.chr12:100041984C>T		CCDS9072.1	12q23.1	2006-02-03				ENSG00000180219			28594	protein-coding gene	gene with protein product						12477932	Standard	NM_153364		Approved	MGC39520	uc001tgn.3	Q8NEG0		ENST00000324341.1:c.32C>T	12.37:g.100041984C>T	ENSP00000315247:p.Thr11Met					ANKS1B_uc001tge.1_Intron|ANKS1B_uc001tgf.1_Intron|ANKS1B_uc009ztt.1_Intron	p.T11M	NM_153364	NP_699195	Q8NEG0	FA71C_HUMAN		OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)	1	454	+			11					B2R6Y6	Missense_Mutation	SNP	ENST00000324341.1	37	c.32C>T	CCDS9072.1	.	.	.	.	.	.	.	.	.	.	C	13.76	2.334294	0.41297	2.27E-4	0.0	ENSG00000180219	ENST00000324341	T	0.12465	2.68	3.74	1.86	0.25419	.	0.372510	0.24606	N	0.037090	T	0.26484	0.0647	L	0.60455	1.87	0.09310	N	1	D	0.89917	1.0	D	0.73380	0.98	T	0.02378	-1.1168	9	.	.	.	-6.3178	6.8143	0.23822	0.2002:0.6062:0.1937:0.0	.	11	Q8NEG0	FA71C_HUMAN	M	11	ENSP00000315247:T11M	.	T	+	2	0	FAM71C	98566115	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.279000	0.18771	0.543000	0.28864	0.555000	0.69702	ACG		0.507	FAM71C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408458.1	NM_153364		4	94	0	0	0	0.009096	0	4	94				
CCDC60	160777	broad.mit.edu	37	12	119916949	119916949	+	Missense_Mutation	SNP	G	G	A	rs144234053		TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr12:119916949G>A	ENST00000327554.2	+	4	857	c.392G>A	c.(391-393)cGc>cAc	p.R131H	CCDC60_ENST00000546345.1_3'UTR|RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	131								p.R131H(3)		endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GTCACACGTCGCCCATTCACT	0.473													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19421	0.0		0.0	False		,,,				2504	0.0						uc001txe.2		NA																	3	Substitution - Missense(3)	p.R131H(1)	lung(2)|ovary(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(391-393)CGC>CAC		coiled-coil domain containing 60		G	HIS/ARG	0,4406		0,0,2203	224.0	171.0	189.0		392	2.6	0.0	12	dbSNP_134	189	1,8599	1.2+/-3.3	0,1,4299	no	missense	CCDC60	NM_178499.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	131/551	119916949	1,13005	2203	4300	6503	SO:0001583	missense	160777							g.chr12:119916949G>A	BC040553	CCDS9190.1	12q24.23	2006-02-03			ENSG00000183273	ENSG00000183273			28610	protein-coding gene	gene with protein product						12477932	Standard	NM_178499		Approved	MGC39827	uc001txe.3	Q8IWA6	OTTHUMG00000168943	ENST00000327554.2:c.392G>A	12.37:g.119916949G>A	ENSP00000333374:p.Arg131His					uc001txf.2_Intron	p.R131H	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.207)	4	857	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		131						Missense_Mutation	SNP	ENST00000327554.2	37	c.392G>A	CCDS9190.1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.873165	0.33069	0.0	1.16E-4	ENSG00000183273	ENST00000327554	T	0.37411	1.2	4.44	2.62	0.31277	.	0.000000	0.51477	D	0.000083	T	0.27731	0.0682	L	0.52126	1.63	0.09310	N	0.999997	B	0.25667	0.131	B	0.22880	0.042	T	0.14896	-1.0456	9	.	.	.	-7.2754	7.1847	0.25793	0.2043:0.0:0.7957:0.0	.	131	Q8IWA6	CCD60_HUMAN	H	131	ENSP00000333374:R131H	.	R	+	2	0	CCDC60	118401332	0.009000	0.17119	0.026000	0.17262	0.001000	0.01503	0.441000	0.21611	0.612000	0.30071	-0.143000	0.13931	CGC		0.473	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401680.1	NM_178499		5	59	0	0	0	0.001984	0	5	59				
DNAH10	196385	broad.mit.edu	37	12	124323233	124323233	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr12:124323233C>G	ENST00000409039.3	+	28	4804	c.4779C>G	c.(4777-4779)atC>atG	p.I1593M		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1593	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.I185M(2)|p.I1593M(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AGCACATGATCAAGGTCAGCC	0.557																																							uc001uft.3		NA																	4	Substitution - Missense(4)		lung(4)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(4777-4779)ATC>ATG		dynein, axonemal, heavy chain 10							83.0	84.0	83.0					12																	124323233		1981	4165	6146	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124323233C>G	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.4779C>G	12.37:g.124323233C>G	ENSP00000386770:p.Ile1593Met						p.I1593M	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	28	4804	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1593			Stem (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.4779C>G	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	C	16.85	3.236254	0.58886	.	.	ENSG00000197653	ENST00000409039	T	0.61040	0.14	5.69	0.178	0.15058	Dynein heavy chain, domain-2 (1);	0.287528	0.28047	U	0.016804	T	0.73745	0.3626	M	0.88512	2.96	0.54753	D	0.999985	D	0.71674	0.998	D	0.75020	0.985	T	0.72554	-0.4258	10	0.46703	T	0.11	.	8.4852	0.33067	0.5908:0.2915:0.0:0.1177	.	1593	Q8IVF4	DYH10_HUMAN	M	1593	ENSP00000386770:I1593M	ENSP00000386770:I1593M	I	+	3	3	DNAH10	122889186	0.996000	0.38824	1.000000	0.80357	0.824000	0.46624	0.499000	0.22546	0.280000	0.22209	-0.274000	0.10170	ATC		0.557	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			44	159	0	0	0	0.009718	0	44	159				
AMER2	219287	broad.mit.edu	37	13	25743889	25743889	+	Silent	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr13:25743889G>T	ENST00000515384.1	-	1	2536	c.1869C>A	c.(1867-1869)ccC>ccA	p.P623P	AMER2_ENST00000381853.3_Silent_p.P504P|AMER2_ENST00000357816.2_Silent_p.P504P			Q8N7J2	AMER2_HUMAN	APC membrane recruitment protein 2	623					ectoderm development (GO:0007398)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.P623P(2)|p.P504P(2)									GGTGCACCACGGGATGGCTAG	0.562																																							uc001uqb.2		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(2)|large_intestine(1)|lung(1)	4						c.(1867-1869)CCC>CCA		hypothetical protein LOC219287 isoform 1							167.0	151.0	156.0					13																	25743889		2203	4300	6503	SO:0001819	synonymous_variant	219287							g.chr13:25743889G>T	AK055049	CCDS9312.1, CCDS53859.1	13q12.13	2013-10-11	2012-12-03	2012-12-03	ENSG00000165566	ENSG00000165566		"""-"""	26360	protein-coding gene	gene with protein product		614659	"""family with sequence similarity 123A"""	FAM123A		20843316	Standard	XM_005266279		Approved	FLJ25477	uc001uqb.3	Q8N7J2	OTTHUMG00000016602	ENST00000515384.1:c.1869C>A	13.37:g.25743889G>T						FAM123A_uc001uqa.2_Silent_p.P504P|FAM123A_uc001uqc.2_Silent_p.P504P	p.P623P	NM_152704	NP_689917	Q8N7J2	F123A_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	1	1969	-		Lung SC(185;0.0225)|Breast(139;0.0602)	623					Q5RL80|Q5VX56|Q8N593|Q96NN5	Silent	SNP	ENST00000515384.1	37	c.1869C>A	CCDS53859.1																																																																																				0.562	AMER2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000370229.1	NM_152704		53	202	1	0	1.4709e-25	0.00361	1.7958e-25	53	202				
COG3	83548	broad.mit.edu	37	13	46056606	46056606	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr13:46056606C>T	ENST00000349995.5	+	6	827	c.715C>T	c.(715-717)Cat>Tat	p.H239Y		NM_031431.3	NP_113619	Q96JB2	COG3_HUMAN	component of oligomeric golgi complex 3	239					ER to Golgi vesicle-mediated transport (GO:0006888)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)	p.H239Y(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		TATCTCATCTCATGTAAGTCA	0.328																																					Ovarian(150;1048 1859 18083 21577 42700)	Ovarian(150;1048 1859 18083 21577 42700)	uc001vak.2		NA																	2	Substitution - Missense(2)		lung(2)	breast(1)|skin(1)	2						c.(715-717)CAT>TAT		component of golgi transport complex 3							119.0	117.0	118.0					13																	46056606		2203	4294	6497	SO:0001583	missense	83548				ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	cis-Golgi network|Golgi cisterna membrane|Golgi transport complex	protein binding|protein transporter activity	g.chr13:46056606C>T	AF131829	CCDS9398.1	13q14.11	2008-02-05			ENSG00000136152	ENSG00000136152		"""Components of oligomeric golgi complex"""	18619	protein-coding gene	gene with protein product		606975				11980916	Standard	NM_031431		Approved	SEC34	uc001vak.3	Q96JB2	OTTHUMG00000016855	ENST00000349995.5:c.715C>T	13.37:g.46056606C>T	ENSP00000258654:p.His239Tyr					COG3_uc010tfu.1_RNA|COG3_uc001vai.2_Missense_Mutation_p.H239Y|COG3_uc001vaj.1_Missense_Mutation_p.H239Y|COG3_uc010tfv.1_Missense_Mutation_p.H76Y|COG3_uc010aci.2_Missense_Mutation_p.H15Y	p.H239Y	NM_031431	NP_113619	Q96JB2	COG3_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)	6	816	+		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	239					B2RAW5|Q5VT70|Q8IXX4|Q9BZ92	Missense_Mutation	SNP	ENST00000349995.5	37	c.715C>T	CCDS9398.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.161407	0.78226	.	.	ENSG00000136152	ENST00000349995	T	0.60171	0.21	5.33	4.49	0.54785	.	0.000000	0.85682	D	0.000000	T	0.77505	0.4140	M	0.84683	2.71	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.85130	0.997;0.958;0.988	T	0.81362	-0.0967	10	0.87932	D	0	-9.2711	13.2792	0.60205	0.0:0.9233:0.0:0.0767	.	76;239;239	B4E2F3;Q96JB2;Q96JB2-2	.;COG3_HUMAN;.	Y	239	ENSP00000258654:H239Y	ENSP00000258654:H239Y	H	+	1	0	COG3	44954607	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.918000	0.75788	1.259000	0.44117	0.557000	0.71058	CAT		0.328	COG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044777.2			6	62	0	0	0	0.00308	0	6	62				
OLFM4	10562	broad.mit.edu	37	13	53624648	53624648	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr13:53624648G>T	ENST00000219022.2	+	5	1353	c.1275G>T	c.(1273-1275)caG>caT	p.Q425H		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	425	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				cell adhesion (GO:0007155)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein homooligomerization (GO:0051260)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	cadherin binding (GO:0045296)|catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)	p.Q425H(2)		breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		ATACCAAGCAGTATAAACCAT	0.408																																							uc001vhl.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(1273-1275)CAG>CAT		olfactomedin 4 precursor							153.0	134.0	140.0					13																	53624648		2203	4300	6503	SO:0001583	missense	10562				cell adhesion	extracellular space		g.chr13:53624648G>T	AY358567	CCDS9440.1	13q14	2004-06-25			ENSG00000102837	ENSG00000102837			17190	protein-coding gene	gene with protein product		614061					Standard	NM_006418		Approved	OlfD, GW112, GC1	uc001vhl.3	Q6UX06	OTTHUMG00000016981	ENST00000219022.2:c.1275G>T	13.37:g.53624648G>T	ENSP00000219022:p.Gln425His					OLFM4_uc001vhk.1_3'UTR	p.Q425H	NM_006418	NP_006409	Q6UX06	OLFM4_HUMAN		GBM - Glioblastoma multiforme(99;3.13e-08)	5	1275	+		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	425			Olfactomedin-like.		O95362|Q5VWG0|Q86T22	Missense_Mutation	SNP	ENST00000219022.2	37	c.1275G>T	CCDS9440.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.732874	0.69189	.	.	ENSG00000102837	ENST00000219022	D	0.88896	-2.44	5.92	5.07	0.68467	Olfactomedin-like (3);	0.389252	0.29853	N	0.011035	D	0.92782	0.7705	L	0.60455	1.87	0.42686	D	0.993566	D	0.76494	0.999	D	0.70016	0.967	D	0.93260	0.6642	10	0.59425	D	0.04	.	14.9683	0.71213	0.0682:0.0:0.9318:0.0	.	425	Q6UX06	OLFM4_HUMAN	H	425	ENSP00000219022:Q425H	ENSP00000219022:Q425H	Q	+	3	2	OLFM4	52522649	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.787000	0.38704	1.505000	0.48720	0.650000	0.86243	CAG		0.408	OLFM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045112.2	NM_006418		15	133	1	0	4.14922e-12	0.004007	4.77789e-12	15	133				
MYCBP2	23077	broad.mit.edu	37	13	77759506	77759506	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr13:77759506C>G	ENST00000544440.2	-	32	4354	c.4337G>C	c.(4336-4338)gGa>gCa	p.G1446A	MYCBP2_ENST00000407578.2_Missense_Mutation_p.G1484A|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.G1446A					MYC binding protein 2, E3 ubiquitin protein ligase									p.G1446A(4)|p.G1484A(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		AACTGCTTTTCCTGTAGCTTT	0.323																																							uc001vkf.2		NA																	6	Substitution - Missense(6)		lung(6)	ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14						c.(4336-4338)GGA>GCA		MYC binding protein 2							110.0	125.0	120.0					13																	77759506		2203	4299	6502	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77759506C>G	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.4337G>C	13.37:g.77759506C>G	ENSP00000444596:p.Gly1446Ala					MYCBP2_uc010aev.2_Missense_Mutation_p.G850A	p.G1446A	NM_015057	NP_055872	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	33	4428	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	1446						Missense_Mutation	SNP	ENST00000544440.2	37	c.4337G>C		.	.	.	.	.	.	.	.	.	.	C	5.854	0.341784	0.11069	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.26518	1.73;1.73;1.73	5.55	4.69	0.59074	.	0.137346	0.48767	D	0.000170	T	0.11281	0.0275	N	0.08118	0	0.33385	D	0.575309	B	0.02656	0.0	B	0.01281	0.0	T	0.09400	-1.0676	10	0.02654	T	1	.	12.7783	0.57461	0.0:0.5947:0.4053:0.0	.	1446	O75592	MYCB2_HUMAN	A	1446;1484;1446	ENSP00000349892:G1446A;ENSP00000384288:G1484A;ENSP00000444596:G1446A	ENSP00000349892:G1446A	G	-	2	0	MYCBP2	76657507	.	.	1.000000	0.80357	0.963000	0.63663	.	.	2.616000	0.88540	0.491000	0.48974	GGA		0.323	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		42	169	0	0	0	0.002852	0	42	169				
MYCBP2	23077	broad.mit.edu	37	13	77760049	77760049	+	Silent	SNP	C	C	G	rs377177103		TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr13:77760049C>G	ENST00000544440.2	-	31	4304	c.4287G>C	c.(4285-4287)ctG>ctC	p.L1429L	MYCBP2_ENST00000407578.2_Silent_p.L1467L|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Silent_p.L1429L					MYC binding protein 2, E3 ubiquitin protein ligase									p.L1429L(4)|p.L1467L(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GCAATAACCTCAGACAACAGG	0.383																																							uc001vkf.2		NA																	6	Substitution - coding silent(6)		lung(6)	ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14						c.(4285-4287)CTG>CTC		MYC binding protein 2							97.0	83.0	88.0					13																	77760049		2203	4300	6503	SO:0001819	synonymous_variant	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77760049C>G	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.4287G>C	13.37:g.77760049C>G						MYCBP2_uc010aev.2_Silent_p.L833L	p.L1429L	NM_015057	NP_055872	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	32	4378	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	1429						Silent	SNP	ENST00000544440.2	37	c.4287G>C																																																																																					0.383	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		12	71	0	0	0	0.00245	0	12	71				
GPR183	1880	broad.mit.edu	37	13	99947431	99947431	+	Silent	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr13:99947431C>G	ENST00000376414.4	-	2	1052	c.969G>C	c.(967-969)ctG>ctC	p.L323L	UBAC2_ENST00000403766.3_Intron|UBAC2_ENST00000376440.2_Intron	NM_004951.4	NP_004942.1	P32249	GP183_HUMAN	G protein-coupled receptor 183	323					G-protein coupled receptor signaling pathway (GO:0007186)|humoral immune response (GO:0006959)|immune response (GO:0006955)|mature B cell differentiation involved in immune response (GO:0002313)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|oxysterol binding (GO:0008142)	p.L323L(2)		cervix(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	23						CTTGCCGTTTCAGCATCCTCA	0.408																																							uc001vog.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(967-969)CTG>CTC		EBV-induced G protein-coupled receptor 2							135.0	125.0	128.0					13																	99947431		2203	4300	6503	SO:0001819	synonymous_variant	1880				humoral immune response|mature B cell differentiation involved in immune response	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr13:99947431C>G	L08177	CCDS9492.1	13q32.3	2012-08-21	2008-07-21	2008-07-21	ENSG00000169508	ENSG00000169508		"""GPCR / Class A : Orphans"""	3128	protein-coding gene	gene with protein product	"""EBV-induced G-protein coupled receptor 2"""	605741	"""Epstein-Barr virus induced gene 2 (lymphocyte-specific G protein-coupled receptor)"""	EBI2		8383238	Standard	NM_004951		Approved		uc001vog.3	P32249	OTTHUMG00000017263	ENST00000376414.4:c.969G>C	13.37:g.99947431C>G						UBAC2_uc001voa.3_Intron|UBAC2_uc010tiu.1_Intron|UBAC2_uc001vob.3_Intron|UBAC2_uc010tiv.1_Intron|UBAC2_uc001vod.2_Intron|UBAC2_uc001voc.2_Intron|UBAC2_uc010tiw.1_Intron	p.L323L	NM_004951	NP_004942	P32249	GP183_HUMAN			2	1143	-			323			Cytoplasmic (Potential).		B2R8N5|Q53F99|Q5JUH7	Silent	SNP	ENST00000376414.4	37	c.969G>C	CCDS9492.1																																																																																				0.408	GPR183-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045582.2	NM_004951		26	129	0	0	0	0.003954	0	26	129				
CHAMP1	283489	broad.mit.edu	37	13	115090800	115090800	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr13:115090800G>A	ENST00000361283.1	+	3	1792	c.1483G>A	c.(1483-1485)Gag>Aag	p.E495K		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	CHAP1_HUMAN	chromosome alignment maintaining phosphoprotein 1	495	Mediates localization to the spindle and the kinetochore and is required for the attachment of spindle microtubules to the kinetochore.|Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|protein localization to kinetochore (GO:0034501)|protein localization to microtubule (GO:0035372)|sister chromatid biorientation (GO:0031134)	condensed chromosome (GO:0000793)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.E495K(2)									TGTCTTCCCTGAGACCCGAAA	0.493																																							uc010ahb.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1483-1485)GAG>AAG		zinc finger protein 828							154.0	182.0	172.0					13																	115090800		2203	4300	6503	SO:0001583	missense	283489				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding	g.chr13:115090800G>A	AK074894	CCDS9545.1	13q34	2013-01-07	2011-10-07	2011-10-07	ENSG00000198824	ENSG00000198824		"""Zinc fingers, C2H2-type"""	20311	protein-coding gene	gene with protein product	"""chromosome alignment-maintaining phosphoprotein"""		"""chromosome 13 open reading frame 8"", ""zinc finger protein 828"""	C13orf8, ZNF828		21063390	Standard	NM_032436		Approved	CAMP, CHAMP	uc010ahb.3	Q96JM3	OTTHUMG00000017404	ENST00000361283.1:c.1483G>A	13.37:g.115090800G>A	ENSP00000354730:p.Glu495Lys					ZNF828_uc001vuv.2_Missense_Mutation_p.E495K|ZNF828_uc010tko.1_Missense_Mutation_p.E495K	p.E495K	NM_001164144	NP_001157616	Q96JM3	ZN828_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.104)	OV - Ovarian serous cystadenocarcinoma(48;0.193)|Epithelial(10;0.197)	3	1812	+	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_epithelial(44;0.122)|all_lung(25;0.123)	495			Mediates localization to the spindle and the kinetochore and is required for the attachment of spindle microtubules to the kinetochore.|Pro-rich.		B3KU06|Q6P181|Q8NC88|Q9BST0	Missense_Mutation	SNP	ENST00000361283.1	37	c.1483G>A	CCDS9545.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.928870	0.52759	.	.	ENSG00000198824	ENST00000361283	T	0.01787	4.64	5.8	5.8	0.92144	.	0.370856	0.23237	N	0.050390	T	0.05593	0.0147	M	0.65498	2.005	0.44492	D	0.997434	P	0.48503	0.911	P	0.47827	0.558	T	0.39663	-0.9603	9	.	.	.	-5.2583	18.2349	0.89946	0.0:0.0:1.0:0.0	.	495	Q96JM3	ZN828_HUMAN	K	495	ENSP00000354730:E495K	.	E	+	1	0	ZNF828	114108902	1.000000	0.71417	0.966000	0.40874	0.837000	0.47467	4.259000	0.58828	2.741000	0.93983	0.650000	0.86243	GAG		0.493	CHAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045977.2	NM_032436		113	381	0	0	0	0.00361	0	113	381				
MTHFD1	4522	broad.mit.edu	37	14	64882110	64882110	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr14:64882110C>T	ENST00000545908.1	+	5	672	c.443C>T	c.(442-444)tCt>tTt	p.S148F	MTHFD1_ENST00000216605.8_Missense_Mutation_p.S92F			P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	92	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.				folic acid metabolic process (GO:0046655)|folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity (GO:0004486)			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	Tetrahydrofolic acid(DB00116)	AATGAAGACTCTACTGTACAT	0.353																																					Colon(18;220 581 13419 18191 31512)|GBM(126;343 1658 28700 44425 52519)	Colon(18;220 581 13419 18191 31512)|GBM(126;343 1658 28700 44425 52519)	uc001xhb.2		NA																	0				ovary(2)	2						c.(274-276)TCT>TTT		methylenetetrahydrofolate dehydrogenase 1	NADH(DB00157)|Tetrahydrofolic acid(DB00116)						165.0	156.0	159.0					14																	64882110		2203	4300	6503	SO:0001583	missense	4522				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|methylenetetrahydrofolate dehydrogenase|protein binding	g.chr14:64882110C>T	J04031	CCDS9763.1	14q24	2004-12-13			ENSG00000100714	ENSG00000100714	1.5.1.15, 3.5.4.-		7432	protein-coding gene	gene with protein product		172460		MTHFC, MTHFD		3053686, 2786332	Standard	NM_005956		Approved		uc001xhb.3	P11586	OTTHUMG00000141309	ENST00000545908.1:c.443C>T	14.37:g.64882110C>T	ENSP00000438588:p.Ser148Phe					MTHFD1_uc010aqe.2_Missense_Mutation_p.S128F|MTHFD1_uc010aqf.2_Missense_Mutation_p.S148F	p.S92F	NM_005956	NP_005947	P11586	C1TC_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	5	662	+			92			Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.		B2R5Y2|G3V2B8|Q86VC9|Q9BVP5	Missense_Mutation	SNP	ENST00000545908.1	37	c.275C>T		.	.	.	.	.	.	.	.	.	.	C	11.36	1.616440	0.28801	.	.	ENSG00000100714	ENST00000545908;ENST00000555709;ENST00000216605;ENST00000555252	T;T;T;T	0.24350	2.67;2.68;2.67;1.86	4.96	-0.502	0.12004	Tetrahydrofolate dehydrogenase/cyclohydrolase, conserved site (1);Tetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain (1);	0.950864	0.08897	N	0.877831	T	0.32010	0.0815	M	0.85542	2.76	0.09310	N	1	B;B;B	0.13594	0.008;0.001;0.0	B;B;B	0.12837	0.008;0.008;0.003	T	0.40608	-0.9554	10	0.87932	D	0	1.2584	7.0357	0.24993	0.1229:0.6555:0.0:0.2217	.	148;92;92	F5H2F4;P11586;G3V2B8	.;C1TC_HUMAN;.	F	148;92;148;72	ENSP00000438588:S148F;ENSP00000450560:S92F;ENSP00000216605:S148F;ENSP00000451309:S72F	ENSP00000216605:S92F	S	+	2	0	MTHFD1	63951863	0.200000	0.23398	0.002000	0.10522	0.664000	0.39144	1.109000	0.31135	-0.336000	0.08438	0.455000	0.32223	TCT		0.353	MTHFD1-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000412167.1			5	203	0	0	0	0.001168	0	5	203				
NUMB	8650	broad.mit.edu	37	14	73749182	73749182	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr14:73749182G>C	ENST00000355058.3	-	11	1259	c.981C>G	c.(979-981)atC>atG	p.I327M	NUMB_ENST00000356296.4_Missense_Mutation_p.I327M|NUMB_ENST00000559312.1_Intron|NUMB_ENST00000556772.1_Missense_Mutation_p.I183M|NUMB_ENST00000535282.1_Missense_Mutation_p.I316M|NUMB_ENST00000555738.2_Missense_Mutation_p.I218M|NUMB_ENST00000557597.1_Missense_Mutation_p.I316M|NUMB_ENST00000555394.1_Missense_Mutation_p.I327M|NUMB_ENST00000554546.1_Missense_Mutation_p.I316M|NUMB_ENST00000359560.3_Missense_Mutation_p.I316M|NUMB_ENST00000560335.1_Missense_Mutation_p.I229M|NUMB_ENST00000554521.2_Intron|NUMB_ENST00000544991.3_Intron|NUMB_ENST00000454166.4_Missense_Mutation_p.I229M|NUMB_ENST00000555238.1_Missense_Mutation_p.I327M			P49757	NUMB_HUMAN	numb homolog (Drosophila)	327					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|lateral ventricle development (GO:0021670)|lung epithelial cell differentiation (GO:0060487)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of protein localization to plasma membrane (GO:1903077)|neuroblast division in subventricular zone (GO:0021849)|Notch signaling pathway (GO:0007219)|positive regulation of cell migration (GO:0030335)|positive regulation of neurogenesis (GO:0050769)|positive regulation of polarized epithelial cell differentiation (GO:0030862)	apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.I327M(2)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		ACAGGGAGCTGATGCTCTCTG	0.498																																							uc001xny.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(979-981)ATC>ATG		numb homolog isoform 1							168.0	143.0	151.0					14																	73749182		2203	4300	6503	SO:0001583	missense	8650				axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis	integral to plasma membrane		g.chr14:73749182G>C	L40393	CCDS9814.1, CCDS32115.1, CCDS32116.1, CCDS55927.1	14q24.3	2011-11-25	2001-11-28			ENSG00000133961			8060	protein-coding gene	gene with protein product		603728	"""numb (Drosophila) homolog"", ""chromosome 14 open reading frame 41"""	C14orf41			Standard	NM_003744		Approved		uc001xny.1	P49757		ENST00000355058.3:c.981C>G	14.37:g.73749182G>C	ENSP00000347169:p.Ile327Met					NUMB_uc010aro.1_Intron|NUMB_uc010arp.1_Intron|NUMB_uc010arq.1_Missense_Mutation_p.I229M|NUMB_uc010arr.1_Missense_Mutation_p.I218M|NUMB_uc001xoa.1_Missense_Mutation_p.I327M|NUMB_uc001xnz.1_Missense_Mutation_p.I316M|NUMB_uc001xob.1_Missense_Mutation_p.I316M|NUMB_uc001xod.1_Missense_Mutation_p.I327M|NUMB_uc001xoc.1_Missense_Mutation_p.I327M|NUMB_uc010ars.1_Missense_Mutation_p.I316M|NUMB_uc010ttz.1_Missense_Mutation_p.I73M	p.I327M	NM_001005743	NP_001005743	P49757	NUMB_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)	11	1301	-			327					B1P2N5|B1P2N6|B1P2N7|B1P2N8|B1P2N9|B4E2B1|Q6NUQ7|Q86SY1|Q8WW73|Q9UBG1|Q9UEQ4|Q9UKE8|Q9UKE9|Q9UKF0|Q9UQJ4	Missense_Mutation	SNP	ENST00000355058.3	37	c.981C>G	CCDS32116.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.675447	0.67928	.	.	ENSG00000133961	ENST00000554546;ENST00000356296;ENST00000557597;ENST00000555238;ENST00000556772;ENST00000355058;ENST00000359560;ENST00000555394;ENST00000454166;ENST00000555738;ENST00000535282	T;T;T;T;T;T;T;T;T;T;T	0.63913	-0.07;-0.04;0.28;0.27;0.83;0.27;0.28;-0.04;0.12;0.16;0.28	5.41	4.5	0.54988	NUMB domain (1);	0.000000	0.85682	D	0.000000	T	0.71879	0.3392	M	0.66939	2.045	0.58432	D	0.999998	D;D;D;D;D;D;D	0.89917	1.0;0.999;0.999;1.0;1.0;0.999;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.998;0.998;0.999;0.999;0.999;0.998	T	0.73493	-0.3965	10	0.72032	D	0.01	-12.6157	4.6371	0.12530	0.1645:0.0:0.6413:0.1942	.	73;218;229;316;327;316;327	B1P2N9;B1P2N6;B1P2N5;P49757-4;P49757-2;P49757-3;P49757	.;.;.;.;.;.;NUMB_HUMAN	M	316;327;316;327;183;327;316;327;229;218;316	ENSP00000452416:I316M;ENSP00000348644:I327M;ENSP00000451117:I316M;ENSP00000451300:I327M;ENSP00000451513:I183M;ENSP00000347169:I327M;ENSP00000352563:I316M;ENSP00000451625:I327M;ENSP00000394025:I229M;ENSP00000452069:I218M;ENSP00000441258:I316M	ENSP00000347169:I327M	I	-	3	3	NUMB	72818935	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.696000	0.47052	2.810000	0.96702	0.655000	0.94253	ATC		0.498	NUMB-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414416.1			21	88	0	0	0	0.010504	0	21	88				
SAMD15	161394	broad.mit.edu	37	14	77845256	77845256	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr14:77845256G>C	ENST00000216471.4	+	1	1781	c.1495G>C	c.(1495-1497)Gag>Cag	p.E499Q	SAMD15_ENST00000533095.2_Intron|TMED8_ENST00000216468.7_5'Flank	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	499								p.E499Q(2)		breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AGATCCCTCAGAGTCTCAGAC	0.408																																							uc001xtq.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1495-1497)GAG>CAG		hypothetical protein LOC161394							104.0	104.0	104.0					14																	77845256		2203	4300	6503	SO:0001583	missense	161394							g.chr14:77845256G>C	AK093282	CCDS32126.1	14q24.3	2013-01-10	2010-10-20	2010-10-20	ENSG00000100583	ENSG00000100583		"""Sterile alpha motif (SAM) domain containing"""	18631	protein-coding gene	gene with protein product			"""family with sequence similarity 15, member A"", ""chromosome 14 open reading frame 174"""	FAM15A, C14orf174			Standard	XM_006720069		Approved	FLJ35963	uc001xtq.1	Q9P1V8		ENST00000216471.4:c.1495G>C	14.37:g.77845256G>C	ENSP00000216471:p.Glu499Gln					TMED8_uc010ast.1_5'Flank|TMED8_uc001xto.1_5'Flank	p.E499Q	NM_001010860	NP_001010860	Q9P1V8	SAM15_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0278)	1	1495	+			499					Q2M3P3	Missense_Mutation	SNP	ENST00000216471.4	37	c.1495G>C	CCDS32126.1	.	.	.	.	.	.	.	.	.	.	G	13.91	2.379162	0.42207	.	.	ENSG00000100583	ENST00000216471	T	0.25085	1.82	4.44	3.55	0.40652	.	0.833067	0.09794	N	0.754964	T	0.30479	0.0766	L	0.27053	0.805	0.09310	N	1	D	0.64830	0.994	P	0.56278	0.795	T	0.13150	-1.0520	10	0.51188	T	0.08	-0.0614	8.8623	0.35265	0.1087:0.0:0.8913:0.0	.	499	Q9P1V8	SAM15_HUMAN	Q	499	ENSP00000216471:E499Q	ENSP00000216471:E499Q	E	+	1	0	SAMD15	76915009	0.315000	0.24571	0.010000	0.14722	0.065000	0.16274	2.220000	0.42908	1.181000	0.42912	0.561000	0.74099	GAG		0.408	SAMD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394587.2	NM_001010860		21	82	0	0	0	0.002299	0	21	82				
TTC8	123016	broad.mit.edu	37	14	89338775	89338775	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr14:89338775G>A	ENST00000345383.5	+	12	1380	c.1296G>A	c.(1294-1296)atG>atA	p.M432I	TTC8_ENST00000346301.4_Missense_Mutation_p.M402I|TTC8_ENST00000338104.6_Missense_Mutation_p.M458I|TTC8_ENST00000358622.5_Missense_Mutation_p.M244I|TTC8_ENST00000536576.1_Missense_Mutation_p.M203I|TTC8_ENST00000380656.2_Missense_Mutation_p.M442I|TTC8_ENST00000354441.6_Missense_Mutation_p.M177I	NM_198309.2	NP_938051.1	Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8	468					axon guidance (GO:0007411)|camera-type eye photoreceptor cell differentiation (GO:0060219)|cilium assembly (GO:0042384)|establishment of anatomical structure orientation (GO:0048560)|fat cell differentiation (GO:0045444)|multicellular organism growth (GO:0035264)|nonmotile primary cilium assembly (GO:0035058)|olfactory bulb development (GO:0021772)|protein transport (GO:0015031)|regulation of protein localization (GO:0032880)|renal tubule development (GO:0061326)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)	BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)	p.M442I(2)		endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						TGCTGGAGATGCGGAAGGGCC	0.532																																							uc010ath.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1372-1374)ATG>ATA		tetratricopeptide repeat domain 8 isoform B							135.0	113.0	120.0					14																	89338775		2203	4300	6503	SO:0001583	missense	123016	Bardet-Biedl_syndrome			cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding	g.chr14:89338775G>A	AK093891	CCDS9885.1, CCDS9886.1, CCDS32137.1, CCDS73674.1, CCDS73675.1	14q31.3	2013-02-14				ENSG00000165533		"""Tetratricopeptide (TTC) repeat domain containing"""	20087	protein-coding gene	gene with protein product		608132				14520415, 20451172	Standard	NM_144596		Approved	BBS8, RP51	uc001xxi.3	Q8TAM2		ENST00000345383.5:c.1296G>A	14.37:g.89338775G>A	ENSP00000339486:p.Met432Ile					TTC8_uc001xxl.2_Missense_Mutation_p.M203I|TTC8_uc010ati.2_Missense_Mutation_p.M244I|TTC8_uc001xxm.2_Missense_Mutation_p.M402I|TTC8_uc010atj.2_Missense_Mutation_p.M177I|TTC8_uc001xxi.2_Missense_Mutation_p.M442I|TTC8_uc001xxj.2_Missense_Mutation_p.M432I|TTC8_uc001xxk.2_Missense_Mutation_p.M402I	p.M458I	NM_198309	NP_938051	Q8TAM2	TTC8_HUMAN			13	1508	+			468			TPR 8.		A6NFG2|B3KWA5|Q67B97|Q86SY0|Q86TV9|Q86U26|Q8NDH9|Q96DG8	Missense_Mutation	SNP	ENST00000345383.5	37	c.1374G>A	CCDS9885.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	15.83|15.83|15.83	2.948227|2.948227|2.948227	0.53186|0.53186|0.53186	.|.|.	.|.|.	ENSG00000165533|ENSG00000165533|ENSG00000165533	ENST00000557580|ENST00000554686|ENST00000345383;ENST00000536576;ENST00000346301;ENST00000338104;ENST00000354441;ENST00000380656;ENST00000358622	.|.|T;T;T;T;T;T;T	.|.|0.58797	.|.|0.31;0.31;0.31;0.31;0.31;0.31;0.31	5.59|5.59|5.59	5.59|5.59|5.59	0.84812|0.84812|0.84812	.|.|Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	.|.|0.041103	.|.|0.85682	.|.|D	.|.|0.000000	T|T|T	0.48077|0.48077|0.48077	0.1480|0.1480|0.1480	L|L|L	0.28274|0.28274|0.28274	0.84|0.84|0.84	0.54753|0.54753|0.54753	D|D|D	0.99998|0.99998|0.99998	.|.|B;B;B;B;B	.|.|0.34399	.|.|0.452;0.001;0.27;0.001;0.01	.|.|B;B;B;B;B	.|.|0.34931	.|.|0.164;0.012;0.192;0.007;0.007	T|T|T	0.35599|0.35599|0.35599	-0.9782|-0.9782|-0.9782	5|5|10	.|.|0.21540	.|.|T	.|.|0.41	-25.9862|-25.9862|-25.9862	19.96|19.96|19.96	0.97242|0.97242|0.97242	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|.|177;203;468;412;442	.|.|Q8TAM2-2;B3KSL8;Q8TAM2;Q8TAM2-3;Q8TAM2-4	.|.|.;.;TTC8_HUMAN;.;.	T|Y|I	231|392|432;203;402;458;177;442;244	.|.|ENSP00000339486:M432I;ENSP00000445067:M203I;ENSP00000298324:M402I;ENSP00000337653:M458I;ENSP00000346427:M177I;ENSP00000370031:M442I;ENSP00000351439:M244I	.|.|ENSP00000337653:M458I	A|C|M	+|+|+	1|2|3	0|0|0	TTC8|TTC8|TTC8	88408528|88408528|88408528	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.997000|0.997000|0.997000	0.91878|0.91878|0.91878	5.124000|5.124000|5.124000	0.64709|0.64709|0.64709	2.793000|2.793000|2.793000	0.96121|0.96121|0.96121	0.561000|0.561000|0.561000	0.74099|0.74099|0.74099	GCG|TGC|ATG		0.532	TTC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410861.1	NM_144596		35	137	0	0	0	0.005524	0	35	137				
AMN	81693	broad.mit.edu	37	14	103390271	103390271	+	Splice_Site	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr14:103390271G>A	ENST00000299155.5	+	3	195		c.e3-1			NM_030943.3	NP_112205.2	Q9BXJ7	AMNLS_HUMAN	amnion associated transmembrane protein						cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|excretion (GO:0007588)|Golgi to plasma membrane protein transport (GO:0043001)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)	p.?(1)		kidney(2)|large_intestine(1)|lung(2)|skin(1)	6				Colorectal(3;0.00739)|READ - Rectum adenocarcinoma(2;0.0336)|Epithelial(152;0.0363)|all cancers(159;0.147)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCTTCCTGCAGATGGTGTCAG	0.667																																							uc001ymg.3		NA																	1	Unknown(1)		lung(1)		0						c.e3-1		amnionless protein precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						94.0	98.0	97.0					14																	103390271		2203	4300	6503	SO:0001630	splice_region_variant	81693				lipid metabolic process|lipoprotein metabolic process|multicellular organismal development	integral to membrane|plasma membrane		g.chr14:103390271G>A	AF328788	CCDS9977.1	14q32.32	2014-09-17	2012-12-07		ENSG00000166126	ENSG00000166126			14604	protein-coding gene	gene with protein product		605799	"""amnionless homolog (mouse)"""			11279523	Standard	NM_030943		Approved	amnionless	uc001ymg.4	Q9BXJ7		ENST00000299155.5:c.163-1G>A	14.37:g.103390271G>A						AMN_uc001ymh.3_Splice_Site_p.M1_splice	p.M55_splice	NM_030943	NP_112205	Q9BXJ7	AMNLS_HUMAN		Colorectal(3;0.00739)|READ - Rectum adenocarcinoma(2;0.0336)|Epithelial(152;0.0363)|all cancers(159;0.147)	3	196	+								Q6UX83	Splice_Site	SNP	ENST00000299155.5	37	c.163_splice	CCDS9977.1	.	.	.	.	.	.	.	.	.	.	G	9.519	1.107673	0.20714	.	.	ENSG00000166126	ENST00000299155	.	.	.	3.1	3.1	0.35709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.3889	0.44156	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AMN	102460024	0.949000	0.32298	0.977000	0.42913	0.268000	0.26511	2.923000	0.48868	1.678000	0.50952	0.306000	0.20318	.		0.667	AMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415704.1		Intron	45	153	0	0	0	0.00361	0	45	153				
RYR3	6263	broad.mit.edu	37	15	34145245	34145245	+	Splice_Site	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr15:34145245G>T	ENST00000389232.4	+	95	13698		c.e95-1		RYR3_ENST00000415757.3_Splice_Site|RYR3_ENST00000559917.1_Splice_Site|RP11-3D4.3_ENST00000560404.1_RNA	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3						calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.?(2)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TTGTTTTTCAGATCTTTTCCT	0.383																																							uc001zhi.2		NA																	2	Unknown(2)		lung(2)	ovary(5)|central_nervous_system(4)|lung(1)	10						c.e95-1		ryanodine receptor 3							99.0	92.0	94.0					15																	34145245		1858	4090	5948	SO:0001630	splice_region_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34145245G>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.13629-1G>T	15.37:g.34145245G>T						RYR3_uc010bar.2_Splice_Site_p.P4538_splice	p.P4543_splice	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	95	13699	+		all_lung(180;7.18e-09)						O15175|Q15412	Splice_Site	SNP	ENST00000389232.4	37	c.13629_splice	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	19.73	3.881241	0.72294	.	.	ENSG00000198838	ENST00000389232;ENST00000361728	.	.	.	4.88	4.88	0.63580	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5751	0.91151	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RYR3	31932537	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	9.441000	0.97557	2.705000	0.92388	0.650000	0.86243	.		0.383	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1		Intron	5	24	1	0	4.096e-09	0.001168	4.66361e-09	5	24				
TYRO3	7301	broad.mit.edu	37	15	41865997	41865997	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr15:41865997G>C	ENST00000263798.3	+	18	2490	c.2266G>C	c.(2266-2268)Gag>Cag	p.E756Q	TYRO3_ENST00000559066.1_Missense_Mutation_p.E711Q	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	756	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic cell clearance (GO:0043277)|cell adhesion (GO:0007155)|forebrain cell migration (GO:0021885)|natural killer cell differentiation (GO:0001779)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|neuron cellular homeostasis (GO:0070050)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein autophosphorylation (GO:0046777)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.E756Q(2)|p.E748Q(2)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		ACAGCCTCCGGAGTGTATGGA	0.552																																							uc001zof.1		NA																	4	Substitution - Missense(4)		lung(4)	ovary(3)|lung(2)|central_nervous_system(1)	6						c.(2266-2268)GAG>CAG		TYRO3 protein tyrosine kinase precursor							64.0	67.0	66.0					15																	41865997		2203	4300	6503	SO:0001583	missense	7301					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr15:41865997G>C	D50479	CCDS10080.1	15q15.1-q21.1	2013-02-11			ENSG00000092445	ENSG00000092445	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12446	protein-coding gene	gene with protein product		600341		RSE		7851890	Standard	NM_006293		Approved	Dtk, Brt, Tif, Sky	uc001zof.2	Q06418	OTTHUMG00000130341	ENST00000263798.3:c.2266G>C	15.37:g.41865997G>C	ENSP00000263798:p.Glu756Gln						p.E756Q	NM_006293	NP_006284	Q06418	TYRO3_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)	18	2490	+		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)	756			Protein kinase.|Cytoplasmic (Potential).		O14953|Q86VR3	Missense_Mutation	SNP	ENST00000263798.3	37	c.2266G>C	CCDS10080.1	.	.	.	.	.	.	.	.	.	.	G	14.88	2.666810	0.47677	.	.	ENSG00000092445	ENST00000540218;ENST00000263798	D	0.82711	-1.64	5.55	5.55	0.83447	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.334280	0.21468	N	0.074052	D	0.84288	0.5439	N	0.17674	0.51	0.80722	D	1	D	0.56968	0.978	P	0.59012	0.85	D	0.86588	0.1858	10	0.87932	D	0	-13.3059	19.5084	0.95130	0.0:0.0:1.0:0.0	.	756	Q06418	TYRO3_HUMAN	Q	688;756	ENSP00000263798:E756Q	ENSP00000263798:E756Q	E	+	1	0	TYRO3	39653289	1.000000	0.71417	0.956000	0.39512	0.889000	0.51656	9.869000	0.99810	2.612000	0.88384	0.655000	0.94253	GAG		0.552	TYRO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252693.2			31	101	0	0	0	0.009535	0	31	101				
TRPM7	54822	broad.mit.edu	37	15	50891429	50891429	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr15:50891429C>A	ENST00000313478.7	-	22	3334	c.3053G>T	c.(3052-3054)aGa>aTa	p.R1018I	TRPM7_ENST00000560955.1_Missense_Mutation_p.R1018I	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	1018					actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.R1018I(2)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		TATTGCCTTTCTGGGAACACC	0.353																																							uc001zyt.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|stomach(3)|breast(1)|central_nervous_system(1)|skin(1)	10						c.(3052-3054)AGA>ATA		transient receptor potential cation channel,							111.0	110.0	110.0					15																	50891429		1837	4080	5917	SO:0001583	missense	54822				cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity	g.chr15:50891429C>A	AF346629	CCDS42035.1, CCDS73725.1	15q21	2011-12-14				ENSG00000092439		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17994	protein-coding gene	gene with protein product		605692				11161216, 11385574, 16382100	Standard	XM_005254486		Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	Q96QT4		ENST00000313478.7:c.3053G>T	15.37:g.50891429C>A	ENSP00000320239:p.Arg1018Ile					TRPM7_uc010bew.1_Missense_Mutation_p.R1018I	p.R1018I	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN		all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)	22	3317	-			1018			Extracellular (Potential).		Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Missense_Mutation	SNP	ENST00000313478.7	37	c.3053G>T	CCDS42035.1	.	.	.	.	.	.	.	.	.	.	C	31	5.065427	0.93898	.	.	ENSG00000092439	ENST00000313478	D	0.98329	-4.87	5.54	5.54	0.83059	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98994	0.9657	M	0.91249	3.19	0.80722	D	1	D	0.61080	0.989	P	0.57548	0.823	D	0.99709	1.1006	10	0.87932	D	0	-21.6385	19.0714	0.93138	0.0:1.0:0.0:0.0	.	1018	Q96QT4	TRPM7_HUMAN	I	1018	ENSP00000320239:R1018I	ENSP00000320239:R1018I	R	-	2	0	TRPM7	48678721	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.805000	0.86005	2.595000	0.87683	0.603000	0.83216	AGA		0.353	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418604.1	NM_017672		29	113	1	0	1.7367e-05	0.00632	1.89232e-05	29	113				
TTC23	64927	broad.mit.edu	37	15	99696503	99696503	+	Splice_Site	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr15:99696503C>T	ENST00000394132.2	-	12	1811		c.e12-1		AC022819.3_ENST00000563495.1_RNA|TTC23_ENST00000262074.4_Splice_Site|TTC23_ENST00000394129.2_Splice_Site|TTC23_ENST00000558613.1_Splice_Site|TTC23_ENST00000394136.1_Splice_Site|TTC23_ENST00000394135.3_Splice_Site|TTC23_ENST00000394130.1_Splice_Site|TTC23_ENST00000558663.1_Splice_Site			Q5W5X9	TTC23_HUMAN	tetratricopeptide repeat domain 23									p.?(2)		endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			AGGTTGCTCTCTGTGAAAGGA	0.488																																							uc002bur.2		NA																	2	Unknown(2)		lung(2)		0						c.e11-1		tetratricopeptide repeat domain 23							69.0	70.0	70.0					15																	99696503		2197	4297	6494	SO:0001630	splice_region_variant	64927						binding	g.chr15:99696503C>T		CCDS10379.2	15q26.3	2013-01-11			ENSG00000103852	ENSG00000103852		"""Tetratricopeptide (TTC) repeat domain containing"""	25730	protein-coding gene	gene with protein product						12477932	Standard	NM_001288615		Approved	FLJ12572, HCC-8	uc002bux.3	Q5W5X9	OTTHUMG00000147344	ENST00000394132.2:c.994-1G>A	15.37:g.99696503C>T						TTC23_uc002bus.2_Splice_Site_p.R332_splice|TTC23_uc002but.2_Splice_Site_p.R332_splice|TTC23_uc002buu.2_Splice_Site_p.R332_splice|TTC23_uc002buv.2_Splice_Site_p.R332_splice|TTC23_uc002bux.2_Splice_Site_p.R332_splice|TTC23_uc002buw.2_Splice_Site_p.R332_splice|TTC23_uc010boq.2_Splice_Site|TTC23_uc002buy.2_Splice_Site_p.R332_splice|TTC23_uc010bor.2_Splice_Site_p.R332_splice|TTC23_uc002buz.2_Intron	p.R332_splice	NM_022905	NP_075056	Q5W5X9	TTC23_HUMAN	all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)		11	1525	-	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)							A8K6M5|Q53HK0|Q96BC9|Q9H8W9|Q9H9S7	Splice_Site	SNP	ENST00000394132.2	37	c.994_splice	CCDS10379.2	.	.	.	.	.	.	.	.	.	.	C	16.69	3.191858	0.58017	.	.	ENSG00000103852	ENST00000394132;ENST00000394136;ENST00000262074;ENST00000394135;ENST00000434594;ENST00000394130;ENST00000394129	.	.	.	6.07	5.16	0.70880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.3516	0.49592	0.0:0.9172:0.0:0.0828	.	.	.	.	.	-1	.	.	.	-	.	.	TTC23	97514026	1.000000	0.71417	0.805000	0.32314	0.963000	0.63663	4.433000	0.59929	1.578000	0.49821	0.655000	0.94253	.		0.488	TTC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303953.2	NM_022905	Intron	15	50	0	0	0	0.003163	0	15	50				
ZNF597	146434	broad.mit.edu	37	16	3490921	3490921	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr16:3490921A>G	ENST00000301744.4	-	3	281	c.46T>C	c.(46-48)Ttt>Ctt	p.F16L	NAA60_ENST00000407558.4_5'Flank|NAA60_ENST00000573580.1_5'Flank|NAA60_ENST00000608722.1_5'Flank|NAA60_ENST00000424546.2_5'Flank	NM_152457.1	NP_689670.1	Q96LX8	ZN597_HUMAN	zinc finger protein 597	16	KRAB.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.F16L(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						AGATCCTCAAAGAGTATTGGT	0.498																																							uc002cvd.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(46-48)TTT>CTT		zinc finger protein 597							66.0	64.0	65.0					16																	3490921		2197	4300	6497	SO:0001583	missense	146434				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:3490921A>G	AK057633	CCDS10505.1	16p13.3	2013-01-08			ENSG00000167981	ENSG00000167981		"""Zinc fingers, C2H2-type"", ""-"""	26573	protein-coding gene	gene with protein product		614685				12477932	Standard	NM_152457		Approved	FLJ33071	uc002cvd.3	Q96LX8	OTTHUMG00000129359	ENST00000301744.4:c.46T>C	16.37:g.3490921A>G	ENSP00000301744:p.Phe16Leu					NAT15_uc002cvh.3_5'Flank|NAT15_uc010uxb.1_5'Flank	p.F16L	NM_152457	NP_689670	Q96LX8	ZN597_HUMAN			3	230	-			16			KRAB.			Missense_Mutation	SNP	ENST00000301744.4	37	c.46T>C	CCDS10505.1	.	.	.	.	.	.	.	.	.	.	A	16.53	3.148190	0.57151	.	.	ENSG00000167981	ENST00000301744	T	0.07114	3.22	4.27	1.77	0.24775	Krueppel-associated box (3);	0.188038	0.26450	N	0.024320	T	0.12305	0.0299	M	0.78637	2.42	0.18873	N	0.999984	P	0.38300	0.626	B	0.39465	0.3	T	0.08932	-1.0698	10	0.66056	D	0.02	-2.7397	8.1472	0.31119	0.596:0.404:0.0:0.0	.	16	Q96LX8	ZN597_HUMAN	L	16	ENSP00000301744:F16L	ENSP00000301744:F16L	F	-	1	0	ZNF597	3430922	0.308000	0.24509	0.194000	0.23346	0.850000	0.48378	1.055000	0.30467	0.745000	0.32763	0.460000	0.39030	TTT		0.498	ZNF597-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251511.2	NM_152457		16	110	0	0	0	0.003163	0	16	110				
C16orf45	89927	broad.mit.edu	37	16	15677017	15677017	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr16:15677017C>A	ENST00000300006.4	+	5	783	c.424C>A	c.(424-426)Caa>Aaa	p.Q142K	C16orf45_ENST00000565913.1_3'UTR|C16orf45_ENST00000566490.1_Intron|C16orf45_ENST00000561692.1_Missense_Mutation_p.Q94K|C16orf45_ENST00000452191.2_Missense_Mutation_p.Q125K	NM_033201.2	NP_149978.1	Q96MC5	CP045_HUMAN	chromosome 16 open reading frame 45	142								p.Q142K(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)	11						TCACAGGGAGCAAGAAGAAGA	0.378																																							uc002ddo.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(424-426)CAA>AAA		hypothetical protein LOC89927 isoform 1							125.0	123.0	123.0					16																	15677017		2197	4300	6497	SO:0001583	missense	89927							g.chr16:15677017C>A	AK057180	CCDS10561.1, CCDS45422.1	16p13.2	2012-10-09			ENSG00000166780	ENSG00000166780			19213	protein-coding gene	gene with protein product							Standard	NM_033201		Approved	FLJ32618	uc002ddo.3	Q96MC5	OTTHUMG00000129883	ENST00000300006.4:c.424C>A	16.37:g.15677017C>A	ENSP00000300006:p.Gln142Lys					C16orf45_uc002ddp.2_Missense_Mutation_p.Q125K	p.Q142K	NM_033201	NP_149978	Q96MC5	CP045_HUMAN			5	610	+			142					O00223|O75769|Q8IZ36|Q96H25	Missense_Mutation	SNP	ENST00000300006.4	37	c.424C>A	CCDS10561.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.058281	0.36277	.	.	ENSG00000166780	ENST00000300006;ENST00000452191	T;T	0.41758	0.99;0.99	5.27	5.27	0.74061	Domain of unknown function DUF3585 (1);	0.107316	0.64402	D	0.000004	T	0.27205	0.0667	N	0.25144	0.715	0.33286	D	0.5629	B;B	0.13594	0.008;0.001	B;B	0.14023	0.01;0.002	T	0.28902	-1.0029	10	0.13108	T	0.6	-18.0596	11.9387	0.52888	0.2912:0.7088:0.0:0.0	.	86;142	B4DE25;Q96MC5	.;CP045_HUMAN	K	142;125	ENSP00000300006:Q142K;ENSP00000408976:Q125K	ENSP00000300006:Q142K	Q	+	1	0	C16orf45	15584518	0.997000	0.39634	1.000000	0.80357	0.983000	0.72400	1.476000	0.35420	2.434000	0.82447	0.650000	0.86243	CAA		0.378	C16orf45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252130.2	NM_033201		44	224	1	0	3.05275e-18	0.003214	3.68268e-18	44	224				
NPIPB6	728741	broad.mit.edu	37	16	28354090	28354090	+	Silent	SNP	C	C	G	rs609553	byFrequency	TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr16:28354090C>G	ENST00000532254.1	-	7	1801	c.1116G>C	c.(1114-1116)ccG>ccC	p.P372P	NPIPB6_ENST00000533640.1_Silent_p.P354P	NM_001282524.1	NP_001269453.1	E9PJ23	NPIB6_HUMAN	nuclear pore complex interacting protein family, member B6	372																	TCTTGGGTTTCGGTGATTGTT	0.557													.|||	1383	0.276158	0.1611	0.1844	5008	,	,		24065	0.3681		0.2435	False		,,,				2504	0.4356						uc010vcq.1		NA																	0					NA						c.(1060-1062)CCG>CCC		SubName: Full=LOC728741 protein;																																				SO:0001819	synonymous_variant	0							g.chr16:28354090C>G		CCDS61892.1	16p11.2	2013-06-11			ENSG00000198156	ENSG00000198156			37454	protein-coding gene	gene with protein product							Standard	XM_005255741		Approved			E9PJ23	OTTHUMG00000166319	ENST00000532254.1:c.1116G>C	16.37:g.28354090C>G						uc010vcr.1_Silent_p.P372P	p.P354P							7	1115	-									Silent	SNP	ENST00000532254.1	37	c.1062G>C																																																																																					0.557	NPIPB6-002	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000389133.1	XM_001717652		4	8	0	0	0	0.009096	0	4	8				
ZNF668	79759	broad.mit.edu	37	16	31073109	31073109	+	Silent	SNP	C	C	T	rs144972780	byFrequency	TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr16:31073109C>T	ENST00000538906.1	-	3	1924	c.1140G>A	c.(1138-1140)acG>acA	p.T380T	ZNF668_ENST00000300849.4_Silent_p.T380T|ZNF668_ENST00000539836.3_Silent_p.T403T|ZNF668_ENST00000394983.2_Silent_p.T380T|ZNF668_ENST00000535577.1_Silent_p.T380T|ZNF668_ENST00000426488.2_Silent_p.T403T|ZNF668_ENST00000564456.1_5'Flank|ZNF668_ENST00000417110.2_Silent_p.F99F	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	380					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T380T(2)|p.T403T(2)		breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GGCTATGCTTCGTGAGGCTGG	0.672													C|||	5	0.000998403	0.0	0.0	5008	,	,		16948	0.0		0.005	False		,,,				2504	0.0				Colon(181;1111 1980 5060 10512 25785)	Colon(181;1111 1980 5060 10512 25785)	uc010caf.2		NA																	4	Substitution - coding silent(4)		lung(4)	breast(4)	4						c.(1138-1140)ACG>ACA		zinc finger protein 668		C	,,,	2,4392	4.2+/-10.8	0,2,2195	81.0	85.0	84.0		1140,1209,1140,1140	-8.9	0.4	16	dbSNP_134	84	17,8583	11.2+/-40.8	0,17,4283	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ZNF668	NM_001172668.1,NM_001172669.1,NM_001172670.1,NM_024706.4	,,,	0,19,6478	TT,TC,CC		0.1977,0.0455,0.1462	,,,	380/620,403/643,380/620,380/620	31073109	19,12975	2197	4300	6497	SO:0001819	synonymous_variant	79759				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:31073109C>T		CCDS10701.1, CCDS54003.1	16p11.2	2013-01-08			ENSG00000167394	ENSG00000167394		"""Zinc fingers, C2H2-type"""	25821	protein-coding gene	gene with protein product						12477932	Standard	NM_024706		Approved	FLJ13479	uc021tgt.1	Q96K58	OTTHUMG00000047357	ENST00000538906.1:c.1140G>A	16.37:g.31073109C>T						ZNF668_uc002eao.2_Silent_p.T380T	p.T380T	NM_024706	NP_078982	Q96K58	ZN668_HUMAN			3	1497	-			380			C2H2-type 12.		C9JHH8|F5H7E7|Q59EV1|Q8N669|Q9H8L4	Silent	SNP	ENST00000538906.1	37	c.1140G>A	CCDS10701.1																																																																																				0.672	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108516.2	NM_024706		36	320	0	0	0	0.004289	0	36	320				
PHKB	5257	broad.mit.edu	37	16	47723058	47723058	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr16:47723058G>C	ENST00000323584.5	+	27	2761	c.2737G>C	c.(2737-2739)Gat>Cat	p.D913H	PHKB_ENST00000299167.8_Missense_Mutation_p.D913H|PHKB_ENST00000455779.1_Missense_Mutation_p.D906H|PHKB_ENST00000566044.1_Missense_Mutation_p.D906H	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta	913					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)	p.D913H(4)|p.D906H(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				GCTTCTGCTGGATATTCTGCA	0.428																																							uc002eev.3		NA																	6	Substitution - Missense(6)		lung(6)	ovary(1)|large_intestine(1)|breast(1)	3						c.(2737-2739)GAT>CAT		phosphorylase kinase, beta isoform a							96.0	86.0	89.0					16																	47723058		2201	4300	6501	SO:0001583	missense	5257				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity	g.chr16:47723058G>C		CCDS10729.1, CCDS42161.1	16q12-q13	2009-07-10			ENSG00000102893	ENSG00000102893	2.7.11.19		8927	protein-coding gene	gene with protein product		172490					Standard	NM_000293		Approved		uc002eev.4	Q93100	OTTHUMG00000133102	ENST00000323584.5:c.2737G>C	16.37:g.47723058G>C	ENSP00000313504:p.Asp913His					PHKB_uc002eeu.3_Missense_Mutation_p.D906H|PHKB_uc002eew.3_Missense_Mutation_p.D154H	p.D913H	NM_000293	NP_000284	Q93100	KPBB_HUMAN			27	2789	+		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)	913					Q8N4T5	Missense_Mutation	SNP	ENST00000323584.5	37	c.2737G>C	CCDS10729.1	.	.	.	.	.	.	.	.	.	.	G	18.00	3.525729	0.64860	.	.	ENSG00000102893	ENST00000299167;ENST00000455779;ENST00000323584	D;D	0.90385	-2.66;-2.66	5.57	5.57	0.84162	.	0.049905	0.85682	D	0.000000	D	0.86112	0.5855	N	0.21373	0.66	0.80722	D	1	B;P;P	0.51351	0.069;0.573;0.944	B;B;P	0.46362	0.03;0.287;0.514	D	0.85257	0.1048	10	0.32370	T	0.25	-27.7226	14.3987	0.67027	0.0:0.0:0.8524:0.1476	.	154;913;906	B3KVX5;Q93100;Q93100-4	.;KPBB_HUMAN;.	H	906;906;913	ENSP00000414345:D906H;ENSP00000313504:D913H	ENSP00000299167:D906H	D	+	1	0	PHKB	46280559	1.000000	0.71417	0.987000	0.45799	0.617000	0.37484	7.426000	0.80270	2.639000	0.89480	0.650000	0.86243	GAT		0.428	PHKB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000430413.1			23	108	0	0	0	0.002299	0	23	108				
N4BP1	9683	broad.mit.edu	37	16	48594762	48594762	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr16:48594762C>T	ENST00000262384.3	-	2	2028	c.1792G>A	c.(1792-1794)Gat>Aat	p.D598N	RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	598					cellular response to UV (GO:0034644)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein ubiquitination (GO:0031397)	nucleolus (GO:0005730)|PML body (GO:0016605)		p.D598N(2)|p.D645N(2)		breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				TTTAGAGTATCTCGAAACCTT	0.423																																							uc002efp.2		NA																	4	Substitution - Missense(4)		lung(4)		0						c.(1792-1794)GAT>AAT		Nedd4 binding protein 1							127.0	121.0	123.0					16																	48594762		1852	4089	5941	SO:0001583	missense	9683				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body		g.chr16:48594762C>T	AK026937	CCDS45479.1	16q12.1	2008-01-18				ENSG00000102921			29850	protein-coding gene	gene with protein product						9734811, 11717310	Standard	NM_153029		Approved		uc002efp.3	O75113		ENST00000262384.3:c.1792G>A	16.37:g.48594762C>T	ENSP00000262384:p.Asp598Asn						p.D598N	NM_153029	NP_694574	O75113	N4BP1_HUMAN			2	2029	-		all_cancers(37;0.179)|all_lung(18;0.11)	598					A7MD49|Q2YDX1	Missense_Mutation	SNP	ENST00000262384.3	37	c.1792G>A	CCDS45479.1	.	.	.	.	.	.	.	.	.	.	C	14.22	2.470123	0.43839	.	.	ENSG00000102921	ENST00000262384	T	0.44482	0.92	5.93	5.93	0.95920	.	0.215683	0.51477	D	0.000097	T	0.32496	0.0831	L	0.34521	1.04	0.37148	D	0.902033	B	0.28258	0.205	B	0.21546	0.035	T	0.22906	-1.0203	10	0.38643	T	0.18	-34.3243	13.5351	0.61643	0.0:0.9291:0.0:0.0709	.	598	O75113	N4BP1_HUMAN	N	598	ENSP00000262384:D598N	ENSP00000262384:D598N	D	-	1	0	N4BP1	47152263	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	3.753000	0.55180	2.814000	0.96858	0.591000	0.81541	GAT		0.423	N4BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429920.1	NM_014664		23	236	0	0	0	0.00278	0	23	236				
CNOT1	23019	broad.mit.edu	37	16	58580600	58580600	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr16:58580600C>T	ENST00000317147.5	-	28	4136	c.3804G>A	c.(3802-3804)gaG>gaA	p.E1268E	SNORA46_ENST00000384762.1_RNA|CNOT1_ENST00000245138.4_Silent_p.E119E|CNOT1_ENST00000441024.2_Silent_p.E1268E|CNOT1_ENST00000569240.1_Silent_p.E1263E	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1268	Interaction with CNOT6, CNOT6L, CNOT7 and CNOT8.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)	p.E1268E(4)		breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CCTGATGTAGCTCAGCTAATA	0.388																																							uc002env.2		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(4)|central_nervous_system(2)	6						c.(3802-3804)GAG>GAA		CCR4-NOT transcription complex, subunit 1							115.0	106.0	109.0					16																	58580600		2198	4300	6498	SO:0001819	synonymous_variant	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58580600C>T	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.3804G>A	16.37:g.58580600C>T						CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Silent_p.E1263E|CNOT1_uc002enx.2_Silent_p.E1268E|CNOT1_uc010vik.1_Silent_p.E225E	p.E1268E	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	28	4097	-			1268					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Silent	SNP	ENST00000317147.5	37	c.3804G>A	CCDS10799.1																																																																																				0.388	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		7	106	0	0	0	0.00308	0	7	106				
RRAD	6236	broad.mit.edu	37	16	66958740	66958740	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr16:66958740C>G	ENST00000299759.6	-	2	593	c.343G>C	c.(343-345)Gag>Cag	p.E115Q	RRAD_ENST00000420652.1_Missense_Mutation_p.E115Q			P55042	RAD_HUMAN	Ras-related associated with diabetes	115					small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.E115Q(1)		endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		GGCCCGTCCTCCACACCGCCG	0.682																																							uc002eqn.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(343-345)GAG>CAG		Ras-related associated with diabetes							15.0	18.0	17.0					16																	66958740		2196	4286	6482	SO:0001583	missense	6236				small GTPase mediated signal transduction	plasma membrane	calmodulin binding|GTP binding|GTPase activity	g.chr16:66958740C>G	L24564	CCDS10824.1	16q22	2014-05-09			ENSG00000166592	ENSG00000166592			10446	protein-coding gene	gene with protein product		179503				7859947	Standard	NM_004165		Approved	REM3, RAD	uc002eqo.2	P55042	OTTHUMG00000137511	ENST00000299759.6:c.343G>C	16.37:g.66958740C>G	ENSP00000299759:p.Glu115Gln					RRAD_uc002eqo.2_Missense_Mutation_p.E115Q	p.E115Q	NM_001128850	NP_001122322	P55042	RAD_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)	2	495	-		Ovarian(137;0.192)	115					Q96F39	Missense_Mutation	SNP	ENST00000299759.6	37	c.343G>C	CCDS10824.1	.	.	.	.	.	.	.	.	.	.	C	4.717	0.133262	0.09032	.	.	ENSG00000166592	ENST00000420652;ENST00000299759	T;T	0.77489	-1.1;-1.1	4.66	4.66	0.58398	Small GTP-binding protein domain (1);	0.107465	0.64402	D	0.000007	T	0.56746	0.2006	N	0.13272	0.32	0.80722	D	1	P	0.35307	0.494	B	0.26416	0.069	T	0.62435	-0.6855	10	0.02654	T	1	.	17.5583	0.87898	0.0:1.0:0.0:0.0	.	115	P55042	RAD_HUMAN	Q	115	ENSP00000388744:E115Q;ENSP00000299759:E115Q	ENSP00000299759:E115Q	E	-	1	0	RRAD	65516241	0.998000	0.40836	0.754000	0.31244	0.175000	0.22909	3.751000	0.55165	2.125000	0.65367	0.655000	0.94253	GAG		0.682	RRAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268830.1	NM_004165		5	43	0	0	0	0.001168	0	5	43				
TSNAXIP1	55815	broad.mit.edu	37	16	67854848	67854848	+	Missense_Mutation	SNP	G	G	T	rs199807267		TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr16:67854848G>T	ENST00000388833.3	+	3	469	c.92G>T	c.(91-93)cGa>cTa	p.R31L	TSNAXIP1_ENST00000561639.1_Missense_Mutation_p.R85L|TSNAXIP1_ENST00000562321.1_Intron|TSNAXIP1_ENST00000415766.3_Intron	NM_018430.2	NP_060900.2			translin-associated factor X interacting protein 1									p.R31L(2)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		TACCGGAAGCGAGTAGGGTAA	0.597																																							uc002euj.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(91-93)CGA>CTA		translin-associated factor X interacting protein							127.0	129.0	129.0					16																	67854848		1980	4145	6125	SO:0001583	missense	55815				cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm		g.chr16:67854848G>T	AF132730	CCDS10846.2, CCDS73903.1, CCDS73904.1	16q22.2	2008-02-05			ENSG00000102904	ENSG00000102904			18586	protein-coding gene	gene with protein product		607720				12036294	Standard	XM_005256051		Approved	TXI1	uc002euj.3	Q2TAA8	OTTHUMG00000137545	ENST00000388833.3:c.92G>T	16.37:g.67854848G>T	ENSP00000373485:p.Arg31Leu					TSNAXIP1_uc010cep.2_5'UTR|TSNAXIP1_uc010vjz.1_Intron|TSNAXIP1_uc002euf.3_Intron|TSNAXIP1_uc010vka.1_Missense_Mutation_p.R85L|TSNAXIP1_uc010vkb.1_Intron|TSNAXIP1_uc002eug.3_Intron|TSNAXIP1_uc002euh.3_Intron|TSNAXIP1_uc002eui.3_Intron|TSNAXIP1_uc002euk.2_5'Flank	p.R31L	NM_018430	NP_060900	Q2TAA8	TXIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)	3	486	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	31						Missense_Mutation	SNP	ENST00000388833.3	37	c.92G>T	CCDS10846.2	.	.	.	.	.	.	.	.	.	.	G	13.12	2.141618	0.37825	.	.	ENSG00000102904	ENST00000388833	.	.	.	4.99	-2.06	0.07298	.	0.941389	0.08683	N	0.909162	T	0.33000	0.0848	L	0.51422	1.61	0.09310	N	1	P;B	0.35226	0.491;0.275	B;B	0.35931	0.214;0.142	T	0.31833	-0.9929	9	0.46703	T	0.11	-0.0984	5.3749	0.16160	0.4267:0.0:0.4389:0.1344	.	85;31	B4DXD0;Q2TAA8	.;TXIP1_HUMAN	L	31	.	ENSP00000373485:R31L	R	+	2	0	TSNAXIP1	66412349	0.001000	0.12720	0.004000	0.12327	0.004000	0.04260	0.146000	0.16180	-0.178000	0.10672	-0.149000	0.13747	CGA		0.597	TSNAXIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268876.2	NM_018430		54	351	1	0	2.01807e-28	0.00361	2.48378e-28	54	351				
LCAT	3931	broad.mit.edu	37	16	67976321	67976321	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr16:67976321G>C	ENST00000264005.5	-	5	722	c.693C>G	c.(691-693)atC>atG	p.I231M	CTC-479C5.17_ENST00000590594.1_lincRNA	NM_000229.1	NP_000220.1	P04180	LCAT_HUMAN	lecithin-cholesterol acyltransferase	231					cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|high-density lipoprotein particle remodeling (GO:0034375)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein metabolic process (GO:0042157)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|regulation of high-density lipoprotein particle assembly (GO:0090107)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)	apolipoprotein A-I binding (GO:0034186)|phosphatidylcholine-sterol O-acyltransferase activity (GO:0004607)	p.I231M(2)		cervix(4)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)		CCCCAAGAGAGATGAAGCCAT	0.582																																							uc002euy.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(691-693)ATC>ATG		lecithin-cholesterol acyltransferase precursor							59.0	63.0	62.0					16																	67976321		2198	4300	6498	SO:0001583	missense	3931				cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|reverse cholesterol transport|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein A-I binding|phosphatidylcholine-sterol O-acyltransferase activity	g.chr16:67976321G>C		CCDS10854.1	16q22.1	2012-10-02			ENSG00000213398	ENSG00000213398	2.3.1.43		6522	protein-coding gene	gene with protein product		606967					Standard	NM_000229		Approved		uc002euy.1	P04180	OTTHUMG00000137551	ENST00000264005.5:c.693C>G	16.37:g.67976321G>C	ENSP00000264005:p.Ile231Met						p.I231M	NM_000229	NP_000220	P04180	LCAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)	5	704	-		Ovarian(137;0.0563)	231					Q53XQ3	Missense_Mutation	SNP	ENST00000264005.5	37	c.693C>G	CCDS10854.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.341433	0.60963	.	.	ENSG00000213398	ENST00000264005	D	0.96491	-4.03	4.99	2.82	0.32997	.	0.064933	0.64402	U	0.000019	D	0.96703	0.8924	M	0.68952	2.095	0.38044	D	0.935551	D	0.89917	1.0	D	0.81914	0.995	D	0.95925	0.8934	10	0.87932	D	0	-2.4172	4.6015	0.12356	0.1059:0.0:0.4964:0.3976	.	231	P04180	LCAT_HUMAN	M	231	ENSP00000264005:I231M	ENSP00000264005:I231M	I	-	3	3	LCAT	66533822	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.841000	0.39240	1.271000	0.44313	0.561000	0.74099	ATC		0.582	LCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268885.3			12	95	0	0	0	0.000978	0	12	95				
PDPR	55066	broad.mit.edu	37	16	70190452	70190452	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr16:70190452C>T	ENST00000288050.4	+	19	3267	c.2310C>T	c.(2308-2310)ttC>ttT	p.F770F	PDPR_ENST00000542659.1_Silent_p.F115F|RP11-296I10.3_ENST00000566989.1_RNA|PDPR_ENST00000398122.3_Silent_p.F670F|PDPR_ENST00000568530.1_Silent_p.F770F|RP11-296I10.3_ENST00000502126.1_RNA|PDPR_ENST00000562100.1_3'UTR|PDPR_ENST00000567046.1_Silent_p.F128F	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	770					cellular metabolic process (GO:0044237)|glycine catabolic process (GO:0006546)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|oxidoreductase activity (GO:0016491)	p.F770F(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		TCACCATGTTCATCCTGGACG	0.532																																							uc002eyf.1		NA																	2	Substitution - coding silent(2)		lung(2)	breast(1)	1						c.(2308-2310)TTC>TTT		pyruvate dehydrogenase phosphatase regulatory							196.0	218.0	211.0					16																	70190452		2078	4214	6292	SO:0001819	synonymous_variant	55066				glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity	g.chr16:70190452C>T		CCDS45520.1	16q22.1	2010-08-24			ENSG00000090857	ENSG00000090857			30264	protein-coding gene	gene with protein product						9395502	Standard	NM_017990		Approved	PDP3	uc002eyf.1	Q8NCN5		ENST00000288050.4:c.2310C>T	16.37:g.70190452C>T						CLEC18C_uc002exy.2_Intron|PDPR_uc010vlr.1_Silent_p.F670F|PDPR_uc002eyg.1_Silent_p.F437F|PDPR_uc002eyh.2_Silent_p.F115F|PDPR_uc010vls.1_Silent_p.F115F	p.F770F	NM_017990	NP_060460	Q8NCN5	PDPR_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.124)	19	3267	+			770					A7E298|A8K8Y7|B3KSE1|Q6AI20|Q6AWC9	Silent	SNP	ENST00000288050.4	37	c.2310C>T	CCDS45520.1																																																																																				0.532	PDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434502.1	NM_017990		61	262	0	0	0	0.00361	0	61	262				
ZFHX3	463	broad.mit.edu	37	16	72821294	72821294	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr16:72821294C>T	ENST00000268489.5	-	10	11553	c.10881G>A	c.(10879-10881)gcG>gcA	p.A3627A	RP5-991G20.1_ENST00000563328.2_RNA|RP5-991G20.4_ENST00000569195.1_RNA|AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_Silent_p.A2713A	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3627					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.A3627A(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				AAGGGGGCTTCGCTGCCGAAG	0.637																																							uc002fck.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)	4						c.(10879-10881)GCG>GCA		zinc finger homeobox 3 isoform A							24.0	25.0	25.0					16																	72821294		2191	4298	6489	SO:0001819	synonymous_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72821294C>T	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.10881G>A	16.37:g.72821294C>T						uc002fcj.1_Intron|ZFHX3_uc002fcl.2_Silent_p.A2713A	p.A3627A	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN			10	11554	-		Ovarian(137;0.13)	3627					D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	c.10881G>A	CCDS10908.1																																																																																				0.637	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		15	39	0	0	0	0.00499	0	15	39				
BCAR1	9564	broad.mit.edu	37	16	75263784	75263784	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr16:75263784G>A	ENST00000162330.5	-	7	2364	c.2238C>T	c.(2236-2238)ttC>ttT	p.F746F	BCAR1_ENST00000546196.1_Silent_p.F717F|BCAR1_ENST00000538440.2_Silent_p.F746F|BCAR1_ENST00000393420.6_Silent_p.F764F|BCAR1_ENST00000418647.3_Silent_p.F792F|RP11-331F4.4_ENST00000489723.1_RNA|BCAR1_ENST00000420641.3_Silent_p.F764F|BCAR1_ENST00000393422.2_Silent_p.F764F|BCAR1_ENST00000535626.2_Silent_p.F598F|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000542031.2_Silent_p.F744F	NM_001170717.1|NM_014567.3	NP_001164188.1|NP_055382.2	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	746	Divergent helix-loop-helix motif.				actin filament organization (GO:0007015)|antigen receptor-mediated signaling pathway (GO:0050851)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell division (GO:0051301)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epidermal growth factor receptor signaling pathway (GO:0007173)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell migration (GO:0010595)|regulation of apoptotic process (GO:0042981)|regulation of cell growth (GO:0001558)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)	p.F746F(2)|p.F764F(2)|p.F792F(2)		breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		GCTCCAGGTAGAAGAGCAGCA	0.672																																							uc002fdv.2		NA																	6	Substitution - coding silent(6)		lung(6)	central_nervous_system(5)|breast(2)|prostate(1)	8						c.(2236-2238)TTC>TTT		breast cancer anti-estrogen resistance 1							51.0	53.0	52.0					16																	75263784		2198	4300	6498	SO:0001819	synonymous_variant	9564				actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity	g.chr16:75263784G>A	AJ242987	CCDS10915.1, CCDS54037.1, CCDS54038.1, CCDS54039.1, CCDS54040.1, CCDS54041.1, CCDS54042.1, CCDS54043.1	16q22-q23	2011-04-13			ENSG00000050820	ENSG00000050820		"""Cas scaffolding proteins"""	971	protein-coding gene	gene with protein product	"""Crk-associated substrate"", ""Cas scaffolding protein family member 1"""	602941				8413311, 10639512	Standard	NM_001170714		Approved	P130Cas, Crkas, CAS, CASS1	uc010vnb.2	P56945	OTTHUMG00000137604	ENST00000162330.5:c.2238C>T	16.37:g.75263784G>A						BCAR1_uc002fdt.2_Silent_p.F199F|BCAR1_uc002fdu.2_Silent_p.F536F|BCAR1_uc010cgu.2_Silent_p.F735F|BCAR1_uc010vna.1_Silent_p.F744F|BCAR1_uc010vnb.1_Silent_p.F792F|BCAR1_uc002fdw.2_Silent_p.F746F|BCAR1_uc010vnc.1_Silent_p.F598F|BCAR1_uc010vnd.1_Silent_p.F764F|BCAR1_uc002fdx.2_Silent_p.F764F	p.F746F	NM_014567	NP_055382	P56945	BCAR1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	7	2361	-			746			Divergent helix-loop-helix motif.		B3KWD7|B4DEV4|B4DGB5|B4DIW5|B7Z7X7|E9PCL5|E9PCV2|F5GXA2|F5GXV6|F5H7Z0|F8WA69|Q6QEF7	Silent	SNP	ENST00000162330.5	37	c.2238C>T	CCDS10915.1																																																																																				0.672	BCAR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269017.1	NM_014567		18	75	0	0	0	0.008871	0	18	75				
TP53	7157	broad.mit.edu	37	17	7577099	7577099	+	Missense_Mutation	SNP	C	C	G	rs121912660		TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr17:7577099C>G	ENST00000269305.4	-	8	1028	c.839G>C	c.(838-840)aGa>aCa	p.R280T	TP53_ENST00000359597.4_Missense_Mutation_p.R280T|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R280T|TP53_ENST00000455263.2_Missense_Mutation_p.R280T|TP53_ENST00000420246.2_Missense_Mutation_p.R280T	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	280	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1694291}.|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1631151}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R280T(65)|p.R280K(49)|p.R280I(16)|p.0?(8)|p.?(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.D281fs*24(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCGCCGGTCTCTCCCAGGACA	0.542		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		154	Substitution - Missense(130)|Deletion - In frame(8)|Whole gene deletion(8)|Deletion - Frameshift(6)|Unknown(2)	p.R280T(53)|p.R280K(41)|p.R280G(18)|p.R280S(13)|p.R280I(12)|p.R280*(8)|p.R280fs*65(7)|p.0?(7)|p.R280R(3)|p.?(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.A276fs*64(1)|p.G279_R280delGR(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.G279fs*59(1)|p.F270_D281del12(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.D281fs*24(1)|p.V272_K292del21(1)|p.C275fs*20(1)	urinary_tract(50)|breast(22)|lung(20)|upper_aerodigestive_tract(14)|haematopoietic_and_lymphoid_tissue(8)|large_intestine(5)|central_nervous_system(5)|stomach(4)|biliary_tract(4)|oesophagus(4)|skin(4)|ovary(4)|bone(4)|prostate(3)|small_intestine(1)|endometrium(1)|vagina(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM993218	TP53	M	rs121912660	c.(838-840)AGA>ACA	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							77.0	67.0	70.0					17																	7577099		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577099C>G	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.839G>C	17.37:g.7577099C>G	ENSP00000269305:p.Arg280Thr	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R280T|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R148T|TP53_uc010cng.1_Missense_Mutation_p.R148T|TP53_uc002gii.1_Missense_Mutation_p.R148T|TP53_uc010cnh.1_Missense_Mutation_p.R280T|TP53_uc010cni.1_Missense_Mutation_p.R280T|TP53_uc002gij.2_Missense_Mutation_p.R280T	p.R280T	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1033	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	280		R -> T (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> I (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.839G>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	31	5.091761	0.94149	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99866	-7.3;-7.3;-7.3;-7.3;-7.3;-7.3	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99885	0.9945	M	0.92649	3.33	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;0.998;0.992	D;D;D;D	0.97110	0.984;1.0;0.984;0.977	D	0.96400	0.9296	10	0.87932	D	0	-21.0303	16.1198	0.81342	0.0:1.0:0.0:0.0	.	280;280;280;280	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	T	280;280;280;280;280;269;148	ENSP00000352610:R280T;ENSP00000269305:R280T;ENSP00000398846:R280T;ENSP00000391127:R280T;ENSP00000391478:R280T;ENSP00000425104:R148T	ENSP00000269305:R280T	R	-	2	0	TP53	7517824	0.978000	0.34361	1.000000	0.80357	0.980000	0.70556	7.587000	0.82613	2.667000	0.90743	0.462000	0.41574	AGA		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		18	53	0	0	0	0.007413	0	18	53				
FLCN	201163	broad.mit.edu	37	17	17122443	17122443	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr17:17122443C>A	ENST00000285071.4	-	9	1406	c.952G>T	c.(952-954)Gaa>Taa	p.E318*	RP11-45M22.4_ENST00000427497.3_Intron	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin	318					cell-cell junction assembly (GO:0007043)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in kidney development (GO:1901723)|negative regulation of energy homeostasis (GO:2000506)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of gene expression (GO:0010629)|negative regulation of mitochondrion organization (GO:0010823)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of gene expression (GO:0010628)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cytokinesis (GO:0032465)|regulation of histone acetylation (GO:0035065)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|regulation of TOR signaling (GO:0032006)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein complex binding (GO:0032403)	p.E318*(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TCCCGCCCTTCTGTACTCTCT	0.587									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome																														uc002gra.3		NA																	2	Substitution - Nonsense(2)		lung(2)	thyroid(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)	3						c.(952-954)GAA>TAA		folliculin isoform 1							123.0	140.0	134.0					17																	17122443		2203	4300	6503	SO:0001587	stop_gained	201163	Birt-Hogg-Dub__syndrome|Familial_Non-VHL_Clear_Cell_Renal_Cancer	Familial Cancer Database	Familial Clear Cell Renal Cell Cancer, FcRCC, Familial Non-VHL Non-Papillary Clear Cell Renal Cancer;BHD, Fibrofolliculomas with Trichodiscomas and Acrochordons, incl.: Hornstein-Knickenberg syndrome, Perifollicular Fibromatosis	regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding	g.chr17:17122443C>A	AF517523	CCDS32579.1, CCDS32580.1	17p11.2	2014-09-17			ENSG00000154803	ENSG00000154803			27310	protein-coding gene	gene with protein product		607273					Standard	NM_144997		Approved	BHD, MGC17998, MGC23445	uc002gra.4	Q8NFG4	OTTHUMG00000059275	ENST00000285071.4:c.952G>T	17.37:g.17122443C>A	ENSP00000285071:p.Glu318*					PLD6_uc010cpn.2_Intron	p.E318*	NM_144997	NP_659434	Q8NFG4	FLCN_HUMAN			9	1456	-			318					A6NJJ8|Q6ZRX1|Q96BD2|Q96BE4	Nonsense_Mutation	SNP	ENST00000285071.4	37	c.952G>T	CCDS32579.1	.	.	.	.	.	.	.	.	.	.	C	39	7.662682	0.98419	.	.	ENSG00000154803	ENST00000285071	.	.	.	5.97	5.97	0.96955	.	0.277735	0.41500	D	0.000880	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	-11.2538	20.428	0.99075	0.0:1.0:0.0:0.0	.	.	.	.	X	318	.	ENSP00000285071:E318X	E	-	1	0	FLCN	17063168	0.972000	0.33761	0.852000	0.33557	0.066000	0.16364	2.746000	0.47467	2.837000	0.97791	0.655000	0.94253	GAA		0.587	FLCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131577.1	NM_144606		75	290	1	0	6.0678e-26	0.00361	7.43794e-26	75	290				
LGALS9	3965	broad.mit.edu	37	17	25967714	25967714	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr17:25967714G>T	ENST00000395473.2	+	3	1716	c.248G>T	c.(247-249)gGg>gTg	p.G83V	LGALS9_ENST00000310394.5_Missense_Mutation_p.G83V|LGALS9_ENST00000302228.5_Missense_Mutation_p.G83V|LGALS9_ENST00000448970.2_3'UTR|AC015688.3_ENST00000584605.1_3'UTR|LGALS9_ENST00000413914.2_Missense_Mutation_p.G26V|LGALS9_ENST00000313648.6_Missense_Mutation_p.G83V	NM_009587.2	NP_033665.1	O00182	LEG9_HUMAN	lectin, galactoside-binding, soluble, 9	83	Beta-galactoside binding 1.|Galectin 1. {ECO:0000255|PROSITE- ProRule:PRU00639}.				positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|galactose binding (GO:0005534)|signal transducer activity (GO:0004871)	p.G83V(2)		endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		GGAAGCTGGGGGCCCGAGGAG	0.547																																					Melanoma(106;677 1527 28724 29571 46552)|Ovarian(193;263 2088 2118 29005 43023)	Melanoma(106;677 1527 28724 29571 46552)|Ovarian(193;263 2088 2118 29005 43023)	uc002gzp.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(247-249)GGG>GTG		galectin-9 isoform long							151.0	145.0	147.0					17																	25967714		2203	4300	6503	SO:0001583	missense	3965				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	galactose binding|signal transducer activity	g.chr17:25967714G>T	AB006782	CCDS11222.1, CCDS32592.1	17q11.2	2013-03-28	2008-07-25		ENSG00000168961	ENSG00000168961		"""Lectins, galactoside-binding"""	6570	protein-coding gene	gene with protein product	"""galectin 9"""	601879				9045665	Standard	NM_009587		Approved	LGALS9A	uc002gzp.3	O00182	OTTHUMG00000179831	ENST00000395473.2:c.248G>T	17.37:g.25967714G>T	ENSP00000378856:p.Gly83Val					LGALS9_uc002gzq.2_Missense_Mutation_p.G83V|LGALS9_uc002gzr.2_Missense_Mutation_p.G26V|LGALS9_uc010waa.1_Missense_Mutation_p.G26V|LGALS9_uc002gzs.2_Missense_Mutation_p.G83V	p.G83V	NM_009587	NP_033665	O00182	LEG9_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)	3	366	+	Lung NSC(42;0.0103)		83			Galectin 1.|Beta-galactoside binding 1.		A7VJG6|O14532|O75028|Q3B8N1|Q53FQ0|Q9NQ58	Missense_Mutation	SNP	ENST00000395473.2	37	c.248G>T	CCDS11222.1	.	.	.	.	.	.	.	.	.	.	G	13.00	2.107474	0.37145	.	.	ENSG00000168961	ENST00000395473;ENST00000302228;ENST00000310394;ENST00000313648;ENST00000413914;ENST00000448970	T;T;T;T;T	0.18016	2.24;2.24;2.24;2.24;2.24	3.94	3.94	0.45596	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.060405	0.64402	D	0.000003	T	0.53094	0.1775	H	0.95365	3.66	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.998;1.0;1.0	T	0.68610	-0.5363	10	0.87932	D	0	.	13.9103	0.63862	0.0:0.0:1.0:0.0	.	26;83;26;83;83	B4DWP7;F8W9W4;B4DJD7;Q3B8N1;O00182	.;.;.;.;LEG9_HUMAN	V	83;83;83;83;26;83	ENSP00000378856:G83V;ENSP00000306228:G83V;ENSP00000312259:G83V;ENSP00000318214:G83V;ENSP00000393695:G26V	ENSP00000306228:G83V	G	+	2	0	LGALS9	22991841	1.000000	0.71417	0.921000	0.36526	0.029000	0.11900	4.605000	0.61119	2.225000	0.72522	0.586000	0.80456	GGG		0.547	LGALS9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255583.1	NM_009587		57	255	1	0	7.73544e-29	0.00361	9.59827e-29	57	255				
CRHR1	1394	broad.mit.edu	37	17	43912048	43912048	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr17:43912048C>A	ENST00000398285.3	+	14	1253	c.1253C>A	c.(1252-1254)gCc>gAc	p.A418D	CRHR1_ENST00000352855.5_Missense_Mutation_p.A349D|CRHR1_ENST00000314537.5_Missense_Mutation_p.A389D|CRHR1_ENST00000293493.7_Missense_Mutation_p.A214D|CRHR1_ENST00000577353.1_Missense_Mutation_p.A375D|CRHR1_ENST00000339069.5_Missense_Mutation_p.P243T	NM_001145146.1	NP_001138618.1	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	418					activation of adenylate cyclase activity (GO:0007190)|adrenal gland development (GO:0030325)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|behavioral response to pain (GO:0048266)|cellular response to corticotropin-releasing hormone stimulus (GO:0071376)|corticotropin secretion (GO:0051458)|epithelial cell differentiation (GO:0030855)|fear response (GO:0042596)|female pregnancy (GO:0007565)|general adaptation syndrome, behavioral process (GO:0051867)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neuron death (GO:1901215)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neuropeptide signaling pathway (GO:0007218)|parturition (GO:0007567)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mast cell degranulation (GO:0043306)|regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010578)|regulation of corticosterone secretion (GO:2000852)|response to hypoxia (GO:0001666)|response to immobilization stress (GO:0035902)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|vesicle (GO:0031982)	corticotrophin-releasing factor receptor activity (GO:0015056)|corticotropin-releasing hormone binding (GO:0051424)|corticotropin-releasing hormone receptor activity (GO:0043404)	p.A389D(2)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		TCGATCCGTGCCCGAGTGGCC	0.632																																					Ovarian(110;57 1568 10207 38216 49865)	Ovarian(110;57 1568 10207 38216 49865)	uc010dap.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(3)	3						c.(1252-1254)GCC>GAC		corticotropin releasing hormone receptor 1							62.0	76.0	72.0					17																	43912048		2194	4296	6490	SO:0001583	missense	1394				female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	g.chr17:43912048C>A	L23332	CCDS42350.1, CCDS45712.1, CCDS45713.1, CCDS45714.1	17q12-q22	2012-08-14			ENSG00000120088	ENSG00000120088		"""GPCR / Class B : Corticotropin-releasing factor receptors"""	2357	protein-coding gene	gene with protein product	"""corticotropin-releasing factor receptor"""	122561		CRHR		7590738	Standard	NM_004382		Approved	CRF-R, CRF1	uc010dap.3	P34998		ENST00000398285.3:c.1253C>A	17.37:g.43912048C>A	ENSP00000381333:p.Ala418Asp					CRHR1_uc010wjx.1_Missense_Mutation_p.A214D|CRHR1_uc002ijp.2_Missense_Mutation_p.P243T|CRHR1_uc002ijm.2_Missense_Mutation_p.A389D|CRHR1_uc002ijn.2_Missense_Mutation_p.A349D|CRHR1_uc010dar.2_Missense_Mutation_p.A375D|CRHR1_uc010dao.2_Missense_Mutation_p.A288D|CRHR1_uc010daq.2_Missense_Mutation_p.A214D	p.A418D	NM_001145146	NP_001138618	P34998	CRFR1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.161)	14	1518	+	Colorectal(2;0.0416)		418			Cytoplasmic (Potential).		B4DIE9|Q13008|Q4QRJ1|Q9UK64	Missense_Mutation	SNP	ENST00000398285.3	37	c.1253C>A	CCDS45712.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.67|17.67	3.447472|3.447472	0.63178|0.63178	.|.	.|.	ENSG00000120088|ENSG00000120088	ENST00000293493;ENST00000398285;ENST00000314537;ENST00000347197;ENST00000352855|ENST00000339069	T;T;T;T|T	0.44881|0.49720	0.91;1.09;0.95;1.08|0.77	5.24|5.24	4.27|4.27	0.50696|0.50696	.|.	0.205337|.	0.49916|.	D|.	0.000130|.	T|T	0.34832|0.34832	0.0911|0.0911	N|N	0.25647|0.25647	0.755|0.755	0.58432|0.58432	D|D	0.999998|0.999998	P;B;B;P;P|B	0.40553|0.06786	0.721;0.444;0.311;0.534;0.721|0.001	B;B;B;B;B|B	0.42030|0.04013	0.373;0.266;0.097;0.373;0.373|0.001	T|T	0.25606|0.25606	-1.0127|-1.0127	10|9	0.12430|0.87932	T|D	0.62|0	.|.	10.8633|10.8633	0.46839|0.46839	0.0:0.9087:0.0:0.0913|0.0:0.9087:0.0:0.0913	.|.	375;418;288;349;389|243	P34998-4;P34998;B3TIK8;P34998-3;P34998-2|B4DMR5	.;CRFR1_HUMAN;.;.;.|.	D|T	214;418;389;375;349|243	ENSP00000293493:A214D;ENSP00000381333:A418D;ENSP00000326060:A389D;ENSP00000344068:A349D|ENSP00000340522:P243T	ENSP00000293493:A214D|ENSP00000340522:P243T	A|P	+|+	2|1	0|0	CRHR1|CRHR1	41267829|41267829	0.995000|0.995000	0.38212|0.38212	0.955000|0.955000	0.39395|0.39395	0.864000|0.864000	0.49448|0.49448	2.594000|2.594000	0.46189|0.46189	2.451000|2.451000	0.82905|0.82905	0.555000|0.555000	0.69702|0.69702	GCC|CCC		0.632	CRHR1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000441241.3			9	103	1	0	0.00829132	0.008291	0.00857334	9	103				
HOXB1	3211	broad.mit.edu	37	17	46608134	46608134	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr17:46608134C>T	ENST00000239174.6	-	1	225	c.133G>A	c.(133-135)Gag>Aag	p.E45K	HOXB1_ENST00000577092.1_Missense_Mutation_p.E45K	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	45					anatomical structure formation involved in morphogenesis (GO:0048646)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|multicellular organismal development (GO:0007275)|pattern specification process (GO:0007389)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)	p.E45K(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TAGCGGCCCTCGCTTGCATAG	0.682																																							uc002ink.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(133-135)GAG>AAG		homeobox B1							40.0	48.0	45.0					17																	46608134		2203	4300	6503	SO:0001583	missense	3211					nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity	g.chr17:46608134C>T		CCDS32675.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120094	ENSG00000120094		"""Homeoboxes / ANTP class : HOXL subclass"""	5111	protein-coding gene	gene with protein product		142968	"""homeo box B1"""	HOX2, HOX2I		1973146, 1358459	Standard	NM_002144		Approved		uc002ink.1	P14653	OTTHUMG00000159929	ENST00000239174.6:c.133G>A	17.37:g.46608134C>T	ENSP00000355140:p.Glu45Lys						p.E45K	NM_002144	NP_002135	P14653	HXB1_HUMAN			1	139	-			45					Q4VB03	Missense_Mutation	SNP	ENST00000239174.6	37	c.133G>A	CCDS32675.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.383012	0.82792	.	.	ENSG00000120094	ENST00000239174	D	0.88896	-2.44	5.09	4.12	0.48240	.	0.146315	0.31519	N	0.007505	D	0.84365	0.5456	L	0.46157	1.445	0.52099	D	0.999942	B	0.28026	0.198	B	0.16722	0.016	T	0.83202	-0.0078	10	0.66056	D	0.02	.	13.1074	0.59255	0.0:0.922:0.0:0.078	.	45	P14653	HXB1_HUMAN	K	45	ENSP00000355140:E45K	ENSP00000355140:E45K	E	-	1	0	HOXB1	43963133	1.000000	0.71417	0.960000	0.40013	0.941000	0.58515	5.205000	0.65186	1.373000	0.46208	0.551000	0.68910	GAG		0.682	HOXB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358383.3			38	109	0	0	0	0.00623	0	38	109				
BCAS3	54828	broad.mit.edu	37	17	58946004	58946004	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr17:58946004C>G	ENST00000390652.5	+	8	575	c.544C>G	c.(544-546)Caa>Gaa	p.Q182E	BCAS3_ENST00000407086.3_Missense_Mutation_p.Q182E|BCAS3_ENST00000589222.1_Missense_Mutation_p.Q182E|BCAS3_ENST00000588462.1_Missense_Mutation_p.Q182E|BCAS3_ENST00000408905.3_Missense_Mutation_p.Q182E	NM_001099432.1	NP_001092902.1			breast carcinoma amplified sequence 3									p.Q182E(2)		NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			CAAGTCCATTCAATTTAAGAC	0.373																																							uc002iyv.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(2)|skin(1)	5						c.(544-546)CAA>GAA		breast carcinoma amplified sequence 3 isoform 1							143.0	131.0	135.0					17																	58946004		1839	4088	5927	SO:0001583	missense	54828					nucleus		g.chr17:58946004C>G	AF361219	CCDS11626.1, CCDS45749.1	17q23.2	2013-06-25			ENSG00000141376	ENSG00000141376		"""WD repeat domain containing"""	14347	protein-coding gene	gene with protein product		607470				12378525	Standard	NM_017679		Approved	FLJ20128	uc002iyv.4	Q9H6U6	OTTHUMG00000180064	ENST00000390652.5:c.544C>G	17.37:g.58946004C>G	ENSP00000375067:p.Gln182Glu					BCAS3_uc010wow.1_Intron|BCAS3_uc002iyu.3_Missense_Mutation_p.Q182E|BCAS3_uc002iyw.3_Missense_Mutation_p.Q178E	p.Q182E	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)		8	653	+			182						Missense_Mutation	SNP	ENST00000390652.5	37	c.544C>G	CCDS45749.1	.	.	.	.	.	.	.	.	.	.	C	18.45	3.626984	0.66901	.	.	ENSG00000141376	ENST00000390652;ENST00000407086;ENST00000405070;ENST00000408905	T;T;T	0.04862	3.54;3.54;3.54	5.72	5.72	0.89469	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.11024	0.0269	L	0.50333	1.59	0.80722	D	1	P;P;P	0.51933	0.949;0.61;0.73	B;B;B	0.43575	0.424;0.19;0.35	T	0.00684	-1.1611	10	0.72032	D	0.01	.	18.6859	0.91563	0.0:1.0:0.0:0.0	.	182;182;182	Q9H6U6-7;Q9H6U6;Q9H6U6-2	.;BCAS3_HUMAN;.	E	182	ENSP00000375067:Q182E;ENSP00000385323:Q182E;ENSP00000386173:Q182E	ENSP00000375067:Q182E	Q	+	1	0	BCAS3	56300786	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.199000	0.77831	2.698000	0.92095	0.645000	0.84053	CAA		0.373	BCAS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449578.1	NM_017679		23	81	0	0	0	0.00632	0	23	81				
TLK2	11011	broad.mit.edu	37	17	60613585	60613585	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr17:60613585A>G	ENST00000326270.9	+	7	686	c.418A>G	c.(418-420)Acg>Gcg	p.T140A	TLK2_ENST00000346027.5_Missense_Mutation_p.T140A|TLK2_ENST00000582809.1_5'UTR|TLK2_ENST00000542523.1_Missense_Mutation_p.T108A|TLK2_ENST00000343388.7_Missense_Mutation_p.T108A	NM_001284333.1	NP_001271262.1	Q86UE8	TLK2_HUMAN	tousled-like kinase 2	140					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|negative regulation of autophagy (GO:0010507)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	intermediate filament (GO:0005882)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.T140A(4)|p.T139A(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						AAAGGAGGCAACGGAGGAGCA	0.512																																							uc010ddp.2		NA																	6	Substitution - Missense(6)		lung(6)	stomach(1)|kidney(1)	2						c.(418-420)ACG>GCG		tousled-like kinase 2 isoform A							58.0	56.0	57.0					17																	60613585		2203	4297	6500	SO:0001583	missense	11011				cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr17:60613585A>G	AB004884	CCDS11633.1, CCDS45753.1, CCDS62283.1	17q23	2008-07-18							11842	protein-coding gene	gene with protein product		608439				9427565, 10523312	Standard	NM_006852		Approved	PKU-ALPHA, MGC44450	uc002izz.4	Q86UE8		ENST00000326270.9:c.418A>G	17.37:g.60613585A>G	ENSP00000316512:p.Thr140Ala					TLK2_uc002izx.3_5'UTR|TLK2_uc002izz.3_Missense_Mutation_p.T140A|TLK2_uc002jaa.3_Missense_Mutation_p.T108A|TLK2_uc010wpd.1_Missense_Mutation_p.T108A	p.T140A	NM_006852	NP_006843	Q86UE8	TLK2_HUMAN			7	686	+			140					D3DU07|Q9UKI7|Q9Y4F7	Missense_Mutation	SNP	ENST00000326270.9	37	c.418A>G		.	.	.	.	.	.	.	.	.	.	A	2.506	-0.313985	0.05422	.	.	ENSG00000146872	ENST00000346027;ENST00000343388;ENST00000326270;ENST00000542523	T;T;T;T	0.63744	-0.06;-0.0;-0.06;-0.0	5.2	-3.24	0.05094	.	1.394820	0.04819	N	0.436662	T	0.31827	0.0809	N	0.08118	0	0.09310	N	1	B;B;B	0.12630	0.004;0.0;0.006	B;B;B	0.09377	0.002;0.001;0.004	T	0.08973	-1.0696	10	0.13108	T	0.6	.	0.4895	0.00562	0.3034:0.2277:0.2843:0.1846	.	140;108;140	Q86UE8;Q86UE8-3;Q86UE8-2	TLK2_HUMAN;.;.	A	140;108;140;108	ENSP00000275780:T140A;ENSP00000340800:T108A;ENSP00000316512:T140A;ENSP00000442311:T108A	ENSP00000316512:T140A	T	+	1	0	TLK2	57967317	0.000000	0.05858	0.000000	0.03702	0.065000	0.16274	-0.112000	0.10791	-0.468000	0.06922	-1.251000	0.01509	ACG		0.512	TLK2-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000445140.1	NM_006852		18	75	0	0	0	0.006122	0	18	75				
CACNG4	27092	broad.mit.edu	37	17	65027117	65027117	+	Silent	SNP	G	G	T	rs372305572		TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr17:65027117G>T	ENST00000262138.3	+	4	983	c.981G>T	c.(979-981)gtG>gtT	p.V327V	AC005544.1_ENST00000375684.1_5'Flank|RP11-74H8.1_ENST00000579138.1_RNA	NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	327					membrane depolarization (GO:0051899)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.V327V(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			CGACCCCTGTGTGAGCCGCCT	0.572																																							uc002jft.1		NA																	2	Substitution - coding silent(2)		lung(2)	central_nervous_system(1)	1						c.(979-981)GTG>GTT		voltage-dependent calcium channel gamma-4							42.0	42.0	42.0					17																	65027117		2201	4296	6497	SO:0001819	synonymous_variant	27092				membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity	g.chr17:65027117G>T	AH008289	CCDS11667.1	17q24	2006-01-23				ENSG00000075461		"""Calcium channel subunits"""	1408	protein-coding gene	gene with protein product		606404				10613843	Standard	NM_014405		Approved	MGC11138, MGC24983	uc002jft.2	Q9UBN1		ENST00000262138.3:c.981G>T	17.37:g.65027117G>T							p.V327V	NM_014405	NP_055220	Q9UBN1	CCG4_HUMAN	BRCA - Breast invasive adenocarcinoma(6;1.35e-07)		4	996	+	all_cancers(12;9.86e-11)		327			Cytoplasmic (Potential).		B2RCK0	Silent	SNP	ENST00000262138.3	37	c.981G>T	CCDS11667.1																																																																																				0.572	CACNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447036.1	NM_014405		23	106	1	0	3.28513e-13	0.003954	3.81175e-13	23	106				
FAM20A	54757	broad.mit.edu	37	17	66533706	66533706	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr17:66533706A>G	ENST00000592554.1	-	11	2260	c.1538T>C	c.(1537-1539)aTa>aCa	p.I513T	FAM20A_ENST00000226094.5_5'UTR|PRKAR1A_ENST00000588188.2_Intron	NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	Q96MK3	FA20A_HUMAN	family with sequence similarity 20, member A	513					calcium ion homeostasis (GO:0055074)|enamel mineralization (GO:0070166)|tooth eruption (GO:0044691)	cell (GO:0005623)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9	Breast(10;1.64e-13)					ATGGGCCACTATGCACCCCTC	0.587																																							uc002jho.2		NA																	0					0						c.(1537-1539)ATA>ACA		family with sequence similarity 20, member A							99.0	74.0	82.0					17																	66533706		2203	4300	6503	SO:0001583	missense	54757					extracellular region		g.chr17:66533706A>G	AK056789	CCDS11679.1	17q24.2	2014-02-07			ENSG00000108950	ENSG00000108950			23015	protein-coding gene	gene with protein product		611062					Standard	NM_017565		Approved	DKFZp434F2322	uc002jho.3	Q96MK3	OTTHUMG00000180152	ENST00000592554.1:c.1538T>C	17.37:g.66533706A>G	ENSP00000468308:p.Ile513Thr					FAM20A_uc010wqp.1_Missense_Mutation_p.I375T|PRKAR1A_uc002jhm.2_Intron|FAM20A_uc002jhn.2_Missense_Mutation_p.I224T	p.I513T	NM_017565	NP_060035	Q96MK3	FA20A_HUMAN			11	1826	-	Breast(10;1.64e-13)		513					B2RN47|B2RN49|Q9UF95	Missense_Mutation	SNP	ENST00000592554.1	37	c.1538T>C	CCDS11679.1	.	.	.	.	.	.	.	.	.	.	A	16.59	3.166078	0.57476	.	.	ENSG00000108950	ENST00000226094;ENST00000375556	.	.	.	5.81	5.81	0.92471	.	0.566047	0.20732	N	0.086684	T	0.71358	0.3330	M	0.80183	2.485	0.40671	D	0.982214	P;B	0.40578	0.722;0.338	P;B	0.45276	0.475;0.158	T	0.74668	-0.3588	9	0.48119	T	0.1	-2.4038	16.1599	0.81698	1.0:0.0:0.0:0.0	.	513;368	Q96MK3;B7Z4Y3	FA20A_HUMAN;.	T	513;117	.	ENSP00000226094:I513T	I	-	2	0	FAM20A	64045301	0.987000	0.35691	0.073000	0.20177	0.168000	0.22595	7.135000	0.77276	2.212000	0.71576	0.454000	0.30748	ATA		0.587	FAM20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450029.2	NM_017565		3	81	0	0	0	0.004672	0	3	81				
SMAD4	4089	broad.mit.edu	37	18	48575671	48575671	+	Nonsense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr18:48575671C>G	ENST00000342988.3	+	4	969	c.431C>G	c.(430-432)tCa>tGa	p.S144*	SMAD4_ENST00000452201.2_Nonsense_Mutation_p.S144*|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.S144*|SMAD4_ENST00000588745.1_Nonsense_Mutation_p.S144*|RP11-729L2.2_ENST00000590722.2_3'UTR	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	144					atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.S144*(5)|p.?(4)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TAAGATCTCTCAGGATTAACA	0.294																																							uc010xdp.1		NA																	45	Whole gene deletion(36)|Substitution - Nonsense(5)|Unknown(4)	p.0?(35)|p.?(4)|p.S144*(2)	pancreas(26)|lung(4)|breast(4)|large_intestine(3)|stomach(3)|upper_aerodigestive_tract(2)|skin(1)|oesophagus(1)|NS(1)	pancreas(170)|large_intestine(108)|thyroid(19)|lung(11)|small_intestine(9)|upper_aerodigestive_tract(8)|biliary_tract(8)|ovary(7)|breast(6)|stomach(5)|oesophagus(3)|testis(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|kidney(1)|urinary_tract(1)|vulva(1)|skin(1)|NS(1)	369						c.(430-432)TCA>TGA		mothers against decapentaplegic homolog 4							182.0	163.0	169.0					18																	48575671		2202	4298	6500	SO:0001587	stop_gained	4089	Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia			BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48575671C>G	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.431C>G	18.37:g.48575671C>G	ENSP00000341551:p.Ser144*					SMAD4_uc010xdo.1_RNA	p.S144*	NM_005359	NP_005350	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	4	969	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	144					A8K405	Nonsense_Mutation	SNP	ENST00000342988.3	37	c.431C>G	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	C	42	9.517242	0.99193	.	.	ENSG00000141646	ENST00000452201;ENST00000342988;ENST00000544926;ENST00000398417	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	19.1014	0.93275	0.0:1.0:0.0:0.0	.	.	.	.	X	144	.	ENSP00000341551:S144X	S	+	2	0	SMAD4	46829669	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.885000	0.63142	2.810000	0.96702	0.585000	0.79938	TCA		0.294	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359		12	45	0	0	0	0.00245	0	12	45				
MUC16	94025	broad.mit.edu	37	19	9068944	9068944	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr19:9068944C>G	ENST00000397910.4	-	3	18705	c.18502G>C	c.(18502-18504)Ggc>Cgc	p.G6168R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6170	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.G6168R(4)|p.G1801R(2)		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						GTCAGTTGGCCAAGAGATGTC	0.488																																							uc002mkp.2		NA																	6	Substitution - Missense(6)		lung(6)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(18502-18504)GGC>CGC		mucin 16							80.0	85.0	83.0					19																	9068944		2125	4237	6362	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9068944C>G	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.18502G>C	19.37:g.9068944C>G	ENSP00000381008:p.Gly6168Arg						p.G6168R	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	18706	-			6170			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.18502G>C	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	1.407	-0.576537	0.03854	.	.	ENSG00000181143	ENST00000397910	T	0.24723	1.84	1.24	-1.13	0.09775	.	.	.	.	.	T	0.16896	0.0406	L	0.43152	1.355	.	.	.	B	0.31383	0.321	B	0.25405	0.06	T	0.18777	-1.0326	8	0.87932	D	0	.	3.9809	0.09495	0.0:0.5351:0.0:0.4649	.	6168	B5ME49	.	R	6168	ENSP00000381008:G6168R	ENSP00000381008:G6168R	G	-	1	0	MUC16	8929944	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.902000	0.01596	-0.292000	0.08999	-0.552000	0.04208	GGC		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		23	76	0	0	0	0.002299	0	23	76				
CD97	976	broad.mit.edu	37	19	14507264	14507264	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr19:14507264G>C	ENST00000242786.5	+	5	537	c.457G>C	c.(457-459)Gag>Cag	p.E153Q	CD97_ENST00000587728.1_Intron|CD97_ENST00000357355.3_Missense_Mutation_p.E153Q|CD97_ENST00000358600.3_Intron	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	153	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)	p.E153Q(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GTTCATACCTGAGGATCCGAA	0.597																																							uc002myl.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|breast(1)	4						c.(457-459)GAG>CAG		CD97 antigen isoform 1 precursor							126.0	101.0	110.0					19																	14507264		2203	4300	6503	SO:0001583	missense	976				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr19:14507264G>C		CCDS32929.1, CCDS32930.1, CCDS32931.1	19p13	2014-08-08	2006-03-28			ENSG00000123146		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	1711	protein-coding gene	gene with protein product	"""leukocyte antigen CD97"", ""seven-span transmembrane protein"", ""seven-transmembrane, heterodimeric receptor associated with inflammation"", ""seven transmembrane helix receptor"""	601211	"""CD97 antigen"""			7636245, 8786105	Standard	NM_078481		Approved	TM7LN1	uc002myl.3	P48960		ENST00000242786.5:c.457G>C	19.37:g.14507264G>C	ENSP00000242786:p.Glu153Gln					CD97_uc002mym.2_Missense_Mutation_p.E153Q|CD97_uc002myn.2_Intron	p.E153Q	NM_078481	NP_510966	P48960	CD97_HUMAN			5	580	+			153			Extracellular (Potential).|EGF-like 3; calcium-binding (Potential).		A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	Missense_Mutation	SNP	ENST00000242786.5	37	c.457G>C	CCDS32929.1	.	.	.	.	.	.	.	.	.	.	g	7.252	0.603480	0.14002	.	.	ENSG00000123146	ENST00000242786;ENST00000357355;ENST00000393059	D;D	0.92495	-3.05;-3.05	4.09	-7.88	0.01178	EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.79458	0.4449	N	0.14661	0.345	0.09310	N	1	B;B	0.33318	0.033;0.408	B;B	0.34489	0.015;0.184	T	0.70561	-0.4838	9	0.19147	T	0.46	.	7.1335	0.25515	0.5891:0.2527:0.1582:0.0	.	153;153	P48960-3;P48960	.;CD97_HUMAN	Q	153;153;152	ENSP00000242786:E153Q;ENSP00000349918:E153Q	ENSP00000242786:E153Q	E	+	1	0	CD97	14368264	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.740000	0.01839	-1.458000	0.01916	-1.359000	0.01217	GAG		0.597	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459821.2	NM_078481		14	80	0	0	0	0.00278	0	14	80				
OR7A5	26659	broad.mit.edu	37	19	14938176	14938176	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr19:14938176C>A	ENST00000322301.3	-	2	965	c.878G>T	c.(877-879)aGg>aTg	p.R293M	OR7A5_ENST00000601611.1_Intron|OR7A5_ENST00000594432.1_Missense_Mutation_p.R293M			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	293					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R293M(2)		breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						GTCTTTATTCCTCAGACTATA	0.468																																							uc002mzw.2		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)	2						c.(877-879)AGG>ATG		olfactory receptor, family 7, subfamily A,							75.0	73.0	74.0					19																	14938176		2203	4300	6503	SO:0001583	missense	26659				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:14938176C>A	X64976	CCDS12318.1	19p13.1	2012-08-09	2003-12-09			ENSG00000188269		"""GPCR / Class A : Olfactory receptors"""	8368	protein-coding gene	gene with protein product			"""olfactory receptor, family 7, subfamily A, member 5 pseudogene"""				Standard	XM_006722722		Approved	HTPCR2	uc002mzw.3	Q15622		ENST00000322301.3:c.878G>T	19.37:g.14938176C>A	ENSP00000316955:p.Arg293Met					OR7A5_uc010xoa.1_Missense_Mutation_p.R293M	p.R293M	NM_017506	NP_059976	Q15622	OR7A5_HUMAN			1	1101	-			293			Cytoplasmic (Potential).		B2R682|Q6IFP1|Q96R96	Missense_Mutation	SNP	ENST00000322301.3	37	c.878G>T	CCDS12318.1	.	.	.	.	.	.	.	.	.	.	c	13.28	2.189746	0.38707	.	.	ENSG00000188269	ENST00000322301	T	0.38240	1.15	3.12	3.12	0.35913	.	.	.	.	.	T	0.55561	0.1928	M	0.79475	2.455	0.28639	N	0.907262	D	0.89917	1.0	D	0.73380	0.98	T	0.48258	-0.9051	9	0.87932	D	0	.	6.3857	0.21559	0.0:0.8619:0.0:0.1381	.	293	Q15622	OR7A5_HUMAN	M	293	ENSP00000316955:R293M	ENSP00000316955:R293M	R	-	2	0	OR7A5	14799176	0.019000	0.18553	0.962000	0.40283	0.499000	0.33736	1.787000	0.38704	1.803000	0.52742	0.121000	0.15741	AGG		0.468	OR7A5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466518.1	NM_017506		25	89	1	0	5.61819e-17	0.005443	6.72413e-17	25	89				
MAST3	23031	broad.mit.edu	37	19	18255868	18255868	+	Silent	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr19:18255868G>T	ENST00000262811.6	+	23	2781	c.2781G>T	c.(2779-2781)tcG>tcT	p.S927S	AC007192.6_ENST00000600364.2_RNA	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	927	Ser-rich.						ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.S949S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						CTCTGTCCTCGAACCCGTCGT	0.667																																							uc002nhz.3		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|ovary(2)|stomach(1)	5						c.(2779-2781)TCG>TCT		microtubule associated serine/threonine kinase							42.0	47.0	46.0					19																	18255868		1955	4137	6092	SO:0001819	synonymous_variant	23031						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr19:18255868G>T	AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.2781G>T	19.37:g.18255868G>T							p.S927S	NM_015016	NP_055831	O60307	MAST3_HUMAN			23	2781	+			927			Ser-rich.		Q7LDZ8|Q9UPI0	Silent	SNP	ENST00000262811.6	37	c.2781G>T	CCDS46014.1																																																																																				0.667	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466526.2	XM_038150		15	45	1	0	1.49906e-05	0.00245	1.63926e-05	15	45				
TSHZ3	57616	broad.mit.edu	37	19	31768409	31768409	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr19:31768409C>A	ENST00000240587.4	-	2	2617	c.2290G>T	c.(2290-2292)Gcc>Tcc	p.A764S		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	764					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A581S(2)|p.A764S(2)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GGCGGGGTGGCCACAGCAGCC	0.602																																							uc002nsy.3		NA																	4	Substitution - Missense(4)		lung(4)	ovary(4)|skin(2)|pancreas(1)|lung(1)	8						c.(2290-2292)GCC>TCC		zinc finger protein 537							65.0	64.0	65.0					19																	31768409		2203	4300	6503	SO:0001583	missense	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31768409C>A	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.2290G>T	19.37:g.31768409C>A	ENSP00000240587:p.Ala764Ser						p.A764S	NM_020856	NP_065907	Q63HK5	TSH3_HUMAN			2	2355	-	Esophageal squamous(110;0.226)		764					Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	c.2290G>T	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	C	10.72	1.430835	0.25726	.	.	ENSG00000121297	ENST00000240587	T	0.38560	1.13	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.32823	0.0842	L	0.27053	0.805	0.80722	D	1	P	0.46987	0.888	B	0.42163	0.378	T	0.06588	-1.0818	10	0.09843	T	0.71	-24.3768	19.1085	0.93307	0.0:1.0:0.0:0.0	.	764	Q63HK5	TSH3_HUMAN	S	764	ENSP00000240587:A764S	ENSP00000240587:A764S	A	-	1	0	TSHZ3	36460249	1.000000	0.71417	1.000000	0.80357	0.361000	0.29550	7.461000	0.80834	2.501000	0.84356	0.655000	0.94253	GCC		0.602	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		14	242	1	0	3.45872e-05	0.004007	3.74182e-05	14	242				
ZNF507	22847	broad.mit.edu	37	19	32844370	32844370	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr19:32844370C>G	ENST00000311921.4	+	2	826	c.634C>G	c.(634-636)Cca>Gca	p.P212A	ZNF507_ENST00000355898.5_Missense_Mutation_p.P212A|ZNF507_ENST00000544431.1_Missense_Mutation_p.P212A	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	212					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P212A(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					TGAAACCATTCCAGATATCCC	0.453																																							uc002nte.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)|kidney(1)|central_nervous_system(1)|skin(1)	5						c.(634-636)CCA>GCA		zinc finger protein 507							94.0	88.0	90.0					19																	32844370		2203	4300	6503	SO:0001583	missense	22847				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:32844370C>G	AB029007	CCDS32985.1	19q13.12	2008-02-05				ENSG00000168813		"""Zinc fingers, C2H2-type"""	23783	protein-coding gene	gene with protein product							Standard	NM_014910		Approved	KIAA1084	uc002ntd.3	Q8TCN5		ENST00000311921.4:c.634C>G	19.37:g.32844370C>G	ENSP00000312277:p.Pro212Ala					ZNF507_uc002ntc.2_Missense_Mutation_p.P212A|ZNF507_uc010xrn.1_Missense_Mutation_p.P212A|ZNF507_uc002ntd.2_Missense_Mutation_p.P212A	p.P212A	NM_001136156	NP_001129628	Q8TCN5	ZN507_HUMAN			3	906	+	Esophageal squamous(110;0.162)		212					A8K911|Q2TBF1|Q6MZU0|Q9UPR8	Missense_Mutation	SNP	ENST00000311921.4	37	c.634C>G	CCDS32985.1	.	.	.	.	.	.	.	.	.	.	C	6.365	0.435508	0.12045	.	.	ENSG00000168813	ENST00000355898;ENST00000311921;ENST00000544431	T;T;T	0.05513	3.73;3.73;3.43	5.9	0.653	0.17828	.	0.655288	0.16747	N	0.201210	T	0.04588	0.0125	L	0.36672	1.1	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.04013	0.001;0.001	T	0.34229	-0.9837	10	0.48119	T	0.1	.	3.0439	0.06147	0.1567:0.334:0.3573:0.1519	.	212;212	Q8TCN5;Q8TCN5-2	ZN507_HUMAN;.	A	212	ENSP00000348162:P212A;ENSP00000312277:P212A;ENSP00000441549:P212A	ENSP00000312277:P212A	P	+	1	0	ZNF507	37536210	0.000000	0.05858	0.028000	0.17463	0.010000	0.07245	-0.397000	0.07269	0.653000	0.30826	0.650000	0.86243	CCA		0.453	ZNF507-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450301.3	NM_014910		19	195	0	0	0	0.006122	0	19	195				
GPATCH1	55094	broad.mit.edu	37	19	33581687	33581687	+	Splice_Site	SNP	A	A	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr19:33581687A>G	ENST00000170564.2	+	3	524	c.210A>G	c.(208-210)ggA>ggG	p.G70G		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	70					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	nucleic acid binding (GO:0003676)	p.G70G(2)		breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					TTTTTTCAGGATGGACACCCT	0.373																																					Pancreas(67;88 1713 4567 18227)	Pancreas(67;88 1713 4567 18227)	uc002nug.1		NA																	2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(208-210)GGA>GGG		G patch domain containing 1							117.0	106.0	110.0					19																	33581687		2203	4300	6503	SO:0001630	splice_region_variant	55094					catalytic step 2 spliceosome	nucleic acid binding	g.chr19:33581687A>G	AF434677	CCDS12428.1	19q13.12	2013-01-28		2006-12-13		ENSG00000076650		"""G patch domain containing"""	24658	protein-coding gene	gene with protein product	"""evolutionarily conserved G patch domain containing"""			GPATC1		12477932	Standard	NM_018025		Approved	ECGP, FLJ10206, FLJ38686	uc002nug.1	Q9BRR8		ENST00000170564.2:c.209-1A>G	19.37:g.33581687A>G							p.G70G	NM_018025	NP_060495	Q9BRR8	GPTC1_HUMAN			3	524	+	Esophageal squamous(110;0.137)		70					Q8IZV6|Q8N3B7|Q9NW94	Silent	SNP	ENST00000170564.2	37	c.210A>G	CCDS12428.1																																																																																				0.373	GPATCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450834.1	NM_018025	Silent	9	152	0	0	0	0.008291	0	9	152				
GPATCH1	55094	broad.mit.edu	37	19	33600726	33600726	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr19:33600726G>T	ENST00000170564.2	+	11	1703	c.1389G>T	c.(1387-1389)agG>agT	p.R463S		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	463					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	nucleic acid binding (GO:0003676)	p.R463S(2)		breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					TCAAGGCCAGGAGTCTGGCCC	0.542																																					Pancreas(67;88 1713 4567 18227)	Pancreas(67;88 1713 4567 18227)	uc002nug.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(1387-1389)AGG>AGT		G patch domain containing 1							46.0	48.0	47.0					19																	33600726		2203	4300	6503	SO:0001583	missense	55094					catalytic step 2 spliceosome	nucleic acid binding	g.chr19:33600726G>T	AF434677	CCDS12428.1	19q13.12	2013-01-28		2006-12-13		ENSG00000076650		"""G patch domain containing"""	24658	protein-coding gene	gene with protein product	"""evolutionarily conserved G patch domain containing"""			GPATC1		12477932	Standard	NM_018025		Approved	ECGP, FLJ10206, FLJ38686	uc002nug.1	Q9BRR8		ENST00000170564.2:c.1389G>T	19.37:g.33600726G>T	ENSP00000170564:p.Arg463Ser						p.R463S	NM_018025	NP_060495	Q9BRR8	GPTC1_HUMAN			11	1703	+	Esophageal squamous(110;0.137)		463					Q8IZV6|Q8N3B7|Q9NW94	Missense_Mutation	SNP	ENST00000170564.2	37	c.1389G>T	CCDS12428.1	.	.	.	.	.	.	.	.	.	.	G	12.24	1.878965	0.33162	.	.	ENSG00000076650	ENST00000170564	T	0.29397	1.57	5.74	3.58	0.41010	.	0.449872	0.27117	N	0.020858	T	0.18964	0.0455	L	0.34521	1.04	0.25257	N	0.989622	B	0.29037	0.231	B	0.20577	0.03	T	0.12091	-1.0561	10	0.23891	T	0.37	-2.2724	8.3098	0.32064	0.1333:0.1376:0.7291:0.0	.	463	Q9BRR8	GPTC1_HUMAN	S	463	ENSP00000170564:R463S	ENSP00000170564:R463S	R	+	3	2	GPATCH1	38292566	0.153000	0.22777	0.160000	0.22671	0.845000	0.48019	0.951000	0.29135	1.426000	0.47256	0.655000	0.94253	AGG		0.542	GPATCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450834.1	NM_018025		26	246	1	0	1.04121e-07	0.005443	1.15521e-07	26	246				
SBSN	374897	broad.mit.edu	37	19	36017721	36017721	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr19:36017721C>A	ENST00000452271.2	-	1	1491	c.1463G>T	c.(1462-1464)gGg>gTg	p.G488V	SBSN_ENST00000518157.1_Missense_Mutation_p.G145V	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	488	Ala/Gly/His-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.G488V(2)|p.G145V(2)		large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TGCTTCCTTCCCAGCCTGGTG	0.597																																							uc002oae.1		NA																	4	Substitution - Missense(4)		lung(4)	ovary(1)	1						c.(433-435)GGG>GTG		suprabasin isoform 2 precursor							110.0	91.0	98.0					19																	36017721		2203	4300	6503	SO:0001583	missense	374897					extracellular region		g.chr19:36017721C>A	AY358701	CCDS12464.1, CCDS54253.1	19q13.13	2008-02-05							24950	protein-coding gene	gene with protein product		609969				12228223	Standard	NM_198538		Approved	UNQ698, HLAR698	uc002oad.2	Q6UWP8		ENST00000452271.2:c.1463G>T	19.37:g.36017721C>A	ENSP00000430242:p.Gly488Val					SBSN_uc002oad.1_Missense_Mutation_p.G488V	p.G145V	NM_198538	NP_940940	Q6UWP8	SBSN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		2	504	-	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		145			Ala/Gly/His-rich.		A8K5J0|E9PBV3	Missense_Mutation	SNP	ENST00000452271.2	37	c.434G>T	CCDS54253.1	.	.	.	.	.	.	.	.	.	.	c	13.82	2.350391	0.41599	.	.	ENSG00000189001	ENST00000452271;ENST00000518157	T;T	0.57436	0.64;0.4	4.46	2.19	0.27852	.	0.000000	0.40554	U	0.001067	T	0.66934	0.2840	M	0.74647	2.275	0.44995	D	0.998017	D;D	0.89917	1.0;0.996	D;D	0.97110	1.0;0.952	T	0.67534	-0.5646	10	0.87932	D	0	.	7.5376	0.27719	0.1684:0.7344:0.0:0.0971	.	145;488	Q6UWP8;E9PBV3	SBSN_HUMAN;.	V	488;145	ENSP00000430242:G488V;ENSP00000428771:G145V	ENSP00000430242:G488V	G	-	2	0	SBSN	40709561	.	.	0.988000	0.46212	0.499000	0.33736	.	.	0.930000	0.37217	0.457000	0.33378	GGG		0.597	SBSN-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109463.3	NM_198538		23	152	1	0	1.22574e-08	0.002299	1.39039e-08	23	152				
RYR1	6261	broad.mit.edu	37	19	39025783	39025783	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr19:39025783G>C	ENST00000359596.3	+	80	11362	c.11362G>C	c.(11362-11364)Gag>Cag	p.E3788Q	AC067969.2_ENST00000595853.1_RNA|RYR1_ENST00000360985.3_Missense_Mutation_p.E3788Q|RYR1_ENST00000355481.4_Missense_Mutation_p.E3783Q			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3788					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.E3788Q(2)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CCCTCCAGGAGAGACAGGTGC	0.557																																							uc002oit.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(11362-11364)GAG>CAG		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						70.0	51.0	57.0					19																	39025783		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:39025783G>C	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.11362G>C	19.37:g.39025783G>C	ENSP00000352608:p.Glu3788Gln					RYR1_uc002oiu.2_Missense_Mutation_p.E3783Q|RYR1_uc002oiv.1_Missense_Mutation_p.E703Q|RYR1_uc010xuf.1_Missense_Mutation_p.E708Q	p.E3788Q	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		80	11492	+	all_cancers(60;7.91e-06)		3788					Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.11362G>C	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	12.07	1.827952	0.32329	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.94046	-3.34;-3.34;-3.34	3.83	3.83	0.44106	.	0.000000	0.64402	U	0.000002	D	0.92443	0.7601	L	0.55834	1.745	0.40753	D	0.982938	P;P;P	0.50819	0.939;0.939;0.9	P;P;B	0.48627	0.584;0.584;0.38	D	0.91639	0.5325	10	0.30854	T	0.27	.	15.0434	0.71807	0.0:0.0:1.0:0.0	.	3788;3783;3788	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	Q	3788;3783;3788	ENSP00000352608:E3788Q;ENSP00000347667:E3783Q;ENSP00000354254:E3788Q	ENSP00000347667:E3783Q	E	+	1	0	RYR1	43717623	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	6.350000	0.73017	2.146000	0.66826	0.561000	0.74099	GAG		0.557	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			13	109	0	0	0	0.001855	0	13	109				
ZNF546	339327	broad.mit.edu	37	19	40519640	40519640	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr19:40519640C>G	ENST00000347077.4	+	7	679	c.463C>G	c.(463-465)Caa>Gaa	p.Q155E	ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_Missense_Mutation_p.Q129E	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	155					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q155E(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CTATTTATCTCAATTGCAGAC	0.313																																							uc002oms.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)|skin(1)	3						c.(463-465)CAA>GAA		zinc finger protein 546							46.0	47.0	46.0					19																	40519640		2203	4300	6503	SO:0001583	missense	339327				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40519640C>G	BC045649	CCDS12548.1	19q13.2	2013-01-08				ENSG00000187187		"""Zinc fingers, C2H2-type"", ""-"""	28671	protein-coding gene	gene with protein product				ZNF49		12477932	Standard	XM_005258853		Approved	MGC43537	uc002oms.2	Q86UE3		ENST00000347077.4:c.463C>G	19.37:g.40519640C>G	ENSP00000339823:p.Gln155Glu					ZNF546_uc002omt.2_Missense_Mutation_p.Q129E	p.Q155E	NM_178544	NP_848639	Q86UE3	ZN546_HUMAN			7	719	+	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		155					A8K913	Missense_Mutation	SNP	ENST00000347077.4	37	c.463C>G	CCDS12548.1	.	.	.	.	.	.	.	.	.	.	c	3.803	-0.041210	0.07452	.	.	ENSG00000187187	ENST00000347077	T	0.06449	3.3	2.57	1.42	0.22433	.	.	.	.	.	T	0.03739	0.0106	N	0.24115	0.695	0.09310	N	1	B;B	0.34015	0.435;0.435	B;B	0.23716	0.048;0.048	T	0.44847	-0.9301	9	0.25751	T	0.34	.	7.933	0.29914	0.3305:0.6695:0.0:0.0	.	129;155	B3KVL3;Q86UE3	.;ZN546_HUMAN	E	155	ENSP00000339823:Q155E	ENSP00000339823:Q155E	Q	+	1	0	ZNF546	45211480	0.026000	0.19158	0.007000	0.13788	0.471000	0.32888	0.640000	0.24705	0.467000	0.27218	0.655000	0.94253	CAA		0.313	ZNF546-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462495.2	NM_178544		21	211	0	0	0	0.010504	0	21	211				
AKT2	208	broad.mit.edu	37	19	40745964	40745964	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr19:40745964G>A	ENST00000392038.2	-	7	925	c.627C>T	c.(625-627)caC>caT	p.H209H	AKT2_ENST00000424901.1_Silent_p.H209H|AKT2_ENST00000579047.1_Silent_p.H147H|AKT2_ENST00000311278.6_Silent_p.H209H	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2	209	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Ral GTPase activity (GO:0032859)|apoptotic process (GO:0006915)|carbohydrate transport (GO:0008643)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|fat cell differentiation (GO:0045444)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|insulin receptor signaling pathway (GO:0008286)|intracellular protein transmembrane transport (GO:0065002)|mammary gland epithelial cell differentiation (GO:0060644)|membrane organization (GO:0061024)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|peripheral nervous system myelin maintenance (GO:0032287)|positive regulation of cell motility (GO:2000147)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)|protein localization to plasma membrane (GO:0072659)|regulation of cell cycle arrest (GO:0071156)|regulation of cell migration (GO:0030334)|regulation of translation (GO:0006417)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)	p.H209H(1)		breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			TGAGGAACGGGTGCCTGGTGT	0.597			A		"""ovarian, pancreatic """																																		uc002onf.2		NA		Dom	yes		19	19q13.1-q13.2	208	A	v-akt murine thymoma viral oncogene homolog 2			E			ovarian|pancreatic 		1	Substitution - coding silent(1)		lung(1)	lung(2)	2						c.(625-627)CAC>CAT		AKT2 kinase							174.0	161.0	166.0					19																	40745964		2203	4300	6503	SO:0001819	synonymous_variant	208				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr19:40745964G>A	M77198	CCDS12552.1	19q13.1-q13.2	2013-01-10			ENSG00000105221	ENSG00000105221	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	392	protein-coding gene	gene with protein product		164731				1409633	Standard	NM_001626		Approved		uc002onf.3	P31751	OTTHUMG00000137375	ENST00000392038.2:c.627C>T	19.37:g.40745964G>A						AKT2_uc010egs.2_Silent_p.H209H|AKT2_uc010egt.2_Silent_p.H147H|AKT2_uc010xvj.1_Silent_p.H147H|AKT2_uc010egu.1_Silent_p.H147H|AKT2_uc010xvk.1_Silent_p.H209H|AKT2_uc002one.2_Silent_p.H105H	p.H209H	NM_001626	NP_001617	P31751	AKT2_HUMAN	Lung(22;0.000499)		7	889	-			209			Protein kinase.		B2RBD8|Q05BV0|Q0VAN0|Q0VAN1|Q68GC0	Silent	SNP	ENST00000392038.2	37	c.627C>T	CCDS12552.1																																																																																				0.597	AKT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268029.1	NM_001626		32	866	0	0	0	0.002096	0	32	866				
LTBP4	8425	broad.mit.edu	37	19	41105459	41105459	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr19:41105459T>G	ENST00000308370.7	+	3	338	c.338T>G	c.(337-339)cTg>cGg	p.L113R	LTBP4_ENST00000204005.9_Missense_Mutation_p.L76R|LTBP4_ENST00000396819.3_5'Flank|LTBP4_ENST00000545697.1_5'UTR|LTBP4_ENST00000602240.1_3'UTR	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	113					extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.L113R(2)		central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGGCAGCCACTGACGTGAGTG	0.637																																							uc002ooh.1		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(337-339)CTG>CGG		latent transforming growth factor beta binding							77.0	88.0	85.0					19																	41105459		2041	4190	6231	SO:0001583	missense	8425				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	g.chr19:41105459T>G	Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"""Latent transforming growth factor, beta binding proteins"""	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.338T>G	19.37:g.41105459T>G	ENSP00000311905:p.Leu113Arg					LTBP4_uc002oog.1_Missense_Mutation_p.L76R|LTBP4_uc002ooi.1_5'Flank	p.L113R	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)		3	338	+			113					O00508|O75412|O75413	Missense_Mutation	SNP	ENST00000308370.7	37	c.338T>G		.	.	.	.	.	.	.	.	.	.	T	18.02	3.530269	0.64860	.	.	ENSG00000090006	ENST00000204005;ENST00000308370	D;D	0.83506	-1.67;-1.73	4.55	3.53	0.40419	.	0.000000	0.28908	U	0.013747	T	0.80778	0.4688	L	0.29908	0.895	0.80722	D	1	D;D	0.65815	0.995;0.995	P;P	0.59115	0.852;0.852	T	0.80344	-0.1422	10	0.62326	D	0.03	.	6.0241	0.19646	0.0:0.1165:0.0:0.8835	.	113;76	Q8N2S1;E7ENG9	LTBP4_HUMAN;.	R	76;113	ENSP00000204005:L76R;ENSP00000311905:L113R	ENSP00000204005:L76R	L	+	2	0	LTBP4	45797299	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	1.824000	0.39072	1.695000	0.51148	0.454000	0.30748	CTG		0.637	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003573		43	379	0	0	0	0.00361	0	43	379				
DMPK	1760	broad.mit.edu	37	19	46283154	46283154	+	Intron	SNP	C	C	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr19:46283154C>A	ENST00000291270.4	-	2	286				DMPK_ENST00000600757.1_Missense_Mutation_p.R55L|DMPK_ENST00000458663.2_Intron|DMPK_ENST00000595361.1_5'Flank|DMPK_ENST00000447742.2_Intron|DMPK_ENST00000354227.5_Intron|DMPK_ENST00000343373.4_Missense_Mutation_p.R55L|AC011530.4_ENST00000593999.1_Intron	NM_004409.3	NP_004400.4	Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase						cellular calcium ion homeostasis (GO:0006874)|muscle cell apoptotic process (GO:0010657)|nuclear envelope organization (GO:0006998)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|regulation of excitatory postsynaptic membrane potential involved in skeletal muscle contraction (GO:0014853)|regulation of heart contraction (GO:0008016)|regulation of myotube differentiation (GO:0010830)|regulation of skeletal muscle contraction by calcium ion signaling (GO:0014722)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of mitochondrial outer membrane (GO:0031307)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|myosin phosphatase regulator activity (GO:0017020)|protein serine/threonine kinase activity (GO:0004674)	p.R55L(1)		endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		GGAAAAGAACCGAGGGTCACC	0.602																																					Esophageal Squamous(35;307 869 9153 24033 28903)	Esophageal Squamous(35;307 869 9153 24033 28903)	uc002pdd.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(3)	3						c.(163-165)CGG>CTG		myotonic dystrophy protein kinase isoform 1							43.0	45.0	45.0					19																	46283154		2203	4300	6503	SO:0001627	intron_variant	1760				regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr19:46283154C>A	L19268	CCDS12674.1, CCDS46117.1, CCDS46118.1, CCDS46119.1, CCDS74400.1	19q13.3	2014-02-05					2.7.11.1		2933	protein-coding gene	gene with protein product	"""dystrophia myotonica 1"", ""DM protein kinase"", ""myotonin protein kinase A"", ""myotonic dystrophy associated protein kinase"", ""thymopoietin homolog"""	605377	"""dystrophia myotonica 1 (includes dystrophia myotonia protein kinase)"""	DM1, DM		1546325, 1546326	Standard	NM_001288765		Approved	DMK, DM1PK, MDPK, MT-PK	uc002pdf.1	Q09013		ENST00000291270.4:c.161-27G>T	19.37:g.46283154C>A						DMPK_uc010xxs.1_5'Flank|DMPK_uc002pde.1_Missense_Mutation_p.R55L|DMPK_uc002pdf.1_Intron|DMPK_uc002pdg.1_Intron|DMPK_uc002pdh.1_Intron|DMPK_uc002pdi.1_Intron|DMPK_uc010xxt.1_Intron|DMPK_uc010xxu.1_Missense_Mutation_p.R55L	p.R55L	NM_001081563	NP_001075032	Q09013	DMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)	1	708	-		Ovarian(192;0.0308)|all_neural(266;0.112)	55					E5KR08|Q16205|Q6P5Z6	Missense_Mutation	SNP	ENST00000291270.4	37	c.164G>T	CCDS12674.1	.	.	.	.	.	.	.	.	.	.	C	12.74	2.029176	0.35797	.	.	ENSG00000104936	ENST00000343373;ENST00000348168	T	0.40225	1.04	3.79	0.0817	0.14425	.	.	.	.	.	T	0.19765	0.0475	N	0.14661	0.345	0.09310	N	0.999993	B;B;B	0.09022	0.001;0.001;0.002	B;B;B	0.04013	0.001;0.0;0.0	T	0.21075	-1.0256	8	.	.	.	.	2.9398	0.05826	0.1942:0.4399:0.0:0.366	.	55;92;55	B7Z9B5;Q59FU6;E5KR08	.;.;.	L	55	ENSP00000345997:R55L	.	R	-	2	0	DMPK	50974994	0.000000	0.05858	0.002000	0.10522	0.014000	0.08584	-0.312000	0.08113	0.107000	0.17824	-0.143000	0.13931	CGG		0.602	DMPK-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460572.1	NM_004409		16	61	1	0	5.03518e-11	0.007413	5.77621e-11	16	61				
BAX	581	broad.mit.edu	37	19	49459574	49459574	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr19:49459574G>T	ENST00000345358.7	+	4	405	c.353G>T	c.(352-354)aGc>aTc	p.S118I	BAX_ENST00000293288.8_Missense_Mutation_p.S118I|BAX_ENST00000539787.1_Missense_Mutation_p.S118I|BAX_ENST00000415969.2_Missense_Mutation_p.S118I|BAX_ENST00000391871.3_3'UTR|BAX_ENST00000354470.3_Missense_Mutation_p.S69I	NM_138761.3|NM_138764.4	NP_620116.1|NP_620119.2	Q07812	BAX_HUMAN	BCL2-associated X protein	118					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|apoptotic process involved in patterning of blood vessels (GO:1902262)|apoptotic signaling pathway (GO:0097190)|B cell apoptotic process (GO:0001783)|B cell homeostasis (GO:0001782)|B cell homeostatic proliferation (GO:0002358)|B cell negative selection (GO:0002352)|B cell receptor apoptotic signaling pathway (GO:1990117)|blood vessel remodeling (GO:0001974)|cellular response to organic substance (GO:0071310)|cellular response to UV (GO:0034644)|cerebral cortex development (GO:0021987)|development of secondary sexual characteristics (GO:0045136)|ectopic germ cell programmed cell death (GO:0035234)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|establishment or maintenance of transmembrane electrochemical gradient (GO:0010248)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells within a tissue (GO:0048873)|hypothalamus development (GO:0021854)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial fusion (GO:0008053)|mitochondrion morphogenesis (GO:0070584)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein binding (GO:0032091)|neuron apoptotic process (GO:0051402)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic DNA fragmentation (GO:1902512)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of developmental pigmentation (GO:0048087)|positive regulation of endoplasmic reticulum unfolded protein response (GO:1900103)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|post-embryonic camera-type eye morphogenesis (GO:0048597)|protein homooligomerization (GO:0051260)|protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:0001844)|protein oligomerization (GO:0051259)|regulation of cell cycle (GO:0051726)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|regulation of mitochondrial membrane permeability involved in programmed necrotic cell death (GO:1902445)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of nitrogen utilization (GO:0006808)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|release of cytochrome c from mitochondria (GO:0001836)|release of matrix enzymes from mitochondria (GO:0032976)|response to axon injury (GO:0048678)|response to gamma radiation (GO:0010332)|response to salt stress (GO:0009651)|response to toxic substance (GO:0009636)|retina development in camera-type eye (GO:0060041)|retinal cell apoptotic process (GO:1990009)|retinal cell programmed cell death (GO:0046666)|Sertoli cell proliferation (GO:0060011)|spermatid differentiation (GO:0048515)|T cell homeostatic proliferation (GO:0001777)|thymocyte apoptotic process (GO:0070242)|transformed cell apoptotic process (GO:0006927)|vagina development (GO:0060068)|viral process (GO:0016032)	BAX complex (GO:0097144)|Bcl-2 family protein complex (GO:0097136)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrial permeability transition pore complex (GO:0005757)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pore complex (GO:0046930)	BH3 domain binding (GO:0051434)|channel activity (GO:0015267)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.S118I(4)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(4)	17		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000159)|all cancers(93;0.00047)|GBM - Glioblastoma multiforme(486;0.018)|Epithelial(262;0.0279)		TACTTTGCCAGCAAACTGGTG	0.587																																							uc002plk.2		NA																	4	Substitution - Missense(4)		lung(4)	lung(1)|central_nervous_system(1)|skin(1)	3						c.(352-354)AGC>ATC		BCL2-associated X protein isoform alpha							55.0	57.0	57.0					19																	49459574		2203	4300	6503	SO:0001583	missense	581				activation of caspase activity by cytochrome c|activation of pro-apoptotic gene products|B cell apoptosis|cleavage of lamin|DNA fragmentation involved in apoptotic nuclear change|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|induction of retinal programmed cell death|mitochondrial fragmentation involved in apoptosis|mitochondrial fusion|negative regulation of protein binding|negative regulation of survival gene product expression|nuclear fragmentation involved in apoptotic nuclear change|positive regulation of neuron apoptosis|protein homooligomerization|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria|release of matrix enzymes from mitochondria|response to toxin|transformed cell apoptosis	cytosol|endoplasmic reticulum membrane|mitochondrial outer membrane|mitochondrial permeability transition pore complex|nucleus	BH3 domain binding|channel activity|lipid binding|protein heterodimerization activity|protein homodimerization activity	g.chr19:49459574G>T		CCDS12742.1, CCDS12743.1, CCDS12744.1, CCDS12745.1, CCDS12745.2	19q13.3-q13.4	2014-03-07			ENSG00000087088	ENSG00000087088			959	protein-coding gene	gene with protein product		600040				8358790	Standard	NM_138761		Approved	BCL2L4	uc002plf.1	Q07812	OTTHUMG00000160476	ENST00000345358.7:c.353G>T	19.37:g.49459574G>T	ENSP00000263262:p.Ser118Ile					BAX_uc002plf.1_Missense_Mutation_p.S118I|BAX_uc002plg.1_Missense_Mutation_p.S81I|BAX_uc002plh.1_Missense_Mutation_p.S40I|BAX_uc010xzx.1_RNA|BAX_uc002plj.2_Missense_Mutation_p.S118I|BAX_uc002pll.2_Missense_Mutation_p.S69I|BAX_uc002plm.2_Missense_Mutation_p.S40I	p.S118I	NM_138761	NP_620116	Q07812	BAX_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000159)|all cancers(93;0.00047)|GBM - Glioblastoma multiforme(486;0.018)|Epithelial(262;0.0279)	4	422	+		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	118			BH1.		A8K4W1|P55269|Q07814|Q07815|Q8WZ49|Q9NR76|Q9NYG7|Q9UCZ6|Q9UCZ7|Q9UQD6	Missense_Mutation	SNP	ENST00000345358.7	37	c.353G>T	CCDS12742.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.55|14.55	2.568767|2.568767	0.45798|0.45798	.|.	.|.	ENSG00000087088|ENSG00000087088	ENST00000506183|ENST00000539787;ENST00000345358;ENST00000415969;ENST00000354470;ENST00000293288	.|T;T;T;T;T	.|0.28895	.|2.77;1.59;2.77;1.59;2.77	4.04|4.04	1.8|1.8	0.24995|0.24995	.|Apoptosis regulator, Bcl2-like (1);Apoptosis regulator, Bcl-2, BH (3);Apoptosis regulator, Bcl-2, BH1 motif, conserved site (1);	.|0.138624	.|0.64402	.|D	.|0.000003	T|T	0.32010|0.32010	0.0815|0.0815	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	.|B;P;P;D	.|0.56035	.|0.078;0.627;0.636;0.974	.|B;B;B;P	.|0.47346	.|0.054;0.268;0.13;0.544	T|T	0.06954|0.06954	-1.0798|-1.0798	5|10	.|0.30854	.|T	.|0.27	-6.9028|-6.9028	10.3508|10.3508	0.43934|0.43934	0.0:0.437:0.563:0.0|0.0:0.437:0.563:0.0	.|.	.|69;118;118;118	.|Q07812-4;Q07812;Q07812-8;Q07812-2	.|.;BAX_HUMAN;.;.	S|I	52|118;118;118;69;118	.|ENSP00000441413:S118I;ENSP00000263262:S118I;ENSP00000389971:S118I;ENSP00000346461:S69I;ENSP00000293288:S118I	.|ENSP00000293288:S118I	A|S	+|+	1|2	0|0	BAX|BAX	54151386|54151386	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	3.296000|3.296000	0.51802|0.51802	0.615000|0.615000	0.30124|0.30124	0.551000|0.551000	0.68910|0.68910	GCA|AGC		0.587	BAX-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360767.1	NM_138763		30	99	1	0	7.26314e-15	0.007291	8.62498e-15	30	99				
ZNF616	90317	broad.mit.edu	37	19	52619760	52619760	+	Silent	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr19:52619760G>T	ENST00000600228.1	-	4	918	c.657C>A	c.(655-657)ggC>ggA	p.G219G	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	219					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G219G(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		GAAAGGCTTTGCCACACTCAT	0.393																																							uc002pym.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(655-657)GGC>GGA		zinc finger protein 616							143.0	139.0	140.0					19																	52619760		2203	4300	6503	SO:0001819	synonymous_variant	90317				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52619760G>T	AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611		"""Zinc fingers, C2H2-type"", ""-"""	28062	protein-coding gene	gene with protein product							Standard	NM_178523		Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.657C>A	19.37:g.52619760G>T						ZNF616_uc002pyn.2_RNA	p.G219G	NM_178523	NP_848618	Q08AN1	ZN616_HUMAN		GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)	4	940	-			219			C2H2-type 2.		B3KRV1|Q0P658|Q658V7	Silent	SNP	ENST00000600228.1	37	c.657C>A	CCDS33090.1																																																																																				0.393	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462451.1	XM_030892		6	175	1	0	3.59834e-05	0.001168	3.87906e-05	6	175				
FIZ1	84922	broad.mit.edu	37	19	56104103	56104103	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr19:56104103C>T	ENST00000221665.3	-	3	1293	c.1204G>A	c.(1204-1206)Gaa>Aaa	p.E402K		NM_032836.2	NP_116225.2	Q96SL8	FIZ1_HUMAN	FLT3-interacting zinc finger 1	402					positive regulation of protein phosphorylation (GO:0001934)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|receptor tyrosine kinase binding (GO:0030971)	p.E402K(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		GACGGGGGTTCCCCGGACGCC	0.736																																							uc002qli.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1204-1206)GAA>AAA		FLT3-interacting zinc finger 1							19.0	28.0	25.0					19																	56104103		2185	4277	6462	SO:0001583	missense	84922				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding	g.chr19:56104103C>T	AK027674	CCDS12928.1	19q13.42	2013-01-08				ENSG00000179943		"""Zinc fingers, C2H2-type"""	25917	protein-coding gene	gene with protein product		609133				12566383	Standard	NM_032836		Approved	FLJ14768, ZNF798	uc002qli.4	Q96SL8		ENST00000221665.3:c.1204G>A	19.37:g.56104103C>T	ENSP00000221665:p.Glu402Lys					FIZ1_uc002qlj.3_Missense_Mutation_p.E402K	p.E402K	NM_032836	NP_116225	Q96SL8	FIZ1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)	3	1294	-			402					A2RU72|Q6ZMJ7	Missense_Mutation	SNP	ENST00000221665.3	37	c.1204G>A	CCDS12928.1	.	.	.	.	.	.	.	.	.	.	C	3.541	-0.093612	0.07053	.	.	ENSG00000179943	ENST00000221665	T	0.08807	3.05	3.24	2.14	0.27477	.	.	.	.	.	T	0.04588	0.0125	N	0.14661	0.345	0.80722	D	1	B	0.24186	0.099	B	0.14578	0.011	T	0.42732	-0.9434	9	0.15952	T	0.53	-8.8284	10.8326	0.46669	0.0:0.6309:0.3691:0.0	.	402	Q96SL8	FIZ1_HUMAN	K	402	ENSP00000221665:E402K	ENSP00000221665:E402K	E	-	1	0	FIZ1	60795915	0.000000	0.05858	0.333000	0.25482	0.213000	0.24496	-0.308000	0.08156	0.663000	0.31027	0.455000	0.32223	GAA		0.736	FIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453350.1	NM_032836		6	55	0	0	0	0.004482	0	6	55				
NLRP13	126204	broad.mit.edu	37	19	56423835	56423835	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr19:56423835G>C	ENST00000342929.3	-	5	1347	c.1348C>G	c.(1348-1350)Cag>Gag	p.Q450E	NLRP13_ENST00000588751.1_Missense_Mutation_p.Q450E	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	450	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)	p.Q450E(2)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GTGGTAGTCTGAGTGATTGAC	0.502																																							uc010ygg.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(4)|ovary(3)|pancreas(1)|lung(1)	9						c.(1348-1350)CAG>GAG		NACHT, leucine rich repeat and PYD containing							98.0	98.0	98.0					19																	56423835		2203	4300	6503	SO:0001583	missense	126204						ATP binding	g.chr19:56423835G>C	AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.1348C>G	19.37:g.56423835G>C	ENSP00000343891:p.Gln450Glu						p.Q450E	NM_176810	NP_789780	Q86W25	NAL13_HUMAN		GBM - Glioblastoma multiforme(193;0.0642)	5	1373	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	450			NACHT.		Q7RTR5	Missense_Mutation	SNP	ENST00000342929.3	37	c.1348C>G	CCDS33119.1	.	.	.	.	.	.	.	.	.	.	G	11.69	1.713575	0.30413	.	.	ENSG00000173572	ENST00000342929	T	0.74737	-0.87	2.32	1.23	0.21249	.	.	.	.	.	T	0.67646	0.2915	L	0.56280	1.765	0.09310	N	1	P	0.44478	0.836	B	0.44224	0.444	T	0.55392	-0.8148	9	0.34782	T	0.22	.	5.5219	0.16938	0.1825:0.0:0.8175:0.0	.	450	Q86W25	NAL13_HUMAN	E	450	ENSP00000343891:Q450E	ENSP00000343891:Q450E	Q	-	1	0	NLRP13	61115647	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.093000	0.11111	0.289000	0.22422	-0.474000	0.04947	CAG		0.502	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		18	121	0	0	0	0.010504	0	18	121				
PREPL	9581	broad.mit.edu	37	2	44569580	44569580	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr2:44569580C>T	ENST00000409936.1	-	6	1165	c.728G>A	c.(727-729)cGc>cAc	p.R243H	PREPL_ENST00000378511.3_Missense_Mutation_p.R243H|PREPL_ENST00000260648.6_Missense_Mutation_p.R243H|PREPL_ENST00000409411.1_Missense_Mutation_p.R154H|PREPL_ENST00000540817.1_5'Flank|PREPL_ENST00000410081.1_Missense_Mutation_p.R243H|PREPL_ENST00000409272.1_Missense_Mutation_p.R243H|PREPL_ENST00000378520.3_Missense_Mutation_p.R243H|PREPL_ENST00000409957.1_Missense_Mutation_p.R154H|PREPL_ENST00000541738.1_Missense_Mutation_p.R154H	NM_001171606.1	NP_001165077.1	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like	243						cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)	p.R243H(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TGTGTAAAAGCGTTCATTACG	0.378																																							uc002ruf.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(727-729)CGC>CAC		prolyl endopeptidase-like isoform C							110.0	114.0	113.0					2																	44569580		2203	4300	6503	SO:0001583	missense	9581				proteolysis	cytosol	serine-type endopeptidase activity	g.chr2:44569580C>T	AB007896	CCDS33190.1, CCDS42675.1, CCDS42676.1, CCDS54353.1	2p22.1	2008-02-05			ENSG00000138078	ENSG00000138078			30228	protein-coding gene	gene with protein product		609557				11524703	Standard	NM_006036		Approved	KIAA0436	uc002ruk.2	Q4J6C6	OTTHUMG00000152791	ENST00000409936.1:c.728G>A	2.37:g.44569580C>T	ENSP00000386543:p.Arg243His					PREPL_uc002rug.2_Missense_Mutation_p.R243H|PREPL_uc002ruh.2_Missense_Mutation_p.R243H|PREPL_uc010fax.2_Missense_Mutation_p.R243H|PREPL_uc002rui.3_Missense_Mutation_p.R154H|PREPL_uc002ruj.1_Missense_Mutation_p.R154H|PREPL_uc002ruk.1_Missense_Mutation_p.R243H	p.R243H	NM_006036	NP_006027	Q4J6C6	PPCEL_HUMAN			5	763	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	243					A7E2X6|D6W5A3|O43163|Q4J6C3|Q4J6C4|Q4ZG39|Q6ZMW7|Q96DW7	Missense_Mutation	SNP	ENST00000409936.1	37	c.728G>A	CCDS33190.1	.	.	.	.	.	.	.	.	.	.	C	18.98	3.738199	0.69304	.	.	ENSG00000138078	ENST00000541738;ENST00000409411;ENST00000409957;ENST00000409936;ENST00000260648;ENST00000409272;ENST00000410081;ENST00000378520;ENST00000378511	T;T;T;T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99	5.61	4.68	0.58851	Peptidase S9A/B/C, oligopeptidase, N-terminal beta-propeller (2);	0.416142	0.24695	N	0.036348	T	0.39809	0.1092	N	0.08118	0	0.26124	N	0.980519	D;D;D	0.89917	1.0;0.999;0.999	D;P;D	0.79784	0.993;0.869;0.938	T	0.19386	-1.0307	10	0.48119	T	0.1	-16.0907	8.5848	0.33651	0.2165:0.6467:0.1368:0.0	.	243;243;243	Q4J6C6-3;Q4J6C6-2;Q4J6C6	.;.;PPCEL_HUMAN	H	154;154;154;243;243;243;243;243;243	ENSP00000439626:R154H;ENSP00000387095:R154H;ENSP00000387241:R154H;ENSP00000386543:R243H;ENSP00000260648:R243H;ENSP00000386909:R243H;ENSP00000386509:R243H;ENSP00000367781:R243H;ENSP00000367772:R243H	ENSP00000260648:R243H	R	-	2	0	PREPL	44423084	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.991000	0.40727	2.629000	0.89072	0.655000	0.94253	CGC		0.378	PREPL-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327900.1	NM_006036		39	117	0	0	0	0.003214	0	39	117				
EPAS1	2034	broad.mit.edu	37	2	46608818	46608818	+	Missense_Mutation	SNP	G	G	A	rs376653305		TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr2:46608818G>A	ENST00000263734.3	+	13	2639	c.2129G>A	c.(2128-2130)cGa>cAa	p.R710Q		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	710					angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)	p.R710Q(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			AAGCTGAAGCGACAGCTGGAG	0.617																																							uc002ruv.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(2128-2130)CGA>CAA		endothelial PAS domain protein 1		G	GLN/ARG	0,4406		0,0,2203	47.0	46.0	46.0		2129	4.9	1.0	2		46	1,8599	1.2+/-3.3	0,1,4299	no	missense	EPAS1	NM_001430.4	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	710/871	46608818	1,13005	2203	4300	6503	SO:0001583	missense	2034				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding	g.chr2:46608818G>A	U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"""Basic helix-loop-helix proteins"""	3374	protein-coding gene	gene with protein product	"""HIF-1 alpha-like factor"""	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.2129G>A	2.37:g.46608818G>A	ENSP00000263734:p.Arg710Gln					EPAS1_uc002ruw.2_Missense_Mutation_p.R176Q	p.R710Q	NM_001430	NP_001421	Q99814	EPAS1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.151)		13	2617	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	710					Q86VA2|Q99630	Missense_Mutation	SNP	ENST00000263734.3	37	c.2129G>A	CCDS1825.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.013424	0.93346	0.0	1.16E-4	ENSG00000116016	ENST00000263734	T	0.55930	0.49	4.87	4.87	0.63330	.	0.769625	0.12075	N	0.501828	T	0.70090	0.3184	L	0.52905	1.665	0.36146	D	0.847128	D	0.89917	1.0	D	0.83275	0.996	T	0.74544	-0.3630	10	0.87932	D	0	.	16.202	0.82088	0.0:0.0:1.0:0.0	.	710	Q99814	EPAS1_HUMAN	Q	710	ENSP00000263734:R710Q	ENSP00000263734:R710Q	R	+	2	0	EPAS1	46462322	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	6.423000	0.73361	2.244000	0.73946	0.563000	0.77884	CGA		0.617	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250752.2	NM_001430		17	106	0	0	0	0.006122	0	17	106				
CCDC88A	55704	broad.mit.edu	37	2	55546020	55546020	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr2:55546020C>T	ENST00000436346.1	-	19	4124	c.3283G>A	c.(3283-3285)Gaa>Aaa	p.E1095K	CCDC88A_ENST00000263630.8_Missense_Mutation_p.E1095K|AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000608103.1_RNA|AC012358.8_ENST00000594078.1_RNA|CCDC88A_ENST00000413716.2_Missense_Mutation_p.E1094K|CCDC88A_ENST00000336838.6_Missense_Mutation_p.E1094K|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000599475.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1095					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)	p.E1094K(2)|p.E1095K(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						GTATTCTGTTCTTGTAATGAC	0.368																																							uc002ryv.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(2)|skin(2)	4						c.(3280-3282)GAA>AAA		coiled-coil domain containing 88A isoform 1							182.0	169.0	173.0					2																	55546020		2203	4300	6503	SO:0001583	missense	55704				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	g.chr2:55546020C>T	AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.3283G>A	2.37:g.55546020C>T	ENSP00000410608:p.Glu1095Lys					CCDC88A_uc010yoz.1_Missense_Mutation_p.E1095K|CCDC88A_uc010ypa.1_Missense_Mutation_p.E1094K|CCDC88A_uc002ryu.2_Missense_Mutation_p.E377K|CCDC88A_uc002rys.2_Missense_Mutation_p.E80K|CCDC88A_uc002ryw.2_Missense_Mutation_p.E378K|CCDC88A_uc010fby.1_5'UTR	p.E1094K	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN			19	4122	-			1095			Potential.		A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	ENST00000436346.1	37	c.3280G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.197020|5.197020	0.94960|0.94960	.|.	.|.	ENSG00000115355|ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000412148;ENST00000413716;ENST00000426576|ENST00000456975	T;T;T;D;T;T|.	0.81908|.	2.24;2.5;2.46;-1.55;2.26;1.24|.	5.46|5.46	5.46|5.46	0.80206|0.80206	.|.	0.000000|.	0.48286|.	U|.	0.000192|.	T|T	0.78298|0.78298	0.4261|0.4261	M|M	0.79011|0.79011	2.435|2.435	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;0.999;1.0;0.999;0.998|.	D;D;D;D;D|.	0.80764|.	0.991;0.994;0.994;0.972;0.957|.	T|T	0.78170|0.78170	-0.2308|-0.2308	10|5	0.37606|.	T|.	0.19|.	-16.2944|-16.2944	19.3048|19.3048	0.94157|0.94157	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1094;1095;1095;1094;1094|.	B7ZM78;Q3V6T2-2;Q3V6T2;Q3V6T2-3;Q3V6T2-4|.	.;.;GRDN_HUMAN;.;.|.	K|K	1094;1095;1095;140;1094;270|75	ENSP00000338728:E1094K;ENSP00000263630:E1095K;ENSP00000410608:E1095K;ENSP00000390012:E140K;ENSP00000404431:E1094K;ENSP00000405080:E270K|.	ENSP00000263630:E1095K|.	E|R	-|-	1|2	0|0	CCDC88A|CCDC88A	55399524|55399524	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.758000|0.758000	0.43043|0.43043	7.743000|7.743000	0.85020|0.85020	2.567000|2.567000	0.86603|0.86603	0.650000|0.650000	0.86243|0.86243	GAA|AGA		0.368	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571		31	170	0	0	0	0.002445	0	31	170				
USP34	9736	broad.mit.edu	37	2	61538783	61538783	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr2:61538783G>C	ENST00000398571.2	-	27	3785	c.3709C>G	c.(3709-3711)Ctt>Gtt	p.L1237V		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1237					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.L1237V(2)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TCAGCCCTAAGATCTGCTACC	0.353																																							uc002sbe.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19						c.(3709-3711)CTT>GTT		ubiquitin specific protease 34							77.0	72.0	73.0					2																	61538783		1820	4084	5904	SO:0001583	missense	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61538783G>C	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.3709C>G	2.37:g.61538783G>C	ENSP00000381577:p.Leu1237Val						p.L1237V	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		27	3731	-			1237					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.3709C>G	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	G	18.43	3.622401	0.66787	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571	T	0.13089	2.62	5.28	4.39	0.52855	.	0.000000	0.85682	D	0.000000	T	0.26882	0.0658	M	0.64404	1.975	0.48696	D	0.999698	P	0.52842	0.956	P	0.62184	0.899	T	0.00567	-1.1667	10	0.23302	T	0.38	.	9.9949	0.41893	0.1517:0.0:0.8483:0.0	.	1237	Q70CQ2	UBP34_HUMAN	V	1085;1085;1237	ENSP00000381577:L1237V	ENSP00000263989:L1085V	L	-	1	0	USP34	61392287	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.919000	0.63383	2.622000	0.88805	0.585000	0.79938	CTT		0.353	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			9	94	0	0	0	0.006214	0	9	94				
FBXO41	150726	broad.mit.edu	37	2	73486384	73486384	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr2:73486384C>T	ENST00000521871.1	-	12	2905	c.2490G>A	c.(2488-2490)ggG>ggA	p.G830G	FBXO41_ENST00000520530.2_Silent_p.G830G|FBXO41_ENST00000295133.5_Silent_p.G891G			Q8TF61	FBX41_HUMAN	F-box protein 41	830								p.G454G(1)|p.G830G(1)		breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						AATCCGCAATCCCAATCTGGA	0.557																																							uc002sjb.1		NA																	2	Substitution - coding silent(2)		lung(2)	breast(2)|pancreas(1)	3						c.(2671-2673)GGG>GGA		F-box protein 41							84.0	86.0	85.0					2																	73486384		2082	4207	6289	SO:0001819	synonymous_variant	150726					intracellular	protein binding|zinc ion binding	g.chr2:73486384C>T	AB075820	CCDS46337.1, CCDS46337.2	2p13.2	2004-08-24				ENSG00000163013		"""F-boxes /  ""other"""""	29409	protein-coding gene	gene with protein product		609108				11853319	Standard	NM_001080410		Approved	KIAA1940, Fbx41	uc021vjh.1	Q8TF61		ENST00000521871.1:c.2490G>A	2.37:g.73486384C>T							p.G891G	NM_001080410	NP_001073879	Q8TF61	FBX41_HUMAN			12	2673	-			830					G3V0Z7|Q2M1V8	Silent	SNP	ENST00000521871.1	37	c.2673G>A	CCDS46337.2																																																																																				0.557	FBXO41-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377381.1			14	113	0	0	0	0.00245	0	14	113				
C2orf78	388960	broad.mit.edu	37	2	74042320	74042320	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr2:74042320G>C	ENST00000409561.1	+	3	1091	c.970G>C	c.(970-972)Gag>Cag	p.E324Q		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	324								p.E324Q(4)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						CCAGACACTTGAGAGTAACCC	0.463																																							uc002sjr.1		NA																	4	Substitution - Missense(4)		lung(4)	ovary(2)	2						c.(970-972)GAG>CAG		hypothetical protein LOC388960							76.0	70.0	72.0					2																	74042320		1868	4109	5977	SO:0001583	missense	388960							g.chr2:74042320G>C	AC092653, AC136006, AK125975	CCDS46338.1	2p13.2	2008-07-18			ENSG00000187833	ENSG00000187833			34349	protein-coding gene	gene with protein product							Standard	NM_001080474		Approved	FLJ43987, hCG1989538, COG5373	uc002sjr.1	A6NCI8	OTTHUMG00000152819	ENST00000409561.1:c.970G>C	2.37:g.74042320G>C	ENSP00000387124:p.Glu324Gln						p.E324Q	NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN			3	1091	+			324						Missense_Mutation	SNP	ENST00000409561.1	37	c.970G>C	CCDS46338.1	.	.	.	.	.	.	.	.	.	.	G	0.625	-0.819632	0.02776	.	.	ENSG00000187833	ENST00000409561;ENST00000342345	.	.	.	5.38	3.54	0.40534	.	1.038680	0.07661	N	0.933722	T	0.21307	0.0513	N	0.17082	0.46	0.09310	N	1	B	0.28512	0.214	B	0.31290	0.127	T	0.21552	-1.0242	9	0.02654	T	1	0.0473	8.0385	0.30508	0.0867:0.1595:0.7538:0.0	.	324	A6NCI8	CB078_HUMAN	Q	324	.	ENSP00000340692:E324Q	E	+	1	0	C2orf78	73895828	0.922000	0.31269	0.037000	0.18230	0.007000	0.05969	1.093000	0.30939	0.739000	0.32628	0.585000	0.79938	GAG		0.463	C2orf78-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000328083.1	NM_001080474		25	83	0	0	0	0.005443	0	25	83				
ANAPC1	64682	broad.mit.edu	37	2	112604723	112604723	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr2:112604723G>C	ENST00000341068.3	-	16	2616	c.1844C>G	c.(1843-1845)tCt>tGt	p.S615C		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	615					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)		p.S615C(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						ACCTAACTCAGAGGTGGCAAT	0.328																																							uc002thi.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(2)	2						c.(1843-1845)TCT>TGT		anaphase promoting complex subunit 1							68.0	64.0	65.0					2																	112604723		2203	4300	6503	SO:0001583	missense	64682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		g.chr2:112604723G>C	AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"""Anaphase promoting complex subunits"""	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.1844C>G	2.37:g.112604723G>C	ENSP00000339109:p.Ser615Cys						p.S615C	NM_022662	NP_073153	Q9H1A4	APC1_HUMAN			16	2091	-			615					Q2M3H8|Q9BSE6|Q9H8D0	Missense_Mutation	SNP	ENST00000341068.3	37	c.1844C>G	CCDS2093.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.007603	0.54361	.	.	ENSG00000153107	ENST00000341068	.	.	.	4.58	4.58	0.56647	.	0.000000	0.37906	U	0.001888	T	0.79137	0.4395	M	0.79258	2.445	0.58432	D	0.999999	D	0.76494	0.999	D	0.70716	0.97	T	0.81933	-0.0706	9	0.56958	D	0.05	-17.7974	17.3456	0.87308	0.0:0.0:1.0:0.0	.	615	Q9H1A4	APC1_HUMAN	C	615	.	ENSP00000339109:S615C	S	-	2	0	ANAPC1	112321194	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	8.890000	0.92477	2.250000	0.74265	0.460000	0.39030	TCT		0.328	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	NM_022662		6	88	0	0	0	0.001984	0	6	88				
RGPD8	727851	broad.mit.edu	37	2	113190977	113190977	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr2:113190977G>A	ENST00000302558.3	-	1	245	c.54C>T	c.(52-54)ctC>ctT	p.L18L	RGPD8_ENST00000330575.5_Silent_p.L18L|RGPD8_ENST00000409750.1_Intron	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8	18					protein targeting to Golgi (GO:0000042)	nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)	p.L18L(2)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GCGACGGGGTGAGACCCAGCA	0.751																																							uc002ths.1		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(52-54)CTC>CTT		RANBP2-like and GRIP domain containing 5 isoform							22.0	39.0	34.0					2																	113190977		692	1591	2283	SO:0001819	synonymous_variant	84220				intracellular transport	cytoplasm	binding	g.chr2:113190977G>A	AF012086	CCDS46394.1	2q13	2013-01-10	2005-12-20	2005-12-20	ENSG00000169629	ENSG00000169629		"""Tetratricopeptide (TTC) repeat domain containing"""	9849	protein-coding gene	gene with protein product		602752	"""RAN binding protein 2-like 1"""	RANBP2L1		9480752	Standard	NM_001164463		Approved	RanBP2alpha	uc002ths.2	O14715	OTTHUMG00000153289	ENST00000302558.3:c.54C>T	2.37:g.113190977G>A						RGPD8_uc010fkk.1_Intron|RGPD5_uc010yxm.1_Silent_p.L18L	p.L18L	NM_005054	NP_005045	Q99666	RGPD5_HUMAN			1	131	-			18					Q5CZA8	Silent	SNP	ENST00000302558.3	37	c.54C>T	CCDS46394.1	.	.	.	.	.	.	.	.	.	.	G	2.043	-0.419627	0.04734	.	.	ENSG00000169629	ENST00000496537	.	.	.	1.79	-2.4	0.06583	.	.	.	.	.	T	0.50222	0.1603	.	.	.	0.58432	D	0.999996	.	.	.	.	.	.	T	0.39292	-0.9621	4	.	.	.	-0.707	6.5397	0.22372	0.4001:0.0:0.5999:0.0	.	.	.	.	L	12	.	.	S	-	2	0	RGPD8	112907448	0.188000	0.23250	0.003000	0.11579	0.004000	0.04260	-0.680000	0.05197	-0.918000	0.03808	0.162000	0.16502	TCA		0.751	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375951.1	XM_001722279		4	40	0	0	0	0.000602	0	4	40				
IWS1	55677	broad.mit.edu	37	2	128263325	128263325	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr2:128263325C>A	ENST00000295321.4	-	3	413	c.154G>T	c.(154-156)Gaa>Taa	p.E52*	IWS1_ENST00000455721.2_Nonsense_Mutation_p.E59*|IWS1_ENST00000486662.1_5'UTR|AC010976.2_ENST00000599001.1_RNA	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	52					mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of histone H3-K36 trimethylation (GO:2001253)|regulation of histone H4 acetylation (GO:0090239)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E52*(2)		cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		TCACTAGTTTCATTCTGAAAA	0.308																																							uc002ton.2		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(154-156)GAA>TAA		IWS1 homolog							76.0	78.0	77.0					2																	128263325		2197	4296	6493	SO:0001587	stop_gained	55677				transcription, DNA-dependent	nucleus	DNA binding	g.chr2:128263325C>A	AK000868	CCDS2146.1	2q14.3	2006-03-17			ENSG00000163166	ENSG00000163166			25467	protein-coding gene	gene with protein product							Standard	NM_017969		Approved	DKFZp761G0123, FLJ10006, FLJ14655, FLJ32319	uc002ton.2	Q96ST2	OTTHUMG00000131527	ENST00000295321.4:c.154G>T	2.37:g.128263325C>A	ENSP00000295321:p.Glu52*					IWS1_uc010yzl.1_RNA|IWS1_uc010fma.2_RNA	p.E52*	NM_017969	NP_060439	Q96ST2	IWS1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0735)	3	457	-	Colorectal(110;0.1)		52					Q2TB65|Q6P157|Q8N3E8|Q96MI7|Q9NV97|Q9NWH8	Nonsense_Mutation	SNP	ENST00000295321.4	37	c.154G>T	CCDS2146.1	.	.	.	.	.	.	.	.	.	.	C	36	5.935444	0.97122	.	.	ENSG00000163166	ENST00000295321;ENST00000433551;ENST00000455721;ENST00000409725	.	.	.	5.41	5.41	0.78517	.	0.331938	0.28198	N	0.016225	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-10.502	19.1795	0.93617	0.0:1.0:0.0:0.0	.	.	.	.	X	52;52;59;57	.	ENSP00000295321:E52X	E	-	1	0	IWS1	127979795	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	5.697000	0.68295	2.511000	0.84671	0.591000	0.81541	GAA		0.308	IWS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254384.2	NM_017969		20	210	1	0	1.00905e-13	0.008871	1.18436e-13	20	210				
RIF1	55183	broad.mit.edu	37	2	152295239	152295239	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr2:152295239G>A	ENST00000243326.5	+	13	2008	c.1525G>A	c.(1525-1527)Gtg>Atg	p.V509M	RIF1_ENST00000433166.2_3'UTR|RIF1_ENST00000444746.2_Missense_Mutation_p.V509M|RIF1_ENST00000453091.2_Missense_Mutation_p.V509M|RIF1_ENST00000428287.2_Missense_Mutation_p.V509M|RIF1_ENST00000430328.2_Missense_Mutation_p.V509M			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)	p.V509M(2)		NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AATTAGCTTGGTGAAGTCAGT	0.348																																							uc002txm.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1)	15						c.(1525-1527)GTG>ATG		RAP1 interacting factor 1							149.0	143.0	145.0					2																	152295239		2203	4300	6503	SO:0001583	missense	55183				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	g.chr2:152295239G>A	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.1525G>A	2.37:g.152295239G>A	ENSP00000243326:p.Val509Met					RIF1_uc002txl.2_Missense_Mutation_p.V509M|RIF1_uc010fnv.1_Missense_Mutation_p.V473M|RIF1_uc002txn.2_Missense_Mutation_p.V509M|RIF1_uc002txo.2_Missense_Mutation_p.V509M|RIF1_uc010zby.1_RNA	p.V509M	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	14	1655	+			509					A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000243326.5	37	c.1525G>A	CCDS2194.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.29|14.29	2.491253|2.491253	0.44249|0.44249	.|.	.|.	ENSG00000080345|ENSG00000080345	ENST00000414861|ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328	.|T;T;T;T;T	.|0.65364	.|-0.15;-0.15;-0.15;-0.15;-0.15	5.34|5.34	4.47|4.47	0.54385|0.54385	.|.	.|0.209246	.|0.40640	.|N	.|0.001046	T|T	0.52419|0.52419	0.1733|0.1733	L|L	0.60455|0.60455	1.87|1.87	0.80722|0.80722	D|D	1|1	.|P;P	.|0.39759	.|0.687;0.493	.|B;B	.|0.34385	.|0.17;0.181	T|T	0.51687|0.51687	-0.8674|-0.8674	5|10	.|0.32370	.|T	.|0.25	-5.2092|-5.2092	9.4049|9.4049	0.38455|0.38455	0.1644:0.0:0.8356:0.0|0.1644:0.0:0.8356:0.0	.|.	.|509;509	.|Q5UIP0;Q5UIP0-2	.|RIF1_HUMAN;.	D|M	500|509	.|ENSP00000390181:V509M;ENSP00000414615:V509M;ENSP00000415691:V509M;ENSP00000243326:V509M;ENSP00000416123:V509M	.|ENSP00000243326:V509M	G|V	+|+	2|1	0|0	RIF1|RIF1	152003485|152003485	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.868000|0.868000	0.49771|0.49771	4.434000|4.434000	0.59935|0.59935	1.376000|1.376000	0.46267|0.46267	0.557000|0.557000	0.71058|0.71058	GGT|GTG		0.348	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			18	63	0	0	0	0.007413	0	18	63				
SLC38A11	151258	broad.mit.edu	37	2	165755217	165755217	+	Silent	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr2:165755217G>T	ENST00000409149.3	-	11	1242	c.951C>A	c.(949-951)ctC>ctA	p.L317L	SLC38A11_ENST00000409662.1_Silent_p.L317L|SLC38A11_ENST00000409058.1_Silent_p.L348L|SLC38A11_ENST00000303735.4_Silent_p.L295L|RNA5SP111_ENST00000411386.1_RNA	NM_001199148.1	NP_001186077.1	Q08AI6	S38AB_HUMAN	solute carrier family 38, member 11	317					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)		p.L295L(2)		endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						TGATAAAAATGAGGGGAGTTG	0.408																																							uc002ucv.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(949-951)CTC>CTA		solute carrier family 38, member 11							81.0	74.0	77.0					2																	165755217		2203	4300	6503	SO:0001819	synonymous_variant	151258				amino acid transport|sodium ion transport	integral to membrane		g.chr2:165755217G>T		CCDS2224.1, CCDS56142.1	2q24.3	2013-05-22			ENSG00000169507	ENSG00000169507		"""Solute carriers"""	26836	protein-coding gene	gene with protein product							Standard	NM_173512		Approved	FLJ39822, AVT2	uc002ucw.2	Q08AI6	OTTHUMG00000132144	ENST00000409149.3:c.951C>A	2.37:g.165755217G>T						SLC38A11_uc002ucu.1_Silent_p.L295L|SLC38A11_uc002ucw.1_Silent_p.L317L	p.L317L	NM_173512	NP_775783	Q08AI6	S38AB_HUMAN			13	1488	-			317			Helical; (Potential).		B4DF99|Q8N887	Silent	SNP	ENST00000409149.3	37	c.951C>A	CCDS56142.1																																																																																				0.408	SLC38A11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333390.1	NM_173512		5	74	1	0	0.000602214	0.000602	0.000629117	5	74				
DHRS9	10170	broad.mit.edu	37	2	169938312	169938312	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr2:169938312C>T	ENST00000327239.4	+	5	1725	c.221C>T	c.(220-222)tCa>tTa	p.S74L	DHRS9_ENST00000432060.2_Missense_Mutation_p.S134L|DHRS9_ENST00000602501.1_Missense_Mutation_p.S74L|DHRS9_ENST00000412271.1_Missense_Mutation_p.S74L|DHRS9_ENST00000421653.1_5'UTR|DHRS9_ENST00000357546.2_Missense_Mutation_p.S74L|DHRS9_ENST00000428522.1_Missense_Mutation_p.S74L|DHRS9_ENST00000436483.2_Missense_Mutation_p.S74L	NM_005771.4	NP_005762.2	Q9BPW9	DHRS9_HUMAN	dehydrogenase/reductase (SDR family) member 9	74					9-cis-retinoic acid biosynthetic process (GO:0042904)|androgen metabolic process (GO:0008209)|epithelial cell differentiation (GO:0030855)|progesterone metabolic process (GO:0042448)|retinol metabolic process (GO:0042572)	integral component of endoplasmic reticulum membrane (GO:0030176)	alcohol dehydrogenase (NAD) activity (GO:0004022)|racemase and epimerase activity (GO:0016854)|retinol dehydrogenase activity (GO:0004745)|testosterone dehydrogenase (NAD+) activity (GO:0047035)	p.S74L(2)		breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						GCAGAAACCTCAGAGAGACTT	0.468																																							uc002uep.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(220-222)TCA>TTA		NADP-dependent retinol dehydrogenase/reductase							79.0	78.0	78.0					2																	169938312		2203	4300	6503	SO:0001583	missense	10170				9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity	g.chr2:169938312C>T	AF067174	CCDS2231.1, CCDS74600.1	2q31.1	2011-09-14			ENSG00000073737	ENSG00000073737		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	16888	protein-coding gene	gene with protein product	"""NADP-dependent retinol dehydrogenase/reductase"", ""3-alpha hydroxysteroid dehydrogenase"", ""retinol dehydrogenase homolog"", ""short chain dehydrogenase/reductase family 9C, member 4"""	612131				11304534, 11294878, 19027726	Standard	NM_001142270		Approved	RDHL, 3alpha-HSD, RETSDR8, RDH15, SDR9C4	uc010zde.2	Q9BPW9	OTTHUMG00000132180	ENST00000327239.4:c.221C>T	2.37:g.169938312C>T	ENSP00000316670:p.Ser74Leu					DHRS9_uc002ueq.2_Missense_Mutation_p.S74L|DHRS9_uc010zdc.1_Missense_Mutation_p.S134L|DHRS9_uc002uer.1_Missense_Mutation_p.S74L|DHRS9_uc010zdd.1_Missense_Mutation_p.S74L|DHRS9_uc010zde.1_Missense_Mutation_p.S74L	p.S74L	NM_005771	NP_005762	Q9BPW9	DHRS9_HUMAN			5	1725	+			74					B7Z416|D3DPC1|Q5RKX1|Q9NRA9|Q9NRB0	Missense_Mutation	SNP	ENST00000327239.4	37	c.221C>T	CCDS2231.1	.	.	.	.	.	.	.	.	.	.	C	35	5.546296	0.96488	.	.	ENSG00000073737	ENST00000327239;ENST00000357546;ENST00000432060;ENST00000428522;ENST00000436483;ENST00000412271	D;D;D;D;D;D	0.90004	-2.6;-2.6;-2.6;-2.6;-2.6;-2.6	5.72	5.72	0.89469	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.94182	0.8133	M	0.72576	2.205	0.80722	D	1	D;D	0.76494	0.995;0.999	D;D	0.71656	0.946;0.974	D	0.94072	0.7336	10	0.87932	D	0	.	19.839	0.96675	0.0:1.0:0.0:0.0	.	134;74	B7Z416;Q9BPW9	.;DHRS9_HUMAN	L	74;74;134;74;74;74	ENSP00000316670:S74L;ENSP00000350154:S74L;ENSP00000389241:S134L;ENSP00000388564:S74L;ENSP00000407167:S74L;ENSP00000407747:S74L	ENSP00000316670:S74L	S	+	2	0	DHRS9	169646558	0.997000	0.39634	0.997000	0.53966	0.953000	0.61014	4.423000	0.59861	2.865000	0.98341	0.655000	0.94253	TCA		0.468	DHRS9-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333612.3	NM_005771		11	89	0	0	0	0.008291	0	11	89				
TTN	7273	broad.mit.edu	37	2	179605502	179605502	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr2:179605502T>A	ENST00000591111.1	-	46	11731	c.11507A>T	c.(11506-11508)cAg>cTg	p.Q3836L	TTN_ENST00000342175.6_Missense_Mutation_p.Q3982L|TTN_ENST00000589042.1_Missense_Mutation_p.Q4153L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Q3915L|TTN_ENST00000460472.2_Missense_Mutation_p.Q3790L			Q8WZ42	TITIN_HUMAN	titin	0					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.Q3915L(2)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGTACAATCTGCAGCTGTAG	0.458																																							uc010zfh.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(11944-11946)CAG>CTG		titin isoform novex-2							131.0	128.0	129.0					2																	179605502		1907	4123	6030	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179605502T>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.11507A>T	2.37:g.179605502T>A	ENSP00000465570:p.Gln3836Leu					TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.Q3915L|TTN_uc010zfj.1_Missense_Mutation_p.Q3790L|TTN_uc002umz.1_Intron	p.Q3982L	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	12169	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.11945A>T		.	.	.	.	.	.	.	.	.	.	T	6.397	0.441314	0.12164	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.64991	-0.05;-0.13;-0.13	5.64	4.46	0.54185	.	.	.	.	.	T	0.51669	0.1688	L	0.29908	0.895	0.32242	N	0.57258	P;P;P	0.35433	0.501;0.501;0.501	B;B;B	0.35470	0.203;0.203;0.203	T	0.62129	-0.6919	9	0.87932	D	0	.	12.6987	0.57018	0.0:0.0:0.1378:0.8622	.	3790;3915;3982	D3DPF9;E7EQE6;E7ET18	.;.;.	L	3790;3982;3915;3790	ENSP00000434586:Q3790L;ENSP00000340554:Q3982L;ENSP00000352154:Q3915L	ENSP00000340554:Q3982L	Q	-	2	0	TTN	179313747	1.000000	0.71417	0.044000	0.18714	0.005000	0.04900	4.873000	0.63057	0.925000	0.37094	0.533000	0.62120	CAG		0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		50	207	0	0	0	0.00361	0	50	207				
PLCL1	5334	broad.mit.edu	37	2	198949863	198949863	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr2:198949863G>T	ENST00000428675.1	+	2	2020	c.1622G>T	c.(1621-1623)gGa>gTa	p.G541V	PLCL1_ENST00000437704.2_Missense_Mutation_p.G443V	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	541	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.G541V(2)|p.G443V(2)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	ATTGTGAAAGGAAAGAAGTTG	0.388																																							uc010fsp.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(1)|skin(1)	2						c.(1621-1623)GGA>GTA		RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;	Quinacrine(DB01103)						55.0	54.0	54.0					2																	198949863		2203	4300	6503	SO:0001583	missense	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198949863G>T	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.1622G>T	2.37:g.198949863G>T	ENSP00000402861:p.Gly541Val					PLCL1_uc002uuv.3_Missense_Mutation_p.G462V	p.G541V	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN			2	1913	+			541			PI-PLC X-box.		Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	ENST00000428675.1	37	c.1622G>T	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	G	19.64	3.865069	0.71949	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.61158	0.13;0.13	5.94	5.94	0.96194	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.000000	0.64402	D	0.000003	T	0.70780	0.3263	L	0.42487	1.325	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.72075	0.976;0.976	T	0.65425	-0.6171	9	.	.	.	.	20.3632	0.98871	0.0:0.0:1.0:0.0	.	541;467	Q15111;B4DYZ4	PLCL1_HUMAN;.	V	541;443	ENSP00000402861:G541V;ENSP00000414138:G443V	.	G	+	2	0	PLCL1	198658108	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.890000	0.87313	2.826000	0.97356	0.561000	0.74099	GGA		0.388	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		10	93	1	0	1.76689e-08	0.006214	1.98205e-08	10	93				
C2orf47	79568	broad.mit.edu	37	2	200824033	200824033	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr2:200824033G>C	ENST00000392290.1	+	2	689	c.493G>C	c.(493-495)Gat>Cat	p.D165H	C2orf47_ENST00000469156.1_3'UTR|C2orf47_ENST00000295079.2_Missense_Mutation_p.D165H			Q8WWC4	CB047_HUMAN	chromosome 2 open reading frame 47	165						mitochondrion (GO:0005739)		p.D165H(2)		cervix(1)|endometrium(2)|large_intestine(1)|lung(5)	9						GTGTAAATTTGATCTGTTGGA	0.323																																							uc002uvm.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(493-495)GAT>CAT		hypothetical protein LOC79568 precursor							159.0	161.0	160.0					2																	200824033		2203	4300	6503	SO:0001583	missense	79568					mitochondrion		g.chr2:200824033G>C	BC017959	CCDS2329.1	2q33.1	2011-03-08			ENSG00000162972	ENSG00000162972			26198	protein-coding gene	gene with protein product						12477932	Standard	NM_024520		Approved	DKFZp666A212, FLJ22555	uc002uvm.3	Q8WWC4	OTTHUMG00000132771	ENST00000392290.1:c.493G>C	2.37:g.200824033G>C	ENSP00000376111:p.Asp165His						p.D165H	NM_024520	NP_078796	Q8WWC4	CB047_HUMAN			3	815	+			165					Q658V9|Q9H671	Missense_Mutation	SNP	ENST00000392290.1	37	c.493G>C	CCDS2329.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.9|25.9	4.686560|4.686560	0.88639|0.88639	.|.	.|.	ENSG00000162972|ENSG00000162972	ENST00000295079;ENST00000392290|ENST00000435773	T;T|.	0.23552|.	1.9;1.9|.	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	0.094831|.	0.64402|.	D|.	0.000001|.	T|T	0.73094|0.73094	0.3543|0.3543	L|L	0.58101|0.58101	1.795|1.795	0.80722|0.80722	D|D	1|1	D|.	0.61697|.	0.99|.	P|.	0.54060|.	0.741|.	T|T	0.69105|0.69105	-0.5233|-0.5233	10|5	0.72032|.	D|.	0.01|.	-16.6899|-16.6899	19.5301|19.5301	0.95225|0.95225	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	165|.	Q8WWC4|.	CB047_HUMAN|.	H|F	165|157	ENSP00000295079:D165H;ENSP00000376111:D165H|.	ENSP00000295079:D165H|.	D|L	+|+	1|3	0|2	C2orf47|C2orf47	200532278|200532278	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	8.764000|8.764000	0.91719|0.91719	2.703000|2.703000	0.92315|0.92315	0.655000|0.655000	0.94253|0.94253	GAT|TTG		0.323	C2orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256146.1	NM_024520		18	136	0	0	0	0.008871	0	18	136				
CPS1	1373	broad.mit.edu	37	2	211542708	211542708	+	Nonstop_Mutation	SNP	A	A	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr2:211542708A>G	ENST00000233072.5	+	38	4698	c.4502A>G	c.(4501-4503)tAg>tGg	p.*1501W	CPS1_ENST00000430249.2_Nonstop_Mutation_p.*1507W|CPS1_ENST00000451903.2_Nonstop_Mutation_p.*1050W	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	0					anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)	p.*1501W(2)|p.*1507W(2)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	AAAGCAGCATAGAGATGCAGA	0.433																																							uc002vee.3		NA																	4	Nonstop extension(4)		lung(4)	ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13						c.(4501-4503)TAG>TGG		carbamoyl-phosphate synthetase 1 isoform b							112.0	119.0	117.0					2																	211542708		2203	4300	6503	SO:0001578	stop_lost	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211542708A>G	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.4502A>G	2.37:g.211542708A>G	ENSP00000233072:p.*1501Trpext*13					CPS1_uc010fur.2_Nonstop_Mutation_p.*1507W|CPS1_uc010fus.2_Nonstop_Mutation_p.*1050W	p.*1501W	NM_001875	NP_001866	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	38	4634	+			1501					B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Nonstop_Mutation	SNP	ENST00000233072.5	37	c.4502A>G	CCDS2393.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	7.942|7.942	0.742926|0.742926	0.15642|0.15642	.|.	.|.	ENSG00000021826|ENSG00000021826	ENST00000544169|ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	.|.	.|.	.|.	5.07|5.07	3.91|3.91	0.45181|0.45181	.|.	.|.	.|.	.|.	.|.	T|.	0.33411|.	0.0862|.	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.19128|.	-1.0315|.	5|.	0.87932|.	D|.	0|.	.|.	6.8463|6.8463	0.23990|0.23990	0.7717:0.1513:0.0769:0.0|0.7717:0.1513:0.0769:0.0	.|.	.|.	.|.	.|.	G|W	53|1507;1509;1501;1050	.|.	ENSP00000442790:R53G|.	R|X	+|+	1|2	2|0	CPS1|CPS1	211250953|211250953	1.000000|1.000000	0.71417|0.71417	0.011000|0.011000	0.14972|0.14972	0.016000|0.016000	0.09150|0.09150	2.393000|2.393000	0.44442|0.44442	0.947000|0.947000	0.37659|0.37659	0.533000|0.533000	0.62120|0.62120	AGA|TAG		0.433	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			51	204	0	0	0	0.00361	0	51	204				
ABCA12	26154	broad.mit.edu	37	2	215919366	215919366	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr2:215919366T>A	ENST00000272895.7	-	4	559	c.340A>T	c.(340-342)Aac>Tac	p.N114Y		NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	114					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)	p.N114Y(2)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTATCCAGGTTGGATGACTTT	0.393																																					Ovarian(66;664 1488 5121 34295)	Ovarian(66;664 1488 5121 34295)	uc002vew.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11						c.(340-342)AAC>TAC		ATP-binding cassette, sub-family A, member 12							186.0	181.0	183.0					2																	215919366		2203	4300	6503	SO:0001583	missense	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215919366T>A	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.340A>T	2.37:g.215919366T>A	ENSP00000272895:p.Asn114Tyr					ABCA12_uc010zjn.1_5'UTR	p.N114Y	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	4	560	-		Renal(323;0.127)	114					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.340A>T	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	T	14.91	2.675556	0.47781	.	.	ENSG00000144452	ENST00000272895	D	0.89050	-2.46	5.82	4.68	0.58851	.	0.682860	0.14410	N	0.321329	T	0.78084	0.4228	N	0.14661	0.345	0.80722	D	1	B	0.33448	0.412	B	0.27887	0.084	T	0.78188	-0.2301	10	0.72032	D	0.01	.	9.056	0.36405	0.0:0.0833:0.0:0.9167	.	114	Q86UK0	ABCAC_HUMAN	Y	114	ENSP00000272895:N114Y	ENSP00000272895:N114Y	N	-	1	0	ABCA12	215627611	1.000000	0.71417	0.996000	0.52242	0.916000	0.54674	1.926000	0.40084	2.227000	0.72691	0.455000	0.32223	AAC		0.393	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		27	231	0	0	0	0.00632	0	27	231				
OBSL1	23363	broad.mit.edu	37	2	220432056	220432056	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr2:220432056G>C	ENST00000404537.1	-	4	1832	c.1776C>G	c.(1774-1776)atC>atG	p.I592M	OBSL1_ENST00000603926.1_Missense_Mutation_p.I592M|OBSL1_ENST00000289656.3_Missense_Mutation_p.I179M|OBSL1_ENST00000373873.4_Missense_Mutation_p.I592M|OBSL1_ENST00000265318.4_Missense_Mutation_p.I592M|OBSL1_ENST00000373876.1_Missense_Mutation_p.I592M	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	592	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)	p.I592M(1)					Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		TGACTGTGCAGATGCGGAAGC	0.612																																							uc010fwk.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1774-1776)ATC>ATG		obscurin-like 1							39.0	49.0	46.0					2																	220432056		2183	4274	6457	SO:0001583	missense	23363				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity	g.chr2:220432056G>C	BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.1776C>G	2.37:g.220432056G>C	ENSP00000385636:p.Ile592Met					OBSL1_uc010fwl.1_Missense_Mutation_p.I67M|OBSL1_uc002vmi.2_Missense_Mutation_p.I592M|OBSL1_uc002vmj.2_Missense_Mutation_p.I179M	p.I592M	NM_015311	NP_056126	O75147	OBSL1_HUMAN		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)	4	1833	-		Renal(207;0.0376)	592			Fibronectin type-III.		A4KVA4|A4KVA5|Q96IW3|S4R3M6	Missense_Mutation	SNP	ENST00000404537.1	37	c.1776C>G	CCDS46520.1	.	.	.	.	.	.	.	.	.	.	G	4.274	0.050020	0.08243	.	.	ENSG00000124006	ENST00000265318;ENST00000404537;ENST00000373876;ENST00000373873;ENST00000289656	T;T;T;T;T	0.62232	0.27;0.18;0.14;0.04;0.6	4.87	3.0	0.34707	Fibronectin, type III (3);Immunoglobulin-like fold (1);	.	.	.	.	T	0.69522	0.3120	M	0.73962	2.25	0.30630	N	0.757635	B;B;B;P	0.36909	0.251;0.155;0.177;0.573	B;B;B;P	0.45071	0.177;0.221;0.131;0.468	T	0.70992	-0.4721	9	0.56958	D	0.05	.	13.9261	0.63964	0.0:0.4435:0.5565:0.0	.	593;592;179;592	A4KVA4;O75147;A8MSZ8;O75147-2	.;OBSL1_HUMAN;.;.	M	592;592;592;592;179	ENSP00000265318:I592M;ENSP00000385636:I592M;ENSP00000362983:I592M;ENSP00000362980:I592M;ENSP00000289656:I179M	ENSP00000265318:I592M	I	-	3	3	OBSL1	220140300	0.999000	0.42202	0.842000	0.33263	0.001000	0.01503	0.453000	0.21811	0.613000	0.30089	-0.175000	0.13238	ATC		0.612	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1			4	27	0	0	0	0.009096	0	4	27				
SP140	11262	broad.mit.edu	37	2	231109762	231109762	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr2:231109762G>A	ENST00000392045.3	+	6	745	c.631G>A	c.(631-633)Gaa>Aaa	p.E211K	SP140_ENST00000417495.3_Missense_Mutation_p.E211K|SP140_ENST00000343805.6_Missense_Mutation_p.E211K|SP140_ENST00000350136.5_Missense_Mutation_p.E191K|SP140_ENST00000486687.2_Missense_Mutation_p.E211K|SP140_ENST00000420434.3_Missense_Mutation_p.E211K	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein	211					defense response (GO:0006952)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.E211K(2)		NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AGGAGATGCTGAAGATGCACC	0.448																																							uc002vql.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(631-633)GAA>AAA		SP140 nuclear body protein isoform 1							126.0	118.0	120.0					2																	231109762		1940	4156	6096	SO:0001583	missense	11262				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:231109762G>A	U63420	CCDS33392.1, CCDS42831.1, CCDS63149.1, CCDS63150.1, CCDS63151.1	2q37.1	2013-01-28			ENSG00000079263	ENSG00000079263		"""Zinc fingers, PHD-type"""	17133	protein-coding gene	gene with protein product		608602				8695863, 8910577, 12368356	Standard	NM_001005176		Approved	LYSP100-B, LYSP100-A	uc002vql.3	Q13342	OTTHUMG00000153670	ENST00000392045.3:c.631G>A	2.37:g.231109762G>A	ENSP00000375899:p.Glu211Lys					SP140_uc010zma.1_RNA|SP140_uc002vqk.2_Missense_Mutation_p.E211K|SP140_uc002vqn.2_Missense_Mutation_p.E211K|SP140_uc002vqm.2_Missense_Mutation_p.E211K|SP140_uc010fxl.2_Missense_Mutation_p.E211K	p.E211K	NM_007237	NP_009168	Q13342	LY10_HUMAN		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	6	746	+		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)	211					E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	Missense_Mutation	SNP	ENST00000392045.3	37	c.631G>A	CCDS42831.1	.	.	.	.	.	.	.	.	.	.	G	11.25	1.584110	0.28268	.	.	ENSG00000079263	ENST00000486687;ENST00000392044;ENST00000350136;ENST00000392045;ENST00000417495;ENST00000343805;ENST00000420434	T;T;T;T;T	0.68331	0.47;0.82;0.61;-0.32;0.71	2.59	1.61	0.23674	.	.	.	.	.	T	0.43500	0.1250	N	0.12182	0.205	0.09310	N	1	P;B;B;B;P	0.46656	0.882;0.197;0.297;0.052;0.59	B;B;B;B;B	0.40534	0.332;0.024;0.053;0.032;0.078	T	0.27971	-1.0058	9	0.49607	T	0.09	-10.9641	4.7543	0.13075	0.2047:0.0:0.7953:0.0	.	211;211;211;211;211	E7EUR5;E7ESH9;E9PFJ6;Q13342;E7EX75	.;.;.;LY10_HUMAN;.	K	211;211;191;211;211;211;211	ENSP00000440107:E211K;ENSP00000345846:E191K;ENSP00000375899:E211K;ENSP00000342096:E211K;ENSP00000398210:E211K	ENSP00000342096:E211K	E	+	1	0	SP140	230818006	0.000000	0.05858	0.002000	0.10522	0.000000	0.00434	0.200000	0.17257	0.568000	0.29311	-0.366000	0.07423	GAA		0.448	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000332015.1	NM_007237		9	94	0	0	0	0.000978	0	9	94				
DSTN	11034	broad.mit.edu	37	20	17581487	17581487	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr20:17581487C>T	ENST00000246069.7	+	2	454	c.108C>T	c.(106-108)gtC>gtT	p.V36V	DSTN_ENST00000474024.1_Silent_p.V19V	NM_006870.3	NP_006861.1	P60981	DEST_HUMAN	destrin (actin depolymerizing factor)	36	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				actin filament depolymerization (GO:0030042)|actin filament severing (GO:0051014)|actin polymerization or depolymerization (GO:0008154)|cellular component movement (GO:0006928)|positive regulation of actin filament depolymerization (GO:0030836)	actin cytoskeleton (GO:0015629)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)		p.V36V(2)		endometrium(1)|large_intestine(5)|lung(8)|skin(1)	15						AGAAGGCTGTCATTTTTTGTC	0.393																																							uc002wpr.2		NA																	2	Substitution - coding silent(2)		lung(2)	large_intestine(1)|skin(1)	2						c.(106-108)GTC>GTT		destrin isoform a							87.0	84.0	85.0					20																	17581487		2203	4300	6503	SO:0001819	synonymous_variant	11034				actin filament severing|actin polymerization or depolymerization		actin binding	g.chr20:17581487C>T	S65738	CCDS13127.1, CCDS46580.1	20p12.1	2010-08-20			ENSG00000125868	ENSG00000125868			15750	protein-coding gene	gene with protein product		609114				8399167, 2156828	Standard	NM_006870		Approved	ADF, ACTDP	uc002wpr.3	P60981	OTTHUMG00000031947	ENST00000246069.7:c.108C>T	20.37:g.17581487C>T						DSTN_uc002wpq.2_Silent_p.V19V|DSTN_uc010gck.2_Silent_p.V19V	p.V36V	NM_006870	NP_006861	P60981	DEST_HUMAN			2	363	+			36			ADF-H.		B2R6N2|B4DYA6|P18282|Q5W166|Q6IAW2	Silent	SNP	ENST00000246069.7	37	c.108C>T	CCDS13127.1																																																																																				0.393	DSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078131.6	NM_001011546		34	78	0	0	0	0.002836	0	34	78				
MYLK2	85366	broad.mit.edu	37	20	30418929	30418929	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr20:30418929T>C	ENST00000375994.2	+	9	1682	c.1409T>C	c.(1408-1410)gTg>gCg	p.V470A	MYLK2_ENST00000375985.4_Missense_Mutation_p.V470A|MYLK2_ENST00000468730.1_3'UTR			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	470	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|neuromuscular synaptic transmission (GO:0007274)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of gene expression (GO:0010628)|protein autophosphorylation (GO:0046777)|regulation of muscle filament sliding (GO:0032971)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle satellite cell differentiation (GO:0014816)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)	p.V470A(2)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			AGTATGGGGGTGATCACCTAC	0.567																																							uc002wwq.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(2)|skin(2)|ovary(1)|central_nervous_system(1)	6						c.(1408-1410)GTG>GCG		skeletal myosin light chain kinase							101.0	101.0	101.0					20																	30418929		2203	4300	6503	SO:0001583	missense	85366				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	g.chr20:30418929T>C	AF325549	CCDS13191.1	20q13.31	2014-09-17	2008-01-23		ENSG00000101306	ENSG00000101306	2.7.11.18		16243	protein-coding gene	gene with protein product	"""skeletal muscle myosin light chain kinase"""	606566	"""myosin light chain kinase 2, skeletal muscle"""				Standard	NM_033118		Approved	skMLCK, KMLC, MLCK2	uc002wwq.2	Q9H1R3	OTTHUMG00000032194	ENST00000375994.2:c.1409T>C	20.37:g.30418929T>C	ENSP00000365162:p.Val470Ala					MYLK2_uc002wws.2_Missense_Mutation_p.V87A|MYLK2_uc010gdw.1_RNA	p.V470A	NM_033118	NP_149109	Q9H1R3	MYLK2_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		10	1511	+			470			Protein kinase.		Q569L1|Q96I84	Missense_Mutation	SNP	ENST00000375994.2	37	c.1409T>C	CCDS13191.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.008484	0.75046	.	.	ENSG00000101306	ENST00000375994;ENST00000375985	T;T	0.50813	0.73;0.73	3.94	3.94	0.45596	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.64681	0.2620	M	0.69248	2.105	0.53688	D	0.999974	D	0.89917	1.0	D	0.97110	1.0	T	0.68685	-0.5343	9	0.87932	D	0	.	12.0531	0.53518	0.0:0.0:0.0:1.0	.	470	Q9H1R3	MYLK2_HUMAN	A	470	ENSP00000365162:V470A;ENSP00000365152:V470A	ENSP00000365152:V470A	V	+	2	0	MYLK2	29882590	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.730000	0.84881	1.756000	0.51951	0.448000	0.29417	GTG		0.567	MYLK2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078583.2	NM_033118		40	143	0	0	0	0.003214	0	40	143				
DPM1	8813	broad.mit.edu	37	20	49575979	49575979	+	5'Flank	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr20:49575979C>T	ENST00000371588.5	-	0	0				DPM1_ENST00000371583.5_5'Flank|MOCS3_ENST00000244051.1_Silent_p.L200L|DPM1_ENST00000466152.1_5'Flank|DPM1_ENST00000371582.4_5'Flank	NM_003859.1	NP_003850.1	O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit						C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose metabolic process (GO:0019673)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|protein mannosylation (GO:0035268)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked mannosylation (GO:0035269)	dolichol-phosphate-mannose synthase complex (GO:0033185)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nucleus (GO:0005634)	alcohol binding (GO:0043178)|dolichyl-phosphate beta-D-mannosyltransferase activity (GO:0004582)|dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannose binding (GO:0005537)	p.L200L(2)		endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						GTCGGCCCCTCGTGTCTGCCA	0.602																																							uc002xvy.1		NA																	2	Substitution - coding silent(2)		lung(2)	skin(2)|ovary(1)	3						c.(598-600)CTC>CTT		molybdenum cofactor synthesis 3							53.0	50.0	51.0					20																	49575979		2203	4300	6503	SO:0001631	upstream_gene_variant	27304				enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity	g.chr20:49575979C>T	AF007875	CCDS13434.1	20q13.1	2013-02-26			ENSG00000000419	ENSG00000000419	2.4.1.83	"""Glycosyltransferase family 2 domain containing"""	3005	protein-coding gene	gene with protein product	"""DPM synthase complex, catalytic subunit"""	603503				9223280, 9535917	Standard	NM_003859		Approved	MPDS, CDGIE	uc002xvw.1	O60762	OTTHUMG00000032742		20.37:g.49575979C>T	Exception_encountered					DPM1_uc002xvw.1_5'Flank|DPM1_uc002xvx.1_5'Flank	p.L200L	NM_014484	NP_055299	O95396	MOCS3_HUMAN			1	617	+			200					O15157|Q6IB78|Q96HK0	Silent	SNP	ENST00000371588.5	37	c.600C>T	CCDS13434.1																																																																																				0.602	DPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079716.1	NM_003859		19	79	0	0	0	0.006122	0	19	79				
CHRNA4	1137	broad.mit.edu	37	20	61982028	61982028	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr20:61982028G>T	ENST00000370263.4	-	5	956	c.735C>A	c.(733-735)ttC>ttA	p.F245L	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	245					action potential (GO:0001508)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cognition (GO:0050890)|DNA repair (GO:0006281)|exploration behavior (GO:0035640)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|neurological system process (GO:0050877)|regulation of dopamine secretion (GO:0014059)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)	p.F245L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	TGATGGTGTAGAAGAGCGGCA	0.592																																							uc002yes.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(733-735)TTC>TTA		cholinergic receptor, nicotinic, alpha 4 subunit	Nicotine(DB00184)|Varenicline(DB01273)						237.0	183.0	201.0					20																	61982028		2203	4299	6502	SO:0001583	missense	1137				B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr20:61982028G>T		CCDS13517.1	20q13.33	2013-09-20	2012-02-07		ENSG00000101204	ENSG00000101204		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1958	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 4 (neuronal)"""	118504	"""cholinergic receptor, nicotinic, alpha polypeptide 4"""	EBN, EBN1		1505988	Standard	NM_000744		Approved	BFNC	uc002yes.3	P43681	OTTHUMG00000033080	ENST00000370263.4:c.735C>A	20.37:g.61982028G>T	ENSP00000359285:p.Phe245Leu					CHRNA4_uc002yet.1_Missense_Mutation_p.F69L|CHRNA4_uc011aaw.1_RNA|CHRNA4_uc010gke.1_Missense_Mutation_p.F174L|CHRNA4_uc002yev.1_Missense_Mutation_p.F69L|CHRNA4_uc010gkf.1_Missense_Mutation_p.F69L	p.F245L	NM_000744	NP_000735	P43681	ACHA4_HUMAN			5	913	-	all_cancers(38;1.71e-10)		245			Helical; (Potential).		Q4JGR7|Q4VAQ5|Q4VAQ6	Missense_Mutation	SNP	ENST00000370263.4	37	c.735C>A	CCDS13517.1	.	.	.	.	.	.	.	.	.	.	G	18.46	3.627905	0.66901	.	.	ENSG00000101204	ENST00000370258;ENST00000370263;ENST00000539366	T	0.76186	-1.0	5.15	2.83	0.33086	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.84911	0.5577	M	0.83118	2.625	0.80722	D	1	D;D	0.89917	0.992;1.0	D;D	0.72075	0.945;0.976	D	0.86445	0.1769	10	0.87932	D	0	.	11.2634	0.49095	0.228:0.0:0.772:0.0	.	174;245	Q4VAQ5;P43681	.;ACHA4_HUMAN	L	151;245;174	ENSP00000359285:F245L	ENSP00000359280:F151L	F	-	3	2	CHRNA4	61452472	1.000000	0.71417	0.997000	0.53966	0.580000	0.36256	5.530000	0.67141	1.167000	0.42706	-0.136000	0.14681	TTC		0.592	CHRNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080508.3			13	58	1	0	1.67942e-08	0.006122	1.8909e-08	13	58				
RTEL1	51750	broad.mit.edu	37	20	62321110	62321110	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr20:62321110C>G	ENST00000360203.5	+	24	2358	c.2033C>G	c.(2032-2034)tCt>tGt	p.S678C	RTEL1_ENST00000508582.2_Missense_Mutation_p.S702C|RTEL1_ENST00000370018.3_Missense_Mutation_p.S678C|RTEL1_ENST00000370003.1_5'Flank|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.S678C|RTEL1_ENST00000318100.4_Missense_Mutation_p.S678C					regulator of telomere elongation helicase 1									p.S678C(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CAGTTCCTCTCTGGGCAGGAG	0.697																																							uc002yfu.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(2032-2034)TCT>TGT		regulator of telomere elongation helicase 1							32.0	35.0	34.0					20																	62321110		2194	4290	6484	SO:0001583	missense	51750				DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding	g.chr20:62321110C>G	AB029011	CCDS13530.2, CCDS13531.1, CCDS13530.3, CCDS63331.1, CCDS74751.1	20q13.3	2012-06-27	2004-10-29	2004-10-29	ENSG00000258366	ENSG00000258366			15888	protein-coding gene	gene with protein product		608833	"""chromosome 20 open reading frame 41"""	C20orf41		10655513, 15210109	Standard	NM_016434		Approved	bK3184A7.3, NHL, DKFZP434C013, KIAA1088, RTEL	uc011abd.2	Q9NZ71	OTTHUMG00000032992	ENST00000360203.5:c.2033C>G	20.37:g.62321110C>G	ENSP00000353332:p.Ser678Cys					RTEL1_uc011abc.1_RNA|RTEL1_uc002yft.1_Missense_Mutation_p.S678C|RTEL1_uc011abd.1_Missense_Mutation_p.S702C|RTEL1_uc011abe.1_Missense_Mutation_p.S455C|RTEL1_uc002yfw.2_RNA|RTEL1_uc002yfx.1_5'UTR	p.S678C	NM_016434	NP_057518	Q9NZ71	RTEL1_HUMAN	Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)		24	2376	+	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		678						Missense_Mutation	SNP	ENST00000360203.5	37	c.2033C>G		.	.	.	.	.	.	.	.	.	.	C	17.68	3.449646	0.63178	.	.	ENSG00000258366	ENST00000370018;ENST00000318100;ENST00000508582;ENST00000360203;ENST00000425905	D;D;D;D;D	0.92446	-1.76;-1.77;-1.72;-1.76;-3.04	4.61	4.61	0.57282	Helicase, ATP-dependent, c2 type (1);	0.348103	0.30830	N	0.008788	D	0.95345	0.8489	M	0.82630	2.6	0.45056	D	0.998076	P;P;P	0.52316	0.937;0.952;0.925	P;P;P	0.56398	0.615;0.797;0.587	D	0.96124	0.9087	10	0.87932	D	0	-20.6742	17.2099	0.86928	0.0:1.0:0.0:0.0	.	702;678;678	Q9NZ71-7;Q9NZ71;Q9NZ71-6	.;RTEL1_HUMAN;.	C	678;678;702;678;71	ENSP00000359035:S678C;ENSP00000322287:S678C;ENSP00000424307:S702C;ENSP00000353332:S678C;ENSP00000388063:S71C	ENSP00000353332:S678C	S	+	2	0	AL353715.1	61791554	1.000000	0.71417	0.987000	0.45799	0.445000	0.32107	5.683000	0.68189	2.403000	0.81681	0.563000	0.77884	TCT		0.697	RTEL1-011	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000289781.1	NM_032957		4	55	0	0	0	0.001168	0	4	55				
PCMTD2	55251	broad.mit.edu	37	20	62896764	62896764	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr20:62896764C>T	ENST00000308824.6	+	4	691	c.564C>T	c.(562-564)gtC>gtT	p.V188V	PCMTD2_ENST00000609372.1_Intron|PCMTD2_ENST00000299468.7_Silent_p.V188V|PCMTD2_ENST00000369758.4_Silent_p.V188V	NM_018257.2	NP_060727.2	Q9NV79	PCMD2_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2	188						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)	p.V188V(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1)	17	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GGATCCTTGTCATGCCACTGG	0.468																																							uc002yil.3		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(562-564)GTC>GTT		protein-L-isoaspartate (D-aspartate)							146.0	125.0	132.0					20																	62896764		2203	4300	6503	SO:0001819	synonymous_variant	55251					cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	g.chr20:62896764C>T	AK001745	CCDS13559.1, CCDS46631.1	20q13.33	2012-10-02	2005-10-06	2005-10-06	ENSG00000203880	ENSG00000203880			15882	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 36"""	C20orf36			Standard	NM_018257		Approved	FLJ10883	uc002yil.4	Q9NV79	OTTHUMG00000033029	ENST00000308824.6:c.564C>T	20.37:g.62896764C>T						PCMTD2_uc002yim.3_Silent_p.V188V	p.V188V	NM_018257	NP_060727	Q9NV79	PCMD2_HUMAN			4	764	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		188					E1P5H3|Q8IW60|Q9H4K2	Silent	SNP	ENST00000308824.6	37	c.564C>T	CCDS13559.1																																																																																				0.468	PCMTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080301.1	NM_018257		20	100	0	0	0	0.007413	0	20	100				
KRTAP23-1	337963	broad.mit.edu	37	21	31720897	31720897	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr21:31720897A>C	ENST00000334160.4	-	1	27	c.28T>G	c.(28-30)Ttc>Gtc	p.F10V		NM_181624.1	NP_853655.1	A1A580	KR231_HUMAN	keratin associated protein 23-1	10						intermediate filament (GO:0005882)		p.F10V(2)		large_intestine(1)|lung(4)|prostate(1)	6						TGGGAGGAGAAGTTTCCACAG	0.537																																							uc002yny.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(28-30)TTC>GTC		keratin associated protein 23-1							179.0	135.0	150.0					21																	31720897		2203	4300	6503	SO:0001583	missense	337963					intermediate filament		g.chr21:31720897A>C	AP001708	CCDS33533.1	21q22.1	2008-05-21			ENSG00000186980	ENSG00000186980		"""Keratin associated proteins"""	18928	protein-coding gene	gene with protein product						12359730	Standard	NM_181624		Approved	KAP23.1	uc002yny.1	A1A580	OTTHUMG00000057792	ENST00000334160.4:c.28T>G	21.37:g.31720897A>C	ENSP00000346536:p.Phe10Val						p.F10V	NM_181624	NP_853655	A1A580	KR231_HUMAN			1	28	-			10						Missense_Mutation	SNP	ENST00000334160.4	37	c.28T>G	CCDS33533.1	.	.	.	.	.	.	.	.	.	.	A	3.928	-0.016659	0.07681	.	.	ENSG00000186980	ENST00000334160	T	0.03441	3.93	4.21	0.0607	0.14337	.	.	.	.	.	T	0.03651	0.0104	.	.	.	0.23425	N	0.99771	B	0.32862	0.387	B	0.34873	0.191	T	0.41378	-0.9512	8	0.87932	D	0	.	5.3461	0.16010	0.4777:0.3523:0.0:0.1701	.	10	A1A580	KR231_HUMAN	V	10	ENSP00000346536:F10V	ENSP00000346536:F10V	F	-	1	0	KRTAP23-1	30642768	0.584000	0.26766	0.967000	0.41034	0.023000	0.10783	0.567000	0.23608	-0.084000	0.12595	-0.313000	0.08912	TTC		0.537	KRTAP23-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128244.4			7	98	0	0	0	0.00308	0	7	98				
GGT1	2678	broad.mit.edu	37	22	24985872	24985872	+	Intron	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr22:24985872C>G	ENST00000248923.4	+	1	59				FAM211B_ENST00000318753.8_Missense_Mutation_p.D75H|FAM211B_ENST00000495297.1_5'UTR	NM_013430.2	NP_038347.2	P19440	GGT1_HUMAN	gamma-glutamyltransferase 1						arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|cysteine biosynthetic process (GO:0019344)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione catabolic process (GO:0006751)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|regulation of immune system process (GO:0002682)|regulation of inflammatory response (GO:0050727)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|xenobiotic metabolic process (GO:0006805)|zymogen activation (GO:0031638)	anchored component of external side of plasma membrane (GO:0031362)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)	p.D75H(1)		breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	AAGGCCACATCTCTGTAGAGG	0.607																																							uc003aaq.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(223-225)GAT>CAT		hypothetical protein LOC388886							63.0	68.0	66.0					22																	24985872		2000	4169	6169	SO:0001627	intron_variant	388886							g.chr22:24985872C>G	M24903	CCDS42992.1	22q11.23	2008-08-15			ENSG00000100031	ENSG00000100031	2.3.2.2	"""CD molecules"", ""Gamma-glutamyltransferases"""	4250	protein-coding gene	gene with protein product		612346		GGT		8104871, 18357469	Standard	NM_001288833		Approved	D22S672, D22S732, CD224	uc003aan.1	P19440	OTTHUMG00000030859	ENST00000248923.4:c.-429+6096C>G	22.37:g.24985872C>G						GGT1_uc003aan.1_Intron|C22orf36_uc003aao.2_5'Flank|C22orf36_uc003aap.2_RNA	p.D75H	NM_207644	NP_997527	Q2VPJ9	LRC6X_HUMAN			2	252	-			75					Q08247|Q14404|Q8TBS1|Q9UMK1	Missense_Mutation	SNP	ENST00000248923.4	37	c.223G>C	CCDS42992.1	.	.	.	.	.	.	.	.	.	.	C	12.39	1.924422	0.34002	.	.	ENSG00000178026	ENST00000318753	T	0.43294	0.95	3.84	1.52	0.23074	.	0.137767	0.45361	U	0.000362	T	0.22244	0.0536	N	0.25647	0.755	0.27576	N	0.949737	B	0.06786	0.001	B	0.06405	0.002	T	0.09773	-1.0659	10	0.37606	T	0.19	.	1.1224	0.01728	0.1803:0.1174:0.1856:0.5167	.	75	Q2VPJ9	LRC6X_HUMAN	H	75	ENSP00000320520:D75H	ENSP00000320520:D75H	D	-	1	0	C22orf36	23315872	0.999000	0.42202	0.002000	0.10522	0.733000	0.41908	1.681000	0.37618	0.142000	0.18901	0.549000	0.68633	GAT		0.607	GGT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319110.1	NM_013430		9	48	0	0	0	0.008291	0	9	48				
SEZ6L	23544	broad.mit.edu	37	22	26771546	26771546	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr22:26771546G>A	ENST00000248933.6	+	15	2928	c.2833G>A	c.(2833-2835)Gaa>Aaa	p.E945K	SEZ6L_ENST00000402979.1_Missense_Mutation_p.E717K|SEZ6L_ENST00000403121.1_Missense_Mutation_p.E641K|SEZ6L_ENST00000343706.4_Missense_Mutation_p.E869K|SEZ6L_ENST00000360929.3_Missense_Mutation_p.E870K|SEZ6L_ENST00000529632.2_Missense_Mutation_p.E934K|SEZ6L_ENST00000494013.1_3'UTR|SEZ6L_ENST00000411842.2_Intron|SEZ6L_ENST00000404234.3_Missense_Mutation_p.E944K			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	945					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)		p.E945K(2)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						TTCAGTAGCAGAAGCGGCAGC	0.572																																							uc003acb.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|central_nervous_system(1)|pancreas(1)	6						c.(2833-2835)GAA>AAA		seizure related 6 homolog (mouse)-like							80.0	67.0	71.0					22																	26771546		2203	4300	6503	SO:0001583	missense	23544					endoplasmic reticulum membrane|integral to membrane		g.chr22:26771546G>A	AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"""seizure related gene 6 (mouse)-like"""				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.2833G>A	22.37:g.26771546G>A	ENSP00000248933:p.Glu945Lys					SEZ6L_uc003acc.2_Missense_Mutation_p.E944K|SEZ6L_uc011akc.1_Missense_Mutation_p.E934K|SEZ6L_uc003acd.2_Missense_Mutation_p.E870K|SEZ6L_uc011akd.1_Splice_Site_p.E932_splice|SEZ6L_uc003ace.2_Missense_Mutation_p.E869K|SEZ6L_uc003acf.1_Missense_Mutation_p.E717K|SEZ6L_uc010gvc.1_Missense_Mutation_p.E641K|SEZ6L_uc011ake.1_Intron	p.E945K	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN			15	2989	+			945			Extracellular (Potential).		A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP	ENST00000248933.6	37	c.2833G>A	CCDS13833.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.345531	0.82022	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000343706;ENST00000403121;ENST00000402979	T;T;T;T;T;T;T	0.29397	1.94;2.06;2.2;1.95;1.61;1.57;1.91	5.33	5.33	0.75918	.	0.000000	0.64402	D	0.000019	T	0.28896	0.0717	N	0.03608	-0.345	0.80722	D	1	D;B;P;B;D;D	0.71674	0.998;0.038;0.743;0.426;0.998;0.998	D;B;B;B;D;D	0.79784	0.993;0.04;0.281;0.381;0.993;0.993	T	0.09015	-1.0694	10	0.02654	T	1	.	18.0393	0.89314	0.0:0.0:1.0:0.0	.	934;641;869;870;944;945	B7ZLJ6;B0QYH4;Q9BYH1-5;Q9BYH1-4;B0QYG3;Q9BYH1	.;.;.;.;.;SE6L1_HUMAN	K	944;934;870;945;869;641;717	ENSP00000384772:E944K;ENSP00000437037:E934K;ENSP00000354185:E870K;ENSP00000248933:E945K;ENSP00000342661:E869K;ENSP00000384838:E641K;ENSP00000384733:E717K	ENSP00000248933:E945K	E	+	1	0	SEZ6L	25101546	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.457000	0.90361	2.502000	0.84385	0.555000	0.69702	GAA		0.572	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3			6	44	0	0	0	0.00308	0	6	44				
GCAT	23464	broad.mit.edu	37	22	38211697	38211697	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr22:38211697T>C	ENST00000248924.6	+	7	898	c.842T>C	c.(841-843)cTg>cCg	p.L281P	GCAT_ENST00000323205.6_Missense_Mutation_p.L307P	NM_014291.3	NP_055106.1	O75600	KBL_HUMAN	glycine C-acetyltransferase	281					biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)|L-threonine catabolic process to glycine (GO:0019518)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	glycine C-acetyltransferase activity (GO:0008890)|pyridoxal phosphate binding (GO:0030170)	p.L281P(2)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)	CCTGGGCCCCTGGTGTCCCTG	0.652																																							uc003atz.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(841-843)CTG>CCG		glycine C-acetyltransferase precursor	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)						60.0	69.0	66.0					22																	38211697		2203	4300	6503	SO:0001583	missense	23464				biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr22:38211697T>C	AF077740	CCDS13957.1, CCDS54527.1	22q13.1	2010-01-19	2010-01-19		ENSG00000100116	ENSG00000100116	2.3.1.29		4188	protein-coding gene	gene with protein product	"""2-amino-3-ketobutyrate coenzyme A ligase"""	607422	"""glycine C-acetyltransferase (2-amino-3-ketobutyrate coenzyme A ligase)"""				Standard	NM_014291		Approved	KBL	uc003aua.2	O75600	OTTHUMG00000150664	ENST00000248924.6:c.842T>C	22.37:g.38211697T>C	ENSP00000248924:p.Leu281Pro					GCAT_uc003aua.1_Missense_Mutation_p.L307P	p.L281P	NM_014291	NP_055106	O75600	KBL_HUMAN			7	862	+	Melanoma(58;0.045)		281					E2QC23|Q6ZWF1|Q96CA9	Missense_Mutation	SNP	ENST00000248924.6	37	c.842T>C	CCDS13957.1	.	.	.	.	.	.	.	.	.	.	T	18.84	3.708536	0.68615	.	.	ENSG00000100116	ENST00000323205;ENST00000248924	D;D	0.92099	-2.97;-2.97	4.72	4.72	0.59763	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.64402	D	0.000001	D	0.97108	0.9055	H	0.95224	3.64	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.77004	0.989;0.98	D	0.98247	1.0491	10	0.87932	D	0	-10.7251	14.3637	0.66789	0.0:0.0:0.0:1.0	.	307;281	E2QC23;O75600	.;KBL_HUMAN	P	307;281	ENSP00000371110:L307P;ENSP00000248924:L281P	ENSP00000248924:L281P	L	+	2	0	GCAT	36541643	1.000000	0.71417	0.984000	0.44739	0.616000	0.37450	7.251000	0.78297	1.987000	0.57996	0.459000	0.35465	CTG		0.652	GCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319506.1	NM_014291.2		23	191	0	0	0	0.002299	0	23	191				
MGAT3	4248	broad.mit.edu	37	22	39883979	39883979	+	Missense_Mutation	SNP	C	C	G	rs369542837		TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr22:39883979C>G	ENST00000341184.6	+	2	842	c.627C>G	c.(625-627)atC>atG	p.I209M		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	209					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0003830)	p.I209M(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					GCCGCGTCATCAACGCCATCA	0.657																																							uc003axv.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(625-627)ATC>ATG		mannosyl (beta-1,4-)-glycoprotein							40.0	32.0	35.0					22																	39883979		2203	4300	6503	SO:0001583	missense	4248				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity	g.chr22:39883979C>G	D13789	CCDS13994.2	22q13.1	2013-02-25			ENSG00000128268	ENSG00000128268	2.4.1.144	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7046	protein-coding gene	gene with protein product		604621				8370666	Standard	NM_002409		Approved	GNT-III	uc010gxy.3	Q09327	OTTHUMG00000030185	ENST00000341184.6:c.627C>G	22.37:g.39883979C>G	ENSP00000345270:p.Ile209Met					MGAT3_uc010gxy.2_Missense_Mutation_p.I209M	p.I209M	NM_002409	NP_002400	Q09327	MGAT3_HUMAN			2	866	+	Melanoma(58;0.04)		209			Lumenal (Potential).		A6NGD0|Q14CK5|Q6IC49|Q9UH32	Missense_Mutation	SNP	ENST00000341184.6	37	c.627C>G	CCDS13994.2	.	.	.	.	.	.	.	.	.	.	C	16.20	3.055054	0.55325	.	.	ENSG00000128268	ENST00000341184	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.72399	0.3455	M	0.72894	2.215	0.38545	D	0.949322	D	0.89917	1.0	D	0.81914	0.995	T	0.76498	-0.2937	9	0.72032	D	0.01	.	10.2296	0.43247	0.0:0.8535:0.0:0.1465	.	209	Q09327	MGAT3_HUMAN	M	209	.	ENSP00000345270:I209M	I	+	3	3	MGAT3	38213925	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	1.833000	0.39161	2.697000	0.92050	0.655000	0.94253	ATC		0.657	MGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075039.2	NM_002409		4	20	0	0	0	0.009096	0	4	20				
BRD1	23774	broad.mit.edu	37	22	50192686	50192686	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr22:50192686G>A	ENST00000216267.8	-	3	2092	c.1606C>T	c.(1606-1608)Cgc>Tgc	p.R536C	BRD1_ENST00000404034.1_Missense_Mutation_p.R536C|BRD1_ENST00000404760.1_Missense_Mutation_p.R536C|BRD1_ENST00000542442.1_Missense_Mutation_p.R229C|BRD1_ENST00000342989.5_Missense_Mutation_p.R131C|BRD1_ENST00000457780.2_Missense_Mutation_p.R536C	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	536					histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)	p.R536C(2)|p.R131C(2)		endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		ATCAGCAGGCGAGCGCGCTCC	0.622																																							uc003biv.2		NA																	4	Substitution - Missense(4)		lung(4)	pancreas(1)	1						c.(1606-1608)CGC>TGC		bromodomain containing protein 1							50.0	48.0	49.0					22																	50192686		2203	4300	6503	SO:0001583	missense	23774				histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding	g.chr22:50192686G>A	AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"""BR140-like"""	604589	"""bromodomain-containing 1"""			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.1606C>T	22.37:g.50192686G>A	ENSP00000216267:p.Arg536Cys					BRD1_uc011arf.1_Missense_Mutation_p.R131C|BRD1_uc011arg.1_Missense_Mutation_p.R590C|BRD1_uc011arh.1_Missense_Mutation_p.R536C|BRD1_uc003biu.3_Missense_Mutation_p.R536C	p.R536C	NM_014577	NP_055392	O95696	BRD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)	3	2093	-		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)	536					A6ZJA4	Missense_Mutation	SNP	ENST00000216267.8	37	c.1606C>T	CCDS14080.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.967653	0.53507	.	.	ENSG00000100425	ENST00000216267;ENST00000404034;ENST00000404760;ENST00000457780;ENST00000542442;ENST00000342989	T;T;T;T;T;T	0.46063	2.11;2.11;2.0;1.85;0.88;1.29	4.39	3.29	0.37713	.	0.000000	0.85682	D	0.000000	T	0.68979	0.3060	M	0.89840	3.065	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.77611	-0.2523	10	0.87932	D	0	.	14.0654	0.64826	0.0:0.0:0.8493:0.1507	.	536;131;536;536	Q86X06;B7Z926;O95696;O95696-2	.;.;BRD1_HUMAN;.	C	536;536;536;536;229;131	ENSP00000216267:R536C;ENSP00000384076:R536C;ENSP00000385858:R536C;ENSP00000410042:R536C;ENSP00000437514:R229C;ENSP00000345886:R131C	ENSP00000216267:R536C	R	-	1	0	BRD1	48578690	0.999000	0.42202	0.400000	0.26346	0.728000	0.41692	2.789000	0.47813	2.171000	0.68590	0.655000	0.94253	CGC		0.622	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317402.1	NM_014577		5	36	0	0	0	0.000602	0	5	36				
TYMP	1890	broad.mit.edu	37	22	50967929	50967929	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr22:50967929C>A	ENST00000252029.3	-	2	372	c.210G>T	c.(208-210)caG>caT	p.Q70H	TYMP_ENST00000395678.3_Missense_Mutation_p.Q70H|TYMP_ENST00000395680.1_Missense_Mutation_p.Q70H|TYMP_ENST00000395681.1_Missense_Mutation_p.Q70H	NM_001113755.2|NM_001113756.2|NM_001257988.1|NM_001257989.1|NM_001953.4	NP_001107227.1|NP_001107228.1|NP_001244917.1|NP_001244918.1|NP_001944.1	P19971	TYPH_HUMAN	thymidine phosphorylase	70					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|chemotaxis (GO:0006935)|DNA replication (GO:0006260)|mitochondrial genome maintenance (GO:0000002)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphorylase activity (GO:0004645)|platelet-derived growth factor receptor binding (GO:0005161)|pyrimidine-nucleoside phosphorylase activity (GO:0016154)|thymidine phosphorylase activity (GO:0009032)|transferase activity, transferring pentosyl groups (GO:0016763)	p.Q70H(1)		large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	Capecitabine(DB01101)|Cidofovir(DB00369)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Trifluridine(DB00432)	ACGCACCGATCTGTGCGCCCT	0.682																																							uc003bmb.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(208-210)CAG>CAT		endothelial cell growth factor 1	Capecitabine(DB01101)|Docetaxel(DB01248)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Sulfasalazine(DB00795)|Tamoxifen(DB00675)						40.0	45.0	43.0					22																	50967929		2202	4297	6499	SO:0001583	missense	1890				angiogenesis|cell differentiation|chemotaxis|DNA replication|mitochondrial genome maintenance|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol	growth factor activity|platelet-derived growth factor receptor binding|pyrimidine-nucleoside phosphorylase activity|thymidine phosphorylase activity	g.chr22:50967929C>A	M63193	CCDS14096.1, CCDS58811.1	22q13	2014-09-17	2008-01-21	2008-01-21	ENSG00000025708	ENSG00000025708	2.4.2.4		3148	protein-coding gene	gene with protein product	"""gliostatin"""	131222	"""endothelial cell growth factor 1 (platelet-derived)"""	MNGIE, ECGF1		1590793, 11733540	Standard	NM_001113755		Approved		uc003bme.5	P19971	OTTHUMG00000150249	ENST00000252029.3:c.210G>T	22.37:g.50967929C>A	ENSP00000252029:p.Gln70His					TYMP_uc003bmc.3_Missense_Mutation_p.Q70H|TYMP_uc003bmd.3_Missense_Mutation_p.Q70H|TYMP_uc010hbd.2_Missense_Mutation_p.Q70H|TYMP_uc003bme.3_Missense_Mutation_p.Q70H|TYMP_uc003bmf.3_Missense_Mutation_p.Q70H|TYMP_uc011arz.1_Missense_Mutation_p.Q70H	p.Q70H	NM_001113756	NP_001107228	P19971	TYPH_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	1	330	-		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	70					A8MW15|H9KVA0|Q13390|Q8WVB7	Missense_Mutation	SNP	ENST00000252029.3	37	c.210G>T	CCDS14096.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.835117	0.91117	.	.	ENSG00000025708	ENST00000395680;ENST00000395681;ENST00000252029;ENST00000395678;ENST00000425169	D;D;D;D;D	0.95377	-3.69;-3.69;-3.69;-3.69;-3.69	4.77	-0.268	0.12934	Glycosyl transferase, family 3, N-terminal (2);Glycosyl transferase, family 3, subgroup, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95921	0.8672	M	0.69358	2.11	0.39077	D	0.960837	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;1.0	D	0.93119	0.6523	10	0.87932	D	0	-1.4645	5.0489	0.14497	0.0:0.5609:0.1678:0.2713	.	70;70;70;70	B4DVR2;B2RBL3;E5KRG5;P19971	.;.;.;TYPH_HUMAN	H	70	ENSP00000379037:Q70H;ENSP00000379038:Q70H;ENSP00000252029:Q70H;ENSP00000379036:Q70H;ENSP00000395875:Q70H	ENSP00000252029:Q70H	Q	-	3	2	TYMP	49314795	0.952000	0.32445	0.240000	0.24138	0.748000	0.42578	-0.105000	0.10907	-0.322000	0.08615	0.448000	0.29417	CAG		0.682	TYMP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317081.1	NM_001953		8	100	1	0	0.000442599	0.006214	0.000465572	8	100				
MLH1	4292	broad.mit.edu	37	3	37059088	37059088	+	Silent	SNP	C	C	T	rs587779050|rs63751707|rs267607800		TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr3:37059088C>T	ENST00000231790.2	+	10	1098	c.882C>T	c.(880-882)ctC>ctT	p.L294L	MLH1_ENST00000539477.1_Silent_p.L53L|MLH1_ENST00000455445.2_Silent_p.L53L|MLH1_ENST00000435176.1_Silent_p.L196L|MLH1_ENST00000458205.2_Silent_p.L53L|MLH1_ENST00000536378.1_Silent_p.L53L	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	294			Missing (in HNPCC2).		ATP catabolic process (GO:0006200)|double-strand break repair via nonhomologous end joining (GO:0006303)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|male meiosis chromosome segregation (GO:0007060)|meiotic metaphase I plate congression (GO:0043060)|mismatch repair (GO:0006298)|negative regulation of mitotic recombination (GO:0045950)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|oogenesis (GO:0048477)|resolution of meiotic recombination intermediates (GO:0000712)|somatic hypermutation of immunoglobulin genes (GO:0016446)|spermatogenesis (GO:0007283)|spindle midzone assembly involved in meiosis (GO:0051257)|synapsis (GO:0007129)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|guanine/thymine mispair binding (GO:0032137)	p.L294L(2)|p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						TCCTGTACCTCAGGTAATGTA	0.418		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																														uc003cgl.2		1	yes	Rec	yes	"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	3	3p21.3	4292	D|Mis|N|F|S	E.coli MutL homolog gene			"""E, O"""		colorectal|endometrial|ovarian|CNS	colorectal|endometrial|ovarian|CNS		3	Substitution - coding silent(2)|Whole gene deletion(1)	p.0?(1)	lung(2)|ovary(1)	large_intestine(40)|haematopoietic_and_lymphoid_tissue(8)|ovary(6)|pancreas(5)|stomach(3)|central_nervous_system(3)|endometrium(3)|breast(3)|prostate(3)|skin(2)|NS(1)	77	GRCh37	CS086119	MLH1	S		c.(880-882)CTC>CTT	MMR	MutL protein homolog 1							185.0	163.0	171.0					3																	37059088		2203	4300	6503	SO:0001819	synonymous_variant	4292	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	g.chr3:37059088C>T	U07418	CCDS2663.1, CCDS54562.1, CCDS54563.1	3p22.3	2014-09-17	2013-09-12		ENSG00000076242	ENSG00000076242			7127	protein-coding gene	gene with protein product		120436	"""mutL (E. coli) homolog 1 (colon cancer, nonpolyposis type 2)"", ""mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)"""	COCA2		7903889	Standard	NM_000249		Approved	HNPCC, FCC2, HNPCC2	uc003cgl.3	P40692	OTTHUMG00000130797	ENST00000231790.2:c.882C>T	3.37:g.37059088C>T						MLH1_uc011aye.1_Silent_p.L53L|MLH1_uc011ayb.1_Silent_p.L53L|MLH1_uc010hge.2_Silent_p.L294L|MLH1_uc003cgn.3_Silent_p.L53L|MLH1_uc011ayc.1_Silent_p.L196L|MLH1_uc011ayd.1_Silent_p.L53L|MLH1_uc003cgo.2_Silent_p.L53L|MLH1_uc010hgg.1_Intron|MLH1_uc010hgh.1_Intron|MLH1_uc010hgi.1_5'UTR|MLH1_uc010hgj.1_Intron|MLH1_uc010hgk.2_Intron|MLH1_uc010hgl.1_5'UTR	p.L294L	NM_000249	NP_000240	P40692	MLH1_HUMAN			10	942	+			294		Missing (in HNPCC2).			B4DI13|B4DQ11|E9PCU2	Silent	SNP	ENST00000231790.2	37	c.882C>T	CCDS2663.1	.	.	.	.	.	.	.	.	.	.	C	11.79	1.742536	0.30865	.	.	ENSG00000076242	ENST00000456676	.	.	.	5.35	2.27	0.28462	.	.	.	.	.	T	0.47097	0.1427	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.31503	-0.9941	4	.	.	.	-14.7284	4.218	0.10544	0.3663:0.4398:0.1112:0.0826	.	.	.	.	L	286	.	.	S	+	2	0	MLH1	37034092	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	0.752000	0.26362	0.604000	0.29930	0.591000	0.81541	TCA		0.418	MLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253337.2	NM_000249		29	112	0	0	0	0.008361	0	29	112				
GOLGA4	2803	broad.mit.edu	37	3	37396654	37396655	+	Nonsense_Mutation	DNP	GG	GG	TT			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr3:37396654_37396655GG>TT	ENST00000361924.2	+	22	7013_7014	c.6639_6640GG>TT	c.(6637-6642)ttGGaa>ttTTaa	p.2213_2214LE>F*	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Nonsense_Mutation_p.2228_2229LE>F*	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	2213	GRIP. {ECO:0000255|PROSITE- ProRule:PRU00250}.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)	p.L2213_E2214>F*(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AGAAAATTTTGGAAAGAGAAGA	0.386																																							uc003cgv.2		NA																	2	Complex - compound substitution(2)		lung(2)	ovary(2)|breast(1)|central_nervous_system(1)	4						c.(6637-6642)TTGGAA>TTTTAA		golgi autoantigen, golgin subfamily a, 4																																				SO:0001587	stop_gained	2803				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	g.chr3:37396654_37396655GG>TT	U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	Exception_encountered	3.37:g.37396654_37396655delinsTT	ENSP00000354486:p.L2213_E2214delinsF*					GOLGA4_uc003cgw.2_Nonsense_Mutation_p.2228_2229LE>F*|GOLGA4_uc010hgs.2_Intron|GOLGA4_uc003cgx.2_Nonsense_Mutation_p.2094_2095LE>F*	p.2213_2214LE>F*	NM_002078	NP_002069	Q13439	GOGA4_HUMAN			22	6943_6944	+			2213_2214			GRIP.		F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Nonsense_Mutation	DNP	ENST00000361924.2	37	c.6639_6640GG>TT	CCDS2666.1																																																																																				0.386	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078		20	106	0	0	0	0.004672	0	20	106				
EXOG	9941	broad.mit.edu	37	3	38548401	38548401	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr3:38548401C>T	ENST00000287675.5	+	5	683	c.587C>T	c.(586-588)tCt>tTt	p.S196F	EXOG_ENST00000422077.2_Missense_Mutation_p.S146F|EXOG_ENST00000358249.2_Missense_Mutation_p.S56F|Y_RNA_ENST00000384781.1_RNA	NM_005107.3	NP_005098.2	Q9Y2C4	EXOG_HUMAN	endo/exonuclease (5'-3'), endonuclease G-like	196					DNA catabolic process, endonucleolytic (GO:0000737)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.S196F(2)		central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	17						TGGGTGGTATCTGGGCCTTTG	0.353																																							uc003cih.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(586-588)TCT>TTT		endo/exonuclease (5'-3'), endonuclease G-like							134.0	130.0	131.0					3																	38548401		2203	4300	6503	SO:0001583	missense	9941					mitochondrial inner membrane	endonuclease activity|metal ion binding|nucleic acid binding	g.chr3:38548401C>T	AB020523	CCDS2680.1, CCDS46795.1	3p21.3	2010-05-07	2009-01-08	2009-01-08	ENSG00000157036	ENSG00000157036	3.1.30.-		3347	protein-coding gene	gene with protein product		604051	"""endonuclease G-like 1"", ""endonuclease G-like 2"""	ENDOGL1, ENDOGL2		10231028, 18187503	Standard	NM_005107		Approved	ENGL-a, ENGL, ENGL-b	uc003cih.2	Q9Y2C4	OTTHUMG00000131295	ENST00000287675.5:c.587C>T	3.37:g.38548401C>T	ENSP00000287675:p.Ser196Phe					EXOG_uc010hhg.2_RNA|EXOG_uc011ayq.1_Missense_Mutation_p.S146F|EXOG_uc003cij.2_Missense_Mutation_p.S56F|EXOG_uc010hhd.2_Missense_Mutation_p.S56F|EXOG_uc010hhe.2_Missense_Mutation_p.S56F|EXOG_uc003cik.2_Missense_Mutation_p.S56F|EXOG_uc010hhf.2_Missense_Mutation_p.S56F|EXOG_uc003cii.2_Missense_Mutation_p.S56F	p.S196F	NM_005107	NP_005098	Q9Y2C4	EXOG_HUMAN			5	683	+			196					A8K242|B4DVG2|Q3SXM9|Q9Y2C8	Missense_Mutation	SNP	ENST00000287675.5	37	c.587C>T	CCDS2680.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.043799	0.75732	.	.	ENSG00000157036	ENST00000287675;ENST00000358249;ENST00000422077	T;T;T	0.33216	1.42;1.42;1.42	4.82	4.82	0.62117	DNA/RNA non-specific endonuclease (2);Extracellular Endonuclease, subunit A (2);	0.075131	0.56097	D	0.000023	T	0.63283	0.2498	M	0.89968	3.075	0.48452	D	0.99965	D;D	0.89917	0.999;1.0	D;D	0.79108	0.986;0.992	T	0.71669	-0.4523	10	0.87932	D	0	-18.3066	16.6247	0.84967	0.0:1.0:0.0:0.0	.	146;196	Q9Y2C4-4;Q9Y2C4	.;EXOG_HUMAN	F	196;56;146	ENSP00000287675:S196F;ENSP00000350987:S56F;ENSP00000404305:S146F	ENSP00000287675:S196F	S	+	2	0	EXOG	38523405	1.000000	0.71417	0.944000	0.38274	0.965000	0.64279	5.429000	0.66495	2.667000	0.90743	0.655000	0.94253	TCT		0.353	EXOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254063.2	NM_005107		17	77	0	0	0	0.001882	0	17	77				
KIF15	56992	broad.mit.edu	37	3	44894219	44894219	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr3:44894219G>A	ENST00000326047.4	+	35	4308	c.4159G>A	c.(4159-4161)Gaa>Aaa	p.E1387K	KIF15_ENST00000425755.1_Missense_Mutation_p.E1022K	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	1387					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|plus-end kinesin complex (GO:0005873)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.E1387K(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		GAAAAGAAGTGAATCTTGAGG	0.353																																							uc003cnx.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(4159-4161)GAA>AAA		kinesin family member 15							114.0	113.0	113.0					3																	44894219		1819	4079	5898	SO:0001583	missense	56992				blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity	g.chr3:44894219G>A	AB035898	CCDS33744.1	3p21.31	2008-03-03	2005-03-15	2005-03-17	ENSG00000163808	ENSG00000163808		"""Kinesins"""	17273	protein-coding gene	gene with protein product			"""kinesin-like 7"""	KNSL7		10878014	Standard	NM_020242		Approved	HKLP2, NY-BR-62	uc003cnx.4	Q9NS87	OTTHUMG00000156307	ENST00000326047.4:c.4159G>A	3.37:g.44894219G>A	ENSP00000324020:p.Glu1387Lys					KIF15_uc010hiq.2_Missense_Mutation_p.E1290K|KIF15_uc010hir.2_Missense_Mutation_p.E435K	p.E1387K	NM_020242	NP_064627	Q9NS87	KIF15_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)	35	4308	+			1387			Potential.		Q17RV9|Q69YL6|Q96JX7|Q9H280	Missense_Mutation	SNP	ENST00000326047.4	37	c.4159G>A	CCDS33744.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.051391	0.55218	.	.	ENSG00000163808	ENST00000326047;ENST00000425755	T;T	0.69175	-0.38;1.79	4.96	4.96	0.65561	.	0.667423	0.12376	N	0.474369	T	0.52549	0.1741	N	0.22421	0.69	0.18873	N	0.999983	P	0.37781	0.608	B	0.32980	0.156	T	0.52230	-0.8603	10	0.66056	D	0.02	.	12.9936	0.58634	0.0814:0.0:0.9186:0.0	.	1387	Q9NS87	KIF15_HUMAN	K	1387;1022	ENSP00000324020:E1387K;ENSP00000389982:E1022K	ENSP00000324020:E1387K	E	+	1	0	KIF15	44869223	0.998000	0.40836	0.073000	0.20177	0.076000	0.17211	2.995000	0.49441	2.427000	0.82271	0.563000	0.77884	GAA		0.353	KIF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343831.2			7	78	0	0	0	0.001984	0	7	78				
TEX264	51368	broad.mit.edu	37	3	51718530	51718530	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr3:51718530C>T	ENST00000415259.1	+	3	1441	c.360C>T	c.(358-360)ttC>ttT	p.F120F	TEX264_ENST00000341333.5_Silent_p.F120F|TEX264_ENST00000463857.1_3'UTR|TEX264_ENST00000457573.1_Silent_p.F120F|TEX264_ENST00000416589.1_Silent_p.F120F|TEX264_ENST00000395057.1_Silent_p.F120F			Q9Y6I9	TX264_HUMAN	testis expressed 264	120						extracellular vesicular exosome (GO:0070062)		p.F120F(2)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759)		AATTTGGCTTCAAGGTGTTCT	0.592																																							uc010hls.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(358-360)TTC>TTT		testis expressed 264 precursor							71.0	59.0	63.0					3																	51718530		2203	4300	6503	SO:0001819	synonymous_variant	51368					extracellular region		g.chr3:51718530C>T	AF072733	CCDS2833.1, CCDS74945.1	3p21	2007-03-13	2007-03-13		ENSG00000164081	ENSG00000164081			30247	protein-coding gene	gene with protein product			"""testis expressed gene 264"", ""testis expressed sequence 264"""			12975309	Standard	NM_001243725		Approved	ZSIG11, FLJ13935	uc003dbm.4	Q9Y6I9	OTTHUMG00000156901	ENST00000415259.1:c.360C>T	3.37:g.51718530C>T						TEX264_uc003dbk.3_Silent_p.F120F|TEX264_uc010hlt.2_5'UTR|TEX264_uc003dbl.3_Silent_p.F120F|TEX264_uc003dbm.3_Silent_p.F159F	p.F120F	NM_001129884	NP_001123356	Q9Y6I9	TX264_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759)	4	529	+			120					B3KN87|Q9UKD7	Silent	SNP	ENST00000415259.1	37	c.360C>T	CCDS2833.1																																																																																				0.592	TEX264-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346530.1	NM_015926		10	93	0	0	0	0.008291	0	10	93				
GPR27	2850	broad.mit.edu	37	3	71804103	71804103	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr3:71804103C>T	ENST00000304411.2	+	1	903	c.903C>T	c.(901-903)gtC>gtT	p.V301V	EIF4E3_ENST00000295612.3_5'Flank|EIF4E3_ENST00000421769.2_5'Flank|EIF4E3_ENST00000448225.1_5'Flank	NM_018971.1	NP_061844.1	Q9NS67	GPR27_HUMAN	G protein-coupled receptor 27	301					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.V301V(1)		kidney(1)|lung(2)|ovary(1)|prostate(1)	5		Prostate(10;0.00899)		BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156)		GGCCCTACGTCGTGGCCAGCT	0.672																																							uc011bge.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(901-903)GTC>GTT		G protein-coupled receptor 27							28.0	37.0	34.0					3																	71804103		2201	4300	6501	SO:0001819	synonymous_variant	2850					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:71804103C>T	AB040799	CCDS2915.1	3p21-p14	2012-08-21			ENSG00000170837	ENSG00000170837		"""GPCR / Class A : Orphans"""	4482	protein-coding gene	gene with protein product		605187				10833454	Standard	NM_018971		Approved	SREB1	uc011bge.2	Q9NS67	OTTHUMG00000158810	ENST00000304411.2:c.903C>T	3.37:g.71804103C>T						EIF4E3_uc003dox.2_5'Flank|EIF4E3_uc011bgd.1_5'Flank|EIF4E3_uc010hoc.2_5'Flank	p.V301V	NM_018971	NP_061844	Q9NS67	GPR27_HUMAN		BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156)	1	903	+		Prostate(10;0.00899)	301			Helical; Name=6; (Potential).			Silent	SNP	ENST00000304411.2	37	c.903C>T	CCDS2915.1																																																																																				0.672	GPR27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352303.1	NM_018971		9	47	0	0	0	0.000978	0	9	47				
IMPG2	50939	broad.mit.edu	37	3	100949976	100949976	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr3:100949976C>T	ENST00000193391.7	-	16	3434	c.3247G>A	c.(3247-3249)Gag>Aag	p.E1083K		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	1083	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.|Hyaluronan-binding motif involved in chondroitin sulfate C-binding. {ECO:0000250}.				visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)	p.E1083K(2)		NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	CACCAGTTCTCACCCACCCGG	0.507																																							uc003duq.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.(3247-3249)GAG>AAG		interphotoreceptor matrix proteoglycan 2							196.0	167.0	177.0					3																	100949976		2203	4300	6503	SO:0001583	missense	50939				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity	g.chr3:100949976C>T	AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.3247G>A	3.37:g.100949976C>T	ENSP00000193391:p.Glu1083Lys					IMPG2_uc011bhe.1_Missense_Mutation_p.E946K|IMPG2_uc010hpj.1_Intron	p.E1083K	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN			16	3450	-			1083			Extracellular (Potential).|EGF-like 2.|Hyaluronan-binding motif involved in chondroitin sulfate C-binding (By similarity).		A8MWT5|Q9UKD4|Q9UKK5	Missense_Mutation	SNP	ENST00000193391.7	37	c.3247G>A	CCDS2940.1	.	.	.	.	.	.	.	.	.	.	C	18.92	3.724715	0.68959	.	.	ENSG00000081148	ENST00000193391	T	0.26067	1.76	5.91	4.06	0.47325	Epidermal growth factor-like, type 3 (1);	0.430497	0.23362	N	0.049011	T	0.26412	0.0645	L	0.54323	1.7	0.42318	D	0.992244	B;B	0.30937	0.301;0.301	B;B	0.30646	0.118;0.118	T	0.03394	-1.1041	10	0.48119	T	0.1	-2.9048	12.9447	0.58365	0.1326:0.7468:0.1206:0.0	.	1083;1083	F1T0J3;Q9BZV3	.;IMPG2_HUMAN	K	1083	ENSP00000193391:E1083K	ENSP00000193391:E1083K	E	-	1	0	IMPG2	102432666	0.998000	0.40836	1.000000	0.80357	0.880000	0.50808	3.726000	0.54977	0.768000	0.33290	0.650000	0.86243	GAG		0.507	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3			45	227	0	0	0	0.002852	0	45	227				
DNAJC13	23317	broad.mit.edu	37	3	132196902	132196902	+	Missense_Mutation	SNP	C	C	A	rs370901273		TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr3:132196902C>A	ENST00000260818.6	+	24	2875	c.2627C>A	c.(2626-2628)gCc>gAc	p.A876D		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	876					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)		p.A259D(1)|p.A876D(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TGTTTACAAGCCCTTGCTATT	0.333																																							uc003eor.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)	2						c.(2626-2628)GCC>GAC		DnaJ (Hsp40) homolog, subfamily C, member 13							84.0	87.0	86.0					3																	132196902		2203	4300	6503	SO:0001583	missense	23317						heat shock protein binding	g.chr3:132196902C>A	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.2627C>A	3.37:g.132196902C>A	ENSP00000260818:p.Ala876Asp						p.A876D	NM_015268	NP_056083	O75165	DJC13_HUMAN			24	2692	+			876					Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	ENST00000260818.6	37	c.2627C>A	CCDS33857.1	.	.	.	.	.	.	.	.	.	.	C	17.66	3.444668	0.63178	.	.	ENSG00000138246	ENST00000260818	T	0.19938	2.11	5.41	5.41	0.78517	Armadillo-type fold (1);	0.060990	0.64402	D	0.000004	T	0.54046	0.1834	M	0.85462	2.755	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.59989	-0.7350	10	0.87932	D	0	.	19.5569	0.95354	0.0:1.0:0.0:0.0	.	876	O75165	DJC13_HUMAN	D	876	ENSP00000260818:A876D	ENSP00000260818:A876D	A	+	2	0	DNAJC13	133679592	1.000000	0.71417	1.000000	0.80357	0.013000	0.08279	7.320000	0.79064	2.686000	0.91538	0.650000	0.86243	GCC		0.333	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268		10	112	1	0	0.000673444	0.008291	0.00070112	10	112				
TMEM108	66000	broad.mit.edu	37	3	133099400	133099400	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr3:133099400G>A	ENST00000321871.6	+	4	1055	c.845G>A	c.(844-846)aGa>aAa	p.R282K	TMEM108_ENST00000515826.1_Missense_Mutation_p.R282K|TMEM108_ENST00000508711.1_Intron|TMEM108_ENST00000393130.3_Missense_Mutation_p.R282K	NM_001136469.1|NM_023943.2	NP_001129941.1|NP_076432.1	Q6UXF1	TM108_HUMAN	transmembrane protein 108	282						integral component of membrane (GO:0016021)		p.R282K(2)		endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GGCCTTCGCAGAGCAGCCCAG	0.647																																							uc003eph.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)	4						c.(844-846)AGA>AAA		transmembrane protein 108 precursor							29.0	29.0	29.0					3																	133099400		2203	4299	6502	SO:0001583	missense	66000					integral to membrane		g.chr3:133099400G>A	AL136578	CCDS33858.1, CCDS75012.1	3q22.1	2014-04-07			ENSG00000144868	ENSG00000144868			28451	protein-coding gene	gene with protein product	"""cancer/testis antigen 124"""					11214970	Standard	XM_005247726		Approved	MGC3040, CT124	uc003epi.3	Q6UXF1	OTTHUMG00000159685	ENST00000321871.6:c.845G>A	3.37:g.133099400G>A	ENSP00000324651:p.Arg282Lys					TMEM108_uc003epi.2_Missense_Mutation_p.R282K|TMEM108_uc003epj.1_Missense_Mutation_p.R282K|TMEM108_uc003epk.2_Intron|TMEM108_uc003epm.2_Missense_Mutation_p.R233K	p.R282K	NM_023943	NP_076432	Q6UXF1	TM108_HUMAN			4	1119	+			282			Extracellular (Potential).		D3DNC9|Q9BQH1|Q9BW81|Q9C0H3	Missense_Mutation	SNP	ENST00000321871.6	37	c.845G>A	CCDS33858.1	.	.	.	.	.	.	.	.	.	.	G	8.125	0.781877	0.16189	.	.	ENSG00000144868	ENST00000321871;ENST00000393130;ENST00000515826	T;T;T	0.46451	0.91;0.91;0.87	4.24	-0.045	0.13853	.	0.541639	0.17170	N	0.184320	T	0.31979	0.0814	L	0.56769	1.78	0.09310	N	1	B;B	0.17268	0.021;0.012	B;B	0.16289	0.015;0.009	T	0.22765	-1.0207	10	0.21014	T	0.42	-0.635	6.574	0.22555	0.1479:0.4932:0.3589:0.0	.	282;282	E9PB58;Q6UXF1	.;TM108_HUMAN	K	282	ENSP00000324651:R282K;ENSP00000376838:R282K;ENSP00000423338:R282K	ENSP00000324651:R282K	R	+	2	0	TMEM108	134582090	0.550000	0.26489	0.234000	0.24042	0.692000	0.40212	0.533000	0.23082	0.012000	0.14892	-0.305000	0.09177	AGA		0.647	TMEM108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356907.2	NM_023943		13	62	0	0	0	0.00499	0	13	62				
CPA3	1359	broad.mit.edu	37	3	148596502	148596502	+	Silent	SNP	T	T	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr3:148596502T>C	ENST00000296046.3	+	5	493	c.441T>C	c.(439-441)tcT>tcC	p.S147S	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	147					angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.S147S(2)		NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			AAATTGGATCTACTGTTGAAG	0.299																																							uc003ewm.2		NA																	2	Substitution - coding silent(2)		lung(2)	breast(1)|skin(1)	2						c.(439-441)TCT>TCC		carboxypeptidase A3 precursor							68.0	77.0	74.0					3																	148596502		2202	4295	6497	SO:0001819	synonymous_variant	1359				proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding	g.chr3:148596502T>C		CCDS3138.1	3q24	2012-02-10			ENSG00000163751	ENSG00000163751	3.4.17.1		2298	protein-coding gene	gene with protein product	"""mast cell carboxypeptidase A"", ""tissue carboxypeptidase A"""	114851					Standard	NM_001870		Approved		uc003ewm.3	P15088	OTTHUMG00000159526	ENST00000296046.3:c.441T>C	3.37:g.148596502T>C							p.S147S	NM_001870	NP_001861	P15088	CBPA3_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)		5	493	+			147					Q96E94	Silent	SNP	ENST00000296046.3	37	c.441T>C	CCDS3138.1																																																																																				0.299	CPA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355974.1	NM_001870		21	98	0	0	0	0.002299	0	21	98				
TSC22D2	9819	broad.mit.edu	37	3	150128747	150128747	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr3:150128747A>T	ENST00000361875.3	+	1	2626	c.1610A>T	c.(1609-1611)cAg>cTg	p.Q537L	TSC22D2_ENST00000361136.2_Missense_Mutation_p.Q537L	NM_014779.2	NP_055594.1	O75157	T22D2_HUMAN	TSC22 domain family, member 2	537					response to osmotic stress (GO:0006970)		sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q537L(2)		cervix(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CCTCTGGCCCAGTCGCAACAG	0.602																																							uc003exv.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1609-1611)CAG>CTG		TSC22 domain family, member 2							63.0	62.0	62.0					3																	150128747		2203	4300	6503	SO:0001583	missense	9819						sequence-specific DNA binding transcription factor activity	g.chr3:150128747A>T	AB014569	CCDS3149.1	3q25.1	2005-03-01			ENSG00000196428	ENSG00000196428			29095	protein-coding gene	gene with protein product						9734811	Standard	NM_014779		Approved	KIAA0669, TILZ4a, TILZ4b, TILZ4c	uc003exv.3	O75157	OTTHUMG00000159744	ENST00000361875.3:c.1610A>T	3.37:g.150128747A>T	ENSP00000354543:p.Gln537Leu					TSC22D2_uc003exw.2_RNA|TSC22D2_uc003exx.2_Missense_Mutation_p.Q537L	p.Q537L	NM_014779	NP_055594	O75157	T22D2_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		1	1960	+			537					D3DNI5|Q6PI50|Q9H2Z6|Q9H2Z7|Q9H2Z8	Missense_Mutation	SNP	ENST00000361875.3	37	c.1610A>T	CCDS3149.1	.	.	.	.	.	.	.	.	.	.	A	19.33	3.806125	0.70682	.	.	ENSG00000196428	ENST00000543241;ENST00000361875;ENST00000361136	T;T	0.34472	1.43;1.36	4.56	3.36	0.38483	.	0.000000	0.49916	D	0.000133	T	0.42720	0.1215	L	0.32530	0.975	0.38494	D	0.948057	D;D	0.65815	0.995;0.991	D;P	0.63877	0.919;0.831	T	0.26018	-1.0115	10	0.34782	T	0.22	.	10.7717	0.46327	0.8401:0.1599:0.0:0.0	.	537;537	O75157-2;O75157	.;T22D2_HUMAN	L	10;537;537	ENSP00000354543:Q537L;ENSP00000354893:Q537L	ENSP00000354893:Q537L	Q	+	2	0	TSC22D2	151611437	1.000000	0.71417	0.990000	0.47175	0.841000	0.47740	3.530000	0.53539	0.580000	0.29522	0.460000	0.39030	CAG		0.602	TSC22D2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357123.2	NM_014779		14	77	0	0	0	0.00499	0	14	77				
BCHE	590	broad.mit.edu	37	3	165548362	165548362	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr3:165548362G>A	ENST00000264381.3	-	2	626	c.460C>T	c.(460-462)Cat>Tat	p.H154Y	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	154					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)	p.H154Y(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	TCATAAACATGTAAAGATGAT	0.383																																							uc003fem.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|pancreas(1)	4						c.(460-462)CAT>TAT		butyrylcholinesterase precursor	Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)						55.0	56.0	56.0					3																	165548362		2203	4300	6503	SO:0001583	missense	590				choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	g.chr3:165548362G>A	M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"""cholinesterase 1"", ""cholinesterase (serum) 2"""	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.460C>T	3.37:g.165548362G>A	ENSP00000264381:p.His154Tyr					BCHE_uc003fen.3_Intron	p.H154Y	NM_000055	NP_000046	P06276	CHLE_HUMAN			2	620	-			154					A8K7P8	Missense_Mutation	SNP	ENST00000264381.3	37	c.460C>T	CCDS3198.1	.	.	.	.	.	.	.	.	.	.	G	4.092	0.015162	0.07959	.	.	ENSG00000114200	ENST00000264381	D	0.95238	-3.65	5.83	2.84	0.33178	Carboxylesterase, type B (1);	1.227220	0.05354	N	0.532503	D	0.88332	0.6408	N	0.14661	0.345	0.09310	N	0.999997	B	0.02656	0.0	B	0.04013	0.001	T	0.77354	-0.2619	10	0.87932	D	0	.	4.6109	0.12402	0.0719:0.126:0.4775:0.3246	.	154	P06276	CHLE_HUMAN	Y	154	ENSP00000264381:H154Y	ENSP00000264381:H154Y	H	-	1	0	BCHE	167031056	0.151000	0.22747	0.000000	0.03702	0.241000	0.25554	3.160000	0.50739	0.248000	0.21435	0.655000	0.94253	CAT		0.383	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1			18	79	0	0	0	0.008871	0	18	79				
ZBBX	79740	broad.mit.edu	37	3	166958699	166958699	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr3:166958699C>T	ENST00000392766.2	-	21	2625	c.2285G>A	c.(2284-2286)gGa>gAa	p.G762E	ZBBX_ENST00000392767.2_Missense_Mutation_p.G762E|ZBBX_ENST00000455345.2_Missense_Mutation_p.G801E|ZBBX_ENST00000392764.1_Missense_Mutation_p.G733E|ZBBX_ENST00000307529.5_Missense_Mutation_p.G801E	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	762						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.G801E(2)|p.G762E(2)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						GGTATCTCTTCCAGAACAGCT	0.378																																							uc003fep.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(2)	2						c.(2284-2286)GGA>GAA		zinc finger, B-box domain containing							124.0	113.0	116.0					3																	166958699		1895	4127	6022	SO:0001583	missense	79740					intracellular	zinc ion binding	g.chr3:166958699C>T	AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.2285G>A	3.37:g.166958699C>T	ENSP00000376519:p.Gly762Glu					ZBBX_uc011bpc.1_Missense_Mutation_p.G801E|ZBBX_uc003feq.2_Missense_Mutation_p.G733E	p.G762E	NM_024687	NP_078963	A8MT70	ZBBX_HUMAN			21	2608	-			762					A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Missense_Mutation	SNP	ENST00000392766.2	37	c.2285G>A	CCDS3199.2	.	.	.	.	.	.	.	.	.	.	C	8.661	0.900449	0.17686	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66	5.21	2.21	0.28008	.	0.931112	0.08932	N	0.872884	T	0.27832	0.0685	N	0.16478	0.41	0.27734	N	0.944717	B;B	0.13594	0.008;0.005	B;B	0.14578	0.011;0.005	T	0.26395	-1.0104	10	0.20519	T	0.43	-2.1909	4.7752	0.13175	0.0:0.4476:0.0:0.5524	.	801;762	A8MT70-2;A8MT70	.;ZBBX_HUMAN	E	762;762;801;801;733	ENSP00000376519:G762E;ENSP00000376520:G762E;ENSP00000390232:G801E;ENSP00000305065:G801E;ENSP00000376517:G733E	ENSP00000305065:G801E	G	-	2	0	ZBBX	168441393	0.997000	0.39634	1.000000	0.80357	0.250000	0.25880	0.707000	0.25704	0.755000	0.32990	-0.259000	0.10710	GGA		0.378	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687		18	79	0	0	0	0.00499	0	18	79				
FXR1	8087	broad.mit.edu	37	3	180671582	180671582	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr3:180671582C>T	ENST00000357559.4	+	9	1218	c.834C>T	c.(832-834)ttC>ttT	p.F278F	FXR1_ENST00000468861.1_Silent_p.F193F|FXR1_ENST00000480918.1_Silent_p.F265F|FXR1_ENST00000445140.2_Silent_p.F278F|FXR1_ENST00000305586.7_Silent_p.F193F|FXR1_ENST00000491062.1_Silent_p.F229F	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	278					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of translation (GO:0017148)	costamere (GO:0043034)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysome (GO:0005844)	G-quadruplex RNA binding (GO:0002151)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.F278F(2)		breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			CTAGAGGTTTCTTGGAATTTG	0.338																																							uc003fkq.2		NA																	2	Substitution - coding silent(2)		lung(2)	breast(1)	1						c.(832-834)TTC>TTT		fragile X mental retardation-related protein 1							168.0	169.0	169.0					3																	180671582		2203	4300	6503	SO:0001819	synonymous_variant	8087				apoptosis|cell differentiation|muscle organ development	nucleolus|polysome		g.chr3:180671582C>T	M67468	CCDS3238.1, CCDS33894.1, CCDS46965.1	3q28	2014-01-28			ENSG00000114416	ENSG00000114416			4023	protein-coding gene	gene with protein product		600819				7781595, 9642279	Standard	NM_005087		Approved		uc003fkq.3	P51114	OTTHUMG00000158138	ENST00000357559.4:c.834C>T	3.37:g.180671582C>T						FXR1_uc003fkp.2_Silent_p.F193F|FXR1_uc003fkr.2_Silent_p.F278F|FXR1_uc011bqj.1_Silent_p.F192F|FXR1_uc003fks.2_Silent_p.F192F|FXR1_uc011bqk.1_Silent_p.F229F|FXR1_uc011bql.1_Silent_p.F265F	p.F278F	NM_005087	NP_005078	P51114	FXR1_HUMAN	Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)		9	856	+	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		278					A8K9B8|Q7Z450|Q8N6R8	Silent	SNP	ENST00000357559.4	37	c.834C>T	CCDS3238.1																																																																																				0.338	FXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350265.5			47	152	0	0	0	0.00361	0	47	152				
ALG3	10195	broad.mit.edu	37	3	183960694	183960694	+	Missense_Mutation	SNP	C	C	T	rs546890576		TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr3:183960694C>T	ENST00000397676.3	-	8	1091	c.1061G>A	c.(1060-1062)cGc>cAc	p.R354H	ALG3_ENST00000445626.2_Missense_Mutation_p.R306H|ALG3_ENST00000455059.1_Missense_Mutation_p.R314H|EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000418734.2_Missense_Mutation_p.R298H|ALG3_ENST00000463495.1_5'Flank|MIR1224_ENST00000408193.1_RNA	NM_005787.5	NP_005778.1	Q92685	ALG3_HUMAN	ALG3, alpha-1,3- mannosyltransferase	354					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-1,3-mannosyltransferase activity (GO:0000033)|dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase activity (GO:0052925)	p.R306H(1)|p.R354H(1)		kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GTGGAGGGAGCGGCTGAAGCA	0.572																																							uc003fne.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1060-1062)CGC>CAC		alpha-1,3-mannosyltransferase ALG3 isoform a							67.0	75.0	72.0					3																	183960694		2058	4197	6255	SO:0001583	missense	10195				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity	g.chr3:183960694C>T	BC002839	CCDS46967.1, CCDS46968.1	3q27.3	2013-02-26	2013-02-26		ENSG00000214160	ENSG00000214160	2.4.1.258	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	23056	protein-coding gene	gene with protein product	"""carbohydrate deficient glycoprotein syndrome type IV"", ""dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase"", ""dol-P-Man dependent alpha-1,3- mannosyltransferase"""	608750	"""asparagine-linked glycosylation 3 homolog (yeast, alpha-1,3-mannosyltransferase)"", ""asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae)"""			1058125	Standard	NM_005787		Approved	NOT56L, Not56, CDGS4, D16Ertd36e	uc003fne.2	Q92685	OTTHUMG00000156823	ENST00000397676.3:c.1061G>A	3.37:g.183960694C>T	ENSP00000380793:p.Arg354His					ALG3_uc011brc.1_Missense_Mutation_p.R319H|ALG3_uc011brd.1_Missense_Mutation_p.R298H|ALG3_uc011bre.1_Missense_Mutation_p.R306H	p.R354H	NM_005787	NP_005778	Q92685	ALG3_HUMAN	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		8	1092	-	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		354					A8JZZ6|Q9BT71	Missense_Mutation	SNP	ENST00000397676.3	37	c.1061G>A	CCDS46968.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.946083	0.92593	.	.	ENSG00000214160	ENST00000418734;ENST00000397676;ENST00000445626;ENST00000455059	D;D;D;D	0.91843	-2.92;-2.92;-2.92;-2.92	5.28	5.28	0.74379	.	0.000000	0.85682	U	0.000000	D	0.97393	0.9147	H	0.95645	3.7	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.98158	1.0445	10	0.72032	D	0.01	-15.8522	18.0708	0.89405	0.0:1.0:0.0:0.0	.	306;298;314;354	A8JZZ6;B4DS50;C9J7S5;Q92685	.;.;.;ALG3_HUMAN	H	298;354;306;314	ENSP00000402976:R298H;ENSP00000380793:R354H;ENSP00000402744:R306H;ENSP00000397613:R314H	ENSP00000380793:R354H	R	-	2	0	ALG3	185443388	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.651000	0.83577	2.747000	0.94245	0.462000	0.41574	CGC		0.572	ALG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346033.1	NM_005787		6	39	0	0	0	0.00308	0	6	39				
MAP3K13	9175	broad.mit.edu	37	3	185169074	185169074	+	Splice_Site	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr3:185169074G>A	ENST00000265026.3	+	7	1503		c.e7-1		MAP3K13_ENST00000535426.1_Splice_Site|MAP3K13_ENST00000443863.1_Splice_Site|MAP3K13_ENST00000446828.1_Splice_Site|MAP3K13_ENST00000424227.1_Splice_Site	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13									p.?(4)		NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			TTCACTTTTAGGCAGAGTAAA	0.383																																							uc010hyf.2		NA																	4	Unknown(4)		lung(4)	ovary(2)|skin(1)	3						c.e8-1		mitogen-activated protein kinase kinase kinase							108.0	95.0	99.0					3																	185169074		2203	4300	6503	SO:0001630	splice_region_variant	9175				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr3:185169074G>A	BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6852	protein-coding gene	gene with protein product	"""leucine zipper-bearing kinase"""	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.1170-1G>A	3.37:g.185169074G>A						MAP3K13_uc011brt.1_Splice_Site_p.W183_splice|MAP3K13_uc003fph.3_Splice_Site_p.W158_splice|MAP3K13_uc011bru.1_Splice_Site_p.W246_splice|MAP3K13_uc003fpi.2_Splice_Site_p.W390_splice|MAP3K13_uc010hyg.2_Splice_Site_p.W80_splice	p.W390_splice	NM_004721	NP_004712	O43283	M3K13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)		8	1436	+	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)								Splice_Site	SNP	ENST00000265026.3	37	c.1170_splice	CCDS3270.1	.	.	.	.	.	.	.	.	.	.	G	18.00	3.526010	0.64860	.	.	ENSG00000073803	ENST00000446828;ENST00000424227;ENST00000443863;ENST00000535426;ENST00000265026;ENST00000420577	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3242	0.98691	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MAP3K13	186651768	1.000000	0.71417	0.998000	0.56505	0.493000	0.33554	9.869000	0.99810	2.882000	0.98803	0.655000	0.94253	.		0.383	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345268.1	NM_004721	Intron	30	81	0	0	0	0.007291	0	30	81				
DNAJB11	51726	broad.mit.edu	37	3	186301672	186301672	+	Missense_Mutation	SNP	G	G	C	rs537874103		TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr3:186301672G>C	ENST00000439351.1	+	9	1688	c.759G>C	c.(757-759)agG>agC	p.R253S	DNAJB11_ENST00000265028.3_Missense_Mutation_p.R253S			Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	253					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|mRNA modification (GO:0016556)|protein folding (GO:0006457)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)|nucleus (GO:0005634)		p.R253S(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		TATTTGAAAGGAGAGGAGATG	0.338																																							uc003fqi.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(757-759)AGG>AGC		DnaJ (Hsp40) homolog, subfamily B, member 11							161.0	151.0	154.0					3																	186301672		2203	4300	6503	SO:0001583	missense	51726				protein folding	endoplasmic reticulum lumen	heat shock protein binding	g.chr3:186301672G>C	AB028859	CCDS3277.1	3q27	2011-09-02			ENSG00000090520	ENSG00000090520		"""Heat shock proteins / DNAJ (HSP40)"""	14889	protein-coding gene	gene with protein product		611341				10827079, 11147971	Standard	NM_016306		Approved	EDJ, HEDJ, ERdj3	uc003fqi.3	Q9UBS4	OTTHUMG00000156614	ENST00000439351.1:c.759G>C	3.37:g.186301672G>C	ENSP00000414398:p.Arg253Ser						p.R253S	NM_016306	NP_057390	Q9UBS4	DJB11_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)	8	979	+	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		253					Q542Y5|Q542Y9|Q6IAQ8|Q96JC6	Missense_Mutation	SNP	ENST00000439351.1	37	c.759G>C	CCDS3277.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.55|18.55	3.647938|3.647938	0.67358|0.67358	.|.	.|.	ENSG00000090520|ENSG00000090520	ENST00000418776|ENST00000439351;ENST00000265028	.|T;T	.|0.51817	.|0.69;0.69	5.79|5.79	3.01|3.01	0.34805|0.34805	.|HSP40/DnaJ peptide-binding (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.80019|0.80019	0.4547|0.4547	H|H	0.99859|0.99859	4.855|4.855	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	T|T	0.82325|0.82325	-0.0513|-0.0513	5|10	.|0.87932	.|D	.|0	-16.7954|-16.7954	6.9875|6.9875	0.24737|0.24737	0.3205:0.0:0.6795:0.0|0.3205:0.0:0.6795:0.0	.|.	.|253	.|Q9UBS4	.|DJB11_HUMAN	Q|S	54|253	.|ENSP00000414398:R253S;ENSP00000265028:R253S	.|ENSP00000265028:R253S	E|R	+|+	1|3	0|2	DNAJB11|DNAJB11	187784366|187784366	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	0.837000|0.837000	0.27558|0.27558	1.447000|1.447000	0.47661|0.47661	0.655000|0.655000	0.94253|0.94253	GAG|AGG		0.338	DNAJB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344779.1			4	112	0	0	0	0.009096	0	4	112				
PIGX	54965	broad.mit.edu	37	3	196460684	196460684	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr3:196460684C>G	ENST00000314118.4	+	6	847	c.565C>G	c.(565-567)Cta>Gta	p.L189V	PIGX_ENST00000541663.1_Missense_Mutation_p.L140V	NM_017861.3	NP_060331.3	Q8TBF5	PIGX_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class X	230					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)		p.L189V(2)		endometrium(1)|large_intestine(5)|lung(4)|stomach(1)	11	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;1.08e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00322)		ACATACCTCTCTAGTATGTTC	0.378																																							uc010iaj.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(619-621)CTA>GTA		phosphatidylinositol glycan anchor biosynthesis,							217.0	183.0	195.0					3																	196460684		2203	4300	6503	SO:0001583	missense	54965				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane		g.chr3:196460684C>G	AK000529	CCDS3320.1, CCDS3320.2, CCDS54701.1	3q29	2013-02-26	2006-06-28		ENSG00000163964	ENSG00000163964		"""Phosphatidylinositol glycan anchor biosynthesis"""	26046	protein-coding gene	gene with protein product		610276	"""phosphatidylinositol glycan, class X"""			15635094	Standard	NM_017861		Approved	FLJ20522	uc010iaj.3	Q8TBF5	OTTHUMG00000155535	ENST00000314118.4:c.565C>G	3.37:g.196460684C>G	ENSP00000317301:p.Leu189Val					PIGX_uc003fwx.3_Missense_Mutation_p.L189V|PIGX_uc011btx.1_RNA	p.L207V	NM_017861	NP_060331	Q8TBF5	PIGX_HUMAN	Epithelial(36;1.07e-23)|all cancers(36;1.08e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00322)	7	900	+	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		230			Lumenal (Potential).		Q9NWZ2	Missense_Mutation	SNP	ENST00000314118.4	37	c.619C>G		.	.	.	.	.	.	.	.	.	.	C	12.06	1.823637	0.32237	.	.	ENSG00000163964	ENST00000392391;ENST00000314118;ENST00000296333;ENST00000541663	T;T;T;T	0.28895	1.59;1.59;1.59;1.59	5.94	2.18	0.27775	.	0.343615	0.25634	N	0.029322	T	0.41971	0.1182	M	0.61703	1.905	0.26321	N	0.97767	D;D	0.76494	0.998;0.999	D;D	0.68943	0.934;0.961	T	0.21245	-1.0251	10	0.21540	T	0.41	-4.9947	5.3644	0.16105	0.0:0.1579:0.1474:0.6946	.	248;230	Q8TBF5-2;Q8TBF5	.;PIGX_HUMAN	V	230;189;248;140	ENSP00000376192:L230V;ENSP00000317301:L189V;ENSP00000296333:L248V;ENSP00000443269:L140V	ENSP00000296333:L248V	L	+	1	2	PIGX	197945081	0.565000	0.26610	0.983000	0.44433	0.240000	0.25518	0.524000	0.22940	0.480000	0.27534	-0.295000	0.09555	CTA		0.378	PIGX-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017861		37	96	0	0	0	0.004289	0	37	96				
EXOC1	55763	broad.mit.edu	37	4	56737273	56737273	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr4:56737273A>G	ENST00000381295.2	+	7	1186	c.838A>G	c.(838-840)Atg>Gtg	p.M280V	EXOC1_ENST00000346134.7_Missense_Mutation_p.M280V|EXOC1_ENST00000349598.6_Missense_Mutation_p.M280V	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	280					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.M280V(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					CTAGAACCACATGGACTTGGC	0.433																																							uc003hbe.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)|lung(1)|central_nervous_system(1)	6						c.(838-840)ATG>GTG		exocyst complex component 1 isoform 1							95.0	84.0	87.0					4																	56737273		2203	4300	6503	SO:0001583	missense	55763				exocytosis|protein transport	exocyst	protein binding	g.chr4:56737273A>G	AK027047	CCDS3502.1, CCDS3503.1	4q12	2013-01-22	2005-11-01	2005-11-01	ENSG00000090989	ENSG00000090989			30380	protein-coding gene	gene with protein product		607879	"""SEC3-like 1 (S. cerevisiae)"""	SEC3L1		11042152, 11406615	Standard	XM_005265747		Approved	SEC3, FLJ10893, BM-102, Sec3p	uc003hbf.1	Q9NV70	OTTHUMG00000102165	ENST00000381295.2:c.838A>G	4.37:g.56737273A>G	ENSP00000370695:p.Met280Val					EXOC1_uc003hbf.1_Missense_Mutation_p.M280V|EXOC1_uc003hbg.1_Missense_Mutation_p.M280V	p.M280V	NM_018261	NP_060731	Q9NV70	EXOC1_HUMAN			7	996	+	Glioma(25;0.08)|all_neural(26;0.101)		280					Q504V4|Q8WUE7|Q96T15|Q9NZE4	Missense_Mutation	SNP	ENST00000381295.2	37	c.838A>G	CCDS3502.1	.	.	.	.	.	.	.	.	.	.	A	15.16	2.752358	0.49362	.	.	ENSG00000090989	ENST00000381295;ENST00000346134;ENST00000349598	.	.	.	5.97	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.42743	0.1216	N	0.20530	0.585	0.58432	D	0.999999	B;B	0.24823	0.112;0.013	B;B	0.27076	0.076;0.055	T	0.19516	-1.0303	9	0.22109	T	0.4	.	13.4213	0.60998	0.8688:0.1312:0.0:0.0	.	280;280	Q9NV70-2;Q9NV70	.;EXOC1_HUMAN	V	280	.	ENSP00000326514:M280V	M	+	1	0	EXOC1	56432030	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.932000	0.70121	1.066000	0.40716	0.477000	0.44152	ATG		0.433	EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361799.1	NM_018261		6	107	0	0	0	0.001168	0	6	107				
SULT1B1	27284	broad.mit.edu	37	4	70596267	70596267	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr4:70596267G>A	ENST00000310613.3	-	7	1027	c.730C>T	c.(730-732)Cta>Tta	p.L244L		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	244					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|cellular biogenic amine metabolic process (GO:0006576)|epithelial cell differentiation (GO:0030855)|flavonoid metabolic process (GO:0009812)|phenol-containing compound metabolic process (GO:0018958)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|thyroid hormone metabolic process (GO:0042403)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|sulfotransferase activity (GO:0008146)	p.L244L(2)		breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						GTAGTTGGTAGATGTGTATAA	0.358																																							uc003hen.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(730-732)CTA>TTA		sulfotransferase family, cytosolic, 1B, member							168.0	154.0	159.0					4																	70596267		2203	4300	6503	SO:0001819	synonymous_variant	27284				3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol		g.chr4:70596267G>A	D89479	CCDS3530.1	4q13.3	2008-02-05			ENSG00000173597	ENSG00000173597		"""Sulfotransferases, cytosolic"""	17845	protein-coding gene	gene with protein product		608436				11688987, 9443824	Standard	NM_014465		Approved	ST1B2	uc003hen.3	O43704	OTTHUMG00000129407	ENST00000310613.3:c.730C>T	4.37:g.70596267G>A							p.L244L	NM_014465	NP_055280	O43704	ST1B1_HUMAN			7	1028	-			244					O15497|Q96FI1|Q9UK34	Silent	SNP	ENST00000310613.3	37	c.730C>T	CCDS3530.1																																																																																				0.358	SULT1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251563.2	NM_014465		15	128	0	0	0	0.004007	0	15	128				
GC	2638	broad.mit.edu	37	4	72634141	72634141	+	Silent	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr4:72634141G>T	ENST00000273951.8	-	3	481	c.138C>A	c.(136-138)gtC>gtA	p.V46V	GC_ENST00000513476.1_Silent_p.V46V|GC_ENST00000504199.1_Silent_p.V65V|GC_ENST00000503472.1_5'UTR	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	46	Albumin 1. {ECO:0000255|PROSITE- ProRule:PRU00769}.				small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	actin binding (GO:0003779)|calcidiol binding (GO:1902118)|vitamin D binding (GO:0005499)|vitamin transporter activity (GO:0051183)	p.V65V(2)|p.V46V(2)		endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Alfacalcidol(DB01436)|Cholecalciferol(DB00169)	TACTGTACAGGACTAGTGACC	0.468																																							uc003hge.2		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(136-138)GTC>GTA		vitamin D-binding protein precursor	Cholecalciferol(DB00169)						55.0	53.0	54.0					4																	72634141		2203	4300	6503	SO:0001819	synonymous_variant	2638				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity	g.chr4:72634141G>T	L10641	CCDS3550.1, CCDS56332.1	4q12-q13	2008-08-29			ENSG00000145321	ENSG00000145321			4187	protein-coding gene	gene with protein product		139200				558959	Standard	NM_000583		Approved	DBP, VDBP, hDBP	uc010iif.3	P02774	OTTHUMG00000129915	ENST00000273951.8:c.138C>A	4.37:g.72634141G>T						GC_uc003hgd.2_5'UTR|GC_uc010iie.2_Silent_p.V46V|GC_uc010iif.2_Silent_p.V65V	p.V46V	NM_000583	NP_000574	P02774	VTDB_HUMAN	Lung(101;0.148)		3	291	-		all_hematologic(202;0.107)	46			Albumin 1.		B4DPP2|D6RAK8|Q16309|Q16310|Q53F31|Q6GTG1	Silent	SNP	ENST00000273951.8	37	c.138C>A	CCDS3550.1																																																																																				0.468	GC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252167.2			9	53	1	0	3.86212e-05	0.008291	4.14871e-05	9	53				
BMP2K	55589	broad.mit.edu	37	4	79793823	79793823	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr4:79793823C>T	ENST00000335016.5	+	13	1830	c.1664C>T	c.(1663-1665)cCg>cTg	p.P555L	BMP2K_ENST00000502871.1_Missense_Mutation_p.P555L	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	555	Gln/His-rich.				regulation of bone mineralization (GO:0030500)	nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatase regulator activity (GO:0019208)|protein serine/threonine kinase activity (GO:0004674)	p.P555L(4)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						CAACATCAGCCGTCTCAACAA	0.443																																							uc003hlk.2		NA																	4	Substitution - Missense(4)		lung(4)	lung(1)	1						c.(1663-1665)CCG>CTG		BMP-2 inducible kinase isoform a							147.0	136.0	139.0					4																	79793823		2203	4300	6503	SO:0001583	missense	55589					nucleus	ATP binding|protein serine/threonine kinase activity	g.chr4:79793823C>T	AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756			18041	protein-coding gene	gene with protein product							Standard	NM_017593		Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900	ENST00000335016.5:c.1664C>T	4.37:g.79793823C>T	ENSP00000334836:p.Pro555Leu					BMP2K_uc003hlj.2_Missense_Mutation_p.P555L|BMP2K_uc003hll.2_Missense_Mutation_p.P19L	p.P555L	NM_198892	NP_942595	Q9NSY1	BMP2K_HUMAN			13	1830	+			555			Gln/His-rich.		O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	Missense_Mutation	SNP	ENST00000335016.5	37	c.1664C>T	CCDS47083.1	.	.	.	.	.	.	.	.	.	.	C	7.121	0.577866	0.13686	.	.	ENSG00000138756	ENST00000502871;ENST00000335016;ENST00000264889	T;T	0.73789	1.02;-0.78	5.79	0.373	0.16178	.	6.203880	0.01465	N	0.016027	T	0.57548	0.2061	N	0.14661	0.345	0.21105	N	0.999783	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.45877	-0.9231	10	0.56958	D	0.05	-2.3589	2.9825	0.05957	0.2888:0.414:0.0718:0.2254	.	555;555	Q9NSY1;Q4W5H2	BMP2K_HUMAN;.	L	555;555;569	ENSP00000421768:P555L;ENSP00000334836:P555L	ENSP00000264889:P569L	P	+	2	0	BMP2K	80012847	0.746000	0.28272	0.145000	0.22337	0.007000	0.05969	0.355000	0.20163	-0.138000	0.11434	-1.107000	0.02091	CCG		0.443	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_017593		8	61	0	0	0	0.00308	0	8	61				
DKK2	27123	broad.mit.edu	37	4	107845160	107845160	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr4:107845160T>C	ENST00000285311.3	-	4	1436	c.731A>G	c.(730-732)gAt>gGt	p.D244G	DKK2_ENST00000510463.1_Missense_Mutation_p.D198G|DKK2_ENST00000513208.1_Missense_Mutation_p.D144G	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	244	DKK-type Cys-2.				multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)		p.D244G(2)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		GTAGGTGGCATCTTTCCATAC	0.458																																							uc003hyi.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(1)|skin(1)	5						c.(730-732)GAT>GGT		dickkopf homolog 2 precursor							153.0	141.0	145.0					4																	107845160		2203	4300	6503	SO:0001583	missense	27123				multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space		g.chr4:107845160T>C	AB033208	CCDS3675.1	4q25	2013-05-15	2013-05-15		ENSG00000155011	ENSG00000155011			2892	protein-coding gene	gene with protein product		605415	"""dickkopf (Xenopus laevis) homolog 2"", ""dickkopf 2 homolog (Xenopus laevis)"""			10570958	Standard	NM_014421		Approved		uc003hyi.3	Q9UBU2	OTTHUMG00000131216	ENST00000285311.3:c.731A>G	4.37:g.107845160T>C	ENSP00000285311:p.Asp244Gly					DKK2_uc003hyj.1_3'UTR	p.D244G	NM_014421	NP_055236	Q9UBU2	DKK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)	4	1436	-		Hepatocellular(203;0.217)	244			DKK-type Cys-2.		A0AVE9|B2R6S7|Q9UIU3	Missense_Mutation	SNP	ENST00000285311.3	37	c.731A>G	CCDS3675.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.956221	0.73902	.	.	ENSG00000155011	ENST00000285311;ENST00000513208;ENST00000510463	T;T;T	0.51071	0.72;0.79;0.75	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.63988	0.2558	L	0.56769	1.78	0.80722	D	1	D	0.63880	0.993	D	0.72338	0.977	T	0.60301	-0.7290	10	0.28530	T	0.3	-10.0465	15.842	0.78852	0.0:0.0:0.0:1.0	.	244	Q9UBU2	DKK2_HUMAN	G	244;144;198	ENSP00000285311:D244G;ENSP00000421255:D144G;ENSP00000423797:D198G	ENSP00000285311:D244G	D	-	2	0	DKK2	108064609	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.698000	0.84413	2.146000	0.66826	0.477000	0.44152	GAT		0.458	DKK2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253959.4			31	253	0	0	0	0.002096	0	31	253				
PAPSS1	9061	broad.mit.edu	37	4	108552995	108552995	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr4:108552995G>A	ENST00000265174.4	-	11	1800	c.1528C>T	c.(1528-1530)Cgg>Tgg	p.R510W		NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 1	510					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	adenylylsulfate kinase activity (GO:0004020)|ATP binding (GO:0005524)|nucleotidyltransferase activity (GO:0016779)|sulfate adenylyltransferase (ATP) activity (GO:0004781)	p.R510W(1)		NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		GCAACCATCCGTGCTCTGCAA	0.418																																							uc003hyk.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1528-1530)CGG>TGG		3'-phosphoadenosine 5'-phosphosulfate synthase							51.0	45.0	47.0					4																	108552995		2203	4300	6503	SO:0001583	missense	9061				3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity	g.chr4:108552995G>A	Y10387	CCDS3676.1	4q24	2012-07-13			ENSG00000138801	ENSG00000138801	2.7.7.4, 2.7.1.25		8603	protein-coding gene	gene with protein product		603262				9576487, 9771708	Standard	NM_005443		Approved	ATPSK1, PAPSS	uc003hyk.3	O43252	OTTHUMG00000131210	ENST00000265174.4:c.1528C>T	4.37:g.108552995G>A	ENSP00000265174:p.Arg510Trp						p.R510W	NM_005443	NP_005434	O43252	PAPS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)	11	1612	-		Hepatocellular(203;0.217)	510			Adenylyl-sulfate kinase.		O43841|O75332|Q96FB1|Q96TF4|Q9P1P9|Q9UE98	Missense_Mutation	SNP	ENST00000265174.4	37	c.1528C>T	CCDS3676.1	.	.	.	.	.	.	.	.	.	.	G	19.30	3.801726	0.70682	.	.	ENSG00000138801	ENST00000265174	T	0.50001	0.76	5.62	3.86	0.44501	Sulphate adenylyltransferase (2);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	T	0.81375	0.4809	H	0.99261	4.49	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.88118	0.2830	9	.	.	.	-19.3151	14.2849	0.66240	0.0:0.0:0.6113:0.3887	.	510	O43252	PAPS1_HUMAN	W	510	ENSP00000265174:R510W	.	R	-	1	2	PAPSS1	108772444	0.999000	0.42202	0.985000	0.45067	0.998000	0.95712	2.900000	0.48687	0.693000	0.31634	0.650000	0.86243	CGG		0.418	PAPSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253946.2			4	57	0	0	0	0.000602	0	4	57				
KLKB1	3818	broad.mit.edu	37	4	187149394	187149394	+	Silent	SNP	T	T	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr4:187149394T>A	ENST00000264690.6	+	2	232	c.45T>A	c.(43-45)gcT>gcA	p.A15A	KLKB1_ENST00000513864.1_Silent_p.A15A	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	15					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)|proteolysis (GO:0006508)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)	p.A15A(4)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		CCTTGTTTGCTACAGTTTCCT	0.353																																							uc003iyy.2		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(1)	1						c.(43-45)GCT>GCA		plasma kallikrein B1 precursor							95.0	93.0	93.0					4																	187149394		2201	4297	6498	SO:0001819	synonymous_variant	3818				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr4:187149394T>A	M13143	CCDS34120.1	4q35	2008-02-05			ENSG00000164344	ENSG00000164344		"""Kallikreins"""	6371	protein-coding gene	gene with protein product		229000		KLK3		9535413, 3521732	Standard	XM_005262987		Approved		uc003iyy.3	P03952	OTTHUMG00000150347	ENST00000264690.6:c.45T>A	4.37:g.187149394T>A						KLKB1_uc011clc.1_5'UTR|KLKB1_uc011cld.1_Intron	p.A15A	NM_000892	NP_000883	P03952	KLKB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)	2	116	+		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	15					A6NH96|B2R8H9|Q17RE8|Q17RE9|Q4W5C3	Silent	SNP	ENST00000264690.6	37	c.45T>A	CCDS34120.1																																																																																				0.353	KLKB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317732.1	NM_000892		7	30	0	0	0	0.00308	0	7	30				
SLC12A7	10723	broad.mit.edu	37	5	1089245	1089245	+	Splice_Site	SNP	T	T	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr5:1089245T>A	ENST00000264930.5	-	4	386		c.e4-2			NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7						cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)	p.?(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GCGCGGAGCCTGCGACAGAGC	0.682																																							uc003jbu.2		NA																	1	Unknown(1)		lung(1)	skin(2)|large_intestine(1)|ovary(1)	4						c.e4-1		solute carrier family 12 (potassium/chloride	Potassium Chloride(DB00761)						95.0	86.0	89.0					5																	1089245		2201	4299	6500	SO:0001630	splice_region_variant	10723				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	g.chr5:1089245T>A	AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"""Solute carriers"""	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.343-2A>T	5.37:g.1089245T>A							p.A115_splice	NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		4	409	-	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)							A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Splice_Site	SNP	ENST00000264930.5	37	c.343_splice	CCDS34129.1	.	.	.	.	.	.	.	.	.	.	T	10.20	1.284495	0.23392	.	.	ENSG00000113504	ENST00000264930;ENST00000343658	.	.	.	3.61	3.61	0.41365	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.331	0.49477	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC12A7	1142245	1.000000	0.71417	0.089000	0.20774	0.118000	0.20060	7.135000	0.77276	1.421000	0.47157	0.459000	0.35465	.		0.682	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598	Intron	23	251	0	0	0	0.001882	0	23	251				
HCN1	348980	broad.mit.edu	37	5	45267266	45267266	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr5:45267266T>A	ENST00000303230.4	-	7	1765	c.1708A>T	c.(1708-1710)Aac>Tac	p.N570Y		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	570					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.N570Y(2)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						AGGACCTCGTTGAAATTGTCC	0.433																																							uc003jok.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1708-1710)AAC>TAC		hyperpolarization activated cyclic							155.0	143.0	147.0					5																	45267266		2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45267266T>A	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1708A>T	5.37:g.45267266T>A	ENSP00000307342:p.Asn570Tyr						p.N570Y	NM_021072	NP_066550	O60741	HCN1_HUMAN			7	1733	-			570			cAMP.|Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000303230.4	37	c.1708A>T	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	T	27.2	4.812314	0.90707	.	.	ENSG00000164588	ENST00000303230	D	0.92595	-3.07	5.91	5.91	0.95273	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.64402	D	0.000001	D	0.91744	0.7389	M	0.66297	2.02	0.80722	D	1	P	0.50066	0.931	B	0.43251	0.413	D	0.92467	0.5982	10	0.62326	D	0.03	.	16.3436	0.83110	0.0:0.0:0.0:1.0	.	570	O60741	HCN1_HUMAN	Y	570	ENSP00000307342:N570Y	ENSP00000307342:N570Y	N	-	1	0	HCN1	45303023	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.698000	0.84413	2.269000	0.75478	0.533000	0.62120	AAC		0.433	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		9	198	0	0	0	0.006214	0	9	198				
MAP3K1	4214	broad.mit.edu	37	5	56183268	56183268	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr5:56183268C>G	ENST00000399503.3	+	18	4178	c.4178C>G	c.(4177-4179)gCc>gGc	p.A1393G		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1393	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)	p.A1230G(2)|p.A1393G(2)		NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		GGAGCTGCAGCCAGGTTGGCA	0.443																																							uc003jqw.3		NA																	4	Substitution - Missense(4)		lung(4)	ovary(1)|skin(1)	2						c.(4177-4179)GCC>GGC		mitogen-activated protein kinase kinase kinase							163.0	150.0	154.0					5																	56183268		1896	4125	6021	SO:0001583	missense	4214				cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	g.chr5:56183268C>G	U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.4178C>G	5.37:g.56183268C>G	ENSP00000382423:p.Ala1393Gly						p.A1393G	NM_005921	NP_005912	Q13233	M3K1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)	18	4679	+		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)	1393			Protein kinase.			Missense_Mutation	SNP	ENST00000399503.3	37	c.4178C>G	CCDS43318.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.709756	0.89018	.	.	ENSG00000095015	ENST00000399503	T	0.25250	1.81	5.68	5.68	0.88126	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.37652	0.1011	L	0.49640	1.575	0.80722	D	1	P	0.34934	0.476	P	0.44772	0.46	T	0.04178	-1.0971	10	0.42905	T	0.14	.	19.786	0.96437	0.0:1.0:0.0:0.0	.	1393	Q13233	M3K1_HUMAN	G	1393	ENSP00000382423:A1393G	ENSP00000382423:A1393G	A	+	2	0	MAP3K1	56219025	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.597000	0.74118	2.676000	0.91093	0.563000	0.77884	GCC		0.443	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066		11	157	0	0	0	0.001368	0	11	157				
POLK	51426	broad.mit.edu	37	5	74880722	74880722	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr5:74880722C>T	ENST00000241436.4	+	9	1369	c.1197C>T	c.(1195-1197)tcC>tcT	p.S399S	POLK_ENST00000352007.5_Intron|POLK_ENST00000506928.1_3'UTR|POLK_ENST00000508526.1_Intron|POLK_ENST00000380481.3_Silent_p.S309S|POLK_ENST00000504026.1_Silent_p.S399S|POLK_ENST00000515295.1_Silent_p.S399S	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	399					DNA repair (GO:0006281)|nucleotide-excision repair, DNA gap filling (GO:0006297)	nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)	p.S399S(4)		endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		TTCATATCTCCTTGGGTCTAG	0.388								DNA polymerases (catalytic subunits)																															uc003kdw.2		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(2)|kidney(2)	4						c.(1195-1197)TCC>TCT	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA-directed DNA polymerase kappa							204.0	199.0	201.0					5																	74880722		2203	4300	6503	SO:0001819	synonymous_variant	51426				DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding	g.chr5:74880722C>T	AB027564	CCDS4030.1	5q13	2012-05-18			ENSG00000122008	ENSG00000122008		"""DNA polymerases"""	9183	protein-coding gene	gene with protein product	"""polymerase (DNA-directed) kappa"", ""DINB protein"", ""DNA polymerase kappa"""	605650		DINB1		10887153, 10518552	Standard	NM_016218		Approved	POLQ, DINP	uc003kdw.3	Q9UBT6	OTTHUMG00000102107	ENST00000241436.4:c.1197C>T	5.37:g.74880722C>T						POLK_uc003kdx.2_RNA|POLK_uc003kdy.2_RNA|POLK_uc003keb.2_Silent_p.S399S|POLK_uc010izq.2_Intron|POLK_uc003kec.2_Silent_p.S309S|POLK_uc010izr.2_RNA|POLK_uc010izs.2_RNA|POLK_uc003ked.2_Silent_p.S309S|POLK_uc003kee.2_Silent_p.S399S|POLK_uc003kef.2_Silent_p.S309S	p.S399S	NM_016218	NP_057302	Q9UBT6	POLK_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)	9	1293	+		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)	399					B2RBD2|Q5Q9G5|Q5Q9G6|Q5Q9G7|Q5Q9G8|Q86VJ8|Q8IZY0|Q8IZY1|Q8NB30|Q96L01|Q96Q86|Q96Q87|Q9UHC5	Silent	SNP	ENST00000241436.4	37	c.1197C>T	CCDS4030.1																																																																																				0.388	POLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219945.3	NM_016218		8	208	0	0	0	0.006214	0	8	208				
CETN3	1070	broad.mit.edu	37	5	89695226	89695226	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr5:89695226C>A	ENST00000283122.3	-	4	533	c.409G>T	c.(409-411)Gaa>Taa	p.E137*	CETN3_ENST00000522565.1_Nonsense_Mutation_p.E137*|CETN3_ENST00000522864.1_Intron|CETN3_ENST00000522083.1_Nonsense_Mutation_p.E137*	NM_004365.2	NP_004356.2	O15182	CETN3_HUMAN	centrin, EF-hand protein, 3	137	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				centrosome cycle (GO:0007098)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|photoreceptor connecting cilium (GO:0032391)	calcium ion binding (GO:0005509)	p.E137*(2)		lung(3)	3		all_cancers(142;7.93e-09)|all_epithelial(76;2.13e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.42e-32)|Epithelial(54;1.45e-26)|all cancers(79;2.87e-23)		CGAAGTTCTTCATCACTCATG	0.358																																							uc003kjo.2		NA																	2	Substitution - Nonsense(2)		lung(2)		0						c.(409-411)GAA>TAA		centrin 3							168.0	155.0	159.0					5																	89695226		2203	4299	6502	SO:0001587	stop_gained	1070				cell division|centrosome cycle|mitosis	centriole	calcium ion binding	g.chr5:89695226C>A	Y12473	CCDS4066.1, CCDS75274.1	5q14.3	2013-01-10	2010-06-24		ENSG00000153140	ENSG00000153140		"""EF-hand domain containing"""	1868	protein-coding gene	gene with protein product	"""CDC31 yeast homolog"", ""EF-hand superfamily member"""	602907	"""centrin, EF-hand protein, 3 (CDC31 yeast homolog)"""			9256449	Standard	XM_006714521		Approved	CEN3	uc003kjo.3	O15182	OTTHUMG00000131326	ENST00000283122.3:c.409G>T	5.37:g.89695226C>A	ENSP00000283122:p.Glu137*						p.E137*	NM_004365	NP_004356	O15182	CETN3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.42e-32)|Epithelial(54;1.45e-26)|all cancers(79;2.87e-23)	4	534	-		all_cancers(142;7.93e-09)|all_epithelial(76;2.13e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)	137			EF-hand 4.		Q53YD2|Q9BS23	Nonsense_Mutation	SNP	ENST00000283122.3	37	c.409G>T	CCDS4066.1	.	.	.	.	.	.	.	.	.	.	C	36	5.754139	0.96890	.	.	ENSG00000153140	ENST00000283122;ENST00000522083;ENST00000522565	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.295	0.94118	0.0:1.0:0.0:0.0	.	.	.	.	X	137	.	ENSP00000283122:E137X	E	-	1	0	CETN3	89730982	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.729000	0.84864	2.803000	0.96430	0.591000	0.81541	GAA		0.358	CETN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254097.1	NM_004365		19	98	1	0	1.56452e-12	0.007413	1.80842e-12	19	98				
MCTP1	79772	broad.mit.edu	37	5	94248517	94248517	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr5:94248517C>G	ENST00000515393.1	-	9	1514	c.1515G>C	c.(1513-1515)aaG>aaC	p.K505N	MCTP1_ENST00000505208.1_Missense_Mutation_p.K284N|MCTP1_ENST00000312216.8_Missense_Mutation_p.K284N|MCTP1_ENST00000505078.1_Missense_Mutation_p.K21N|MCTP1_ENST00000429576.2_Missense_Mutation_p.K238N	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	505	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.K505N(2)		breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TTACCTTGCTCTTGTACTTCT	0.458																																							uc003kkx.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1513-1515)AAG>AAC		multiple C2 domains, transmembrane 1 isoform L							111.0	101.0	105.0					5																	94248517		2203	4300	6503	SO:0001583	missense	79772				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	g.chr5:94248517C>G		CCDS34203.1, CCDS47247.1, CCDS75275.1	5q15	2008-02-05			ENSG00000175471	ENSG00000175471			26183	protein-coding gene	gene with protein product						15528213	Standard	XM_005272082		Approved	FLJ22344	uc003kkx.2	Q6DN14	OTTHUMG00000162742	ENST00000515393.1:c.1515G>C	5.37:g.94248517C>G	ENSP00000424126:p.Lys505Asn					MCTP1_uc003kkv.2_Missense_Mutation_p.K284N|MCTP1_uc003kkw.2_Missense_Mutation_p.K238N|MCTP1_uc003kkz.2_Missense_Mutation_p.K166N|MCTP1_uc003kku.2_Missense_Mutation_p.K21N	p.K505N	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN		all cancers(79;9.1e-17)	9	1515	-		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)	505			C2 2.		Q6DN13|Q8N2W1|Q8NBA2|Q96LX0|Q9H6E8	Missense_Mutation	SNP	ENST00000515393.1	37	c.1515G>C	CCDS34203.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.8|21.8	4.207633|4.207633	0.79240|0.79240	.|.	.|.	ENSG00000175471|ENSG00000175471	ENST00000503301|ENST00000515393;ENST00000429576;ENST00000505078;ENST00000312216;ENST00000508509;ENST00000512425;ENST00000505208;ENST00000506568;ENST00000415885	.|T;T;T;T;T;T;T;T	.|0.72394	.|0.69;-0.65;0.69;0.69;-0.65;0.69;0.69;-0.65	5.72|5.72	3.95|3.95	0.45737|0.45737	.|C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	.|0.046217	.|0.85682	.|D	.|0.000000	T|T	0.75079|0.75079	0.3801|0.3801	M|M	0.87328|0.87328	2.875|2.875	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.32543	.|0.193;0.018;0.375	.|B;B;B	.|0.36845	.|0.225;0.027;0.234	T|T	0.75747|0.75747	-0.3209|-0.3209	5|10	.|0.87932	.|D	.|0	-18.1668|-18.1668	11.1729|11.1729	0.48582|0.48582	0.0:0.7962:0.0:0.2038|0.0:0.7962:0.0:0.2038	.|.	.|505;238;284	.|Q6DN14;Q6DN14-3;Q6DN14-2	.|MCTP1_HUMAN;.;.	Q|N	268|505;238;21;284;225;166;284;106;200	.|ENSP00000424126:K505N;ENSP00000391639:K238N;ENSP00000426417:K21N;ENSP00000308957:K284N;ENSP00000423410:K225N;ENSP00000431075:K166N;ENSP00000426438:K284N;ENSP00000426294:K106N	.|ENSP00000308957:K284N	E|K	-|-	1|3	0|2	MCTP1|MCTP1	94274273|94274273	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	0.795000|0.795000	0.26972|0.26972	0.769000|0.769000	0.33313|0.33313	0.650000|0.650000	0.86243|0.86243	GAG|AAG		0.458	MCTP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370280.3	NM_024717		25	100	0	0	0	0.005443	0	25	100				
LNPEP	4012	broad.mit.edu	37	5	96350700	96350700	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr5:96350700G>A	ENST00000231368.5	+	13	2969	c.2277G>A	c.(2275-2277)gaG>gaA	p.E759E	LNPEP_ENST00000395770.3_Silent_p.E745E	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	759					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|membrane organization (GO:0061024)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome lumen (GO:0031905)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.E759E(2)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		TTGGAAATGAGAACCATACTG	0.433																																							uc003kmv.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)|breast(1)	4						c.(2275-2277)GAG>GAA		leucyl/cystinyl aminopeptidase isoform 1							130.0	124.0	126.0					5																	96350700		2203	4300	6503	SO:0001819	synonymous_variant	4012				cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr5:96350700G>A	D50810	CCDS4087.1, CCDS43346.1	5q15	2011-07-25			ENSG00000113441	ENSG00000113441	3.4.11.3		6656	protein-coding gene	gene with protein product	"""cystinyl aminopeptidase"", ""placental leucine aminopeptidase"""	151300				8550619	Standard	NM_175920		Approved	CAP, PLAP, P-LAP	uc003kmw.1	Q9UIQ6	OTTHUMG00000128719	ENST00000231368.5:c.2277G>A	5.37:g.96350700G>A						LNPEP_uc003kmw.1_Silent_p.E745E	p.E759E	NM_005575	NP_005566	Q9UIQ6	LCAP_HUMAN		COAD - Colon adenocarcinoma(37;0.072)	13	2791	+		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)	759			Extracellular (Potential).		O00769|Q15145|Q59H76|Q9TNQ2|Q9TNQ3|Q9UIQ7	Silent	SNP	ENST00000231368.5	37	c.2277G>A	CCDS4087.1																																																																																				0.433	LNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250624.1	NM_005575		34	172	0	0	0	0.003755	0	34	172				
UQCRQ	27089	broad.mit.edu	37	5	132203218	132203218	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr5:132203218G>C	ENST00000378670.3	+	3	334	c.193G>C	c.(193-195)Gaa>Caa	p.E65Q	UQCRQ_ENST00000378667.1_Missense_Mutation_p.E65Q|GDF9_ENST00000378673.2_5'Flank|UQCRQ_ENST00000496429.1_3'UTR|UQCRQ_ENST00000378665.1_Missense_Mutation_p.E65Q|GDF9_ENST00000464378.1_5'Flank|GDF9_ENST00000296875.2_5'Flank	NM_014402.4	NP_055217.2	O14949	QCR8_HUMAN	ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa	65					cellular metabolic process (GO:0044237)|cerebellar Purkinje cell layer development (GO:0021680)|hippocampus development (GO:0021766)|hypothalamus development (GO:0021854)|midbrain development (GO:0030901)|pons development (GO:0021548)|pyramidal neuron development (GO:0021860)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|subthalamus development (GO:0021539)|thalamus development (GO:0021794)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|respiratory chain (GO:0070469)	ubiquinol-cytochrome-c reductase activity (GO:0008121)	p.E65Q(2)		lung(3)	3		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATGGGGGACTGAAGAGTTCGA	0.388																																							uc003kya.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(193-195)GAA>CAA		ubiquinol-cytochrome c reductase, complex III							86.0	85.0	85.0					5																	132203218		2203	4300	6503	SO:0001583	missense	27089				respiratory electron transport chain	mitochondrial inner membrane|respiratory chain	ubiquinol-cytochrome-c reductase activity	g.chr5:132203218G>C	BC001390	CCDS34237.1	5q31.1	2011-07-04			ENSG00000164405	ENSG00000164405	1.10.2.2	"""Mitochondrial respiratory chain complex / Complex III"""	29594	protein-coding gene	gene with protein product	"""ubiquinol-cytochrome c reductase, complex III subunit VII"", ""complex III subunit 8"""	612080				15544925, 12709789, 2164842	Standard	NM_014402		Approved	QP-C, QCR8, UQCR7	uc003kya.1	O14949	OTTHUMG00000059836	ENST00000378670.3:c.193G>C	5.37:g.132203218G>C	ENSP00000367939:p.Glu65Gln					GDF9_uc003kxz.1_5'Flank|GDF9_uc011cxj.1_5'Flank	p.E65Q	NM_014402	NP_055217	O14949	QCR8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		3	267	+		all_cancers(142;0.105)|Breast(839;0.198)	65					Q5FVE2|Q9BV88|Q9T2V7	Missense_Mutation	SNP	ENST00000378670.3	37	c.193G>C	CCDS34237.1	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.549786	0.00926	.	.	ENSG00000164405	ENST00000378670;ENST00000378667;ENST00000378665	T;T;T	0.77877	-1.13;-1.13;-1.13	5.72	0.504	0.16946	.	0.547903	0.20148	N	0.098228	T	0.64483	0.2602	.	.	.	0.09310	N	1	B	0.12013	0.005	B	0.12837	0.008	T	0.39292	-0.9621	9	0.11794	T	0.64	-15.7206	19.5991	0.95552	0.0:0.3775:0.6225:0.0	.	65	O14949	QCR8_HUMAN	Q	65	ENSP00000367939:E65Q;ENSP00000367936:E65Q;ENSP00000367934:E65Q	ENSP00000367934:E65Q	E	+	1	0	UQCRQ	132231117	0.000000	0.05858	0.267000	0.24556	0.124000	0.20399	-0.622000	0.05553	0.056000	0.16144	0.655000	0.94253	GAA		0.388	UQCRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133040.1	NM_014402		10	64	0	0	0	0.008291	0	10	64				
KLHL3	26249	broad.mit.edu	37	5	136963999	136963999	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr5:136963999G>T	ENST00000309755.4	-	13	2021	c.1578C>A	c.(1576-1578)tgC>tgA	p.C526*	KLHL3_ENST00000541417.1_3'UTR|KLHL3_ENST00000506873.1_5'UTR|KLHL3_ENST00000508657.1_Nonsense_Mutation_p.C494*|KLHL3_ENST00000506491.1_Nonsense_Mutation_p.C444*	NM_017415.2	NP_059111.2	Q9UH77	KLHL3_HUMAN	kelch-like family member 3	526					distal tubule morphogenesis (GO:0072156)|ion homeostasis (GO:0050801)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|renal sodium ion absorption (GO:0070294)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)	p.C526*(2)|p.C526C(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		CGTTGCGCCGGCACATGTTCA	0.537																																							uc010jek.2		NA																	3	Substitution - Nonsense(2)|Substitution - coding silent(1)		lung(3)		0						c.(1576-1578)TGC>TGA		kelch-like 3							234.0	200.0	212.0					5																	136963999		2203	4300	6503	SO:0001587	stop_gained	26249					cytoplasm|cytoskeleton	actin binding|structural molecule activity	g.chr5:136963999G>T	AB032955	CCDS4192.1, CCDS58969.1, CCDS58970.1	5q31	2013-01-30	2013-01-30		ENSG00000146021	ENSG00000146021		"""Kelch-like"", ""BTB/POZ domain containing"""	6354	protein-coding gene	gene with protein product		605775	"""kelch (Drosophila)-like 3"", ""kelch-like 3 (Drosophila)"""			10843806	Standard	NM_017415		Approved	KIAA1129	uc010jek.3	Q9UH77	OTTHUMG00000129155	ENST00000309755.4:c.1578C>A	5.37:g.136963999G>T	ENSP00000312397:p.Cys526*					KLHL3_uc011cyc.1_Nonsense_Mutation_p.C261*|KLHL3_uc003lbr.3_Nonsense_Mutation_p.C444*|KLHL3_uc011cyd.1_RNA	p.C526*	NM_017415	NP_059111	Q9UH77	KLHL3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)	13	2022	-		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	526			Kelch 5.		B2RBK7|Q9UH75|Q9UH76|Q9ULU0|Q9Y6V6	Nonsense_Mutation	SNP	ENST00000309755.4	37	c.1578C>A	CCDS4192.1	.	.	.	.	.	.	.	.	.	.	G	42	9.281879	0.99123	.	.	ENSG00000146021	ENST00000506491;ENST00000508657;ENST00000309755	.	.	.	5.54	2.61	0.31194	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	9.7425	0.40427	0.331:0.0:0.669:0.0	.	.	.	.	X	444;494;526	.	ENSP00000312397:C526X	C	-	3	2	KLHL3	136991898	0.989000	0.36119	1.000000	0.80357	0.997000	0.91878	0.248000	0.18198	0.894000	0.36317	0.655000	0.94253	TGC		0.537	KLHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251220.2			61	251	1	0	1.08141e-31	0.00361	1.34733e-31	61	251				
PCDHA8	56140	broad.mit.edu	37	5	140222842	140222842	+	Missense_Mutation	SNP	C	C	T	rs146582216		TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr5:140222842C>T	ENST00000531613.1	+	1	1936	c.1936C>T	c.(1936-1938)Cgt>Tgt	p.R646C	PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.R646C|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	646	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.R646C(4)		NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCGCGCCACCGTCTGCTGGT	0.662																																							uc003lhs.2		NA																	4	Substitution - Missense(4)		lung(4)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1936-1938)CGT>TGT		protocadherin alpha 8 isoform 1 precursor							102.0	100.0	101.0					5																	140222842		2197	4267	6464	SO:0001583	missense	56140				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140222842C>T	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.1936C>T	5.37:g.140222842C>T	ENSP00000434655:p.Arg646Cys					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Missense_Mutation_p.R646C	p.R646C	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1936	+			646			Cadherin 6.|Extracellular (Potential).		B9EGT7|O75281	Missense_Mutation	SNP	ENST00000531613.1	37	c.1936C>T	CCDS54919.1	.	.	.	.	.	.	.	.	.	.	C	9.059	0.994022	0.19043	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.53640	0.61;0.61	2.93	0.86	0.19042	Cadherin (4);Cadherin-like (1);	0.277620	0.16672	U	0.204305	T	0.44371	0.1290	M	0.88105	2.93	0.28742	N	0.901893	P;B	0.35174	0.488;0.144	B;B	0.24848	0.056;0.019	T	0.49934	-0.8886	10	0.62326	D	0.03	.	4.4958	0.11837	0.4505:0.4182:0.0:0.1313	.	646;646	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	C	646	ENSP00000434655:R646C;ENSP00000367363:R646C	ENSP00000367363:R646C	R	+	1	0	PCDHA8	140203026	0.000000	0.05858	0.959000	0.39883	0.160000	0.22226	-0.416000	0.07097	0.547000	0.28938	-0.657000	0.03884	CGT		0.662	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		18	214	0	0	0	0.006122	0	18	214				
JAKMIP2	9832	broad.mit.edu	37	5	146997641	146997641	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr5:146997641G>C	ENST00000265272.5	-	19	2646	c.2179C>G	c.(2179-2181)Cta>Gta	p.L727V	JAKMIP2_ENST00000333010.6_Missense_Mutation_p.L685V|JAKMIP2_ENST00000507386.1_Missense_Mutation_p.L706V	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	727						Golgi apparatus (GO:0005794)		p.L727V(2)		NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTTGCTGTAGAGCATTGTAC	0.408																																							uc003loq.1		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(1)|ovary(1)	2						c.(2179-2181)CTA>GTA		janus kinase and microtubule interacting protein							140.0	133.0	136.0					5																	146997641		2203	4300	6503	SO:0001583	missense	9832					Golgi apparatus		g.chr5:146997641G>C	AB011127	CCDS4285.1, CCDS59495.1, CCDS64284.1, CCDS75352.1	5q32	2009-08-13	2009-08-13		ENSG00000176049	ENSG00000176049			29067	protein-coding gene	gene with protein product		611197				9628581	Standard	NM_001270941		Approved	JAMIP2, KIAA0555	uc010jgo.2	Q96AA8	OTTHUMG00000129731	ENST00000265272.5:c.2179C>G	5.37:g.146997641G>C	ENSP00000265272:p.Leu727Val					JAKMIP2_uc011dbx.1_Missense_Mutation_p.L685V|JAKMIP2_uc003lor.1_Missense_Mutation_p.L706V|uc003lop.1_Intron|JAKMIP2_uc010jgo.1_Missense_Mutation_p.L727V	p.L727V	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		19	2561	-			727			Potential.		A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1	Missense_Mutation	SNP	ENST00000265272.5	37	c.2179C>G	CCDS4285.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.769037	0.69992	.	.	ENSG00000176049	ENST00000507386;ENST00000265272;ENST00000333010;ENST00000539401	T;T;T	0.28895	1.59;1.59;1.59	5.61	4.52	0.55395	.	0.000000	0.64402	D	0.000003	T	0.45637	0.1352	M	0.64404	1.975	0.44762	D	0.997765	D;D;D;D	0.56035	0.974;0.974;0.974;0.974	D;D;D;D	0.67725	0.953;0.953;0.953;0.953	T	0.23440	-1.0188	10	0.38643	T	0.18	.	7.4678	0.27332	0.1833:0.0:0.8167:0.0	.	685;727;706;727	B4DSG0;Q96AA8-3;G5E9Y0;Q96AA8	.;.;.;JKIP2_HUMAN	V	706;727;685;706	ENSP00000421398:L706V;ENSP00000265272:L727V;ENSP00000328989:L685V	ENSP00000265272:L727V	L	-	1	2	JAKMIP2	146977834	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.908000	0.63307	2.802000	0.96397	0.563000	0.77884	CTA		0.408	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251941.1	NM_014790		21	136	0	0	0	0.002299	0	21	136				
PDGFRB	5159	broad.mit.edu	37	5	149514487	149514487	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr5:149514487C>G	ENST00000261799.4	-	4	926	c.457G>C	c.(457-459)Gac>Cac	p.D153H		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	153	Ig-like C2-type 2.				adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)	p.D153H(2)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGCTGTGGGTCTGTTACTCGG	0.522			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""																																		uc003lro.2		NA		Dom	yes		5	5q31-q32	5159	T	"""platelet-derived growth factor receptor, beta polypeptide"""			L	ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP		MPD|AML|CMML|CML		2	Substitution - Missense(2)		lung(2)	central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1)	17						c.(457-459)GAC>CAC		platelet-derived growth factor receptor beta	Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						137.0	137.0	137.0					5																	149514487		2203	4300	6503	SO:0001583	missense	5159				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	g.chr5:149514487C>G	M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.457G>C	5.37:g.149514487C>G	ENSP00000261799:p.Asp153His					PDGFRB_uc010jhd.2_5'UTR|PDGFRB_uc011dcg.1_Missense_Mutation_p.D153H	p.D153H	NM_002609	NP_002600	P09619	PGFRB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		4	926	-		all_hematologic(541;0.224)	153			Extracellular (Potential).|Ig-like C2-type 2.		B5A957|Q8N5L4	Missense_Mutation	SNP	ENST00000261799.4	37	c.457G>C	CCDS4303.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.050728	0.75960	.	.	ENSG00000113721	ENST00000261799;ENST00000517488;ENST00000517957	T;T;T	0.43294	0.95;0.95;0.95	5.85	5.85	0.93711	Immunoglobulin-like fold (1);	0.098510	0.44902	D	0.000414	T	0.64148	0.2572	M	0.76170	2.325	0.45261	D	0.998269	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.968	T	0.66528	-0.5901	10	0.87932	D	0	.	13.7862	0.63110	0.0:0.9214:0.0:0.0786	.	153;153	B5A957;P09619	.;PGFRB_HUMAN	H	153;89;153	ENSP00000261799:D153H;ENSP00000429218:D89H;ENSP00000430715:D153H	ENSP00000261799:D153H	D	-	1	0	PDGFRB	149494680	0.871000	0.30034	1.000000	0.80357	0.977000	0.68977	1.522000	0.35921	2.767000	0.95098	0.655000	0.94253	GAC		0.522	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	NM_002609		42	208	0	0	0	0.003214	0	42	208				
CYFIP2	26999	broad.mit.edu	37	5	156755057	156755057	+	Splice_Site	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr5:156755057G>T	ENST00000521420.1	+	18	2169	c.2078G>T	c.(2077-2079)aGt>aTt	p.S693I	CYFIP2_ENST00000522463.1_Splice_Site_p.S523I|CYFIP2_ENST00000541131.1_Splice_Site_p.S644I|CYFIP2_ENST00000435847.2_Splice_Site_p.S418I|CYFIP2_ENST00000377576.3_Splice_Site_p.S719I|CYFIP2_ENST00000347377.6_Splice_Site_p.S719I|CYFIP2_ENST00000318218.6_Splice_Site_p.S744I|CYFIP2_ENST00000442283.2_Splice_Site_p.S4I					cytoplasmic FMR1 interacting protein 2									p.S744I(4)|p.S719I(2)		breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATGGCTGGCAGGTAGGAAAGC	0.468																																							uc003lwq.2		NA																	6	Substitution - Missense(6)		lung(6)		0						c.(2155-2157)AGT>ATT		cytoplasmic FMR1 interacting protein 2							62.0	61.0	61.0					5																	156755057		1900	4133	6033	SO:0001630	splice_region_variant	26999				apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding	g.chr5:156755057G>T	AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"""p53 inducible protein"""	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.2078+1G>T	5.37:g.156755057G>T						CYFIP2_uc011ddn.1_Missense_Mutation_p.S693I|CYFIP2_uc011ddo.1_Missense_Mutation_p.S523I|CYFIP2_uc003lwr.2_Missense_Mutation_p.S719I|CYFIP2_uc003lws.2_Missense_Mutation_p.S719I|CYFIP2_uc003lwt.2_Missense_Mutation_p.S622I|CYFIP2_uc011ddp.1_Missense_Mutation_p.S453I	p.S719I	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		21	2294	+	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	744						Missense_Mutation	SNP	ENST00000521420.1	37	c.2156G>T		.	.	.	.	.	.	.	.	.	.	G	32	5.155215	0.94686	.	.	ENSG00000055163	ENST00000318218;ENST00000442283;ENST00000522463;ENST00000521420;ENST00000347377;ENST00000377576;ENST00000541131;ENST00000435847	T;T;T;T;T;T;T;T	0.24350	1.86;1.86;1.86;1.86;1.86;1.86;1.86;1.86	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.58836	0.2150	M	0.87547	2.89	0.80722	D	1	P;P;P;P;P;P	0.49253	0.859;0.881;0.87;0.81;0.921;0.818	P;P;P;P;P;D	0.65140	0.643;0.742;0.782;0.522;0.851;0.932	T	0.63625	-0.6595	10	0.87932	D	0	-17.1	19.8968	0.96969	0.0:0.0:1.0:0.0	.	583;523;693;719;719;744	A8MUM2;E7EW33;E7EVJ5;E7EVF4;Q96F07-2;Q96F07	.;.;.;.;.;CYFP2_HUMAN	I	744;4;523;693;719;719;644;418	ENSP00000325817:S744I;ENSP00000390948:S4I;ENSP00000428009:S523I;ENSP00000430904:S693I;ENSP00000313567:S719I;ENSP00000366799:S719I;ENSP00000444645:S644I;ENSP00000403793:S418I	ENSP00000325817:S744I	S	+	2	0	CYFIP2	156687635	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	9.814000	0.99346	2.691000	0.91804	0.655000	0.94253	AGT		0.468	CYFIP2-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000373710.1	NM_001037332	Missense_Mutation	13	83	1	0	7.93312e-07	0.00245	8.70639e-07	13	83				
NIPAL4	348938	broad.mit.edu	37	5	156899773	156899773	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr5:156899773C>G	ENST00000311946.7	+	6	1322	c.1206C>G	c.(1204-1206)ttC>ttG	p.F402L	ADAM19_ENST00000430702.2_Intron|NIPAL4_ENST00000435489.2_Missense_Mutation_p.F383L	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN	NIPA-like domain containing 4	402						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)	p.F340L(2)		breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						TGGGCGTGTTCATGCTGCATG	0.547																																							uc003lwx.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1204-1206)TTC>TTG		ichthyin protein							81.0	78.0	79.0					5																	156899773		2117	4257	6374	SO:0001583	missense	348938					integral to membrane	receptor activity	g.chr5:156899773C>G	AK026158	CCDS47328.1, CCDS54944.1	5q33.3	2009-03-24	2009-03-24		ENSG00000172548	ENSG00000172548			28018	protein-coding gene	gene with protein product	"""ichthyin"""	609383	"""NIPA-like 4"""			8619474, 9110174, 15317751	Standard	NM_001099287		Approved	ICHYN	uc003lwx.4	Q0D2K0	OTTHUMG00000163497	ENST00000311946.7:c.1206C>G	5.37:g.156899773C>G	ENSP00000311687:p.Phe402Leu					ADAM19_uc003lww.1_Intron|NIPAL4_uc011ddq.1_Missense_Mutation_p.F383L	p.F402L	NM_001099287	NP_001092757	Q0D2K0	NIPA4_HUMAN			6	1322	+			402			Helical; (Potential).		A8S6F1|A8S6F5|A8S6F8|B4DLF3|Q0D2J8|Q0D2J9	Missense_Mutation	SNP	ENST00000311946.7	37	c.1206C>G	CCDS47328.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.296632	0.81025	.	.	ENSG00000172548	ENST00000435489;ENST00000311946	D;D	0.91351	-2.83;-2.83	5.93	4.14	0.48551	.	0.186755	0.64402	D	0.000015	D	0.92815	0.7715	M	0.83012	2.62	0.58432	D	0.999993	P;P	0.50943	0.94;0.906	P;P	0.52343	0.57;0.696	D	0.92076	0.5668	10	0.72032	D	0.01	-22.8505	9.3778	0.38295	0.0:0.7296:0.0:0.2704	.	383;402	Q0D2K0-2;Q0D2K0	.;NIPA4_HUMAN	L	383;402	ENSP00000406456:F383L;ENSP00000311687:F402L	ENSP00000311687:F402L	F	+	3	2	NIPAL4	156832351	0.996000	0.38824	1.000000	0.80357	0.985000	0.73830	0.591000	0.23969	0.823000	0.34589	0.561000	0.74099	TTC		0.547	NIPAL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373789.1	NM_001099287		15	95	0	0	0	0.004007	0	15	95				
NOP16	51491	broad.mit.edu	37	5	175812222	175812222	+	Splice_Site	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr5:175812222C>T	ENST00000389158.5	-	4	828	c.393G>A	c.(391-393)aaG>aaA	p.K131K	NOP16_ENST00000509257.1_Silent_p.K131K|NOP16_ENST00000507413.1_Intron|NOP16_ENST00000510123.1_Splice_Site_p.K131K			Q9Y3C1	NOP16_HUMAN	NOP16 nucleolar protein	131						intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.K106K(2)|p.K131K(2)		central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	8						AGCCGCTCACCTTATAGTCCT	0.562																																							uc011dfl.1		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(1)|central_nervous_system(1)	2						c.(391-393)AAG>AAA		NOP16 nucleolar protein homolog							91.0	93.0	92.0					5																	175812222		1908	4118	6026	SO:0001630	splice_region_variant	51491					nucleolus		g.chr5:175812222C>T		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.393+1G>A	5.37:g.175812222C>T						NOP16_uc003med.2_Silent_p.K131K|NOP16_uc003mee.2_Silent_p.K131K	p.K131K	NM_016391	NP_057475	Q9Y3C1	NOP16_HUMAN			4	393	-			131					B4DV13|D6RGD3|Q05D05|Q6IAI6|Q8IXL5	Silent	SNP	ENST00000389158.5	37	c.393G>A	CCDS43403.1																																																																																				0.562	NOP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371963.1	NM_016391	Silent	25	149	0	0	0	0.004656	0	25	149				
GRK6	2870	broad.mit.edu	37	5	176859748	176859748	+	Silent	SNP	G	G	C	rs558569042		TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr5:176859748G>C	ENST00000355472.5	+	5	549	c.381G>C	c.(379-381)acG>acC	p.T127T	GRK6_ENST00000355958.5_Silent_p.T127T|GRK6_ENST00000507633.1_Silent_p.T127T|GRK6_ENST00000528793.1_Silent_p.T127T|GRK6_ENST00000393576.3_Silent_p.T127T	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6	127	N-terminal.|RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)	p.T127T(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCTGGTGACGAACTGCACCC	0.632																																							uc011dfz.1		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|stomach(1)|breast(1)	3						c.(379-381)ACG>ACC		G protein-coupled receptor kinase 6 isoform B							22.0	24.0	23.0					5																	176859748		2202	4299	6501	SO:0001819	synonymous_variant	2870				regulation of G-protein coupled receptor protein signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr5:176859748G>C		CCDS34303.1, CCDS43406.1, CCDS47348.1	5q35	2011-01-14	2004-02-04	2004-02-06	ENSG00000198055	ENSG00000198055			4545	protein-coding gene	gene with protein product		600869		GPRK6		8415712	Standard	NM_002082		Approved		uc021yiu.1	P43250	OTTHUMG00000163401	ENST00000355472.5:c.381G>C	5.37:g.176859748G>C						GRK6_uc003mgp.2_Silent_p.T127T|GRK6_uc003mgq.2_Silent_p.T127T|GRK6_uc003mgs.1_Silent_p.T97T	p.T127T	NM_002082	NP_002073	P43250	GRK6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	541	+	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	127			N-terminal.|RGS.		O60541|Q13652	Silent	SNP	ENST00000355472.5	37	c.381G>C	CCDS34303.1																																																																																				0.632	GRK6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373204.1	NM_002082		4	42	0	0	0	0.001984	0	4	42				
GRK6	2870	broad.mit.edu	37	5	176867754	176867754	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr5:176867754C>T	ENST00000355472.5	+	14	1626	c.1458C>T	c.(1456-1458)gtC>gtT	p.V486V	PRR7-AS1_ENST00000511565.1_RNA|GRK6_ENST00000355958.5_Silent_p.V486V|PRR7-AS1_ENST00000425316.3_RNA|GRK6_ENST00000528793.1_Silent_p.V486V|GRK6_ENST00000393576.3_Silent_p.V452V|PRR7-AS1_ENST00000514846.1_RNA	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6	486	AGC-kinase C-terminal.				regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)	p.V486V(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCTCTACGGTCAAGGGCGTGG	0.582																																							uc011dfz.1		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|stomach(1)|breast(1)	3						c.(1456-1458)GTC>GTT		G protein-coupled receptor kinase 6 isoform B							97.0	92.0	93.0					5																	176867754		2203	4300	6503	SO:0001819	synonymous_variant	2870				regulation of G-protein coupled receptor protein signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr5:176867754C>T		CCDS34303.1, CCDS43406.1, CCDS47348.1	5q35	2011-01-14	2004-02-04	2004-02-06	ENSG00000198055	ENSG00000198055			4545	protein-coding gene	gene with protein product		600869		GPRK6		8415712	Standard	NM_002082		Approved		uc021yiu.1	P43250	OTTHUMG00000163401	ENST00000355472.5:c.1458C>T	5.37:g.176867754C>T						GRK6_uc003mgq.2_Silent_p.V486V|GRK6_uc003mgs.1_Silent_p.V456V|uc003mgt.2_Intron	p.V486V	NM_002082	NP_002073	P43250	GRK6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		14	1618	+	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	486			AGC-kinase C-terminal.		O60541|Q13652	Silent	SNP	ENST00000355472.5	37	c.1458C>T	CCDS34303.1																																																																																				0.582	GRK6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373204.1	NM_002082		31	112	0	0	0	0.008361	0	31	112				
RUFY1	80230	broad.mit.edu	37	5	178996340	178996340	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr5:178996340G>A	ENST00000319449.4	+	5	754	c.742G>A	c.(742-744)Gaa>Aaa	p.E248K	RUFY1_ENST00000393438.2_Missense_Mutation_p.E140K|RUFY1_ENST00000377001.2_Missense_Mutation_p.E248K|RUFY1_ENST00000437570.2_Missense_Mutation_p.E140K	NM_025158.4	NP_079434.3	Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1	248	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				endocytosis (GO:0006897)|regulation of endocytosis (GO:0030100)	cytoplasm (GO:0005737)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	lipid binding (GO:0008289)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)	p.E140K(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GATGGAGGAAGAAGGGATGGT	0.478										HNSCC(44;0.11)																													uc003mka.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|breast(1)	5						c.(742-744)GAA>AAA		RUN and FYVE domain-containing 1 isoform a							316.0	275.0	289.0					5																	178996340		2203	4300	6503	SO:0001583	missense	80230				endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding	g.chr5:178996340G>A	AF361055	CCDS4445.2, CCDS34312.1	5q35.3	2008-02-05			ENSG00000176783	ENSG00000176783		"""Zinc fingers, FYVE domain containing"""	19760	protein-coding gene	gene with protein product		610327				11877430	Standard	NM_001040451		Approved	FLJ22251, ZFYVE12, RABIP4	uc003mka.2	Q96T51	OTTHUMG00000130913	ENST00000319449.4:c.742G>A	5.37:g.178996340G>A	ENSP00000325594:p.Glu248Lys	HNSCC(44;0.11)				RUFY1_uc003mkb.1_Missense_Mutation_p.E140K|RUFY1_uc003mkc.1_Missense_Mutation_p.E140K	p.E248K	NM_025158	NP_079434	Q96T51	RUFY1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	742	+	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	248			RUN.		Q59FF3|Q71S93|Q9H6I3	Missense_Mutation	SNP	ENST00000319449.4	37	c.742G>A	CCDS4445.2	.	.	.	.	.	.	.	.	.	.	G	36	5.695266	0.96793	.	.	ENSG00000176783	ENST00000319449;ENST00000377001;ENST00000437570;ENST00000393438	T;T;T;T	0.14766	2.48;2.48;2.48;2.48	5.04	5.04	0.67666	RUN (3);	0.000000	0.85682	D	0.000000	T	0.48095	0.1481	M	0.91196	3.185	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.58399	-0.7643	10	0.52906	T	0.07	-17.0459	18.7431	0.91782	0.0:0.0:1.0:0.0	.	248	Q96T51	RUFY1_HUMAN	K	248;248;140;140	ENSP00000325594:E248K;ENSP00000366200:E248K;ENSP00000390025:E140K;ENSP00000377087:E140K	ENSP00000325594:E248K	E	+	1	0	RUFY1	178928946	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.722000	0.98770	2.490000	0.84030	0.561000	0.74099	GAA		0.478	RUFY1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253505.2	NM_001040451		17	273	0	0	0	0.006122	0	17	273				
TRIM7	81786	broad.mit.edu	37	5	180622504	180622504	+	Missense_Mutation	SNP	C	C	G	rs554493109		TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr5:180622504C>G	ENST00000274773.7	-	7	1259	c.1198G>C	c.(1198-1200)Gag>Cag	p.E400Q	CTC-338M12.6_ENST00000512508.1_RNA|TRIM7_ENST00000504241.1_5'UTR|CTC-338M12.5_ENST00000514487.1_RNA|CTC-338M12.5_ENST00000508877.1_RNA|TRIM7_ENST00000393315.1_Missense_Mutation_p.E192Q|CTC-338M12.6_ENST00000502812.2_RNA|TRIM7_ENST00000361809.3_Missense_Mutation_p.E192Q|TRIM7_ENST00000422067.2_Missense_Mutation_p.E192Q|CTC-338M12.6_ENST00000509080.1_RNA|TRIM7_ENST00000393319.3_Missense_Mutation_p.E218Q	NM_203293.1	NP_976038.1	Q9C029	TRIM7_HUMAN	tripartite motif containing 7	400	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.E400Q(2)		NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		ACCTCCACCTCCCAGTGATGC	0.716																																					Esophageal Squamous(128;2258 2308 35507 48647)	Esophageal Squamous(128;2258 2308 35507 48647)	uc003mmz.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(1198-1200)GAG>CAG		tripartite motif-containing 7 isoform 1							20.0	22.0	21.0					5																	180622504		2178	4259	6437	SO:0001583	missense	81786					cytoplasm|nucleus	zinc ion binding	g.chr5:180622504C>G	AF220032	CCDS4462.1, CCDS4463.1, CCDS4464.1, CCDS43414.1	5q35.3	2013-01-09	2011-01-25		ENSG00000146054	ENSG00000146054		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16278	protein-coding gene	gene with protein product	"""glycogenin-interacting protein"", ""tripartite motif protein TRIM7"""	609315	"""tripartite motif-containing 7"""			11331580	Standard	NM_203294		Approved	RNF90, GNIP	uc003mmz.1	Q9C029	OTTHUMG00000130963	ENST00000274773.7:c.1198G>C	5.37:g.180622504C>G	ENSP00000274773:p.Glu400Gln					TRIM7_uc003mmv.1_Missense_Mutation_p.E218Q|TRIM7_uc003mmw.1_Missense_Mutation_p.E192Q|TRIM7_uc003mmx.1_Missense_Mutation_p.E192Q|TRIM7_uc003mmy.1_Missense_Mutation_p.E192Q	p.E400Q	NM_203293	NP_976038	Q9C029	TRIM7_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)	7	1265	-	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	400			B30.2/SPRY.		A2RUE4|D3DWR7|Q969F5|Q96F67|Q96J89|Q96J90	Missense_Mutation	SNP	ENST00000274773.7	37	c.1198G>C	CCDS4462.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.897432	0.91962	.	.	ENSG00000146054	ENST00000274773;ENST00000393315;ENST00000361809;ENST00000393319;ENST00000422067	T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13	4.65	4.65	0.58169	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.56097	D	0.000037	D	0.89438	0.6715	M	0.88450	2.955	0.52099	D	0.999944	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.91645	0.5330	10	0.87932	D	0	.	15.0318	0.71713	0.0:1.0:0.0:0.0	.	400;218	Q9C029;Q9C029-4	TRIM7_HUMAN;.	Q	400;192;192;218;192	ENSP00000274773:E400Q;ENSP00000376991:E192Q;ENSP00000355059:E192Q;ENSP00000376994:E218Q;ENSP00000391458:E192Q	ENSP00000274773:E400Q	E	-	1	0	TRIM7	180555110	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.792000	0.85828	2.117000	0.64856	0.478000	0.44815	GAG		0.716	TRIM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253569.3	NM_203296		12	37	0	0	0	0.003163	0	12	37				
DNAH8	1769	broad.mit.edu	37	6	38790666	38790666	+	Silent	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr6:38790666G>T	ENST00000359357.3	+	25	3179	c.2925G>T	c.(2923-2925)ggG>ggT	p.G975G	DNAH8_ENST00000449981.2_Silent_p.G1192G|SNORA8_ENST00000391284.1_RNA|DNAH8_ENST00000441566.1_Silent_p.G975G			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	975					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)	p.G975G(4)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTTACCCGGGGGTAGCGGAGC	0.413																																							uc003ooe.1		NA																	4	Substitution - coding silent(4)		lung(4)	skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(2923-2925)GGG>GGT		dynein, axonemal, heavy polypeptide 8							56.0	56.0	56.0					6																	38790666		2203	4300	6503	SO:0001819	synonymous_variant	1769							g.chr6:38790666G>T	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.2925G>T	6.37:g.38790666G>T							p.G975G	NM_001371	NP_001362					25	3525	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP	ENST00000359357.3	37	c.2925G>T																																																																																					0.413	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		10	58	1	0	0.00621372	0.006214	0.006447	10	58				
TBCC	6903	broad.mit.edu	37	6	42713509	42713509	+	Silent	SNP	T	T	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr6:42713509T>G	ENST00000372876.1	-	1	325	c.303A>C	c.(301-303)tcA>tcC	p.S101S	TBCC_ENST00000244625.2_Silent_p.S101S	NM_003192.2	NP_003183	Q15814	TBCC_HUMAN	tubulin folding cofactor C	101					'de novo' posttranslational protein folding (GO:0051084)|cell morphogenesis (GO:0000902)|cellular protein metabolic process (GO:0044267)|GTP catabolic process (GO:0006184)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)	chaperone binding (GO:0051087)|GTPase activity (GO:0003924)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(3)	14	Colorectal(47;0.196)		all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)			GGAAAAAAACTGAGTCGTTGA	0.682																																							uc003osl.2		NA																	0					0						c.(301-303)TCA>TCC		beta-tubulin cofactor C							34.0	42.0	39.0					6																	42713509		2203	4297	6500	SO:0001819	synonymous_variant	6903				'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|photoreceptor connecting cilium	chaperone binding|GTPase activity	g.chr6:42713509T>G	U61234	CCDS4872.1	6p21.1	2008-02-05	2006-11-21		ENSG00000124659	ENSG00000124659			11580	protein-coding gene	gene with protein product		602971	"""tubulin-specific chaperone c"""			8706133, 11847227	Standard	NM_003192		Approved	CFC	uc003osl.3	Q15814	OTTHUMG00000014704	ENST00000372876.1:c.303A>C	6.37:g.42713509T>G							p.S101S	NM_003192	NP_003183	Q15814	TBCC_HUMAN	all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)		1	376	-	Colorectal(47;0.196)		101					Q53Y43|Q5T787	Silent	SNP	ENST00000372876.1	37	c.303A>C	CCDS4872.1																																																																																				0.682	TBCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040559.1	NM_003192		5	107	0	0	0	0.001984	0	5	107				
SLC35B2	347734	broad.mit.edu	37	6	44222521	44222521	+	Silent	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr6:44222521G>C	ENST00000393812.3	-	4	1364	c.1221C>G	c.(1219-1221)ctC>ctG	p.L407L	MIR4647_ENST00000583964.1_RNA|SLC35B2_ENST00000537814.1_Silent_p.L274L|SLC35B2_ENST00000495706.1_5'UTR|SLC35B2_ENST00000393810.1_3'UTR|SLC35B2_ENST00000538577.1_Silent_p.L314L	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2	407					3'-phospho-5'-adenylyl sulfate transmembrane transport (GO:1902559)|3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|3'-phosphoadenosine 5'-phosphosulfate transport (GO:0046963)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity (GO:0046964)|signal transducer activity (GO:0004871)	p.L407L(2)		breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CGTAGACTCTGAGCAGGAGGG	0.602																																							uc003oxd.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(1219-1221)CTC>CTG		solute carrier family 35, member B2							85.0	87.0	87.0					6																	44222521		2203	4300	6503	SO:0001819	synonymous_variant	347734				positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity	g.chr6:44222521G>C	AK075456	CCDS34462.1, CCDS69127.1, CCDS75462.1, CCDS75463.1	6p12.1-p11.21	2013-07-17	2013-07-17		ENSG00000157593	ENSG00000157593		"""Solute carriers"""	16872	protein-coding gene	gene with protein product		610788	"""solute carrier family 35, member B2"""				Standard	NM_001286517		Approved	UGTrel4	uc003oxd.3	Q8TB61	OTTHUMG00000014760	ENST00000393812.3:c.1221C>G	6.37:g.44222521G>C						SLC35B2_uc011dvt.1_Silent_p.L310L|SLC35B2_uc011dvu.1_Silent_p.L274L	p.L407L	NM_178148	NP_835361	Q8TB61	S35B2_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		4	1357	-	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		407			Helical; (Potential).		B4DDU9|F5H7Y9|Q2VY06|Q53GA3|Q5T9W1|Q5T9W2|Q7Z2G3|Q8NBK6|Q96AR6	Silent	SNP	ENST00000393812.3	37	c.1221C>G	CCDS34462.1																																																																																				0.602	SLC35B2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040724.2			21	142	0	0	0	0.001882	0	21	142				
MUT	4594	broad.mit.edu	37	6	49425625	49425625	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr6:49425625G>C	ENST00000274813.3	-	3	659	c.532C>G	c.(532-534)Cct>Gct	p.P178A		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	178					cellular lipid metabolic process (GO:0044255)|cobalamin metabolic process (GO:0009235)|fatty acid beta-oxidation (GO:0006635)|homocysteine metabolic process (GO:0050667)|post-embryonic development (GO:0009791)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)|methylmalonyl-CoA mutase activity (GO:0004494)|modified amino acid binding (GO:0072341)	p.P178A(2)		endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTTTCTAAAGGAATTCCATCA	0.383																																							uc003ozg.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(532-534)CCT>GCT		methylmalonyl Coenzyme A mutase precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						69.0	71.0	71.0					6																	49425625		2203	4300	6503	SO:0001583	missense	4594				fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity	g.chr6:49425625G>C		CCDS4924.1	6p21	2012-10-02	2010-04-30		ENSG00000146085	ENSG00000146085	5.4.99.2		7526	protein-coding gene	gene with protein product		609058	"""methylmalonyl Coenzyme A mutase"""			2907507, 9503014	Standard	NM_000255		Approved		uc003ozg.4	P22033	OTTHUMG00000014814	ENST00000274813.3:c.532C>G	6.37:g.49425625G>C	ENSP00000274813:p.Pro178Ala						p.P178A	NM_000255	NP_000246	P22033	MUTA_HUMAN			3	787	-	Lung NSC(77;0.0376)		178					A8K953|Q5SYZ3|Q96B11|Q9UD64	Missense_Mutation	SNP	ENST00000274813.3	37	c.532C>G	CCDS4924.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.421472	0.62622	.	.	ENSG00000146085	ENST00000274813	D	0.98329	-4.87	5.65	5.65	0.86999	Cobalamin (vitamin B12)-dependent enzyme, catalytic (1);Cobalamin (vitamin B12)-dependent enzyme, catalytic subdomain (1);Methylmalonyl-CoA mutase, alpha/beta chain, catalytic (1);Methylmalonyl-CoA mutase, alpha chain, catalytic (1);	0.000000	0.85682	D	0.000000	D	0.98529	0.9509	M	0.91768	3.24	0.80722	D	1	B	0.29552	0.248	B	0.41202	0.35	D	0.98331	1.0533	10	0.66056	D	0.02	-6.6426	19.063	0.93100	0.0:0.0:1.0:0.0	.	178	P22033	MUTA_HUMAN	A	178	ENSP00000274813:P178A	ENSP00000274813:P178A	P	-	1	0	MUT	49533584	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.358000	0.97109	2.826000	0.97356	0.491000	0.48974	CCT		0.383	MUT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040854.1			13	101	0	0	0	0.001855	0	13	101				
PKHD1	5314	broad.mit.edu	37	6	51889442	51889442	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr6:51889442G>A	ENST00000371117.3	-	32	5441	c.5166C>T	c.(5164-5166)atC>atT	p.I1722I	PKHD1_ENST00000340994.4_Silent_p.I1722I	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1722	IPT/TIG 12; atypical.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.I1722I(4)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CCCACCCTCTGATGCAGTCAT	0.532																																							uc003pah.1		NA																	4	Substitution - coding silent(4)		lung(4)	lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(5164-5166)ATC>ATT		fibrocystin isoform 1							87.0	85.0	86.0					6																	51889442		2203	4300	6503	SO:0001819	synonymous_variant	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51889442G>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.5166C>T	6.37:g.51889442G>A						PKHD1_uc003pai.2_Silent_p.I1722I	p.I1722I	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			32	5442	-	Lung NSC(77;0.0605)		1722			IPT/TIG 12; atypical.|Extracellular (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	c.5166C>T	CCDS4935.1																																																																																				0.532	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		14	153	0	0	0	0.00245	0	14	153				
ELOVL5	60481	broad.mit.edu	37	6	53156718	53156718	+	Silent	SNP	G	G	A	rs374432575		TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr6:53156718G>A	ENST00000542638.1	-	3	549	c.102C>T	c.(100-102)ccC>ccT	p.P34P	ELOVL5_ENST00000370918.4_Silent_p.P34P|ELOVL5_ENST00000304434.6_Silent_p.P34P|ELOVL5_ENST00000486973.1_5'UTR|ELOVL5_ENST00000541407.1_Silent_p.P34P			Q9NYP7	ELOV5_HUMAN	ELOVL fatty acid elongase 5	34					alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid elongation, monounsaturated fatty acid (GO:0034625)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|linoleic acid metabolic process (GO:0043651)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	fatty acid elongase activity (GO:0009922)	p.P34P(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7	Lung NSC(77;0.116)					AGATAAATGTGGGTATATAAT	0.318																																							uc003pbq.1		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(100-102)CCC>CCT		elongation of very long chain fatty acids-like		G	,,	0,4406		0,0,2203	94.0	97.0	96.0		102,102,102	-11.9	0.0	6		96	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	ELOVL5	NM_001242828.1,NM_001242830.1,NM_021814.4	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	34/327,34/263,34/300	53156718	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	60481				fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding	g.chr6:53156718G>A	AF052129	CCDS4951.1, CCDS56433.1, CCDS56434.1, CCDS75470.1	6p21.1-p12.1	2014-07-30	2011-05-25		ENSG00000012660	ENSG00000012660			21308	protein-coding gene	gene with protein product		611805	"""ELOVL family member 5, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast)"", ""spinocerebellar ataxia 38"""	SCA38		10970790, 25065913	Standard	NM_021814		Approved	HELO1, dJ483K16.1	uc011dwx.2	Q9NYP7	OTTHUMG00000016249	ENST00000542638.1:c.102C>T	6.37:g.53156718G>A						ELOVL5_uc003pbr.1_Silent_p.P34P|ELOVL5_uc011dwx.1_Silent_p.P34P|ELOVL5_uc003pbs.1_Silent_p.P34P	p.P34P	NM_021814	NP_068586	Q9NYP7	ELOV5_HUMAN			3	550	-	Lung NSC(77;0.116)		34			Helical; (Potential).		B4DZJ2|F6SH78|Q59EL3|Q5TGH5|Q6NXE7|Q7L2S5|Q8NCG4|Q9UI22	Silent	SNP	ENST00000542638.1	37	c.102C>T	CCDS4951.1																																																																																				0.318	ELOVL5-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043566.1	NM_021814		11	123	0	0	0	0.001855	0	11	123				
TAAR9	134860	broad.mit.edu	37	6	132859813	132859813	+	RNA	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr6:132859813G>T	ENST00000434551.1	+	0	385					NM_175057.3	NP_778227.3	Q96RI9	TAAR9_HUMAN	trace amine associated receptor 9 (gene/pseudogene)						G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)					Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)		TATCTCTGTTGATAGATACAT	0.383																																					Colon(10;433 445 15992 45047 47213)	Colon(10;433 445 15992 45047 47213)	uc011eci.1		NA																	0					0						c.(385-387)GAT>TAT		trace amine associated receptor 9							152.0	143.0	145.0					6																	132859813		1999	4163	6162			134860					plasma membrane	G-protein coupled receptor activity	g.chr6:132859813G>T	AF380189	CCDS75520.1	6q23.2	2013-10-02	2010-03-12	2005-02-24	ENSG00000237110	ENSG00000237110		"""GPCR / Class A : Trace amine associated receptors"""	20977	protein-coding gene	gene with protein product		608282	"""trace amine receptor 3"", ""trace amine associated receptor 9"""	TRAR3		15718104	Standard	NM_175057		Approved	TA3, TAR3	uc011eci.2	Q96RI9	OTTHUMG00000015578		6.37:g.132859813G>T							p.D129Y	NM_175057	NP_778227	Q96RI9	TAAR9_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)	2	387	+	Breast(56;0.112)		129			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000434551.1	37	c.385G>T																																																																																					0.383	TAAR9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000042254.2	NM_175057		8	91	1	0	3.09899e-07	0.004482	3.42579e-07	8	91				
UTRN	7402	broad.mit.edu	37	6	145103245	145103245	+	Silent	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr6:145103245C>G	ENST00000367545.3	+	60	8820	c.8820C>G	c.(8818-8820)ctC>ctG	p.L2940L	UTRN_ENST00000367526.4_Silent_p.L495L	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2940	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.L2940L(2)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		ATTGGTTGCTCAATGTCTATG	0.323																																							uc003qkt.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(4)|pancreas(1)	5						c.(8818-8820)CTC>CTG		utrophin							92.0	83.0	86.0					6																	145103245		2203	4300	6503	SO:0001819	synonymous_variant	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:145103245C>G	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.8820C>G	6.37:g.145103245C>G							p.L2940L	NM_007124	NP_009055	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	60	8912	+		Ovarian(120;0.218)	2940			Interaction with SYNM.		Q5SYY1|Q5SZ57|Q9UJ40	Silent	SNP	ENST00000367545.3	37	c.8820C>G	CCDS34547.1																																																																																				0.323	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			9	54	0	0	0	0.008291	0	9	54				
ULBP3	79465	broad.mit.edu	37	6	150385794	150385794	+	Silent	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr6:150385794G>C	ENST00000367339.2	-	4	712	c.684C>G	c.(682-684)ctC>ctG	p.L228L	ULBP3_ENST00000438272.2_Silent_p.L228L			Q9BZM4	N2DL3_HUMAN	UL16 binding protein 3	228					antigen processing and presentation (GO:0019882)|natural killer cell activation (GO:0030101)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of immune response (GO:0050776)|viral process (GO:0016032)	anchored component of plasma membrane (GO:0046658)|plasma membrane (GO:0005886)	natural killer cell lectin-like receptor binding (GO:0046703)	p.L228L(2)		central_nervous_system(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	9		Ovarian(120;0.12)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.45e-12)		TCCAGGGACTGAGGGTGGTGG	0.527																																							uc003qns.3		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(682-684)CTC>CTG		UL16 binding protein 3 precursor							247.0	206.0	220.0					6																	150385794		2203	4300	6503	SO:0001819	synonymous_variant	79465				antigen processing and presentation|immune response|natural killer cell activation	anchored to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:150385794G>C	AF304379	CCDS5225.1	6q25	2008-04-11			ENSG00000131019	ENSG00000131019			14895	protein-coding gene	gene with protein product		605699				11239445, 11827464	Standard	NM_024518		Approved	RAET1N	uc003qns.3	Q9BZM4	OTTHUMG00000015811	ENST00000367339.2:c.684C>G	6.37:g.150385794G>C						ULBP3_uc011eej.1_Silent_p.L103L	p.L228L	NM_024518	NP_078794	Q9BZM4	N2DL3_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.45e-12)	4	684	-		Ovarian(120;0.12)	228					Q5VY82|Q8IZX5|Q8TE75	Silent	SNP	ENST00000367339.2	37	c.684C>G	CCDS5225.1																																																																																				0.527	ULBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042678.2			15	126	0	0	0	0.00499	0	15	126				
TRA2A	29896	broad.mit.edu	37	7	23571409	23571409	+	Splice_Site	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr7:23571409C>G	ENST00000297071.4	-	1	251	c.35G>C	c.(34-36)aGa>aCa	p.R12T	TRA2A_ENST00000392502.4_5'UTR|TRA2A_ENST00000474586.1_5'Flank|TRA2A_ENST00000538367.1_5'UTR	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN	transformer 2 alpha homolog (Drosophila)	12					mRNA splicing, via spliceosome (GO:0000398)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R12T(2)		endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						TGTACTCACTCTGCCCTCGAA	0.612																																					Pancreas(121;2137 2973 46590)	Pancreas(121;2137 2973 46590)	uc003swi.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(34-36)AGA>ACA		transformer-2 alpha							65.0	62.0	63.0					7																	23571409		2203	4300	6503	SO:0001630	splice_region_variant	29896				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|RNA binding	g.chr7:23571409C>G	U53209	CCDS5383.1, CCDS64609.1, CCDS75569.1	7p15.3	2014-02-12			ENSG00000164548	ENSG00000164548		"""RNA binding motif (RRM) containing"""	16645	protein-coding gene	gene with protein product		602718				8799144, 9546399	Standard	XM_005249725		Approved	htra-2-alpha, tra2a, AWMS1	uc003swi.3	Q13595	OTTHUMG00000128459	ENST00000297071.4:c.36+1G>C	7.37:g.23571409C>G						TRA2A_uc011jzb.1_RNA|TRA2A_uc011jzc.1_5'UTR|TRA2A_uc011jzd.1_5'UTR|TRA2A_uc010kuo.1_RNA	p.R12T	NM_013293	NP_037425	Q13595	TRA2A_HUMAN			1	249	-			12					B4DUA9	Missense_Mutation	SNP	ENST00000297071.4	37	c.35G>C	CCDS5383.1	.	.	.	.	.	.	.	.	.	.	C	13.14	2.148681	0.37923	.	.	ENSG00000164548	ENST00000297071	T	0.25579	1.79	5.06	4.18	0.49190	.	0.154911	0.53938	D	0.000052	T	0.24005	0.0581	L	0.43923	1.385	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.04537	-1.0944	10	0.59425	D	0.04	-1.9514	13.7178	0.62708	0.0:0.8455:0.1545:0.0	.	12	Q13595	TRA2A_HUMAN	T	12	ENSP00000297071:R12T	ENSP00000297071:R12T	R	-	2	0	TRA2A	23537934	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	3.008000	0.49544	1.360000	0.45960	0.585000	0.79938	AGA		0.612	TRA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250257.1	NM_013293	Missense_Mutation	12	100	0	0	0	0.003163	0	12	100				
DFNA5	1687	broad.mit.edu	37	7	24756942	24756942	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr7:24756942C>A	ENST00000342947.3	-	5	1053	c.628G>T	c.(628-630)Gag>Tag	p.E210*	DFNA5_ENST00000409970.1_Nonsense_Mutation_p.E46*|DFNA5_ENST00000419307.1_Nonsense_Mutation_p.E46*|DFNA5_ENST00000409775.3_Nonsense_Mutation_p.E210*|DFNA5_ENST00000559637.1_5'UTR|DFNA5_ENST00000545231.1_Nonsense_Mutation_p.E46*	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	210					apoptotic process (GO:0006915)|inner ear receptor cell differentiation (GO:0060113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)		p.E210*(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						GCTGGGATCTCCAGCACCACG	0.587																																					GBM(78;184 1250 20134 20900 23600)	GBM(78;184 1250 20134 20900 23600)	uc010kus.1		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(628-630)GAG>TAG		deafness, autosomal dominant 5 protein isoform							153.0	108.0	123.0					7																	24756942		2203	4300	6503	SO:0001587	stop_gained	1687				sensory perception of sound			g.chr7:24756942C>A	AF007790	CCDS5389.1, CCDS47563.1	7p15	2011-07-01			ENSG00000105928	ENSG00000105928			2810	protein-coding gene	gene with protein product		608798				8589696, 9450185	Standard	NM_004403		Approved	ICERE-1	uc010kus.1	O60443	OTTHUMG00000023237	ENST00000342947.3:c.628G>T	7.37:g.24756942C>A	ENSP00000339587:p.Glu210*					DFNA5_uc003swz.2_Nonsense_Mutation_p.E46*|DFNA5_uc003sxa.1_Nonsense_Mutation_p.E210*|DFNA5_uc010kut.1_Nonsense_Mutation_p.E46*|DFNA5_uc003sxb.2_Nonsense_Mutation_p.E210*	p.E210*	NM_001127453	NP_001120925	O60443	DFNA5_HUMAN			5	716	-			210					A4D156|B2RAX9|B3KT05|O14590|Q08AQ8|Q9UBV3	Nonsense_Mutation	SNP	ENST00000342947.3	37	c.628G>T	CCDS5389.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.593877|6.593877	0.97692|0.97692	.|.	.|.	ENSG00000105928|ENSG00000105928	ENST00000342947;ENST00000419307;ENST00000545231;ENST00000409970;ENST00000409775|ENST00000446822	.|.	.|.	.|.	5.7|5.7	5.7|5.7	0.88788|0.88788	.|.	0.236179|.	0.43416|.	D|.	0.000579|.	.|T	.|0.75117	.|0.3806	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72928	.|-0.4143	.|3	0.36615|.	T|.	0.2|.	-26.6507|-26.6507	18.5849|18.5849	0.91185|0.91185	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|C	210;46;46;46;210|34	.|.	ENSP00000339587:E210X|.	E|W	-|-	1|3	0|0	DFNA5|DFNA5	24723467|24723467	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	4.759000|4.759000	0.62227|0.62227	2.676000|2.676000	0.91093|0.91093	0.655000|0.655000	0.94253|0.94253	GAG|TGG		0.587	DFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214060.2	NM_004403		17	91	1	0	0.000422831	0.004007	0.000447877	17	91				
GARS	2617	broad.mit.edu	37	7	30661020	30661020	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr7:30661020G>A	ENST00000389266.3	+	11	1612	c.1371G>A	c.(1369-1371)gaG>gaA	p.E457E		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	457					cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|glycyl-tRNA aminoacylation (GO:0006426)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|glycine-tRNA ligase activity (GO:0004820)|protein dimerization activity (GO:0046983)	p.E457E(2)		breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	GTTGGATTGAGATTGTTGGAT	0.368																																							uc003tbm.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1369-1371)GAG>GAA		glycyl-tRNA synthetase	Glycine(DB00145)						221.0	211.0	214.0					7																	30661020		1878	4113	5991	SO:0001819	synonymous_variant	2617				cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity	g.chr7:30661020G>A	AK074524	CCDS43564.1	7p15	2014-09-17	2004-02-13		ENSG00000106105	ENSG00000106105	6.1.1.14	"""Aminoacyl tRNA synthetases / Class II"""	4162	protein-coding gene	gene with protein product	"""glycine tRNA ligase"""	600287	"""Charcot-Marie-Tooth neuropathy 2D"""	CMT2D		8595897, 8872480	Standard	NM_002047		Approved	GlyRS, DSMAV, SMAD1	uc003tbm.3	P41250	OTTHUMG00000152769	ENST00000389266.3:c.1371G>A	7.37:g.30661020G>A							p.E457E	NM_002047	NP_002038	P41250	SYG_HUMAN			11	1728	+			457			ATP.		B3KQA2|B4DIA0|Q969Y1	Silent	SNP	ENST00000389266.3	37	c.1371G>A	CCDS43564.1																																																																																				0.368	GARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327735.1	NM_002047		48	229	0	0	0	0.003214	0	48	229				
PURB	5814	broad.mit.edu	37	7	44924761	44924761	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr7:44924761C>T	ENST00000395699.2	-	1	199	c.187G>A	c.(187-189)Gag>Aag	p.E63K	RP4-673M15.1_ENST00000608450.1_RNA	NM_033224.3	NP_150093.1	Q96QR8	PURB_HUMAN	purine-rich element binding protein B	63					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of myeloid cell differentiation (GO:0045637)|transcription, DNA-templated (GO:0006351)	DNA replication factor A complex (GO:0005662)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)	p.E63K(1)		large_intestine(2)|lung(3)|prostate(1)|skin(1)	7						GCGCCCACCTCGGCGATCTTG	0.632																																							uc003tme.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(187-189)GAG>AAG		purine-rich element binding protein B							20.0	21.0	20.0					7																	44924761		2201	4298	6499	SO:0001583	missense	5814				regulation of myeloid cell differentiation	DNA replication factor A complex	mRNA binding|single-stranded DNA binding|transcription factor binding	g.chr7:44924761C>T		CCDS5499.1	7p13	2008-07-18			ENSG00000146676	ENSG00000146676			9702	protein-coding gene	gene with protein product		608887				1448097	Standard	NM_033224		Approved	PURBETA	uc003tme.3	Q96QR8	OTTHUMG00000023578	ENST00000395699.2:c.187G>A	7.37:g.44924761C>T	ENSP00000379051:p.Glu63Lys						p.E63K	NM_033224	NP_150093	Q96QR8	PURB_HUMAN			1	200	-			63			By similarity.		A4D2L7	Missense_Mutation	SNP	ENST00000395699.2	37	c.187G>A	CCDS5499.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.321327	0.81580	.	.	ENSG00000146676	ENST00000395699	T	0.47869	0.83	3.1	2.2	0.27929	.	0.000000	0.64402	U	0.000002	T	0.69824	0.3154	M	0.90595	3.13	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.72858	-0.4165	10	0.87932	D	0	.	9.4811	0.38902	0.2131:0.7869:0.0:0.0	.	63	Q96QR8	PURB_HUMAN	K	63	ENSP00000379051:E63K	ENSP00000379051:E63K	E	-	1	0	PURB	44891286	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.023000	0.76437	0.646000	0.30693	0.449000	0.29647	GAG		0.632	PURB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251332.2	NM_033224		5	36	0	0	0	0.001168	0	5	36				
ABCA13	154664	broad.mit.edu	37	7	48349715	48349715	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr7:48349715G>C	ENST00000435803.1	+	24	9517	c.9493G>C	c.(9493-9495)Gat>Cat	p.D3165H		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3165					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.D3165H(2)|p.D3110H(2)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TCGAAACTTGGATGTGCGAGC	0.502																																							uc003toq.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(5)|central_nervous_system(4)|skin(1)	10						c.(9493-9495)GAT>CAT		ATP binding cassette, sub-family A (ABC1),							249.0	246.0	247.0					7																	48349715		2007	4193	6200	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48349715G>C	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.9493G>C	7.37:g.48349715G>C	ENSP00000411096:p.Asp3165His					ABCA13_uc010kys.1_Missense_Mutation_p.D239H|ABCA13_uc003tos.1_5'Flank	p.D3165H	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			24	9518	+			3165					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.9493G>C	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	11.67	1.707631	0.30322	.	.	ENSG00000179869	ENST00000435803	D	0.90563	-2.69	5.69	-3.13	0.05266	.	0.632408	0.14582	N	0.310784	D	0.88138	0.6356	N	0.24115	0.695	0.58432	D	0.999991	D;D	0.57571	0.98;0.966	P;P	0.58130	0.833;0.564	D	0.85271	0.1056	10	0.87932	D	0	.	12.1345	0.53964	0.5518:0.0:0.4482:0.0	.	867;3165	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	H	3165	ENSP00000411096:D3165H	ENSP00000411096:D3165H	D	+	1	0	ABCA13	48320261	0.842000	0.29525	0.502000	0.27614	0.019000	0.09904	0.092000	0.15066	-0.404000	0.07610	-0.302000	0.09304	GAT		0.502	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		42	367	0	0	0	0.003214	0	42	367				
ABCA13	154664	broad.mit.edu	37	7	48563896	48563896	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr7:48563896G>A	ENST00000435803.1	+	54	14128	c.14104G>A	c.(14104-14106)Gaa>Aaa	p.E4702K	ABCA13_ENST00000544596.1_Missense_Mutation_p.E432K	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4702					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.E4647K(2)|p.E4702K(2)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TACAGATGTTGAAAAAGAGGA	0.383																																							uc003toq.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(5)|central_nervous_system(4)|skin(1)	10						c.(14104-14106)GAA>AAA		ATP binding cassette, sub-family A (ABC1),							99.0	97.0	98.0					7																	48563896		1858	4098	5956	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48563896G>A	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.14104G>A	7.37:g.48563896G>A	ENSP00000411096:p.Glu4702Lys					ABCA13_uc010kys.1_Missense_Mutation_p.E1777K|ABCA13_uc010kyt.1_RNA|ABCA13_uc010kyu.1_Missense_Mutation_p.E432K	p.E4702K	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			54	14129	+			4702					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.14104G>A	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	9.400	1.077747	0.20227	.	.	ENSG00000179869	ENST00000435803;ENST00000411975;ENST00000544596	D;D;D	0.87334	-1.97;-2.24;-2.2	5.43	1.37	0.22104	.	0.347846	0.23640	N	0.046035	T	0.67887	0.2941	N	0.12502	0.225	0.09310	N	1	B;B;B	0.27140	0.007;0.169;0.11	B;B;B	0.26969	0.007;0.075;0.024	T	0.52815	-0.8525	10	0.12430	T	0.62	.	3.3436	0.07127	0.1561:0.1371:0.5656:0.1412	.	432;2404;4702	F5H7B7;Q86UQ4-3;Q86UQ4	.;.;ABCAD_HUMAN	K	4702;475;432	ENSP00000411096:E4702K;ENSP00000391042:E475K;ENSP00000442634:E432K	ENSP00000391042:E475K	E	+	1	0	ABCA13	48534442	0.991000	0.36638	0.070000	0.20053	0.335000	0.28730	1.335000	0.33839	0.744000	0.32741	-0.136000	0.14681	GAA		0.383	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		7	27	0	0	0	0.004482	0	7	27				
COBL	23242	broad.mit.edu	37	7	51261203	51261203	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr7:51261203G>A	ENST00000265136.7	-	3	494	c.329C>T	c.(328-330)tCa>tTa	p.S110L	COBL_ENST00000395542.2_Missense_Mutation_p.S110L|COBL_ENST00000395540.2_Missense_Mutation_p.S110L|COBL_ENST00000441453.1_Missense_Mutation_p.S110L	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	110					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)	p.S110L(2)		NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TTGGGTTTCTGAAGACCGAAT	0.423																																					NSCLC(189;2119 2138 12223 30818 34679)	NSCLC(189;2119 2138 12223 30818 34679)	uc003tpr.3		NA																	2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(2)	5						c.(328-330)TCA>TTA		cordon-bleu homolog							96.0	86.0	90.0					7																	51261203		2203	4300	6503	SO:0001583	missense	23242							g.chr7:51261203G>A	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"""cordon-bleu homolog (mouse)"""				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.329C>T	7.37:g.51261203G>A	ENSP00000265136:p.Ser110Leu					COBL_uc003tps.2_Missense_Mutation_p.S110L|COBL_uc011kcl.1_Missense_Mutation_p.S110L|COBL_uc010kzc.2_Missense_Mutation_p.S110L|COBL_uc003tpt.2_Missense_Mutation_p.S110L|COBL_uc003tpp.3_5'Flank|COBL_uc003tpq.3_Missense_Mutation_p.S26L	p.S110L	NM_015198	NP_056013	O75128	COBL_HUMAN			3	514	-	Glioma(55;0.08)		110					A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Missense_Mutation	SNP	ENST00000265136.7	37	c.329C>T	CCDS34637.1	.	.	.	.	.	.	.	.	.	.	G	12.03	1.816932	0.32145	.	.	ENSG00000106078	ENST00000265136;ENST00000395542;ENST00000395540;ENST00000441453;ENST00000449281	T;T	0.11930	2.73;2.76	5.58	2.56	0.30785	Cordon-bleu domain (1);	0.262756	0.20490	N	0.091315	T	0.07052	0.0179	N	0.22421	0.69	0.09310	N	1	B;B;B;B;B	0.31931	0.009;0.003;0.347;0.011;0.064	B;B;B;B;B	0.26416	0.013;0.009;0.069;0.006;0.062	T	0.30446	-0.9978	10	0.25751	T	0.34	.	5.8179	0.18506	0.2941:0.1413:0.5647:0.0	.	110;110;110;110;110	O75128-3;O75128-5;O75128-7;O75128;O75128-2	.;.;.;COBL_HUMAN;.	L	110;110;110;110;94	ENSP00000265136:S110L;ENSP00000378912:S110L	ENSP00000265136:S110L	S	-	2	0	COBL	51228697	0.062000	0.20869	0.877000	0.34402	0.990000	0.78478	1.486000	0.35530	1.198000	0.43158	0.655000	0.94253	TCA		0.423	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198		22	86	0	0	0	0.002299	0	22	86				
ABHD11	83451	broad.mit.edu	37	7	73150991	73150991	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr7:73150991G>A	ENST00000222800.3	-	6	915	c.846C>T	c.(844-846)ctC>ctT	p.L282L	ABHD11_ENST00000468998.1_5'Flank|ABHD11_ENST00000458339.1_3'UTR|ABHD11_ENST00000395147.4_Silent_p.L225L|LINC00035_ENST00000427153.1_RNA|ABHD11_ENST00000437775.2_Silent_p.L275L	NM_148912.2	NP_683710.1	Q8NFV4	ABHDB_HUMAN	abhydrolase domain containing 11	282						mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)	p.L282L(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Lung NSC(55;0.0908)|all_lung(88;0.198)				CCCGAGGGAAGAGCCGCATAA	0.607																																							uc003tzb.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(844-846)CTC>CTT		abhydrolase domain containing 11 isoform 1							93.0	87.0	89.0					7																	73150991		2203	4300	6503	SO:0001819	synonymous_variant	83451						hydrolase activity	g.chr7:73150991G>A	AF217971	CCDS5558.1, CCDS47607.1, CCDS47608.1, CCDS75615.1	7q11.23	2010-08-05	2005-01-24	2005-01-27	ENSG00000106077	ENSG00000106077		"""Abhydrolase domain containing"""	16407	protein-coding gene	gene with protein product			"""Williams Beuren syndrome chromosome region 21"""	WBSCR21		12073013	Standard	NR_026910		Approved	PP1226	uc003tzb.3	Q8NFV4	OTTHUMG00000130029	ENST00000222800.3:c.846C>T	7.37:g.73150991G>A						RFC2_uc011kfa.1_Intron|ABHD11_uc011kfb.1_Silent_p.L225L|ABHD11_uc003tzc.2_Silent_p.L275L|ABHD11_uc003tza.2_Silent_p.L169L	p.L282L	NM_148912	NP_683710	Q8NFV4	ABHDB_HUMAN			6	903	-		Lung NSC(55;0.0908)|all_lung(88;0.198)	282					H7BYM8|Q6PJU0|Q8N722|Q8N723|Q8NFV2|Q8NFV3|Q9HBS8	Silent	SNP	ENST00000222800.3	37	c.846C>T	CCDS5558.1																																																																																				0.607	ABHD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252306.1			19	103	0	0	0	0.001882	0	19	103				
GTF2I	2969	broad.mit.edu	37	7	74114631	74114631	+	Missense_Mutation	SNP	G	G	A	rs145729076	byFrequency	TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr7:74114631G>A	ENST00000324896.4	+	5	817	c.428G>A	c.(427-429)cGa>cAa	p.R143Q	GTF2I_ENST00000443166.1_Missense_Mutation_p.R143Q|AC083884.8_ENST00000434256.1_RNA|GTF2I_ENST00000353920.4_Missense_Mutation_p.R143Q|AC083884.8_ENST00000594967.1_RNA|GTF2I_ENST00000346152.4_Missense_Mutation_p.R143Q|AC083884.8_ENST00000450426.2_RNA|GTF2I_ENST00000416070.1_Missense_Mutation_p.R143Q	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	143					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R143Q(2)		NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AAGATGCTGCGAGACCAGTCG	0.478																																							uc003uau.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(427-429)CGA>CAA		general transcription factor IIi isoform 1		G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	115.0	112.0	113.0		428,428,428,428,428	4.4	0.1	7	dbSNP_134	113	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	GTF2I	NM_001163636.1,NM_001518.3,NM_032999.2,NM_033000.2,NM_033001.2	43,43,43,43,43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	143/977,143/958,143/999,143/979,143/978	74114631	1,13005	2203	4300	6503	SO:0001583	missense	2969				negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr7:74114631G>A	U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"""General transcription factors"""	4659	protein-coding gene	gene with protein product		601679	"""general transcription factor II, i"""	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.428G>A	7.37:g.74114631G>A	ENSP00000322542:p.Arg143Gln					GTF2I_uc003uat.2_Missense_Mutation_p.R143Q|GTF2I_uc003uav.2_Missense_Mutation_p.R143Q|GTF2I_uc003uaw.2_Missense_Mutation_p.R143Q|GTF2I_uc003uay.2_Missense_Mutation_p.R143Q|GTF2I_uc003uax.2_Missense_Mutation_p.R143Q|uc003uaz.2_RNA	p.R143Q	NM_032999	NP_127492	P78347	GTF2I_HUMAN			5	798	+			143			GTF2I-like 1.		O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	ENST00000324896.4	37	c.428G>A	CCDS5573.1	.	.	.	.	.	.	.	.	.	.	G	14.91	2.676840	0.47886	2.27E-4	0.0	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070;ENST00000443166	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	5.31	4.43	0.53597	.	0.086235	0.46442	D	0.000295	T	0.41880	0.1178	N	0.17379	0.485	0.21325	N	0.999728	P;P;D;P;D;B	0.55385	0.946;0.74;0.963;0.934;0.971;0.116	P;B;P;P;P;B	0.58130	0.833;0.245;0.686;0.743;0.833;0.048	T	0.28996	-1.0026	10	0.40728	T	0.16	-10.9867	12.9456	0.58371	0.0783:0.0:0.9216:0.0	.	143;143;143;143;143;143	Q499G6;P78347-2;P78347-3;P78347-4;P78347;Q86U51	.;.;.;.;GTF2I_HUMAN;.	Q	143;138;143;143;143;143	ENSP00000322542:R143Q;ENSP00000322671:R143Q;ENSP00000322599:R143Q;ENSP00000387651:R143Q;ENSP00000404240:R143Q	ENSP00000322542:R143Q	R	+	2	0	GTF2I	73752567	0.983000	0.35010	0.131000	0.22000	0.889000	0.51656	4.112000	0.57845	1.249000	0.43950	0.484000	0.47621	CGA		0.478	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252708.1	NM_032999		15	298	0	0	0	0.006122	0	15	298				
CCDC146	57639	broad.mit.edu	37	7	76889471	76889471	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr7:76889471G>C	ENST00000285871.4	+	8	1031	c.904G>C	c.(904-906)Gaa>Caa	p.E302Q	AC073635.5_ENST00000476561.2_RNA|CCDC146_ENST00000415740.2_3'UTR|CCDC146_ENST00000431197.1_Missense_Mutation_p.E48Q	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	302								p.E302Q(2)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				AGCCTTACTTGAAATCAAAGA	0.348																																							uc003uga.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(904-906)GAA>CAA		coiled-coil domain containing 146							107.0	105.0	105.0					7																	76889471		2203	4300	6503	SO:0001583	missense	57639							g.chr7:76889471G>C	BC029458	CCDS34671.1	7q11.23	2011-09-07			ENSG00000135205	ENSG00000135205			29296	protein-coding gene	gene with protein product						10819331	Standard	NM_020879		Approved	KIAA1505	uc003uga.3	Q8IYE0	OTTHUMG00000162595	ENST00000285871.4:c.904G>C	7.37:g.76889471G>C	ENSP00000285871:p.Glu302Gln					CCDC146_uc010ldp.2_Missense_Mutation_p.E48Q	p.E302Q	NM_020879	NP_065930	Q8IYE0	CC146_HUMAN			8	1031	+		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)	302			Potential.		A8K8X6|Q9P223	Missense_Mutation	SNP	ENST00000285871.4	37	c.904G>C	CCDS34671.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.061943	0.76187	.	.	ENSG00000135205	ENST00000285871;ENST00000431197	T;T	0.27557	1.66;2.25	5.77	4.88	0.63580	.	0.150600	0.64402	D	0.000019	T	0.31295	0.0792	L	0.34521	1.04	0.48901	D	0.999727	P;P	0.48350	0.607;0.909	B;P	0.49421	0.28;0.61	T	0.02751	-1.1115	10	0.15066	T	0.55	-21.7077	15.33	0.74200	0.0:0.0:0.8587:0.1413	.	48;302	Q8IYE0-2;Q8IYE0	.;CC146_HUMAN	Q	302;48	ENSP00000285871:E302Q;ENSP00000413885:E48Q	ENSP00000285871:E302Q	E	+	1	0	AC007000.1	76727407	1.000000	0.71417	0.841000	0.33234	0.998000	0.95712	4.881000	0.63114	1.556000	0.49512	0.650000	0.86243	GAA		0.348	CCDC146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341449.1	NM_020879		30	70	0	0	0	0.003271	0	30	70				
PCLO	27445	broad.mit.edu	37	7	82763878	82763878	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr7:82763878C>T	ENST00000333891.9	-	3	3325	c.2988G>A	c.(2986-2988)gtG>gtA	p.V996V	PCLO_ENST00000423517.2_Silent_p.V996V	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.V996V(4)|p.V942V(2)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTTCCTTTTTCACAGGTATAC	0.468																																							uc003uhx.2		NA																	6	Substitution - coding silent(6)		lung(6)	ovary(7)	7						c.(2986-2988)GTG>GTA		piccolo isoform 1							69.0	66.0	67.0					7																	82763878		1872	4107	5979	SO:0001819	synonymous_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82763878C>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.2988G>A	7.37:g.82763878C>T						PCLO_uc003uhv.2_Silent_p.V996V	p.V996V	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			3	3277	-			942			Pro-rich.			Silent	SNP	ENST00000333891.9	37	c.2988G>A	CCDS47630.1																																																																																				0.468	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		21	52	0	0	0	0.001882	0	21	52				
ASNS	440	broad.mit.edu	37	7	97486051	97486051	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr7:97486051G>A	ENST00000394309.3	-	8	1452	c.981C>T	c.(979-981)gtC>gtT	p.V327V	ASNS_ENST00000175506.4_Silent_p.V327V|ASNS_ENST00000437628.1_Silent_p.V244V|ASNS_ENST00000444334.1_Silent_p.V306V|ASNS_ENST00000422745.1_Silent_p.V306V|ASNS_ENST00000455086.1_Silent_p.V244V|ASNS_ENST00000394308.3_Silent_p.V327V	NM_133436.3	NP_597680.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	327	Asparagine synthetase.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|asparagine biosynthetic process (GO:0006529)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular protein metabolic process (GO:0044267)|cellular response to glucose starvation (GO:0042149)|cellular response to hormone stimulus (GO:0032870)|endoplasmic reticulum unfolded protein response (GO:0030968)|glutamine metabolic process (GO:0006541)|L-asparagine biosynthetic process (GO:0070981)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|positive regulation of mitotic cell cycle (GO:0045931)|response to amino acid (GO:0043200)|response to follicle-stimulating hormone (GO:0032354)|response to light stimulus (GO:0009416)|response to mechanical stimulus (GO:0009612)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)|ATP binding (GO:0005524)|cofactor binding (GO:0048037)	p.V327V(2)		ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	AGGAAAATATGACTTCATCCA	0.318																																					Melanoma(70;6 1280 3108 3799 51123)|GBM(6;275 291 425 9929 27738)	Melanoma(70;6 1280 3108 3799 51123)|GBM(6;275 291 425 9929 27738)	uc003uot.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(979-981)GTC>GTT		asparagine synthetase	Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						85.0	88.0	87.0					7																	97486051		2203	4299	6502	SO:0001819	synonymous_variant	440				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding	g.chr7:97486051G>A	M27396	CCDS5652.1, CCDS55131.1, CCDS55132.1	7q21.3	2012-10-02	2010-05-07		ENSG00000070669	ENSG00000070669	6.3.5.4		753	protein-coding gene	gene with protein product		108370	"""asparagine synthetase"""				Standard	NM_001673		Approved		uc003uov.4	P08243	OTTHUMG00000022892	ENST00000394309.3:c.981C>T	7.37:g.97486051G>A						ASNS_uc011kin.1_Silent_p.V244V|ASNS_uc003uou.3_Silent_p.V327V|ASNS_uc003uov.3_Silent_p.V327V|ASNS_uc011kio.1_Silent_p.V306V|ASNS_uc003uow.3_Silent_p.V306V|ASNS_uc003uox.3_Silent_p.V244V	p.V327V	NM_133436	NP_597680	P08243	ASNS_HUMAN			8	1487	-	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)		327			Asparagine synthetase.		A4D1I8|B4DXZ1|B7ZAA9|D6W5R3|E9PCI3|E9PCX6|P08184|Q15666|Q549T9|Q96HD0	Silent	SNP	ENST00000394309.3	37	c.981C>T	CCDS5652.1																																																																																				0.318	ASNS-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333645.1	NM_001673, NM_183356		18	158	0	0	0	0.007413	0	18	158				
TRRAP	8295	broad.mit.edu	37	7	98497313	98497313	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr7:98497313G>A	ENST00000359863.4	+	10	932	c.723G>A	c.(721-723)ctG>ctA	p.L241L	TRRAP_ENST00000446306.3_Silent_p.L241L|TRRAP_ENST00000355540.3_Silent_p.L241L	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	241					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)	p.L241L(4)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TCTACAAACTGAACATCCACA	0.443																																							uc003upp.2		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37						c.(721-723)CTG>CTA		transformation/transcription domain-associated							190.0	158.0	169.0					7																	98497313		2203	4300	6503	SO:0001819	synonymous_variant	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98497313G>A	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.723G>A	7.37:g.98497313G>A						TRRAP_uc011kis.1_Silent_p.L241L|TRRAP_uc003upr.2_5'Flank	p.L241L	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		10	932	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		241					A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP	ENST00000359863.4	37	c.723G>A	CCDS59066.1																																																																																				0.443	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		51	116	0	0	0	0.00361	0	51	116				
STAG3	10734	broad.mit.edu	37	7	99786150	99786150	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr7:99786150G>A	ENST00000426455.1	+	6	915	c.508G>A	c.(508-510)Gag>Aag	p.E170K	STAG3_ENST00000317296.5_Missense_Mutation_p.E170K|STAG3_ENST00000394018.2_Intron	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	170					chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130)	chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802)		p.E170K(2)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCAGTTTAATGAGGTGGAAGA	0.413																																							uc003utx.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)|lung(1)|kidney(1)	8						c.(508-510)GAG>AAG		stromal antigen 3							180.0	174.0	176.0					7																	99786150		2203	4300	6503	SO:0001583	missense	10734				chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding	g.chr7:99786150G>A	AJ007798	CCDS34703.1, CCDS64730.1, CCDS75642.1	7q22	2008-02-01			ENSG00000066923	ENSG00000066923			11356	protein-coding gene	gene with protein product		608489				10698974	Standard	XM_005250116		Approved		uc003utx.1	Q9UJ98	OTTHUMG00000155183	ENST00000426455.1:c.508G>A	7.37:g.99786150G>A	ENSP00000400359:p.Glu170Lys					STAG3_uc010lgs.1_5'UTR|STAG3_uc011kjk.1_Intron	p.E170K	NM_012447	NP_036579	Q9UJ98	STAG3_HUMAN			6	663	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		170					A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3	Missense_Mutation	SNP	ENST00000426455.1	37	c.508G>A	CCDS34703.1	.	.	.	.	.	.	.	.	.	.	.	36	5.800420	0.96960	.	.	ENSG00000066923	ENST00000426455;ENST00000339784;ENST00000317296	T;T	0.48522	0.81;0.81	5.47	5.47	0.80525	STAG (1);	0.000000	0.49305	D	0.000156	T	0.54303	0.1850	L	0.60012	1.86	0.80722	D	1	P	0.38048	0.616	P	0.44422	0.449	T	0.57294	-0.7836	10	0.62326	D	0.03	-22.8854	16.8382	0.85961	0.0:0.0:1.0:0.0	.	170	Q9UJ98	STAG3_HUMAN	K	170	ENSP00000400359:E170K;ENSP00000319318:E170K	ENSP00000319318:E170K	E	+	1	0	STAG3	99624086	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.636000	0.98440	2.542000	0.85734	0.650000	0.86243	GAG		0.413	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338734.2	NM_012447		74	409	0	0	0	0.00361	0	74	409				
SLC26A3	1811	broad.mit.edu	37	7	107416977	107416977	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr7:107416977C>T	ENST00000340010.5	-	15	1781	c.1597G>A	c.(1597-1599)Gaa>Aaa	p.E533K	SLC26A3_ENST00000422236.2_Missense_Mutation_p.E498K	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	533	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)	p.E533K(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						TTCACTCCTTCTGGCTCATAC	0.378																																							uc003ver.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(1597-1599)GAA>AAA		solute carrier family 26, member 3							115.0	108.0	111.0					7																	107416977		2203	4300	6503	SO:0001583	missense	1811				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr7:107416977C>T	L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"""Solute carriers"""	3018	protein-coding gene	gene with protein product		126650	"""congenital chloride diarrhea"", ""solute carrier family 26, member 3"""	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.1597G>A	7.37:g.107416977C>T	ENSP00000345873:p.Glu533Lys					SLC26A3_uc003ves.2_Missense_Mutation_p.E498K	p.E533K	NM_000111	NP_000102	P40879	S26A3_HUMAN			15	1808	-			533			STAS.			Missense_Mutation	SNP	ENST00000340010.5	37	c.1597G>A	CCDS5748.1	.	.	.	.	.	.	.	.	.	.	C	5.898	0.349708	0.11182	.	.	ENSG00000091138	ENST00000422236;ENST00000340010	D;D	0.94138	-3.36;-3.36	5.82	4.93	0.64822	Sulphate transporter/antisigma-factor antagonist STAS (4);	0.397106	0.29948	N	0.010784	D	0.90017	0.6883	L	0.42245	1.32	0.47123	D	0.999321	B;B	0.12630	0.005;0.006	B;B	0.15052	0.005;0.012	D	0.84470	0.0599	10	0.40728	T	0.16	.	13.2746	0.60180	0.0:0.8209:0.1142:0.0649	.	498;533	G5E9U3;P40879	.;S26A3_HUMAN	K	498;533	ENSP00000415817:E498K;ENSP00000345873:E533K	ENSP00000345873:E533K	E	-	1	0	SLC26A3	107204213	0.993000	0.37304	0.710000	0.30468	0.048000	0.14542	2.976000	0.49289	0.827000	0.34685	-1.094000	0.02160	GAA		0.378	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337190.1	NM_000111		11	124	0	0	0	0.000978	0	11	124				
PTPRZ1	5803	broad.mit.edu	37	7	121680889	121680889	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr7:121680889C>G	ENST00000393386.2	+	21	6068	c.5657C>G	c.(5656-5658)cCc>cGc	p.P1886R	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.P1019R	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1886	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.P1886R(2)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						AAAGGAAGACCCAGTGGACGT	0.512																																							uc003vjy.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						c.(5656-5658)CCC>CGC		protein tyrosine phosphatase, receptor-type,							64.0	60.0	61.0					7																	121680889		2203	4300	6503	SO:0001583	missense	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121680889C>G	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.5657C>G	7.37:g.121680889C>G	ENSP00000377047:p.Pro1886Arg					PTPRZ1_uc003vjz.2_Missense_Mutation_p.P1019R|PTPRZ1_uc011knt.1_Missense_Mutation_p.P476R	p.P1886R	NM_002851	NP_002842	P23471	PTPRZ_HUMAN			21	6052	+			1886			Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.		A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	c.5657C>G	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	C	12.72	2.022829	0.35701	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.14022	2.54;2.54	5.87	5.87	0.94306	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.596788	0.16749	N	0.201086	T	0.07773	0.0195	N	0.02120	-0.675	0.20873	N	0.999833	B;B;B	0.32526	0.374;0.006;0.024	B;B;B	0.36186	0.219;0.03;0.053	T	0.37663	-0.9696	10	0.54805	T	0.06	.	14.9735	0.71251	0.1427:0.8573:0.0:0.0	.	1025;1019;1886	P23471-2;C9JFM0;P23471	.;.;PTPRZ_HUMAN	R	1886;1019	ENSP00000377047:P1886R;ENSP00000410000:P1019R	ENSP00000377047:P1886R	P	+	2	0	PTPRZ1	121468125	0.017000	0.18338	0.999000	0.59377	0.925000	0.55904	1.692000	0.37731	2.776000	0.95493	0.585000	0.79938	CCC		0.512	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		20	125	0	0	0	0.010504	0	20	125				
POT1	25913	broad.mit.edu	37	7	124503575	124503575	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr7:124503575G>A	ENST00000357628.3	-	8	973	c.375C>T	c.(373-375)ttC>ttT	p.F125F	POT1_ENST00000393329.1_5'UTR	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	125					DNA duplex unwinding (GO:0032508)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of DNA strand elongation (GO:0060383)|positive regulation of helicase activity (GO:0051096)|positive regulation of telomerase activity (GO:0051973)|positive regulation of telomere maintenance via telomerase (GO:0032212)|telomere capping (GO:0016233)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|single-stranded telomeric DNA binding (GO:0043047)|telomerase inhibitor activity (GO:0010521)	p.F125F(4)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						CCTCAGTAGTGAAGTTAAAAT	0.443																																					Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642)	Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642)	uc003vlm.2		NA																	4	Substitution - coding silent(4)		lung(4)	central_nervous_system(1)	1						c.(373-375)TTC>TTT		protection of telomeres 1 isoform 1							151.0	140.0	144.0					7																	124503575		2203	4299	6502	SO:0001819	synonymous_variant	25913				DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity	g.chr7:124503575G>A	AK022580	CCDS5793.1	7q31.33	2013-01-21	2013-01-21		ENSG00000128513	ENSG00000128513			17284	protein-coding gene	gene with protein product		606478	"""protection of telomeres 1 homolog (S. pombe)"""			11349150, 12391173	Standard	NR_003102		Approved	hPot1, DKFZp586D211	uc003vlm.3	Q9NUX5	OTTHUMG00000157194	ENST00000357628.3:c.375C>T	7.37:g.124503575G>A						POT1_uc011koe.1_RNA|POT1_uc003vlk.2_RNA|POT1_uc003vll.2_RNA|POT1_uc003vlo.2_5'UTR|POT1_uc003vln.2_RNA	p.F125F	NM_015450	NP_056265	Q9NUX5	POTE1_HUMAN			8	976	-			125					O95018|Q5MJ36|Q9H662|Q9NW19|Q9UG95	Silent	SNP	ENST00000357628.3	37	c.375C>T	CCDS5793.1																																																																																				0.443	POT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347861.1			77	180	0	0	0	0.00361	0	77	180				
BRAF	673	broad.mit.edu	37	7	140453193	140453193	+	Splice_Site	SNP	T	T	C	rs121913370		TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr7:140453193T>C	ENST00000288602.6	-	15	1802	c.1742A>G	c.(1741-1743)aAt>aGt	p.N581S		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	581	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		N -> D (in CFC1). {ECO:0000269|PubMed:16439621, ECO:0000269|PubMed:16474404, ECO:0000269|PubMed:18042262}.|N -> S (in a colorectal adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.N581S(9)|p.N581I(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	AAGAAATATATCTGAGGTGTA	0.358		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	Colon(40;35 892 2973 5743 27438)	uc003vwc.3		61		Dom	yes		7	7q34	673	Mis|T|O	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	AKAP9|KIAA1549		melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma	KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2)	10	Substitution - Missense(10)	p.N581S(7)|p.N581Y(1)|p.N581I(1)	large_intestine(3)|lung(3)|skin(2)|ovary(1)|soft_tissue(1)	thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1)	18290						c.(1741-1743)AAT>AGT		B-Raf	Sorafenib(DB00398)						86.0	83.0	84.0					7																	140453193		2203	4298	6501	SO:0001630	splice_region_variant	673	Cardiofaciocutaneous_syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453193T>C	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1742-1A>G	7.37:g.140453193T>C							p.N581S	NM_004333	NP_004324	P15056	BRAF_HUMAN			15	1803	-	Melanoma(164;0.00956)		581		N -> D (in CFC syndrome).|N -> S (in a colorectal adenocarcinoma sample; somatic mutation).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1742A>G	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.68|17.68	3.450518|3.450518	0.63290|0.63290	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000496384|ENST00000288602	.|D	.|0.99803	.|-6.82	5.65|5.65	5.65|5.65	0.86999|0.86999	.|Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99864|0.99864	0.9936|0.9936	H|H	0.96970|0.96970	3.915|3.915	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.87578	.|0.998	D|D	0.96655|0.96655	0.9484|0.9484	5|10	.|0.59425	.|D	.|0.04	.|.	15.9326|15.9326	0.79675|0.79675	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|581	.|P15056	.|BRAF_HUMAN	V|S	189|581	.|ENSP00000288602:N581S	.|ENSP00000288602:N581S	I|N	-|-	1|2	0|0	BRAF|BRAF	140099662|140099662	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.921000|7.921000	0.87530|0.87530	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	ATA|AAT		0.358	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333	Missense_Mutation	44	77	0	0	0	0.00361	0	44	77				
CSMD1	64478	broad.mit.edu	37	8	2876054	2876054	+	Silent	SNP	A	A	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr8:2876054A>G	ENST00000520002.1	-	53	8532	c.7977T>C	c.(7975-7977)caT>caC	p.H2659H	CSMD1_ENST00000602557.1_Silent_p.H2659H|CSMD1_ENST00000537824.1_Silent_p.H2658H|CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000400186.3_Intron			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2659	Sushi 17. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.H2387H(2)|p.H2658H(2)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACTCTCTGACATGAGACCCCA	0.483																																							uc011kwk.1		NA																	4	Substitution - coding silent(4)		lung(4)	breast(20)|large_intestine(5)	25						c.(7975-7977)CAT>CAC		CUB and Sushi multiple domains 1 precursor							199.0	196.0	197.0					8																	2876054		1985	4161	6146	SO:0001819	synonymous_variant	64478					integral to membrane		g.chr8:2876054A>G			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.7977T>C	8.37:g.2876054A>G						CSMD1_uc011kwj.1_Silent_p.H1988H|CSMD1_uc010lrg.2_Intron	p.H2659H	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	52	8367	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	2659			Extracellular (Potential).|Sushi 17.		Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37	c.7977T>C		.	.	.	.	.	.	.	.	.	.	A	0.487	-0.877020	0.02550	.	.	ENSG00000183117	ENST00000335551	.	.	.	5.19	-6.34	0.01982	.	.	.	.	.	T	0.63295	0.2499	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65755	-0.6091	4	.	.	.	.	15.8996	0.79362	0.7086:0.0:0.2914:0.0	.	.	.	.	R	2076	.	.	C	-	1	0	CSMD1	2863461	0.000000	0.05858	0.289000	0.24876	0.058000	0.15608	-2.516000	0.00954	-1.342000	0.02222	-0.417000	0.06048	TGT		0.483	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		40	264	0	0	0	0.007835	0	40	264				
PSD3	23362	broad.mit.edu	37	8	18430067	18430067	+	Silent	SNP	G	G	A	rs377209838		TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr8:18430067G>A	ENST00000327040.8	-	14	2857	c.2755C>T	c.(2755-2757)Ctg>Ttg	p.L919L	PSD3_ENST00000286485.8_Silent_p.L385L|PSD3_ENST00000523619.1_Silent_p.L854L|PSD3_ENST00000428502.2_Silent_p.L248L|PSD3_ENST00000440756.2_Silent_p.L921L	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	920					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.L921L(2)|p.L385L(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		GTGGCAGGCAGAAGTGGGCGG	0.408																																							uc003wza.2		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(3)	3						c.(2755-2757)CTG>TTG		ADP-ribosylation factor guanine nucleotide							119.0	128.0	125.0					8																	18430067		2203	4300	6503	SO:0001819	synonymous_variant	23362				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	g.chr8:18430067G>A	AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"""Pleckstrin homology (PH) domain containing"""	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.2755C>T	8.37:g.18430067G>A						PSD3_uc003wyx.3_Silent_p.L248L|PSD3_uc003wyy.2_Silent_p.L385L|PSD3_uc003wyz.2_Silent_p.L220L	p.L919L	NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN		Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)	14	2858	-			920					A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Silent	SNP	ENST00000327040.8	37	c.2755C>T	CCDS43720.1																																																																																				0.408	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1	NM_015310		21	87	0	0	0	0.00333	0	21	87				
PPP2R2A	5520	broad.mit.edu	37	8	26223870	26223870	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr8:26223870G>A	ENST00000380737.3	+	9	1341	c.1012G>A	c.(1012-1014)Gaa>Aaa	p.E338K	PPP2R2A_ENST00000315985.7_Missense_Mutation_p.E348K	NM_002717.3	NP_002708.1	P63151	2ABA_HUMAN	protein phosphatase 2, regulatory subunit B, alpha	338					G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|response to morphine (GO:0043278)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)	p.E338K(2)		kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		TTCACTGTATGAAAATGACTG	0.308																																							uc003xeu.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|kidney(1)	2						c.(1012-1014)GAA>AAA		alpha isoform of regulatory subunit B55, protein							136.0	136.0	136.0					8																	26223870		2203	4299	6502	SO:0001583	missense	5520				protein dephosphorylation|signal transduction	protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity	g.chr8:26223870G>A	M64929	CCDS34867.1, CCDS55213.1	8p21.2	2013-01-10	2010-04-14		ENSG00000221914	ENSG00000221914	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9304	protein-coding gene	gene with protein product	"""PP2A subunit B isoform alpha"""	604941	"""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, alpha isoform"""			1849734	Standard	NM_001177591		Approved	PR52A, PR55A, B55A		P63151	OTTHUMG00000163850	ENST00000380737.3:c.1012G>A	8.37:g.26223870G>A	ENSP00000370113:p.Glu338Lys					PPP2R2A_uc003xek.2_Missense_Mutation_p.E339K|PPP2R2A_uc011laf.1_Missense_Mutation_p.E348K	p.E338K	NM_002717	NP_002708	P63151	2ABA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)	9	1314	+		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)	338			WD 6.		B2RBU8|B4E1T7|P50409|Q00007	Missense_Mutation	SNP	ENST00000380737.3	37	c.1012G>A	CCDS34867.1	.	.	.	.	.	.	.	.	.	.	G	36	5.886955	0.97068	.	.	ENSG00000221914	ENST00000380737;ENST00000524169;ENST00000315985	T;T;T	0.71698	1.25;-0.59;1.24	5.96	5.96	0.96718	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	U	0.000000	D	0.88676	0.6501	H	0.94503	3.545	0.80722	D	1	D;D;P	0.69078	0.963;0.997;0.913	D;D;P	0.64321	0.924;0.924;0.89	D	0.90816	0.4705	10	0.87932	D	0	-18.0392	20.422	0.99049	0.0:0.0:1.0:0.0	.	348;338;339	B4E1T7;P63151;Q6ZP32	.;2ABA_HUMAN;.	K	338;117;348	ENSP00000370113:E338K;ENSP00000430320:E117K;ENSP00000325074:E348K	ENSP00000325074:E348K	E	+	1	0	PPP2R2A	26279787	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.832000	0.97577	0.655000	0.94253	GAA		0.308	PPP2R2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375954.2	NM_002717		29	151	0	0	0	0.002445	0	29	151				
LYN	4067	broad.mit.edu	37	8	56866476	56866476	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr8:56866476G>C	ENST00000519728.1	+	8	1019	c.723G>C	c.(721-723)gaG>gaC	p.E241D	LYN_ENST00000520220.2_Missense_Mutation_p.E220D	NM_002350.3	NP_002341.1	P07948	LYN_HUMAN	LYN proto-oncogene, Src family tyrosine kinase	241					B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to heat (GO:0034605)|cellular response to retinoic acid (GO:0071300)|cytokine secretion (GO:0050663)|dendritic cell differentiation (GO:0097028)|erythrocyte differentiation (GO:0030218)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|Fc receptor mediated stimulatory signaling pathway (GO:0002431)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|histamine secretion by mast cell (GO:0002553)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of immune response (GO:0050777)|negative regulation of intracellular signal transduction (GO:1902532)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell proliferation (GO:0070667)|negative regulation of myeloid leukocyte differentiation (GO:0002762)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|neuron projection development (GO:0031175)|oligodendrocyte development (GO:0014003)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oligodendrocyte progenitor proliferation (GO:0070447)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of stress-activated protein kinase signaling cascade (GO:0070304)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cytokine production (GO:0001817)|regulation of cytokine secretion (GO:0050707)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of erythrocyte differentiation (GO:0045646)|regulation of inflammatory response (GO:0050727)|regulation of mast cell activation (GO:0033003)|regulation of mast cell degranulation (GO:0043304)|regulation of monocyte chemotaxis (GO:0090025)|regulation of platelet aggregation (GO:0090330)|regulation of protein phosphorylation (GO:0001932)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to carbohydrate (GO:0009743)|response to drug (GO:0042493)|response to hormone (GO:0009725)|response to insulin (GO:0032868)|response to organic cyclic compound (GO:0014070)|response to sterol depletion (GO:0006991)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|T cell costimulation (GO:0031295)|tolerance induction to self antigen (GO:0002513)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integrin alpha2-beta1 complex (GO:0034666)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycosphingolipid binding (GO:0043208)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)	p.E241D(2)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)		Bosutinib(DB06616)|Ponatinib(DB08901)	ATGCCTGGGAGATCCCCCGGG	0.527																																							uc003xsk.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)|central_nervous_system(1)	3						c.(721-723)GAG>GAC		Yamaguchi sarcoma viral (v-yes-1) oncogene							90.0	92.0	91.0					8																	56866476		2203	4300	6503	SO:0001583	missense	4067				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity	g.chr8:56866476G>C	M16038	CCDS6162.1, CCDS47859.1	8q13	2014-06-25	2014-06-25		ENSG00000254087	ENSG00000254087		"""SH2 domain containing"""	6735	protein-coding gene	gene with protein product		165120	"""v-yes-1 Yamaguchi sarcoma viral related oncogene homolog"""			3561390	Standard	NM_002350		Approved	JTK8	uc003xsk.4	P07948	OTTHUMG00000044345	ENST00000519728.1:c.723G>C	8.37:g.56866476G>C	ENSP00000428924:p.Glu241Asp					LYN_uc003xsl.3_Missense_Mutation_p.E220D	p.E241D	NM_002350	NP_002341	P07948	LYN_HUMAN	Epithelial(17;0.000834)|all cancers(17;0.00598)		8	1005	+		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	241					A0AVQ5	Missense_Mutation	SNP	ENST00000519728.1	37	c.723G>C	CCDS6162.1	.	.	.	.	.	.	.	.	.	.	G	18.40	3.616439	0.66672	.	.	ENSG00000254087	ENST00000519728;ENST00000520220	T;T	0.27256	1.68;1.68	5.08	1.21	0.21127	Protein kinase-like domain (1);SH2 motif (1);	0.000000	0.85682	D	0.000000	T	0.46964	0.1420	M	0.92970	3.365	0.52099	D	0.999946	P;P	0.48503	0.911;0.756	P;P	0.53518	0.728;0.567	T	0.51116	-0.8746	10	0.66056	D	0.02	.	8.1211	0.30971	0.5345:0.0:0.4654:0.0	.	311;241	Q6NUK7;P07948	.;LYN_HUMAN	D	241;220	ENSP00000428924:E241D;ENSP00000428424:E220D	ENSP00000428924:E241D	E	+	3	2	LYN	57029030	0.987000	0.35691	0.998000	0.56505	0.997000	0.91878	0.325000	0.19628	0.272000	0.22027	0.650000	0.86243	GAG		0.527	LYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378155.1	NM_002350		14	136	0	0	0	0.00245	0	14	136				
SLCO5A1	81796	broad.mit.edu	37	8	70617351	70617351	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr8:70617351C>A	ENST00000260126.4	-	6	2243	c.1537G>T	c.(1537-1539)Gtg>Ttg	p.V513L	SLCO5A1_ENST00000524945.1_Missense_Mutation_p.V513L|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.V458L	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	513						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.V513L(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			AGTAAAGACACACCACTGCAG	0.398																																							uc003xyl.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|upper_aerodigestive_tract(1)	4						c.(1537-1539)GTG>TTG		solute carrier organic anion transporter family,							122.0	116.0	118.0					8																	70617351		2203	4300	6503	SO:0001583	missense	81796					integral to membrane|plasma membrane	transporter activity	g.chr8:70617351C>A	AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"""Solute carriers"""	19046	protein-coding gene	gene with protein product		613543	"""solute carrier family 21 (organic anion transporter), member 15"""	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.1537G>T	8.37:g.70617351C>A	ENSP00000260126:p.Val513Leu					SLCO5A1_uc010lzb.2_Missense_Mutation_p.V458L|SLCO5A1_uc011lfa.1_Intron|SLCO5A1_uc003xyk.2_Missense_Mutation_p.V513L|SLCO5A1_uc010lzc.2_Missense_Mutation_p.V458L	p.V513L	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		6	2244	-	Breast(64;0.0654)		513			Helical; Name=9; (Potential).		A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Missense_Mutation	SNP	ENST00000260126.4	37	c.1537G>T	CCDS6205.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.411267	0.83340	.	.	ENSG00000137571	ENST00000260126;ENST00000524945;ENST00000530307	T;T;T	0.57907	0.37;0.37;0.37	5.55	5.55	0.83447	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.49609	0.1567	N	0.04669	-0.19	0.58432	D	0.999999	D;P;B;P	0.63880	0.993;0.509;0.305;0.645	D;P;B;P	0.66084	0.941;0.507;0.216;0.45	T	0.48854	-0.8998	10	0.11794	T	0.64	.	19.8764	0.96873	0.0:1.0:0.0:0.0	.	458;458;513;513	B4DR09;E9PKK5;Q9H2Y9;G3V1C0	.;.;SO5A1_HUMAN;.	L	513;513;458	ENSP00000260126:V513L;ENSP00000434422:V513L;ENSP00000431611:V458L	ENSP00000260126:V513L	V	-	1	0	SLCO5A1	70779905	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.776000	0.85560	2.768000	0.95171	0.655000	0.94253	GTG		0.398	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958		19	146	1	0	7.07596e-05	0.006122	7.54769e-05	19	146				
ZFHX4	79776	broad.mit.edu	37	8	77617486	77617486	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr8:77617486C>G	ENST00000521891.2	+	2	1611	c.1163C>G	c.(1162-1164)aCc>aGc	p.T388S	ZFHX4_ENST00000455469.2_Missense_Mutation_p.T388S|ZFHX4_ENST00000050961.6_Missense_Mutation_p.T388S|ZFHX4_ENST00000518282.1_Missense_Mutation_p.T388S|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	388					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.T388S(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGCGCGAGCACCTCGAGCTCA	0.532										HNSCC(33;0.089)																													uc003yav.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(1162-1164)ACC>AGC		zinc finger homeodomain 4							45.0	43.0	44.0					8																	77617486		1866	4103	5969	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77617486C>G		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.1163C>G	8.37:g.77617486C>G	ENSP00000430497:p.Thr388Ser	HNSCC(33;0.089)				ZFHX4_uc003yat.1_Missense_Mutation_p.T388S|ZFHX4_uc003yau.1_Missense_Mutation_p.T388S|ZFHX4_uc003yaw.1_Missense_Mutation_p.T388S	p.T388S	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		2	1550	+			388					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.1163C>G	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	4.734	0.136578	0.09032	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.44083	0.93;0.98;0.95;0.94	5.53	5.53	0.82687	.	0.308295	0.22822	U	0.055205	T	0.22475	0.0542	N	0.03608	-0.345	0.21627	N	0.999617	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.001;0.001;0.001	T	0.03473	-1.1033	10	0.08179	T	0.78	.	19.6556	0.95837	0.0:1.0:0.0:0.0	.	388;388;388;388	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	S	388	ENSP00000430497:T388S;ENSP00000399605:T388S;ENSP00000050961:T388S;ENSP00000430848:T388S	ENSP00000050961:T388S	T	+	2	0	ZFHX4	77780041	0.992000	0.36948	0.012000	0.15200	0.872000	0.50106	5.110000	0.64622	2.882000	0.98803	0.655000	0.94253	ACC		0.532	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		6	53	0	0	0	0.004482	0	6	53				
DPY19L4	286148	broad.mit.edu	37	8	95738658	95738658	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr8:95738658G>A	ENST00000414645.2	+	2	215	c.116G>A	c.(115-117)aGa>aAa	p.R39K		NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN	dpy-19-like 4 (C. elegans)	39						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)	p.R39K(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					ATTCCTGAAAGAGCTCCAAAA	0.333																																							uc003ygx.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(115-117)AGA>AAA		dpy-19-like 4							57.0	60.0	59.0					8																	95738658		2203	4300	6503	SO:0001583	missense	286148					integral to membrane		g.chr8:95738658G>A		CCDS34924.1	8q22.1	2006-11-24			ENSG00000156162	ENSG00000156162			27829	protein-coding gene	gene with protein product		613895					Standard	NM_181787		Approved		uc003ygx.2	Q7Z388	OTTHUMG00000164589	ENST00000414645.2:c.116G>A	8.37:g.95738658G>A	ENSP00000389630:p.Arg39Lys						p.R39K	NM_181787	NP_861452	Q7Z388	D19L4_HUMAN			2	240	+	Breast(36;3.85e-06)		39					Q6ZW32|Q6ZW42|Q7Z329	Missense_Mutation	SNP	ENST00000414645.2	37	c.116G>A	CCDS34924.1	.	.	.	.	.	.	.	.	.	.	G	11.16	1.556543	0.27827	.	.	ENSG00000156162	ENST00000522422;ENST00000414645;ENST00000519353;ENST00000519176	T;T	0.62498	0.02;0.97	5.35	3.54	0.40534	.	0.228496	0.41194	N	0.000925	T	0.42268	0.1195	L	0.27053	0.805	0.35601	D	0.807849	B	0.06786	0.001	B	0.10450	0.005	T	0.41016	-0.9532	10	0.02654	T	1	-12.0115	11.2217	0.48860	0.1504:0.0:0.8496:0.0	.	39	Q7Z388	D19L4_HUMAN	K	39;39;12;10	ENSP00000389630:R39K;ENSP00000430417:R10K	ENSP00000389630:R39K	R	+	2	0	DPY19L4	95807834	1.000000	0.71417	1.000000	0.80357	0.590000	0.36582	2.441000	0.44864	1.394000	0.46624	0.655000	0.94253	AGA		0.333	DPY19L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379339.1	NM_181787		8	61	0	0	0	0.00308	0	8	61				
ZFPM2	23414	broad.mit.edu	37	8	106813279	106813279	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr8:106813279G>A	ENST00000407775.2	+	8	1219	c.969G>A	c.(967-969)gtG>gtA	p.V323V	ZFPM2_ENST00000378472.4_Silent_p.V54V|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000520492.1_Silent_p.V191V|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000517361.1_Silent_p.V191V	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	323					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.V323V(2)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CTCTAGGAGTGAAAATGGAAG	0.418																																							uc003ymd.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(4)|large_intestine(1)	5						c.(967-969)GTG>GTA		zinc finger protein, multitype 2							137.0	131.0	133.0					8																	106813279		1917	4140	6057	SO:0001819	synonymous_variant	23414				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	g.chr8:106813279G>A	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.969G>A	8.37:g.106813279G>A						ZFPM2_uc011lhs.1_Silent_p.V54V|uc003yme.1_5'Flank	p.V323V	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		8	992	+			323					Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Silent	SNP	ENST00000407775.2	37	c.969G>A	CCDS47908.1																																																																																				0.418	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			50	195	0	0	0	0.00361	0	50	195				
PKHD1L1	93035	broad.mit.edu	37	8	110476724	110476724	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr8:110476724G>A	ENST00000378402.5	+	49	7767	c.7663G>A	c.(7663-7665)Gat>Aat	p.D2555N		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2555					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.D2557N(2)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCTTCTGAATGATGATGTGAC	0.443										HNSCC(38;0.096)																													uc003yne.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(7663-7665)GAT>AAT		fibrocystin L precursor							105.0	103.0	104.0					8																	110476724		1986	4154	6140	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110476724G>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.7663G>A	8.37:g.110476724G>A	ENSP00000367655:p.Asp2555Asn	HNSCC(38;0.096)					p.D2555N	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		49	7767	+			2555			Extracellular (Potential).		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.7663G>A	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.686544	0.88639	.	.	ENSG00000205038	ENST00000378402	D	0.87729	-2.29	5.55	5.55	0.83447	Pectin lyase fold/virulence factor (1);	0.000000	0.85682	D	0.000000	D	0.91862	0.7424	M	0.90759	3.145	0.44595	D	0.99756	P	0.41546	0.754	P	0.49047	0.599	D	0.90146	0.4217	10	0.15952	T	0.53	.	16.9905	0.86352	0.0:0.0:1.0:0.0	.	2555	Q86WI1	PKHL1_HUMAN	N	2555	ENSP00000367655:D2555N	ENSP00000367655:D2555N	D	+	1	0	PKHD1L1	110545900	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.378000	0.90144	2.610000	0.88304	0.655000	0.94253	GAT		0.443	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		14	79	0	0	0	0.001855	0	14	79				
CSMD3	114788	broad.mit.edu	37	8	113246694	113246694	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr8:113246694C>A	ENST00000297405.5	-	68	10884	c.10640G>T	c.(10639-10641)aGc>aTc	p.S3547I	CSMD3_ENST00000343508.3_Missense_Mutation_p.S3507I|CSMD3_ENST00000352409.3_Missense_Mutation_p.S3477I|CSMD3_ENST00000455883.2_Missense_Mutation_p.S3378I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3547						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S3547I(2)|p.S3507I(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGCTTCCTGGCTTTTATATAC	0.323										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																													uc003ynu.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(10639-10641)AGC>ATC		CUB and Sushi multiple domains 3 isoform 1							139.0	137.0	138.0					8																	113246694		2203	4299	6502	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113246694C>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10640G>T	8.37:g.113246694C>A	ENSP00000297405:p.Ser3547Ile	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.S2749I|CSMD3_uc003ynt.2_Missense_Mutation_p.S3507I|CSMD3_uc011lhx.1_Missense_Mutation_p.S3378I	p.S3547I	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			68	10799	-			3547			Extracellular (Potential).		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.10640G>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	18.48	3.633190	0.67015	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.25579	2.09;2.09;2.12;1.79;2.11	5.03	5.03	0.67393	.	0.216741	0.39210	N	0.001437	T	0.30603	0.0770	L	0.47716	1.5	0.52501	D	0.999951	P;P;P	0.38767	0.646;0.514;0.616	B;B;B	0.40901	0.229;0.106;0.343	T	0.10042	-1.0647	10	0.72032	D	0.01	.	18.5459	0.91045	0.0:1.0:0.0:0.0	.	3378;3547;3507	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	I	3507;3547;2817;3378;3477	ENSP00000345799:S3507I;ENSP00000297405:S3547I;ENSP00000341558:S2817I;ENSP00000412263:S3378I;ENSP00000343124:S3477I	ENSP00000297405:S3547I	S	-	2	0	CSMD3	113315870	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.396000	0.59684	2.621000	0.88768	0.561000	0.74099	AGC		0.323	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		17	163	1	0	0.000566183	0.00499	0.000593516	17	163				
MTBP	27085	broad.mit.edu	37	8	121463465	121463465	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr8:121463465G>C	ENST00000305949.1	+	4	373	c.328G>C	c.(328-330)Gaa>Caa	p.E110Q		NM_022045.4	NP_071328.2	Q96DY7	MTBP_HUMAN	MDM2 binding protein	110					cell cycle arrest (GO:0007050)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cell proliferation (GO:0008285)|protein localization to kinetochore (GO:0034501)|traversing start control point of mitotic cell cycle (GO:0007089)	chromatin (GO:0000785)|kinetochore (GO:0000776)		p.E110Q(2)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			AGATAAAATTGAAGATGTTCT	0.308																																							uc003ypc.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)	3						c.(328-330)GAA>CAA		Mdm2, transformed 3T3 cell double minute 2, p53							87.0	89.0	88.0					8																	121463465		2203	4300	6503	SO:0001583	missense	27085				cell cycle arrest			g.chr8:121463465G>C		CCDS6333.1	8q24.1-q24.2	2014-03-03	2014-03-03		ENSG00000172167	ENSG00000172167			7417	protein-coding gene	gene with protein product		605927	"""MDM2 (mouse double minute 2)-binding protein, 104kD"", ""Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa"""			10906133, 11060448	Standard	NM_022045		Approved		uc003ypc.2	Q96DY7	OTTHUMG00000165040	ENST00000305949.1:c.328G>C	8.37:g.121463465G>C	ENSP00000303398:p.Glu110Gln					MTBP_uc003ypb.1_Missense_Mutation_p.E110Q|MTBP_uc011lie.1_RNA	p.E110Q	NM_022045	NP_071328	Q96DY7	MTBP_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		4	373	+	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		110					B4DUR5|Q9HA89	Missense_Mutation	SNP	ENST00000305949.1	37	c.328G>C	CCDS6333.1	.	.	.	.	.	.	.	.	.	.	G	19.59	3.855977	0.71834	.	.	ENSG00000172167	ENST00000305949	.	.	.	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.76076	0.3937	M	0.72894	2.215	0.51233	D	0.999913	D;D	0.89917	0.999;1.0	D;D	0.87578	0.996;0.998	T	0.78331	-0.2245	9	0.72032	D	0.01	-23.6834	11.043	0.47842	0.0862:0.0:0.9138:0.0	.	110;110	Q96DY7;B4DUR5	MTBP_HUMAN;.	Q	110	.	ENSP00000303398:E110Q	E	+	1	0	MTBP	121532646	1.000000	0.71417	0.997000	0.53966	0.981000	0.71138	5.332000	0.65911	2.309000	0.77851	0.643000	0.83706	GAA		0.308	MTBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381530.1	NM_022045		15	48	0	0	0	0.003163	0	15	48				
TBC1D31	93594	broad.mit.edu	37	8	124146378	124146378	+	Missense_Mutation	SNP	G	G	A	rs144947635	byFrequency	TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr8:124146378G>A	ENST00000287380.1	+	17	2521	c.2431G>A	c.(2431-2433)Gct>Act	p.A811T	TBC1D31_ENST00000309336.3_Missense_Mutation_p.A811T|TBC1D31_ENST00000327098.5_Intron|TBC1D31_ENST00000522420.1_Missense_Mutation_p.A706T|TBC1D31_ENST00000518805.1_Missense_Mutation_p.A365T|TBC1D31_ENST00000378080.2_3'UTR|TBC1D31_ENST00000521676.1_Missense_Mutation_p.A688T	NM_145647.3	NP_663622.2	Q96DN5	TBC31_HUMAN	TBC1 domain family, member 31	811						centrosome (GO:0005813)	Rab GTPase activator activity (GO:0005097)	p.A811T(2)									TCGAGAAATTGCTGCCACAGC	0.318																																							uc003ypp.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(2431-2433)GCT>ACT		WD repeat domain 67 isoform 1		G	,THR/ALA	0,4406		0,0,2203	91.0	96.0	94.0		,2431	4.6	1.0	8	dbSNP_134	94	2,8598	2.2+/-6.3	0,2,4298	no	intron,missense	WDR67	NM_001145088.1,NM_145647.3	,58	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,benign	,811/1067	124146378	2,13004	2203	4300	6503	SO:0001583	missense	93594					centrosome	Rab GTPase activator activity	g.chr8:124146378G>A	AK094612	CCDS6338.1, CCDS47916.1	8q24.13	2013-07-10	2013-07-10	2013-07-10	ENSG00000156787	ENSG00000156787		"""WD repeat domain containing"""	30888	protein-coding gene	gene with protein product			"""WD repeat domain 67"""	WDR67		12477932	Standard	NM_001145088		Approved	MGC21654, Gm85	uc003ypp.2	Q96DN5	OTTHUMG00000165081	ENST00000287380.1:c.2431G>A	8.37:g.124146378G>A	ENSP00000287380:p.Ala811Thr					WDR67_uc011lig.1_Intron|WDR67_uc011lih.1_Missense_Mutation_p.A701T|WDR67_uc003ypq.1_RNA|WDR67_uc003yps.1_Missense_Mutation_p.A445T|WDR67_uc003ypt.1_Missense_Mutation_p.A268T|WDR67_uc003ypu.1_Missense_Mutation_p.A268T	p.A811T	NM_145647	NP_663622	Q96DN5	WDR67_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		17	2521	+	Lung NSC(37;7e-10)|Ovarian(258;0.0205)		811			Potential.		B7ZL19|Q2M2J9|Q3MIR6|Q8TBP9	Missense_Mutation	SNP	ENST00000287380.1	37	c.2431G>A	CCDS6338.1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.626442	0.46840	0.0	2.33E-4	ENSG00000156787	ENST00000287380;ENST00000309336;ENST00000522420;ENST00000521676;ENST00000518805	D;T;D;D;T	0.85702	-2.02;-0.28;-2.02;-2.02;0.98	5.49	4.62	0.57501	.	0.183599	0.46145	N	0.000305	T	0.76335	0.3973	L	0.32530	0.975	0.80722	D	1	B;P;B	0.35174	0.2;0.488;0.43	B;B;B	0.31016	0.123;0.055;0.122	T	0.75093	-0.3439	10	0.42905	T	0.14	-8.7362	12.0273	0.53377	0.0804:0.0:0.9196:0.0	.	811;706;811	Q96DN5-2;E7ERK7;Q96DN5	.;.;WDR67_HUMAN	T	811;811;706;688;365	ENSP00000287380:A811T;ENSP00000308358:A811T;ENSP00000429334:A706T;ENSP00000430628:A688T;ENSP00000429494:A365T	ENSP00000287380:A811T	A	+	1	0	WDR67	124215559	1.000000	0.71417	0.989000	0.46669	0.978000	0.69477	4.157000	0.58144	1.324000	0.45282	0.655000	0.94253	GCT		0.318	TBC1D31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381721.1	NM_145647		15	122	0	0	0	0.006122	0	15	122				
GSDMC	56169	broad.mit.edu	37	8	130789733	130789733	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr8:130789733C>T	ENST00000276708.4	-	2	982	c.101G>A	c.(100-102)cGt>cAt	p.R34H		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	34						cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)		p.R34H(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						AACAAACTGACGTAATTTGGT	0.403																																							uc003ysr.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(100-102)CGT>CAT		melanoma-derived leucine zipper, extra-nuclear							170.0	158.0	162.0					8																	130789733		2203	4300	6503	SO:0001583	missense	56169					mitochondrion		g.chr8:130789733C>T	AB042405	CCDS6360.1	8q24.21	2014-05-14	2008-07-31	2008-07-31	ENSG00000147697	ENSG00000147697			7151	protein-coding gene	gene with protein product		608384	"""melanoma-derived leucine zipper, extra-nuclear factor"""	MLZE		17350798	Standard	NM_031415		Approved		uc003ysr.3	Q9BYG8	OTTHUMG00000164851	ENST00000276708.4:c.101G>A	8.37:g.130789733C>T	ENSP00000276708:p.Arg34His						p.R34H	NM_031415	NP_113603	Q9BYG8	GSDMC_HUMAN			2	983	-			34					Q5XKF3|Q6P494	Missense_Mutation	SNP	ENST00000276708.4	37	c.101G>A	CCDS6360.1	.	.	.	.	.	.	.	.	.	.	C	5.354	0.250558	0.10130	.	.	ENSG00000147697	ENST00000276708	T	0.26067	1.76	4.01	-0.265	0.12946	.	0.838261	0.10237	N	0.698925	T	0.17023	0.0409	L	0.33485	1.01	0.09310	N	1	B	0.27140	0.169	B	0.23852	0.049	T	0.23691	-1.0181	10	0.42905	T	0.14	.	6.5764	0.22569	0.0:0.4793:0.0:0.5207	.	34	Q9BYG8	GSDMC_HUMAN	H	34	ENSP00000276708:R34H	ENSP00000276708:R34H	R	-	2	0	GSDMC	130858915	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.821000	0.04452	-0.132000	0.11557	-0.339000	0.08088	CGT		0.403	GSDMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380586.1			27	145	0	0	0	0.005443	0	27	145				
GSDMD	79792	broad.mit.edu	37	8	144642079	144642079	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr8:144642079C>T	ENST00000526406.1	+	6	1233	c.350C>T	c.(349-351)tCa>tTa	p.S117L	GSDMD_ENST00000262580.4_Missense_Mutation_p.S117L|GSDMD_ENST00000533063.1_Missense_Mutation_p.S165L	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN	gasdermin D	117					cellular response to extracellular stimulus (GO:0031668)			p.S117L(1)		breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						TCCAGCACCTCAATGAATGTG	0.637																																							uc010mfe.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(349-351)TCA>TTA		gasdermin D							43.0	45.0	44.0					8																	144642079		2201	4297	6498	SO:0001583	missense	79792							g.chr8:144642079C>T	AK096216	CCDS34956.1	8q24.3	2008-07-31	2008-07-31	2008-07-31		ENSG00000104518			25697	protein-coding gene	gene with protein product			"""gasdermin domain containing 1"""	GSDMDC1		15289881, 17350798	Standard	NM_024736		Approved	FLJ12150, DF5L	uc003yyg.3	P57764		ENST00000526406.1:c.350C>T	8.37:g.144642079C>T	ENSP00000433209:p.Ser117Leu					uc003yye.2_5'Flank|GSDMD_uc003yyf.2_Missense_Mutation_p.S165L|GSDMD_uc003yyi.2_Missense_Mutation_p.S117L|GSDMD_uc003yyg.2_Missense_Mutation_p.S117L|GSDMD_uc003yyh.2_Intron	p.S117L	NM_024736	NP_079012	P57764	GSDMD_HUMAN			6	1053	+			117					D3DWJ9|Q96Q98	Missense_Mutation	SNP	ENST00000526406.1	37	c.350C>T	CCDS34956.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.647829	0.47258	.	.	ENSG00000104518	ENST00000526406;ENST00000533348;ENST00000533063;ENST00000262580;ENST00000534018;ENST00000533888	T;T;T;T;T;T	0.26810	1.71;1.71;1.71;1.71;1.71;1.71	4.7	4.7	0.59300	.	0.365267	0.23811	N	0.044337	T	0.48295	0.1492	M	0.72479	2.2	0.27457	N	0.953273	D;B;B	0.89917	1.0;0.028;0.023	D;B;B	0.91635	0.999;0.027;0.016	T	0.36163	-0.9759	10	0.41790	T	0.15	-27.9444	13.0705	0.59059	0.0:1.0:0.0:0.0	.	147;117;165	Q6ZRV8;P57764;G3V1A6	.;GSDMD_HUMAN;.	L	117;117;165;117;133;117	ENSP00000433209:S117L;ENSP00000434386:S117L;ENSP00000433958:S165L;ENSP00000262580:S117L;ENSP00000436684:S133L;ENSP00000437065:S117L	ENSP00000262580:S117L	S	+	2	0	GSDMD	144713222	0.010000	0.17322	0.647000	0.29507	0.076000	0.17211	1.506000	0.35747	2.455000	0.83008	0.543000	0.68304	TCA		0.637	GSDMD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382046.3	NM_024736		12	48	0	0	0	0.001855	0	12	48				
OPLAH	26873	broad.mit.edu	37	8	145106271	145106271	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr8:145106271G>A	ENST00000426825.1	-	28	3904	c.3823C>T	c.(3823-3825)Cac>Tac	p.H1275Y	CTD-3065J16.6_ENST00000528912.1_RNA|OPLAH_ENST00000534424.1_5'UTR|CTD-3065J16.6_ENST00000561181.1_RNA	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	1275					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	5-oxoprolinase (ATP-hydrolyzing) activity (GO:0017168)|ATP binding (GO:0005524)	p.H1274Y(1)		breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACGCTGCCGTGCTCGGGAAAG	0.682																																							uc003zar.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(3823-3825)CAC>TAC		5-oxoprolinase (ATP-hydrolysing)	L-Glutamic Acid(DB00142)						17.0	20.0	19.0					8																	145106271		1857	4100	5957	SO:0001583	missense	26873						5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding	g.chr8:145106271G>A	AF024672, AB122018	CCDS75802.1	8q24.3	2010-11-23			ENSG00000178814	ENSG00000178814	3.5.2.9		8149	protein-coding gene	gene with protein product		614243				14993790	Standard	NM_017570		Approved	OPLA, 5-Opase	uc003zar.3	O14841		ENST00000426825.1:c.3823C>T	8.37:g.145106271G>A	ENSP00000475943:p.His1275Tyr						p.H1275Y	NM_017570	NP_060040	O14841	OPLA_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		28	3905	-	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1275					A5PKY8|Q75W65|Q9Y4Q0	Missense_Mutation	SNP	ENST00000426825.1	37	c.3823C>T		.	.	.	.	.	.	.	.	.	.	g	6.468	0.454514	0.12283	.	.	ENSG00000178814	ENST00000426825	.	.	.	4.58	2.69	0.31865	.	0.061478	0.64402	D	0.000009	T	0.27313	0.0670	N	0.08118	0	0.20563	N	0.999886	B	0.02656	0.0	B	0.01281	0.0	T	0.21827	-1.0234	8	0.72032	D	0.01	.	11.0762	0.48032	0.0:0.0:0.6642:0.3358	.	1275	O14841	OPLA_HUMAN	Y	1275	.	ENSP00000412071:H1275Y	H	-	1	0	OPLAH	145178259	1.000000	0.71417	0.291000	0.24904	0.033000	0.12548	1.964000	0.40462	0.322000	0.23283	0.479000	0.44913	CAC		0.682	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017570		6	20	0	0	0	0.001984	0	6	20				
CNTLN	54875	broad.mit.edu	37	9	17298312	17298312	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr9:17298312G>T	ENST00000380647.3	+	7	1192	c.1108G>T	c.(1108-1110)Gaa>Taa	p.E370*	CNTLN_ENST00000262360.5_Nonsense_Mutation_p.E370*|CNTLN_ENST00000380641.4_Nonsense_Mutation_p.E370*|CNTLN_ENST00000425824.1_Nonsense_Mutation_p.E370*			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	370					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.E370*(2)		breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		GAGAAATCAGGAAGATGTTCA	0.343																																							uc003zmz.2		NA																	2	Substitution - Nonsense(2)		lung(2)	pancreas(1)	1						c.(1108-1110)GAA>TAA		centlein isoform 1							76.0	72.0	73.0					9																	17298312		1897	4120	6017	SO:0001587	stop_gained	54875					centriole|membrane	two-component sensor activity	g.chr9:17298312G>T	AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"""chromosome 9 open reading frame 101"", ""chromosome 9 open reading frame 39"""	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.1108G>T	9.37:g.17298312G>T	ENSP00000370021:p.Glu370*					CNTLN_uc003zmx.3_Nonsense_Mutation_p.E370*|CNTLN_uc003zmy.2_Nonsense_Mutation_p.E370*|CNTLN_uc010mio.2_Nonsense_Mutation_p.E49*	p.E370*	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN		GBM - Glioblastoma multiforme(50;6.14e-10)	7	1134	+			370					A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Nonsense_Mutation	SNP	ENST00000380647.3	37	c.1108G>T	CCDS43789.1	.	.	.	.	.	.	.	.	.	.	G	34	5.301349	0.95601	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360;ENST00000380641	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	19.8829	0.96904	0.0:0.0:1.0:0.0	.	.	.	.	X	370	.	ENSP00000262360:E370X	E	+	1	0	CNTLN	17288312	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.979000	0.93455	2.717000	0.92951	0.650000	0.86243	GAA		0.343	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3	NM_017738		14	60	1	0	2.32078e-09	0.003163	2.65233e-09	14	60				
UBAP2	55833	broad.mit.edu	37	9	33963754	33963754	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr9:33963754G>C	ENST00000379238.1	-	9	832	c.715C>G	c.(715-717)Ctg>Gtg	p.L239V	UBAP2_ENST00000360802.1_Missense_Mutation_p.L239V|UBAP2_ENST00000379239.4_De_novo_Start_InFrame|UBAP2_ENST00000539807.1_Intron|UBAP2_ENST00000418786.2_Missense_Mutation_p.L186V|UBAP2_ENST00000449054.1_Missense_Mutation_p.L239V					ubiquitin associated protein 2									p.L239V(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		TTGTTTGACAGATCCTGAGCT	0.284																																							uc003ztq.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(715-717)CTG>GTG		ubiquitin associated protein 2							166.0	148.0	154.0					9																	33963754		2203	4300	6503	SO:0001583	missense	55833							g.chr9:33963754G>C	AB040924	CCDS6547.1, CCDS75828.1	9p11.2	2008-02-05			ENSG00000137073	ENSG00000137073			14185	protein-coding gene	gene with protein product						8871400	Standard	NM_018449		Approved	KIAA1491, bA176F3.5, FLJ22435	uc003ztq.1	Q5T6F2	OTTHUMG00000000427	ENST00000379238.1:c.715C>G	9.37:g.33963754G>C	ENSP00000368540:p.Leu239Val					UBAP2_uc011loc.1_Missense_Mutation_p.L148V|UBAP2_uc011lod.1_Translation_Start_Site|UBAP2_uc011loe.1_Intron|UBAP2_uc011lof.1_Missense_Mutation_p.L164V|UBAP2_uc011log.1_Missense_Mutation_p.L185V|UBAP2_uc003ztr.2_Missense_Mutation_p.L111V	p.L239V	NM_018449	NP_060919	Q5T6F2	UBAP2_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)	9	828	-			239						Missense_Mutation	SNP	ENST00000379238.1	37	c.715C>G	CCDS6547.1	.	.	.	.	.	.	.	.	.	.	G	8.980	0.975184	0.18736	.	.	ENSG00000137073	ENST00000379238;ENST00000449054;ENST00000360802;ENST00000431417;ENST00000418786;ENST00000412543	T;T;T;T;T	0.32753	2.79;2.79;2.79;2.17;1.44	4.69	4.69	0.59074	.	0.831502	0.10439	N	0.674590	T	0.27866	0.0686	L	0.36672	1.1	0.23555	N	0.997425	P;P;B;P;P	0.46859	0.691;0.885;0.447;0.817;0.716	B;B;B;B;B	0.42495	0.275;0.389;0.206;0.217;0.366	T	0.07654	-1.0761	10	0.15499	T	0.54	-0.7329	14.7115	0.69235	0.0:0.0:1.0:0.0	.	186;164;148;164;239	E7EWG4;F5H4D5;F5H2C8;B4DH66;Q5T6F2	.;.;.;.;UBAP2_HUMAN	V	239;239;239;148;186;186	ENSP00000368540:L239V;ENSP00000416932:L239V;ENSP00000354039:L239V;ENSP00000404436:L186V;ENSP00000414800:L186V	ENSP00000354039:L239V	L	-	1	2	UBAP2	33953754	1.000000	0.71417	0.841000	0.33234	0.641000	0.38312	1.768000	0.38511	2.322000	0.78497	0.313000	0.20887	CTG		0.284	UBAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001071.1	NM_018449		12	86	0	0	0	0.004007	0	12	86				
PTBP3	9991	broad.mit.edu	37	9	115024748	115024748	+	Silent	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr9:115024748G>C	ENST00000374255.2	-	6	714	c.567C>G	c.(565-567)ctC>ctG	p.L189L	PTBP3_ENST00000343327.2_Silent_p.L94L|PTBP3_ENST00000487997.1_5'UTR|PTBP3_ENST00000334318.6_Silent_p.L192L|PTBP3_ENST00000458258.1_Silent_p.L195L|PTBP3_ENST00000374257.1_Silent_p.L161L			O95758	PTBP3_HUMAN	polypyrimidine tract binding protein 3	189	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				anatomical structure morphogenesis (GO:0009653)|erythrocyte maturation (GO:0043249)|mRNA processing (GO:0006397)|negative regulation of RNA splicing (GO:0033119)|regulation of cell differentiation (GO:0045595)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.L189L(2)									CAGGGTAAAAGAGGTTTTCAA	0.433																																							uc004bfw.2		NA																	2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(565-567)CTC>CTG		ROD1 regulator of differentiation 1 isoform 1							78.0	79.0	78.0					9																	115024748		2203	4300	6503	SO:0001819	synonymous_variant	9991				anatomical structure morphogenesis|mRNA processing	nucleus	nucleotide binding|RNA binding	g.chr9:115024748G>C	AB023967	CCDS6784.1, CCDS55332.1, CCDS55333.1, CCDS59140.1, CCDS59141.1	9q32	2013-07-16	2011-11-16	2011-11-16	ENSG00000119314	ENSG00000119314		"""RNA binding motif (RRM) containing"""	10253	protein-coding gene	gene with protein product		607527	"""regulator of differentiation (in S. pombe) 1"", ""ROD1 regulator of differentiation 1 (S. pombe)"""	ROD1		10207106	Standard	NM_005156		Approved	DKFZp781I1117	uc004bfx.3	O95758	OTTHUMG00000020503	ENST00000374255.2:c.567C>G	9.37:g.115024748G>C						ROD1_uc004bfv.2_Silent_p.L195L|ROD1_uc004bfx.2_Silent_p.L192L|ROD1_uc011lwu.1_Silent_p.L161L|ROD1_uc004bfy.2_Silent_p.L94L|ROD1_uc004bfz.2_Silent_p.L161L	p.L189L	NM_005156	NP_005147	O95758	ROD1_HUMAN			6	754	-			189			RRM 2.		B1ALY2|B1ALY3|B1ALY5|B1ALY6|B3KME7|Q68DB9|Q86YB3|Q86YH9	Silent	SNP	ENST00000374255.2	37	c.567C>G	CCDS6784.1																																																																																				0.433	PTBP3-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053679.1			36	119	0	0	0	0.003755	0	36	119				
TMEM8C	389827	broad.mit.edu	37	9	136380685	136380685	+	Missense_Mutation	SNP	G	G	T	rs538117168		TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr9:136380685G>T	ENST00000339996.3	-	4	545	c.444C>A	c.(442-444)agC>agA	p.S148R	TMEM8C_ENST00000413714.1_5'UTR	NM_001080483.2	NP_001073952.1	A6NI61	TMM8C_HUMAN	transmembrane protein 8C	148					muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|plasma membrane fusion (GO:0045026)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S148R(2)		NS(1)|autonomic_ganglia(1)|large_intestine(2)|lung(4)	8						GGGTGTAGACGCTCTTGTCTG	0.597																																							uc011mdk.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(442-444)AGC>AGA		transmembrane protein 8C							163.0	154.0	157.0					9																	136380685		2203	4300	6503	SO:0001583	missense	389827					integral to membrane		g.chr9:136380685G>T	BX324209	CCDS35170.1	9q34.2	2009-06-19		2009-06-19	ENSG00000187616	ENSG00000187616			33778	protein-coding gene	gene with protein product	"""transmembrane protein 226"""	615345					Standard	NM_001080483		Approved	TMEM226	uc011mdk.2	A6NI61	OTTHUMG00000131685	ENST00000339996.3:c.444C>A	9.37:g.136380685G>T	ENSP00000419712:p.Ser148Arg						p.S148R	NM_001080483	NP_001073952	A6NI61	TMM8C_HUMAN			4	444	-			148						Missense_Mutation	SNP	ENST00000339996.3	37	c.444C>A	CCDS35170.1	.	.	.	.	.	.	.	.	.	.	g	7.550	0.662418	0.14645	.	.	ENSG00000187616	ENST00000339996	T	0.44482	0.92	4.56	-1.37	0.09056	.	0.052392	0.64402	D	0.000001	T	0.30854	0.0778	L	0.36672	1.1	0.38807	D	0.955321	P	0.39665	0.682	P	0.45474	0.482	T	0.27191	-1.0081	10	0.07030	T	0.85	-33.0806	10.3165	0.43740	0.5062:0.0:0.4938:0.0	.	148	A6NI61	TMM8C_HUMAN	R	148	ENSP00000419712:S148R	ENSP00000419712:S148R	S	-	3	2	TMEM8C	135370506	0.018000	0.18449	0.996000	0.52242	0.752000	0.42762	-1.063000	0.03465	-0.166000	0.10890	-0.642000	0.03964	AGC		0.597	TMEM8C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356200.2	NM_001080483		18	75	1	0	2.37509e-13	0.010504	2.77703e-13	18	75				
PNPLA7	375775	broad.mit.edu	37	9	140441330	140441330	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr9:140441330G>A	ENST00000277531.4	-	3	336	c.150C>T	c.(148-150)ttC>ttT	p.F50F	PNPLA7_ENST00000406427.1_Silent_p.F75F|AL365502.1_ENST00000580317.1_RNA	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	50					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)	p.F50F(1)		breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		CTCTCTTCCGGAACCGGTACT	0.612																																							uc004cnf.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(148-150)TTC>TTT		patatin-like phospholipase domain containing 7							120.0	104.0	110.0					9																	140441330		2203	4300	6503	SO:0001819	synonymous_variant	375775				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity	g.chr9:140441330G>A	AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"""Patatin-like phospholipase domain containing"""	24768	protein-coding gene	gene with protein product		612122	"""chromosome 9 open reading frame 111"""	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.150C>T	9.37:g.140441330G>A						PNPLA7_uc010ncj.1_Silent_p.F75F	p.F50F	NM_152286	NP_689499	Q6ZV29	PLPL7_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)	3	487	-	all_cancers(76;0.126)		50					B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Silent	SNP	ENST00000277531.4	37	c.150C>T	CCDS7045.1																																																																																				0.612	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	NM_152286		21	85	0	0	0	0.003954	0	21	85				
CACNA1B	774	broad.mit.edu	37	9	140870387	140870387	+	Silent	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr9:140870387C>G	ENST00000371372.1	+	12	1717	c.1572C>G	c.(1570-1572)ctC>ctG	p.L524L	CACNA1B_ENST00000371355.4_Silent_p.L525L|CACNA1B_ENST00000371357.1_Silent_p.L525L|CACNA1B_ENST00000277551.2_Silent_p.L524L|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371363.1_Silent_p.L524L	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	524					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)	p.L524L(2)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	TCCTGGGTCTCTTCCTCACAG	0.567																																							uc004cog.2		NA																	2	Substitution - coding silent(2)		lung(2)	breast(3)|large_intestine(2)|ovary(1)	6						c.(1570-1572)CTC>CTG		calcium channel, voltage-dependent, N type,	Amlodipine(DB00381)|Gabapentin(DB00996)						64.0	66.0	65.0					9																	140870387		1873	4104	5977	SO:0001819	synonymous_variant	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:140870387C>G	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.1572C>G	9.37:g.140870387C>G						CACNA1B_uc011mfd.1_Silent_p.L55L	p.L524L	NM_000718	NP_000709	Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	12	1717	+	all_cancers(76;0.166)		524			Helical; Name=S2 of repeat II; (Potential).|II.		B1AQK5	Silent	SNP	ENST00000371372.1	37	c.1572C>G	CCDS59522.1																																																																																				0.567	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		8	28	0	0	0	0.004482	0	8	28				
CACNA1B	774	broad.mit.edu	37	9	140919511	140919511	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr9:140919511C>T	ENST00000371372.1	+	20	3318	c.3173C>T	c.(3172-3174)gCa>gTa	p.A1058V	CACNA1B_ENST00000371367.5_Missense_Mutation_p.A42V|CACNA1B_ENST00000545473.1_Missense_Mutation_p.A42V|CACNA1B_ENST00000371355.4_Missense_Mutation_p.A1059V|CACNA1B_ENST00000371357.1_Missense_Mutation_p.A1059V|CACNA1B_ENST00000277551.2_Missense_Mutation_p.A1058V|CACNA1B_ENST00000277549.5_Missense_Mutation_p.A250V|CACNA1B_ENST00000371363.1_Missense_Mutation_p.A1058V	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1058					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)	p.A1058V(2)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	CCAGAGGATGCAGACAATCAG	0.592																																							uc004cog.2		NA																	2	Substitution - Missense(2)		lung(2)	breast(3)|large_intestine(2)|ovary(1)	6						c.(3172-3174)GCA>GTA		calcium channel, voltage-dependent, N type,	Amlodipine(DB00381)|Gabapentin(DB00996)						67.0	76.0	73.0					9																	140919511		2176	4270	6446	SO:0001583	missense	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:140919511C>T	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.3173C>T	9.37:g.140919511C>T	ENSP00000360423:p.Ala1058Val					CACNA1B_uc011mfd.1_Missense_Mutation_p.A588V|CACNA1B_uc004coi.2_Missense_Mutation_p.A268V	p.A1058V	NM_000718	NP_000709	Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	20	3318	+	all_cancers(76;0.166)		1058			Cytoplasmic (Potential).		B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	c.3173C>T	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.439607	0.83885	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355;ENST00000371367;ENST00000545473	T;T;T;T;T;T;T;T	0.38722	1.12;1.12;1.12;1.12;1.12;1.12;1.12;1.12	5.02	3.16	0.36331	.	21.793200	0.00166	N	0.000004	T	0.38161	0.1030	L	0.46157	1.445	0.46149	D	0.998899	P;P;B	0.37824	0.609;0.609;0.409	B;B;B	0.30716	0.119;0.119;0.119	T	0.23655	-1.0182	10	0.31617	T	0.26	.	10.5464	0.45062	0.0:0.8435:0.0:0.1565	.	1058;1059;1058	B1AQK4;B1AQK7;B1AQK6	.;.;.	V	1058;1058;250;1058;1059;1059;42;42	ENSP00000360423:A1058V;ENSP00000277551:A1058V;ENSP00000277549:A250V;ENSP00000360414:A1058V;ENSP00000360408:A1059V;ENSP00000360406:A1059V;ENSP00000360418:A42V;ENSP00000441232:A42V	ENSP00000277549:A250V	A	+	2	0	CACNA1B	140039332	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	4.385000	0.59613	1.108000	0.41662	0.561000	0.74099	GCA		0.592	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		7	37	0	0	0	0.004482	0	7	37				
KLHL15	80311	broad.mit.edu	37	X	24006555	24006555	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chrX:24006555C>G	ENST00000328046.8	-	4	1553	c.1298G>C	c.(1297-1299)gGa>gCa	p.G433A		NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN	kelch-like family member 15	433					protein ubiquitination (GO:0016567)			p.G433A(2)		autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						TGAGGTGATTCCACCGGTGAT	0.453																																							uc004dba.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)	2						c.(1297-1299)GGA>GCA		kelch-like 15							170.0	139.0	150.0					X																	24006555		2203	4300	6503	SO:0001583	missense	80311							g.chrX:24006555C>G	AB051464	CCDS35217.1	Xp22.1-p21	2013-01-30	2013-01-30		ENSG00000174010	ENSG00000174010		"""Kelch-like"", ""BTB/POZ domain containing"""	29347	protein-coding gene	gene with protein product			"""kelch-like 15 (Drosophila)"""			11214970, 14702039	Standard	NM_030624		Approved	KIAA1677	uc004dba.4	Q96M94	OTTHUMG00000021261	ENST00000328046.8:c.1298G>C	X.37:g.24006555C>G	ENSP00000332791:p.Gly433Ala						p.G433A	NM_030624	NP_085127	Q96M94	KLH15_HUMAN			4	1554	-			433			Kelch 3.		Q32MN3|Q8NDA3|Q96BM6|Q9C0I6	Missense_Mutation	SNP	ENST00000328046.8	37	c.1298G>C	CCDS35217.1	.	.	.	.	.	.	.	.	.	.	C	17.69	3.451679	0.63290	.	.	ENSG00000174010	ENST00000328046	D	0.95756	-3.8	5.49	5.49	0.81192	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.98267	0.9426	M	0.90870	3.155	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99305	1.0902	10	0.87932	D	0	.	18.6167	0.91305	0.0:1.0:0.0:0.0	.	433	Q96M94	KLH15_HUMAN	A	433	ENSP00000332791:G433A	ENSP00000332791:G433A	G	-	2	0	KLHL15	23916476	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.132000	0.77251	2.426000	0.82243	0.506000	0.49869	GGA		0.453	KLHL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056078.1	XM_040383		66	82	0	0	0	0.00361	0	66	82				
IL1RAPL1	11141	broad.mit.edu	37	X	29972752	29972752	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chrX:29972752G>C	ENST00000378993.1	+	10	1988	c.1315G>C	c.(1315-1317)Gaa>Caa	p.E439Q	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.E439Q	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	439	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)	p.E439Q(4)		biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						TGATATGCTTGAAAAGCATTA	0.373																																							uc004dby.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(3)|lung(1)|pancreas(1)	5						c.(1315-1317)GAA>CAA		interleukin 1 receptor accessory protein-like 1							93.0	81.0	85.0					X																	29972752		2202	4300	6502	SO:0001583	missense	11141				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	g.chrX:29972752G>C	AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5996	protein-coding gene	gene with protein product		300206	"""mental retardation, X-linked 34"", ""mental retardation, X-linked 21"", ""mental retardation, X-linked 10"""	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.1315G>C	X.37:g.29972752G>C	ENSP00000368278:p.Glu439Gln						p.E439Q	NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN			10	1823	+			439			Cytoplasmic (Potential).|TIR.		A0AVG4|Q9UJ53	Missense_Mutation	SNP	ENST00000378993.1	37	c.1315G>C	CCDS14218.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.007709	0.93287	.	.	ENSG00000169306	ENST00000378993;ENST00000302196	T;T	0.10099	2.91;2.91	5.81	5.81	0.92471	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.000000	0.85682	D	0.000000	T	0.44767	0.1309	M	0.91818	3.245	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.54330	-0.8310	9	.	.	.	.	19.0725	0.93145	0.0:0.0:1.0:0.0	.	439	Q9NZN1	IRPL1_HUMAN	Q	439	ENSP00000368278:E439Q;ENSP00000305200:E439Q	.	E	+	1	0	IL1RAPL1	29882673	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.453000	0.82957	0.594000	0.82650	GAA		0.373	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056155.1	NM_014271		27	34	0	0	0	0.007291	0	27	34				
CACNA1F	778	broad.mit.edu	37	X	49086776	49086776	+	Silent	SNP	T	T	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chrX:49086776T>A	ENST00000376265.2	-	6	784	c.723A>T	c.(721-723)gcA>gcT	p.A241A	CACNA1F_ENST00000323022.5_Silent_p.A241A|CACNA1F_ENST00000376251.1_Silent_p.A176A	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	241					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.A241A(2)		autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GCACGAGCAGTGCAATGTGCA	0.557																																							uc004dnb.2		NA																	2	Substitution - coding silent(2)		lung(2)	breast(3)|ovary(1)|kidney(1)|skin(1)	6						c.(721-723)GCA>GCT		calcium channel, voltage-dependent, L type,	Verapamil(DB00661)						69.0	54.0	59.0					X																	49086776		2203	4300	6503	SO:0001819	synonymous_variant	778				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chrX:49086776T>A	AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.723A>T	X.37:g.49086776T>A						CACNA1F_uc010nip.2_Silent_p.A241A	p.A241A	NM_005183	NP_005174	O60840	CAC1F_HUMAN			6	785	-			241			I.|Helical; Name=S5 of repeat I; (Potential).		A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Silent	SNP	ENST00000376265.2	37	c.723A>T	CCDS35253.1																																																																																				0.557	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183		12	10	0	0	0	0.001855	0	12	10				
HEPH	9843	broad.mit.edu	37	X	65476147	65476147	+	Silent	SNP	T	T	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chrX:65476147T>A	ENST00000343002.2	+	16	3535	c.2871T>A	c.(2869-2871)acT>acA	p.T957T	HEPH_ENST00000419594.1_Silent_p.T768T|HEPH_ENST00000441993.2_Silent_p.T960T|HEPH_ENST00000374727.3_Silent_p.T960T|HEPH_ENST00000519389.1_Silent_p.T1011T|HEPH_ENST00000336279.5_Silent_p.T690T			Q9BQS7	HEPH_HUMAN	hephaestin	957	Plastocyanin-like 6.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)	p.T957T(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						AGGATGAAACTTTCTTGGAGA	0.398																																							uc011moz.1		NA																	2	Substitution - coding silent(2)		lung(2)	lung(5)|ovary(4)	9						c.(2878-2880)ACT>ACA		hephaestin isoform a							105.0	94.0	98.0					X																	65476147		2203	4300	6503	SO:0001819	synonymous_variant	9843				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	g.chrX:65476147T>A	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.2871T>A	X.37:g.65476147T>A						HEPH_uc004dwn.2_Silent_p.T960T|HEPH_uc004dwo.2_Silent_p.T690T|HEPH_uc010nkr.2_Silent_p.T768T|HEPH_uc011mpa.1_Silent_p.T960T|HEPH_uc010nks.2_Silent_p.T249T	p.T960T	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN			17	2940	+			957			Extracellular (Potential).|Plastocyanin-like 6.		B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Silent	SNP	ENST00000343002.2	37	c.2880T>A																																																																																					0.398	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		4	71	0	0	0	0.009096	0	4	71				
MED12	9968	broad.mit.edu	37	X	70351937	70351937	+	Silent	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chrX:70351937C>G	ENST00000374080.3	+	30	4166	c.4134C>G	c.(4132-4134)ctC>ctG	p.L1378L	MED12_ENST00000374102.1_Silent_p.L1378L|MED12_ENST00000333646.6_Silent_p.L1378L			Q93074	MED12_HUMAN	mediator complex subunit 12	1378					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.L1378L(4)		breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TGAACTCCCTCTTGGAGAACA	0.512			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																																uc004dyy.2		NA		Dom	yes		X	Xq13	9968		mediator complex subunit 12	Yes		M					4	Substitution - coding silent(4)		lung(4)	ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4						c.(4132-4134)CTC>CTG		mediator complex subunit 12							82.0	75.0	77.0					X																	70351937		2035	4171	6206	SO:0001819	synonymous_variant	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70351937C>G	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.4134C>G	X.37:g.70351937C>G						MED12_uc011mpq.1_Silent_p.L1378L|MED12_uc004dyz.2_Silent_p.L1378L|MED12_uc004dza.2_Silent_p.L1225L|MED12_uc010nla.2_Silent_p.L4L	p.L1378L	NM_005120	NP_005111	Q93074	MED12_HUMAN			30	4333	+	Renal(35;0.156)		1378					O15410|O75557|Q9UHV6|Q9UND7	Silent	SNP	ENST00000374080.3	37	c.4134C>G	CCDS43970.1																																																																																				0.512	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		17	39	0	0	0	0.010504	0	17	39				
MED12	9968	broad.mit.edu	37	X	70352266	70352266	+	Silent	SNP	C	C	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chrX:70352266C>A	ENST00000374080.3	+	31	4325	c.4293C>A	c.(4291-4293)ctC>ctA	p.L1431L	MED12_ENST00000374102.1_Silent_p.L1431L|MED12_ENST00000333646.6_Silent_p.L1431L			Q93074	MED12_HUMAN	mediator complex subunit 12	1431					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.L1431L(4)		breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TGGCCCCCCTCATTGCTAAAC	0.557			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																																uc004dyy.2		NA		Dom	yes		X	Xq13	9968		mediator complex subunit 12	Yes		M					4	Substitution - coding silent(4)		lung(4)	ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4						c.(4291-4293)CTC>CTA		mediator complex subunit 12							64.0	59.0	60.0					X																	70352266		1971	4131	6102	SO:0001819	synonymous_variant	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70352266C>A	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.4293C>A	X.37:g.70352266C>A						MED12_uc011mpq.1_Silent_p.L1431L|MED12_uc004dyz.2_Silent_p.L1431L|MED12_uc004dza.2_Silent_p.L1278L|MED12_uc010nla.2_Silent_p.L57L	p.L1431L	NM_005120	NP_005111	Q93074	MED12_HUMAN			31	4492	+	Renal(35;0.156)		1431					O15410|O75557|Q9UHV6|Q9UND7	Silent	SNP	ENST00000374080.3	37	c.4293C>A	CCDS43970.1																																																																																				0.557	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		13	29	1	0	7.93312e-07	0.00245	8.70639e-07	13	29				
PLP1	5354	broad.mit.edu	37	X	103044264	103044264	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chrX:103044264C>T	ENST00000303958.2	+	6	845	c.699C>T	c.(697-699)ttC>ttT	p.F233F	PLP1_ENST00000466486.1_3'UTR|PLP1_ENST00000418604.1_Silent_p.F233F|PLP1_ENST00000361621.2_Silent_p.F198F	NM_000533.3	NP_000524.3	P60201	MYPR_HUMAN	proteolipid protein 1	233					astrocyte development (GO:0014002)|axon development (GO:0061564)|axon ensheathment (GO:0008366)|cell death (GO:0008219)|cell maturation (GO:0048469)|central nervous system myelination (GO:0022010)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|long-chain fatty acid biosynthetic process (GO:0042759)|positive regulation of gene expression (GO:0010628)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)	structural constituent of myelin sheath (GO:0019911)|structural molecule activity (GO:0005198)	p.F233F(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						TCCTGCAGTTCCAAATGACCT	0.413																																							uc010nov.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(697-699)TTC>TTT		proteolipid protein 1 isoform 1							267.0	215.0	233.0					X																	103044264		2203	4300	6503	SO:0001819	synonymous_variant	5354				cell death|synaptic transmission	integral to membrane		g.chrX:103044264C>T	M27110	CCDS14513.1, CCDS14514.1	Xq22	2013-05-14	2008-07-28		ENSG00000123560	ENSG00000123560			9086	protein-coding gene	gene with protein product	"""Pelizaeus-Merzbacher disease"""	300401	"""spastic paraplegia 2, uncomplicated"""	SPG2, PLP			Standard	NM_001128834		Approved	GPM6C	uc004elk.3	P60201	OTTHUMG00000022111	ENST00000303958.2:c.699C>T	X.37:g.103044264C>T						RAB9B_uc004eli.1_Intron|PLP1_uc004elk.2_Silent_p.F233F|PLP1_uc004elj.2_Silent_p.F198F|PLP1_uc011msf.1_Silent_p.F178F|PLP1_uc010nox.2_Silent_p.F187F	p.F233F	NM_001128834	NP_001122306	P60201	MYPR_HUMAN			7	979	+			233			Extracellular (Probable).		P04400|P06905|Q502Y1|Q6FHZ6	Silent	SNP	ENST00000303958.2	37	c.699C>T	CCDS14513.1																																																																																				0.413	PLP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057743.2			34	56	0	0	0	0.002836	0	34	56				
TENM1	10178	broad.mit.edu	37	X	123870875	123870875	+	Silent	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chrX:123870875G>T	ENST00000371130.3	-	4	771	c.708C>A	c.(706-708)acC>acA	p.T236T	TENM1_ENST00000422452.2_Silent_p.T236T	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	236	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.T238T(2)									CCTGCGTGCTGGTTGGGGGAG	0.557																																							uc004euj.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						c.(706-708)ACC>ACA		odz, odd Oz/ten-m homolog 1 isoform 3							147.0	137.0	140.0					X																	123870875		2203	4300	6503	SO:0001819	synonymous_variant	10178				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	g.chrX:123870875G>T	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.708C>A	X.37:g.123870875G>T						ODZ1_uc011muj.1_Silent_p.T236T|ODZ1_uc010nqy.2_Silent_p.T236T	p.T236T	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN			4	772	-			236			Teneurin N-terminal.|Cytoplasmic (Potential).		B2RTR5|Q5JZ17	Silent	SNP	ENST00000371130.3	37	c.708C>A	CCDS14609.1																																																																																				0.557	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		33	186	1	0	2.75727e-19	0.004878	3.33949e-19	33	186				
ATP11C	286410	broad.mit.edu	37	X	138832284	138832284	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chrX:138832284T>A	ENST00000327569.3	-	24	2835	c.2737A>T	c.(2737-2739)Atg>Ttg	p.M913L	ATP11C_ENST00000361648.2_Missense_Mutation_p.M913L|ATP11C_ENST00000359686.2_Missense_Mutation_p.M913L|ATP11C_ENST00000370557.1_Missense_Mutation_p.M907L|ATP11C_ENST00000370543.1_Missense_Mutation_p.M913L|ATP11C_ENST00000460773.1_5'UTR	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	913					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.M913L(4)		breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					ATATTGTACATTGTAAGGTAA	0.383																																							uc004faz.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(5)|large_intestine(3)	8						c.(2737-2739)ATG>TTG		ATPase, class VI, type 11C isoform a							172.0	142.0	152.0					X																	138832284		2203	4300	6503	SO:0001583	missense	286410				ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chrX:138832284T>A	AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"""ATPases / P-type"""	13554	protein-coding gene	gene with protein product		300516	"""ATPase, Class VI, type 11C"""			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.2737A>T	X.37:g.138832284T>A	ENSP00000332756:p.Met913Leu					ATP11C_uc004fax.2_Missense_Mutation_p.M121L|ATP11C_uc004fay.2_RNA|ATP11C_uc004fba.2_Missense_Mutation_p.M913L	p.M913L	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN			24	2836	-	Acute lymphoblastic leukemia(192;0.000127)		913			Helical; (Potential).		Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Missense_Mutation	SNP	ENST00000327569.3	37	c.2737A>T	CCDS14668.1	.	.	.	.	.	.	.	.	.	.	T	8.763	0.923964	0.18056	.	.	ENSG00000101974	ENST00000370557;ENST00000361648;ENST00000327569;ENST00000370543;ENST00000359686	D;D;D;D;D	0.86627	-2.15;-2.15;-2.15;-2.15;-2.15	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.65048	0.2654	N	0.01003	-1.06	0.58432	D	0.999995	B;B;B	0.12630	0.006;0.002;0.003	B;B;B	0.15870	0.014;0.006;0.014	T	0.66830	-0.5824	10	0.02654	T	1	.	14.4005	0.67041	0.0:0.0:0.0:1.0	.	913;913;913	Q8NB49-3;Q8NB49;Q8NB49-2	.;AT11C_HUMAN;.	L	907;913;913;913;913	ENSP00000359588:M907L;ENSP00000355165:M913L;ENSP00000332756:M913L;ENSP00000359574:M913L;ENSP00000352715:M913L	ENSP00000332756:M913L	M	-	1	0	ATP11C	138659950	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.804000	0.62554	1.999000	0.58509	0.486000	0.48141	ATG		0.383	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694		24	49	0	0	0	0.002299	0	24	49				
NOTCH2	4853	broad.mit.edu	37	1	120467956	120467957	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:120467956_120467957insA	ENST00000256646.2	-	25	4701_4702	c.4482_4483insT	c.(4480-4485)tttgaafs	p.E1495fs	NOTCH2_ENST00000493703.1_5'Flank	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1495	Negative regulatory region (NRR).				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCCTGGCATTCAAAGTTGTCAA	0.51			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																														uc001eik.2		NA		Dom	yes		1	1p13-p11	4853	N|F|Mis	Notch homolog 2			L			marginal zone lymphoma|DLBCL		0				lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27						c.(4480-4485)TTTGAAfs		notch 2 preproprotein																																				SO:0001589	frameshift_variant	4853	Alagille_Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120467956_120467957insA	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.4483dupT	1.37:g.120467959_120467959dupA	ENSP00000256646:p.Glu1495fs						p.F1494fs	NM_024408	NP_077719	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	25	4738_4739	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	1494_1495			Negative regulatory region (NRR).|LNR 2.|Extracellular (Potential).		Q5T3X7|Q99734|Q9H240	Frame_Shift_Ins	INS	ENST00000256646.2	37	c.4482_4483insT	CCDS908.1																																																																																				0.510	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		34	450	NA	NA	NA	NA	NA	34	450	---	---	---	---
AHNAK	79026	broad.mit.edu	37	11	62301532	62301544	+	Frame_Shift_Del	DEL	CTCATCATCCCCG	CTCATCATCCCCG	-	rs117532364|rs372335096	byFrequency	TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	CTCATCATCCCCG	CTCATCATCCCCG	-	-	CTCATCATCCCCG	CTCATCATCCCCG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr11:62301532_62301544delCTCATCATCCCCG	ENST00000378024.4	-	5	619_631	c.345_357delCGGGGATGATGAG	c.(343-357)agcggggatgatgagfs	p.SGDDE115fs	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	115					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GCTGGTACTCCTCATCATCCCCGCTCTGCAGAA	0.596																																							uc001ntl.2		NA																	0				ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(343-357)AGCGGGGATGATGAGfs		AHNAK nucleoprotein isoform 1																																				SO:0001589	frameshift_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62301532_62301544delCTCATCATCCCCG	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.345_357delCGGGGATGATGAG	11.37:g.62301532_62301544delCTCATCATCCCCG	ENSP00000367263:p.Ser115fs					AHNAK_uc001ntk.1_Intron	p.S115fs	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	645_657	-		Melanoma(852;0.155)	115_119					A1A586	Frame_Shift_Del	DEL	ENST00000378024.4	37	c.345_357delCGGGGATGATGAG	CCDS31584.1																																																																																				0.596	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		13	81	NA	NA	NA	NA	NA	13	81	---	---	---	---
DDX54	79039	broad.mit.edu	37	12	113601889	113601891	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	CCT	CCT	-	-	CCT	CCT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr12:113601889_113601891delCCT	ENST00000306014.5	-	15	1946_1948	c.1919_1921delAGG	c.(1918-1923)gaggcg>gcg	p.E640del	DDX54_ENST00000549271.1_5'Flank|DDX54_ENST00000314045.7_In_Frame_Del_p.E640del	NM_024072.3	NP_076977.3	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	640	Interaction with nuclear receptors.				ATP catabolic process (GO:0006200)|intracellular estrogen receptor signaling pathway (GO:0030520)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						ctctctcccgcctcctcctcctc	0.68																																							uc001tup.2		NA																	0				skin(2)|central_nervous_system(1)	3						c.(1918-1923)GAGGCG>GCG		DEAD (Asp-Glu-Ala-Asp) box polypeptide 54			,	23,3979		3,17,1981					,	-0.2	0.0			22	56,7794		7,42,3876	no	coding,coding	DDX54	NM_024072.3,NM_001111322.1	,	10,59,5857	A1A1,A1R,RR		0.7134,0.5747,0.6666	,	,		79,11773				SO:0001651	inframe_deletion	79039				estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity	g.chr12:113601889_113601891delCCT	AF144056	CCDS31907.1, CCDS44984.1	12q24.11	2006-01-30				ENSG00000123064		"""DEAD-boxes"""	20084	protein-coding gene	gene with protein product		611665				12466272	Standard	NM_001111322		Approved	MGC2835, APR-5, DP97	uc001tuq.4	Q8TDD1	OTTHUMG00000169676	ENST00000306014.5:c.1919_1921delAGG	12.37:g.113601898_113601900delCCT	ENSP00000304072:p.Glu640del					DDX54_uc001tuq.3_In_Frame_Del_p.E640del	p.E640del	NM_024072	NP_076977	Q8TDD1	DDX54_HUMAN			15	1947_1949	-			640			Interaction with nuclear receptors.		Q86YT8|Q9BRZ1	In_Frame_Del	DEL	ENST00000306014.5	37	c.1919_1921delAGG	CCDS31907.1																																																																																				0.680	DDX54-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405435.1	NM_024072		2	4	NA	NA	NA	NA	NA	2	4	---	---	---	---
RAB40C	57799	broad.mit.edu	37	16	677517	677522	+	In_Frame_Del	DEL	CGGGGG	CGGGGG	-	rs370444305|rs375833821		TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	CGGGGG	CGGGGG	-	-	CGGGGG	CGGGGG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr16:677517_677522delCGGGGG	ENST00000248139.3	+	6	944_949	c.741_746delCGGGGG	c.(739-747)gccgggggc>gcc	p.GG250del	RAB40C_ENST00000539661.1_In_Frame_Del_p.GG250del|RAB40C_ENST00000535977.1_In_Frame_Del_p.GG250del|RAB40C_ENST00000538492.1_In_Frame_Del_p.GG250del	NM_021168.4	NP_066991.3	Q96S21	RB40C_HUMAN	RAB40C, member RAS oncogene family	250					protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	6		Hepatocellular(780;0.0218)				CCAGCGGGGCCGGGGGCGGCGGCAGC	0.641																																					Melanoma(123;1631 1690 28262 44104 44957)	Melanoma(123;1631 1690 28262 44104 44957)	uc002chr.2		NA																	0					0						c.(739-747)GCCGGGGGC>GCC		RAB40C, member RAS oncogene family																																				SO:0001651	inframe_deletion	57799				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr16:677517_677522delCGGGGG	Z84779	CCDS10413.1	16p13.3	2008-07-28	2003-10-14		ENSG00000197562	ENSG00000197562		"""RAB, member RAS oncogene"""	18285	protein-coding gene	gene with protein product			"""RAS-like, family 8, member C"""	RASL8C		11697911, 18485483	Standard	NM_021168		Approved	RARL	uc021szv.1	Q96S21	OTTHUMG00000047854	ENST00000248139.3:c.741_746delCGGGGG	16.37:g.677517_677522delCGGGGG	ENSP00000248139:p.Gly250_Gly251del					RAB40C_uc002chq.2_In_Frame_Del_p.GG231del|WFIKKN1_uc002chs.1_5'Flank	p.GG250del	NM_021168	NP_066991	Q96S21	RB40C_HUMAN			6	857_862	+		Hepatocellular(780;0.0218)	250_251					A2IDE2|D3DU54|O60795|Q4TT41|Q5PXE8|Q6PIU5	In_Frame_Del	DEL	ENST00000248139.3	37	c.741_746delCGGGGG	CCDS10413.1																																																																																				0.641	RAB40C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109079.4	NM_021168		48	215	NA	NA	NA	NA	NA	48	215	---	---	---	---
AAR2	25980	broad.mit.edu	37	20	34828224	34828229	+	In_Frame_Del	DEL	TGGAGA	TGGAGA	-	rs373127299		TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	TGGAGA	TGGAGA	-	-	TGGAGA	TGGAGA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr20:34828224_34828229delTGGAGA	ENST00000373932.3	+	2	780_785	c.434_439delTGGAGA	c.(433-441)gtggagaag>gag	p.145_147VEK>E	AAR2_ENST00000320849.4_In_Frame_Del_p.145_147VEK>E|AAR2_ENST00000397286.3_In_Frame_Del_p.145_147VEK>E	NM_015511.3	NP_056326.2	Q9Y312	AAR2_HUMAN	AAR2 splicing factor homolog (S. cerevisiae)	145				E -> K (in Ref. 2; CAB55913). {ECO:0000305}.													GAAGCCACAGTGGAGAAGCTACAGCC	0.568																																							uc002xfc.1		NA																	0					0						c.(433-441)GTGGAGAAG>GAG		hypothetical protein LOC25980																																				SO:0001651	inframe_deletion	25980							g.chr20:34828224_34828229delTGGAGA		CCDS13273.1	20q11.23	2012-07-20	2012-07-20	2012-07-20	ENSG00000131043	ENSG00000131043			15886	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 4"""	C20orf4			Standard	NM_015511		Approved	bA234K24.2	uc002xfc.3	Q9Y312	OTTHUMG00000032380	ENST00000373932.3:c.434_439delTGGAGA	20.37:g.34828224_34828229delTGGAGA	ENSP00000363043:p.Val145_Lys147delinsGlu					C20orf4_uc002xfd.1_In_Frame_Del_p.145_147VEK>E|C20orf4_uc002xfe.1_In_Frame_Del_p.145_147VEK>E	p.145_147VEK>E	NM_015511	NP_056326	Q9Y312	CT004_HUMAN			2	527_532	+	Breast(12;0.0162)	Myeloproliferative disorder(115;0.0393)	145_147					E1P5S7|Q9H4F9|Q9P1P3|Q9UFK9	In_Frame_Del	DEL	ENST00000373932.3	37	c.434_439delTGGAGA	CCDS13273.1																																																																																				0.568	AAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079001.2	NM_015511		26	255	NA	NA	NA	NA	NA	26	255	---	---	---	---
MFSD8	256471	broad.mit.edu	37	4	128842758	128842758	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr4:128842758delA	ENST00000296468.3	-	12	1398	c.1271delT	c.(1270-1272)gtgfs	p.V424fs	MFSD8_ENST00000513559.1_Frame_Shift_Del_p.V379fs|MFSD8_ENST00000515130.1_5'UTR	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	424					cell death (GO:0008219)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)				cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						TCCTATTAGCACAGCTGATGT	0.448																																							uc003ifp.2		NA																	0				ovary(1)|liver(1)	2						c.(1270-1272)GTGfs		major facilitator superfamily domain containing							106.0	110.0	108.0					4																	128842758		2203	4300	6503	SO:0001589	frameshift_variant	256471				cell death|transmembrane transport	integral to membrane|lysosomal membrane		g.chr4:128842758delA	AK074564	CCDS3736.1	4q28.2	2014-09-17			ENSG00000164073	ENSG00000164073			28486	protein-coding gene	gene with protein product		611124	"""ceroid-lipofuscinosis, neuronal 7, late infantile, variant"""	CLN7		17564970	Standard	NM_152778		Approved	MGC33302	uc003ifp.3	Q8NHS3	OTTHUMG00000133303	ENST00000296468.3:c.1271delT	4.37:g.128842758delA	ENSP00000296468:p.Val424fs					MFSD8_uc011cgu.1_Frame_Shift_Del_p.V379fs|MFSD8_uc011cgv.1_3'UTR	p.V424fs	NM_152778	NP_689991	Q8NHS3	MFSD8_HUMAN			12	1434	-			424			Helical; (Potential).		B2RDM1|B7Z205|Q8N2P3	Frame_Shift_Del	DEL	ENST00000296468.3	37	c.1271delT	CCDS3736.1																																																																																				0.448	MFSD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257097.1	NM_152778		38	135	NA	NA	NA	NA	NA	38	135	---	---	---	---
PLEKHG1	57480	broad.mit.edu	37	6	151151947	151151951	+	Frame_Shift_Del	DEL	CCTCC	CCTCC	-			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08	CCTCC	CCTCC	-	-	CCTCC	CCTCC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr6:151151947_151151951delCCTCC	ENST00000358517.2	+	15	1911_1915	c.1700_1704delCCTCC	c.(1699-1704)tcctccfs	p.SS567fs	PLEKHG1_ENST00000367328.1_Frame_Shift_Del_p.SS567fs			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	567							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		CCGTCATTTTCCTCCTCAGATCTGA	0.517																																							uc003qny.1		NA																	0				ovary(2)	2						c.(1699-1704)TCCTCCfs		pleckstrin homology domain containing, family G																																				SO:0001589	frameshift_variant	57480				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:151151947_151151951delCCTCC	AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.1700_1704delCCTCC	6.37:g.151151947_151151951delCCTCC	ENSP00000351318:p.Ser567fs					PLEKHG1_uc011eel.1_Frame_Shift_Del_p.S607fs|PLEKHG1_uc011eem.1_Frame_Shift_Del_p.S626fs|PLEKHG1_uc003qnz.2_Frame_Shift_Del_p.S567fs	p.S567fs	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)	16	2012_2016	+			567_568					Q5T1F2	Frame_Shift_Del	DEL	ENST00000358517.2	37	c.1700_1704delCCTCC	CCDS34552.1																																																																																				0.517	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1			36	183	NA	NA	NA	NA	NA	36	183	---	---	---	---
